diff --git "a/BioMedGraphica-Conn/Entity/Disease/BioMedGraphica_Conn_Disease_Description_Combined.csv" "b/BioMedGraphica-Conn/Entity/Disease/BioMedGraphica_Conn_Disease_Description_Combined.csv"
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+BioMedGraphica_Conn_ID,BioMedGraphica_ID,Description
+BMGC_DS00001,BMG_DS000001,"MONDO: Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. | MeSH: An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL."
+BMGC_DS00002,BMG_DS000002,
+BMGC_DS00003,BMG_DS000003,MONDO: Three or more consecutive spontaneous abortions. | MeSH: Three or more consecutive spontaneous abortions.
+BMGC_DS00004,BMG_DS000004,MeSH: The retention in the UTERUS of a dead FETUS two months or more after its DEATH.
+BMGC_DS00005,BMG_DS000005,"MeSH: UTERINE BLEEDING from a GESTATION of less than 20 weeks without any CERVICAL DILATATION. It is characterized by vaginal bleeding, lower back discomfort, or midline pelvic cramping and a risk factor for MISCARRIAGE."
+BMGC_DS00006,BMG_DS000006,MeSH: Premature expulsion of the FETUS in animals.
+BMGC_DS00007,BMG_DS000007,"MONDO: Vaginal bleeding preceding the 20th week of gestation. | MeSH: Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH."
+BMGC_DS00008,BMG_DS000008,"MONDO: An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body. | MeSH: Accumulation of purulent material in tissues, organs, or circumscribed spaces, usually associated with signs of infection."
+BMGC_DS00009,BMG_DS000009,"MONDO: Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear. | MeSH: Infection of the cornea by an ameboid protozoan which may cause corneal ulceration leading to blindness."
+BMGC_DS00010,BMG_DS000010,"MONDO: A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy. | MeSH: A circumscribed melanosis consisting of a brown-pigmented, velvety verrucosity or fine papillomatosis appearing in the axillae and other body folds. It occurs in association with endocrine disorders, underlying malignancy, administration of certain drugs, or as in inherited disorder."
+BMGC_DS00011,BMG_DS000011,MONDO: Absence of hydrochloric acid in the gastric juice. | MeSH: A lack of HYDROCHLORIC ACID in GASTRIC JUICE despite stimulation of gastric secretion.
+BMGC_DS00012,BMG_DS000012,"NCI: A rare group of disorders characterized by defective development of bones and cartilage. | MONDO: Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2."
+BMGC_DS00013,BMG_DS000013,"MONDO: Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. | MeSH: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)"
+BMGC_DS00014,BMG_DS000014,"MONDO: An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. | MeSH: A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up."
+BMGC_DS00015,BMG_DS000015,MONDO: Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. | MONDO: An instance of lactic acidosis that is acquired during the lifetime of the individual. | MeSH: Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.
+BMGC_DS00016,BMG_DS000016,"MONDO: A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. | MeSH: A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS."
+BMGC_DS00017,BMG_DS000017,MeSH: Respiratory retention of carbon dioxide. It may be chronic or acute.
+BMGC_DS00018,BMG_DS000018,MONDO: Infections with bacteria of the genus acinetobacter. | MeSH: Infections with bacteria of the genus ACINETOBACTER.
+BMGC_DS00019,BMG_DS000020,"MeSH: A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors."
+BMGC_DS00020,BMG_DS000022,"MONDO: A disease involving the vestibulocochlear nerve. | MeSH: Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS."
+BMGC_DS00021,BMG_DS000024,"MONDO: A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. | MeSH: An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993."
+BMGC_DS00022,BMG_DS000025,"NCI: An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. | MONDO: Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly."
+BMGC_DS00023,BMG_DS000026,"MONDO: An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected. | MeSH: Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome."
+BMGC_DS00024,BMG_DS000028,"MONDO: Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. | MeSH: A condition caused by prolonged exposure to excessive HUMAN GROWTH HORMONE in adults. It is characterized by bony enlargement of the FACE; lower jaw (PROGNATHISM); hands; FEET; HEAD; and THORAX. The most common etiology is a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. (From Joynt, Clinical Neurology, 1992, Ch36, pp79-80)"
+BMGC_DS00025,BMG_DS000029,
+BMGC_DS00026,BMG_DS000030,"MONDO: A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) | MeSH: Symptom complex due to ACTH production by non-pituitary neoplasms."
+BMGC_DS00027,BMG_DS000034,"MONDO: Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. | MeSH: Infections with bacteria of the genus ACTINOMYCES."
+BMGC_DS00028,BMG_DS000035,
+BMGC_DS00029,BMG_DS000036,"MONDO: A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. | MeSH: A form of ACTINOMYCOSIS characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses."
+BMGC_DS00030,BMG_DS000039,NCI: Acute hepatitis resulting from ingestion of alcohol.
+BMGC_DS00031,BMG_DS000040,
+BMGC_DS00032,BMG_DS000041,NCI: Atopic conjunctivitis that is of relatively short duration and that has a rapid onset. | MONDO: Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.
+BMGC_DS00033,BMG_DS000043,MONDO: Disease having a short and relatively severe course. | MeSH: Disease having a short and relatively severe course.
+BMGC_DS00034,BMG_DS000044,"NCI: An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. | MONDO: An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness."
+BMGC_DS00035,BMG_DS000045,"MeSH: An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4)"
+BMGC_DS00036,BMG_DS000046,"NCI: An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. | MONDO: An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. | MeSH: INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis."
+BMGC_DS00037,BMG_DS000047,NCI: An acute inflammatory process that affects the tissues that surround and support the teeth. | MONDO: An acute inflammatory process that affects the tissues that surround and support the teeth.
+BMGC_DS00038,BMG_DS000048,"NCI: An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. | MONDO: An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache."
+BMGC_DS00039,BMG_DS000049,NCI: Acute inflammation of the thyroid gland. | MONDO: Acute form of thyroiditis (disease).
+BMGC_DS00040,BMG_DS000051,NCI: Ischemia of the intestine that is rapid in onset. | MONDO: Ischemia of the intestine that is rapid in onset.
+BMGC_DS00041,BMG_DS000053,"MONDO: An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery. | MeSH: A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to BRADYCARDIA and drop in CARDIAC OUTPUT. When the cardiac output becomes too low, the patient faints (SYNCOPE). In some cases, the syncope attacks are transient and in others cases repetitive and persistent."
+BMGC_DS00042,BMG_DS000054,"MONDO: A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. | MeSH: An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES."
+BMGC_DS00043,BMG_DS000055,"MONDO: A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. | MeSH: A malignant epithelial tumor with a glandular organization."
+BMGC_DS00044,BMG_DS000056,"MONDO: A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. | MeSH: An adenocarcinoma containing finger-like processes of vascular connective tissue covered by neoplastic epithelium, projecting into cysts or the cavity of glands or follicles. It occurs most frequently in the ovary and thyroid gland. (Stedman, 25th ed)"
+BMGC_DS00045,BMG_DS000057,"MONDO: A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported. | MeSH: A benign neoplasm composed of glandular and fibrous tissues, with a relatively large proportion of glands. (Stedman, 25th ed)"
+BMGC_DS00046,BMG_DS000060,"MONDO: A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. | MeSH: A benign epithelial tumor with a glandular organization."
+BMGC_DS00047,BMG_DS000061,"MONDO: An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. | MeSH: A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)"
+BMGC_DS00048,BMG_DS000062,MONDO: An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes. | MeSH: A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes.
+BMGC_DS00049,BMG_DS000063,"MONDO: An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes. | MeSH: A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)"
+BMGC_DS00050,BMG_DS000064,"MONDO: A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites. | MeSH: A malignant neoplasm arising simultaneously or consecutively in mesodermal tissue and glandular epithelium of the same part. (Stedman, 25th ed)"
+BMGC_DS00051,BMG_DS000065,
+BMGC_DS00052,BMG_DS000068,"MONDO: A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye. | MeSH: A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)"
+BMGC_DS00053,BMG_DS000069,"MONDO: Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy. | MeSH: A rare disease characterized by multiple tumor-like fatty deposits that press on nerves in various sites causing pain and weakness. Often these lipoma-like structures are located on the trunk and limbs but not on the face and hands."
+BMGC_DS00054,BMG_DS000073,MONDO: A disease involving the adrenal cortex. | MeSH: Pathological processes of the ADRENAL CORTEX.
+BMGC_DS00055,BMG_DS000074,MONDO: A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) | MeSH: Tumors or cancers of the ADRENAL CORTEX.
+BMGC_DS00056,BMG_DS000075,MeSH: Pathological processes of the ADRENAL GLANDS.
+BMGC_DS00057,BMG_DS000076,MONDO: Excess production of adrenal cortex hormones. | MeSH: Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM.
+BMGC_DS00058,BMG_DS000077,MONDO: A neoplasm (disease) that involves the adrenal gland. | MeSH: Tumors or cancer of the ADRENAL GLANDS.
+BMGC_DS00059,BMG_DS000078,"MONDO: Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease. | MeSH: A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders."
+BMGC_DS00060,BMG_DS000081,"MONDO: A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid. | MeSH: A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid."
+BMGC_DS00061,BMG_DS000082,MeSH: A deficiency or absence of FIBRINOGEN in the blood.
+BMGC_DS00062,BMG_DS000085,MONDO: A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. | MeSH: An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
+BMGC_DS00063,BMG_DS000086,"MeSH: Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis."
+BMGC_DS00064,BMG_DS000087,"MONDO: Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. | MeSH: A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone."
+BMGC_DS00065,BMG_DS000088,"MONDO: A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes. | MeSH: Loss of the ability to comprehend the meaning or recognize the importance of various forms of stimulation that cannot be attributed to impairment of a primary sensory modality. Tactile agnosia is characterized by an inability to perceive the shape and nature of an object by touch alone, despite unimpaired sensation to light touch, position, and other primary sensory modalities."
+BMGC_DS00066,BMG_DS000089,"MONDO: An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. | MeSH: Obsessive, persistent, intense fear of places or situations from which escape might be difficult or embarrassing."
+BMGC_DS00067,BMG_DS000090,"MONDO: A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. | MeSH: A decrease in the number of GRANULOCYTES; (BASOPHILS; EOSINOPHILS; and NEUTROPHILS)."
+BMGC_DS00068,BMG_DS000092,"MeSH: Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops."
+BMGC_DS00069,BMG_DS000093,"MONDO: A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) | MeSH: A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)"
+BMGC_DS00070,BMG_DS000095,"MONDO: Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation. | MeSH: Spontaneous autoamputation of the fourth or fifth toe."
+BMGC_DS00071,BMG_DS000096,"NCI: A sensation of discomfort associated with air travel that may include nausea, vomiting, dizziness, or sweating. | MeSH: Disorder caused by motion. It includes sea sickness, train sickness, roller coaster rides, rocking chair, hammock swing, car sickness, air sickness, or SPACE MOTION SICKNESS. Symptoms include nausea, vomiting and/or dizziness."
+BMGC_DS00072,BMG_DS000097,"MONDO: Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent. | MeSH: Any hindrance to the passage of air into and out of the lungs."
+BMGC_DS00073,BMG_DS000098,"MONDO: A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67) | MeSH: A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral FRONTAL LOBE dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)"
+BMGC_DS00074,BMG_DS000099,"MeSH: A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)"
+BMGC_DS00075,BMG_DS000100,"NCI: A orthopoxvirus that causes a milder clinical syndrome than smallpox. | MONDO: A orthopoxvirus that causes a milder clinical syndrome than smallpox. | MeSH: An acute, highly contagious, often fatal infectious disease caused by an orthopoxvirus characterized by a biphasic febrile course and distinctive progressive skin eruptions. Vaccination has succeeded in eradicating smallpox worldwide. (Dorland, 28th ed)"
+BMGC_DS00076,BMG_DS000101,"MONDO: A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. | MeSH: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair."
+BMGC_DS00077,BMG_DS000103,"MONDO: An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) | MeSH: An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)"
+BMGC_DS00078,BMG_DS000104,"MONDO: Physical and psychological dependence on alcohol. | MeSH: A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)"
+BMGC_DS00079,BMG_DS000105,"MONDO: A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. | MONDO: A human disease caused by infection with Aleutian mink disease parvovirus. | MeSH: A slow progressive disease of mink caused by the ALEUTIAN MINK DISEASE VIRUS. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible."
+BMGC_DS00080,BMG_DS000106,"HPO: An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. [https://orcid.org/0000-0002-0736-9199] | MONDO: A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases."
+BMGC_DS00081,BMG_DS000107,"HPO: Alexithymia is characterized by an impaired ability to be aware of, explicitly identify, and describe one's feelings. [PMID:34389125] | MONDO: An agnosia that is a deficiency in understanding, processing, or describing emotions."
+BMGC_DS00082,BMG_DS000108,MeSH: A pathological condition that removes acid or adds base to the body fluids.
+BMGC_DS00083,BMG_DS000109,"MONDO: A metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). | MeSH: An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS."
+BMGC_DS00084,BMG_DS000111,NCI: Allergic rhinitis with a positive skin prick test (SPT equal or greater than 3 mm) to any allergen.
+BMGC_DS00085,BMG_DS000114,"MONDO: Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. | MeSH: Absence of hair from areas where it is normally present."
+BMGC_DS00086,BMG_DS000115,MONDO: Loss of scalp and body hair involving microscopically inflammatory patchy areas. | MeSH: Loss of scalp and body hair involving microscopically inflammatory patchy areas.
+BMGC_DS00087,BMG_DS000116,"MONDO: A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma. | MeSH: A disease of the pilosebaceous unit, presenting clinically as grouped follicular papules or plaques with associated hair loss. It is caused by mucinous infiltration of tissues, and usually involving the scalp, face, and neck. It may be primary (idiopathic) or secondary to mycosis fungoides or reticulosis."
+BMGC_DS00088,BMG_DS000123,"MONDO: An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. | MeSH: A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted."
+BMGC_DS00089,BMG_DS000124,MONDO: Multiple symptoms associated with reduced oxygen at high altitude. | MeSH: Multiple symptoms associated with reduced oxygen at high ALTITUDE.
+BMGC_DS00090,BMG_DS000125,MeSH: Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE.
+BMGC_DS00091,BMG_DS000126,"MONDO: Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. | MeSH: A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis."
+BMGC_DS00092,BMG_DS000127,"MONDO: A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. | MeSH: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)"
+BMGC_DS00093,BMG_DS000128,"MONDO: Decreased vision that results from abnormal visual development. | MeSH: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications."
+BMGC_DS00094,BMG_DS000129,
+BMGC_DS00095,BMG_DS000130,"MONDO: A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. | MeSH: Infection with any of various amebae. It is an asymptomatic carrier state in most individuals, but diseases ranging from chronic, mild diarrhea to fulminant dysentery may occur."
+BMGC_DS00096,BMG_DS000134,"MONDO: The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize. | MeSH: An immature epithelial tumor of the JAW originating from the epithelial rests of Malassez or from other epithelial remnants of the ENAMEL from the developmental period. It is a slowly growing tumor, usually benign, but displays a marked propensity for invasive growth."
+BMGC_DS00097,BMG_DS000135,"MONDO: Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. | MeSH: A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION."
+BMGC_DS00098,BMG_DS000136,MONDO: The absence of menses in a woman who has achieved reproductive age. | MeSH: Absence of menstruation.
+BMGC_DS00099,BMG_DS000137,"MeSH: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life."
+BMGC_DS00100,BMG_DS000138,MONDO: A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. | MeSH: A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
+BMGC_DS00101,BMG_DS000139,"MeSH: Pathologic partial or complete loss of the ability to recall past experiences (AMNESIA, RETROGRADE) or to form new memories (AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)"
+BMGC_DS00102,BMG_DS000140,"MONDO: The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected. | MeSH: Loss of the ability to recall information that had been previously encoded in memory prior to a specified or approximate point in time. This process may be organic or psychogenic in origin. Organic forms may be associated with CRANIOCEREBRAL TRAUMA; CEREBROVASCULAR ACCIDENTS; SEIZURES; DEMENTIA; and a wide variety of other conditions that impair cerebral function. (From Adams et al., Principles of Neurology, 6th ed, pp426-9)"
+BMGC_DS00103,BMG_DS000141,"MONDO: Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories."
+BMGC_DS00104,BMG_DS000142,NCI: Inflammation of the amnion. | MONDO: Inflammation of the amnion.
+BMGC_DS00105,BMG_DS000145,"MONDO: A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. | MeSH: A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits."
+BMGC_DS00106,BMG_DS000146,"MeSH: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA."
+BMGC_DS00107,BMG_DS000147,"MONDO: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. | MeSH: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)"
+BMGC_DS00108,BMG_DS000148,MONDO: Tumors or cancer of the anal gland. | MeSH: Tumors or cancer of the anal gland.
+BMGC_DS00109,BMG_DS000149,"MeSH: A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)"
+BMGC_DS00110,BMG_DS000152,"MONDO: Infection by hookworms of the genus Ancylostoma. | MeSH: Infection of humans or animals with hookworms of the genus ANCYLOSTOMA. Characteristics include anemia, dyspepsia, eosinophilia, and abdominal swelling."
+BMGC_DS00111,BMG_DS000153,"MONDO: A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. | MeSH: A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN."
+BMGC_DS00112,BMG_DS000155,"MONDO: Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. | MeSH: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements."
+BMGC_DS00113,BMG_DS000156,NCI: The most severe form of beta thalassemia that is characterized by the lack of functional beta-globin chain production resulting in the absence of hemoglobin A. | MONDO: Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.
+BMGC_DS00114,BMG_DS000157,"MONDO: Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA. | MeSH: A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test."
+BMGC_DS00115,BMG_DS000158,"MONDO: Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. | MeSH: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES)."
+BMGC_DS00116,BMG_DS000159,"NCI: Hemolytic anemia, the cause of which is not present at birth. | MeSH: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES)."
+BMGC_DS00117,BMG_DS000160,MONDO: Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia. | MeSH: Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
+BMGC_DS00118,BMG_DS000161,"MONDO: A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. | MeSH: Hemolytic anemia due to various intrinsic defects of the erythrocyte."
+BMGC_DS00119,BMG_DS000162,MONDO: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. | MeSH: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
+BMGC_DS00120,BMG_DS000163,MeSH: Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
+BMGC_DS00121,BMG_DS000164,"MONDO: Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. | MeSH: Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)"
+BMGC_DS00122,BMG_DS000165,"MONDO: Anemia that is characterized by increased red blood cell volume. | MeSH: Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)."
+BMGC_DS00123,BMG_DS000166,"MONDO: Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. | MeSH: A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS."
+BMGC_DS00124,BMG_DS000167,MeSH: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
+BMGC_DS00125,BMG_DS000168,"MONDO: A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells. | MeSH: Anemia characterized by appearance of immature myeloid and nucleated erythrocytes in the peripheral blood, resulting from infiltration of the bone marrow by foreign or abnormal tissue."
+BMGC_DS00126,BMG_DS000169,MONDO: The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation. | MeSH: The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.
+BMGC_DS00127,BMG_DS000170,"MONDO: Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. | MeSH: A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (Dorland, 27th ed)"
+BMGC_DS00128,BMG_DS000172,"MONDO: Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. | MeSH: A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S."
+BMGC_DS00129,BMG_DS000173,"MONDO: A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias. | MeSH: Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow."
+BMGC_DS00130,BMG_DS000174,"MeSH: Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy."
+BMGC_DS00131,BMG_DS000175,"MONDO: A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. | MeSH: A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)"
+BMGC_DS00132,BMG_DS000176,"MONDO: Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set. | MeSH: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1)."
+BMGC_DS00133,BMG_DS000177,"MeSH: Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics."
+BMGC_DS00134,BMG_DS000178,"NCI: A tear within the wall of the artery. | MeSH: A tear or separation of the layers by a blood vessel typically involving vessels under pressure, i.e., ARTERIES, e.g., AORTA. Tearing of the TUNICA INTIMA layer of a blood vessel may lead to interstitial HEMORRHAGE. Dissection between the tunica intima and TUNICA MEDIA causes luminal occlusion. Dissection at the media, or between the media and the outer ADVENTITIA causes aneurismal dilation."
+BMGC_DS00135,BMG_DS000181,"MONDO: A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma. | MeSH: A clinical syndrome characterized by the development of CHEST PAIN at rest with concomitant transient ST segment elevation in the ELECTROCARDIOGRAM, but with preserved exercise capacity."
+BMGC_DS00136,BMG_DS000182,"MONDO: Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. | MeSH: Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION."
+BMGC_DS00137,BMG_DS000183,MONDO: Small breaks in the elastin-filled tissue of the retina. | MeSH: Small breaks in the elastin-filled tissue of the retina.
+BMGC_DS00138,BMG_DS000184,MONDO: A angioid streaks that involves the optic choroid.
+BMGC_DS00139,BMG_DS000185,"MONDO: A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli). | MeSH: A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis."
+BMGC_DS00140,BMG_DS000186,"MONDO: Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. | MeSH: An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders."
+BMGC_DS00141,BMG_DS000187,"MONDO: A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells. | MeSH: Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells."
+BMGC_DS00142,BMG_DS000188,"MONDO: A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern."
+BMGC_DS00143,BMG_DS000190,"MONDO: Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx. | MeSH: Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx."
+BMGC_DS00144,BMG_DS000191,"HPO: Inability to sweat. [https://orcid.org/0000-0002-0736-9199] | MONDO: OBSOLETE. Reduced sweating. Causes include burns, dehydration, radiation, and leprosy. | MONDO: Lack of sweating or the ability to sweat when provoked by the appropriate stimulus. | MeSH: Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions."
+BMGC_DS00145,BMG_DS000193,"MONDO: Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). | MeSH: A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant."
+BMGC_DS00146,BMG_DS000196,MONDO: A condition of an inequality of refractive power of the two eyes. | MeSH: A condition of an inequality of refractive power of the two eyes.
+BMGC_DS00147,BMG_DS000197,
+BMGC_DS00148,BMG_DS000198,MONDO: Fixation and immobility of a joint. | MeSH: Fixation and immobility of a joint.
+BMGC_DS00149,BMG_DS000201,"MONDO: Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people. | MeSH: A language dysfunction characterized by the inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. This condition is associated with lesions of the dominant hemisphere involving the language areas, in particular the TEMPORAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, p484)"
+BMGC_DS00150,BMG_DS000202,MeSH: The lack or loss of APPETITE accompanied by an aversion to food and the inability to eat. It is the defining characteristic of the disorder ANOREXIA NERVOSA.
+BMGC_DS00151,BMG_DS000203,"MONDO: A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. | MeSH: An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994)"
+BMGC_DS00152,BMG_DS000204,MONDO: Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions.
+BMGC_DS00153,BMG_DS000205,"MONDO: The absence of ovulation. | MeSH: Suspension or cessation of OVULATION in animals or humans with follicle-containing ovaries (OVARIAN FOLLICLE). Depending on the etiology, OVULATION may be induced with appropriate therapy."
+BMGC_DS00154,BMG_DS000206,"MONDO: Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion. | MeSH: Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION."
+BMGC_DS00155,BMG_DS000207,MONDO: Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath. | MeSH: A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung.
+BMGC_DS00156,BMG_DS000208,"MONDO: A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners. | MeSH: A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers."
+BMGC_DS00157,BMG_DS000209,"MONDO: An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers. | MeSH: An acute infection caused by the spore-forming bacteria BACILLUS ANTHRACIS. It commonly affects hoofed animals such as sheep and goats. Infection in humans often involves the skin (cutaneous anthrax), the lungs (inhalation anthrax), or the gastrointestinal tract. Anthrax is not contagious and can be treated with antibiotics."
+BMGC_DS00158,BMG_DS000210,"MONDO: An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center."
+BMGC_DS00159,BMG_DS000211,"MeSH: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."
+BMGC_DS00160,BMG_DS000212,"MONDO: A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV) | MeSH: A personality disorder whose essential feature is a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. The individual must be at least age 18 and must have a history of some symptoms of CONDUCT DISORDER before age 15. (From DSM-IV, 1994)."
+BMGC_DS00161,BMG_DS000213,"MONDO: Absence of urine output. | MeSH: Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present."
+BMGC_DS00162,BMG_DS000214,"MONDO: A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. | MeSH: Diseases involving the ANUS."
+BMGC_DS00163,BMG_DS000215,"MONDO: A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma. | MeSH: Tumors or cancer of the ANAL CANAL."
+BMGC_DS00164,BMG_DS000216,"MONDO: A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. | MeSH: A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME."
+BMGC_DS00165,BMG_DS000217,"MeSH: Feelings or emotions of dread, apprehension, and impending disaster but not disabling as with ANXIETY DISORDERS."
+BMGC_DS00166,BMG_DS000218,MONDO: A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. | MeSH: Persistent and disabling ANXIETY.
+BMGC_DS00167,BMG_DS000219,"MONDO: An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. | MeSH: Anxiety experienced by an individual upon separation from a person or object of particular significance to the individual."
+BMGC_DS00168,BMG_DS000220,MONDO: A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. | MeSH: An abnormal balloon- or sac-like dilatation in the wall of AORTA.
+BMGC_DS00169,BMG_DS000221,"MeSH: Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots."
+BMGC_DS00170,BMG_DS000222,"MONDO: Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. | MeSH: A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion."
+BMGC_DS00171,BMG_DS000223,"MONDO: Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) | MeSH: Pathological processes involving any part of the AORTA."
+BMGC_DS00172,BMG_DS000224,"MeSH: The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA."
+BMGC_DS00173,BMG_DS000225,"MONDO: SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. | MeSH: A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA."
+BMGC_DS00174,BMG_DS000227,"MONDO: Dysfunction of the aortic valve characterized by incomplete valve closure. | MeSH: Pathological condition characterized by the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to regurgitation. It is caused by diseases of the AORTIC VALVE or its surrounding tissue (aortic root)."
+BMGC_DS00175,BMG_DS000228,"MONDO: The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation. | MeSH: The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation."
+BMGC_DS00176,BMG_DS000229,"MONDO: Aortic valve stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body. AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur. Individuals with less severe congenital AVS (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever. | MeSH: A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA."
+BMGC_DS00177,BMG_DS000230,"MONDO: Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders. | MeSH: Inflammation of the wall of the AORTA."
+BMGC_DS00178,BMG_DS000231,"MeSH: A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy."
+BMGC_DS00179,BMG_DS000234,"MONDO: A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. | MeSH: A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia."
+BMGC_DS00180,BMG_DS000235,MONDO: A benign or malignant neoplasm involving the appendix. | MeSH: Tumors or cancer of the APPENDIX.
+BMGC_DS00181,BMG_DS000236,"MONDO: Acute inflammation of the vermiform appendix. | MeSH: Acute inflammation of the APPENDIX. Acute appendicitis is classified as simple, gangrenous, or perforated."
+BMGC_DS00182,BMG_DS000237,"MONDO: Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition."
+BMGC_DS00183,BMG_DS000238,"MONDO: Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. | MeSH: Acute or chronic inflammation of the arachnoid membrane of the meninges most often involving the spinal cord or base of the brain. This term generally refers to a persistent inflammatory process characterized by thickening of the ARACHNOID membrane and dural adhesions. Associated conditions include prior surgery, infections, trauma, SUBARACHNOID HEMORRHAGE, and chemical irritation. Clinical features vary with the site of inflammation, but include cranial neuropathies, radiculopathies, and myelopathies. (From Joynt, Clinical Neurology, 1997, Ch48, p25)"
+BMGC_DS00184,BMG_DS000240,"MONDO: A viral infection that is transmitted by an arthropod. | MeSH: Infections caused by arthropod-borne viruses, general or unspecified."
+BMGC_DS00185,BMG_DS000241,MONDO: A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera. | MeSH: A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.
+BMGC_DS00186,BMG_DS000242,MONDO: Virus diseases caused by the arenaviridae. | MeSH: Virus diseases caused by the ARENAVIRIDAE.
+BMGC_DS00187,BMG_DS000243,MONDO: A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.
+BMGC_DS00188,BMG_DS000245,"MONDO: Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. | MeSH: Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction."
+BMGC_DS00189,BMG_DS000247,MeSH: Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency.
+BMGC_DS00190,BMG_DS000249,"MONDO: A vascular disorder characterized by thickening and hardening of the walls of the arteries. | MeSH: Thickening and loss of elasticity of the walls of ARTERIES of all sizes. There are many forms classified by the types of lesions and arteries involved, such as ATHEROSCLEROSIS with fatty lesions in the ARTERIAL INTIMA of medium and large muscular arteries."
+BMGC_DS00191,BMG_DS000250,"MONDO: Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension. | MeSH: Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION."
+BMGC_DS00192,BMG_DS000251,MONDO: An inflammatory process affecting an artery. | MeSH: INFLAMMATION of any ARTERIES.
+BMGC_DS00193,BMG_DS000253,"MONDO: An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. | MeSH: Acute or chronic inflammation of JOINTS."
+BMGC_DS00194,BMG_DS000254,"MeSH: Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipitated by trauma, infection, surgery, etc. The initial attacks are usually monoarticular but later attacks are often polyarticular. Acute and chronic gouty arthritis are associated with accumulation of MONOSODIUM URATE in and around affected joints."
+BMGC_DS00195,BMG_DS000255,"MONDO: The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. | MeSH: Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES."
+BMGC_DS00196,BMG_DS000256,"MONDO: Joint inflammation associated with psoriasis. | MeSH: A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor."
+BMGC_DS00197,BMG_DS000257,"MONDO: A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. | MeSH: A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated."
+BMGC_DS00198,BMG_DS000259,MeSH: Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES.
+BMGC_DS00199,BMG_DS000261,"MONDO: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed) | MeSH: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)"
+BMGC_DS00200,BMG_DS000262,"MONDO: A localized vasculitis resulting from deposition of antibody-antigen complexes. | MeSH: A dermal inflammatory reaction produced under conditions of antibody excess, when a second injection of antigen produces intravascular antigen-antibody complexes which bind complement, causing cell clumping, endothelial damage, and vascular necrosis."
+BMGC_DS00201,BMG_DS000263,"MONDO: A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants). | MeSH: Disorders of the quality of speech characterized by the substitution, omission, distortion, and addition of phonemes."
+BMGC_DS00202,BMG_DS000264,"MONDO: A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain. | MeSH: A form of pneumoconiosis caused by inhalation of asbestos fibers which elicit potent inflammatory responses in the parenchyma of the lung. The disease is characterized by interstitial fibrosis of the lung, varying from scattered sites to extensive scarring of the alveolar interstitium."
+BMGC_DS00203,BMG_DS000265,"MONDO: An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. | MeSH: Infection by nematodes of the genus ASCARIS. Ingestion of infective eggs causes diarrhea and pneumonitis. Its distribution is more prevalent in areas of poor sanitation and where human feces are used for fertilizer."
+BMGC_DS00204,BMG_DS000266,"MONDO: Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea. | MeSH: Infection with nematodes of the genus ASCARIDIA. This condition usually occurs in fowl, often manifesting diarrhea."
+BMGC_DS00205,BMG_DS000267,MeSH: Accumulation or retention of free fluid within the peritoneal cavity.
+BMGC_DS00206,BMG_DS000268,"MeSH: A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)"
+BMGC_DS00207,BMG_DS000269,NCI: Aseptic necrosis involving the head and neck of the femur.
+BMGC_DS00208,BMG_DS000270,"MONDO: Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas. | MeSH: Infections with fungi of the genus ASPERGILLUS."
+BMGC_DS00209,BMG_DS000271,"MeSH: Hypersensitivity reaction (ALLERGIC REACTION) to fungus ASPERGILLUS in an individual with long-standing BRONCHIAL ASTHMA. It is characterized by pulmonary infiltrates, EOSINOPHILIA, elevated serum IMMUNOGLOBULIN E, and skin reactivity to Aspergillus antigen."
+BMGC_DS00210,BMG_DS000273,"MONDO: A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process. | MeSH: Respiratory failure in the newborn. (Dorland, 27th ed)"
+BMGC_DS00211,BMG_DS000277,"MONDO: A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. | MeSH: A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL)."
+BMGC_DS00212,BMG_DS000279,"MONDO: Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed) | MeSH: Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in  REFRACTIVE ERROR. | MeSH: Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in REFRACTIVE ERROR."
+BMGC_DS00213,BMG_DS000280,"MONDO: A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. | MeSH: Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)"
+BMGC_DS00214,BMG_DS000281,"MONDO: Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. | MeSH: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23)."
+BMGC_DS00215,BMG_DS000282,"MONDO: An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. | MeSH: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked."
+BMGC_DS00216,BMG_DS000283,MONDO: Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. | MeSH: A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.
+BMGC_DS00217,BMG_DS000285,"MeSH: A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY. (From Adams et al., Principles of Neurology, 6th ed, p76)"
+BMGC_DS00218,BMG_DS000288,"MONDO: A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) | MeSH: Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation."
+BMGC_DS00219,BMG_DS000289,"MONDO: A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) | MeSH: Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)."
+BMGC_DS00220,BMG_DS000290,MONDO: A heart block that is initiated in the atrioventricular node. | MeSH: Impaired impulse conduction from HEART ATRIA to HEART VENTRICLES. AV block can mean delayed or completely blocked impulse conduction.
+BMGC_DS00221,BMG_DS000293,"NCI: An electrocardiographic finding in which the electrical activity of the atria and ventricles are independent of one another. (CDISC) | MONDO: Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects."
+BMGC_DS00222,BMG_DS000294,MONDO: Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. | MeSH: A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)
+BMGC_DS00223,BMG_DS000295,"MONDO: A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). | MeSH: Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides."
+BMGC_DS00224,BMG_DS000296,NCI: A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection. | MONDO: A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection.
+BMGC_DS00225,BMG_DS000298,MONDO: A male infertility disease characterized by the absence of any measurable level of sperm in semen. | MeSH: A condition of having no sperm present in the ejaculate (SEMEN).
+BMGC_DS00226,BMG_DS000299,"MONDO: Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms. | MeSH: A group of tick-borne diseases of mammals including ZOONOSES in humans. They are caused by protozoa of the genus BABESIA, which parasitize erythrocytes, producing hemolysis. In the U.S., the organism's natural host is mice and transmission is by the deer tick IXODES SCAPULARIS."
+BMGC_DS00227,BMG_DS000300,"NCI: An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels. | MONDO: An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels."
+BMGC_DS00228,BMG_DS000301,
+BMGC_DS00229,BMG_DS000302,"MONDO: An infectious disease caused by bacteria causing sepsis. | MeSH: The presence of viable bacteria circulating in the blood. Fever, chills, tachycardia, and tachypnea are common acute manifestations of bacteremia. The majority of cases are seen in already hospitalized patients, most of whom have underlying diseases or procedures which render their bloodstreams susceptible to invasion."
+BMGC_DS00230,BMG_DS000305,"MONDO: An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. | MeSH: Infections by bacteria, general or unspecified."
+BMGC_DS00231,BMG_DS000306,"MONDO: Acute infection of the lung parenchyma caused by bacteria (e.g., Streptococcus pneumoniae, Haemophilus influenzae, Chlamydia pneumoniae, Mycoplasma pneumoniae, and Legionella pneumophila). Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. | MeSH: Inflammation of the lung parenchyma that is caused by bacterial infections."
+BMGC_DS00232,BMG_DS000307,MONDO: The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection. | MeSH: The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the URINARY TRACT and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.
+BMGC_DS00233,BMG_DS000309,"MONDO: An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis. | MeSH: A diffuse parenchymal lung disease caused by inhalation of dust and by tissue reaction to their presence. These inorganic, organic, particulate, or vaporized matters usually are inhaled by workers in their occupational environment, leading to the various forms (ASBESTOSIS; BYSSINOSIS; and others). Similar air pollution can also have deleterious effects on the general population."
+BMGC_DS00234,BMG_DS000310,"MONDO: An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge. | MeSH: Inflammation of the head of the PENIS, glans penis."
+BMGC_DS00235,BMG_DS000311,
+BMGC_DS00236,BMG_DS000312,MONDO: Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer. | MeSH: Infection by parasites of the genus BALANTIDIUM. The presence of Balantidium in the LARGE INTESTINE leads to DIARRHEA; DYSENTERY; and occasionally ULCER.
+BMGC_DS00237,BMG_DS000313,"MONDO: A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. | MeSH: A form of chronic interstitial nephritis that is endemic to limited areas of BULGARIA, the former YUGOSLAVIA, and ROMANIA. It is characterized by a progressive shrinking of the KIDNEYS that is often associated with uroepithelial tumors."
+BMGC_DS00238,BMG_DS000314,"ORPHANET: A rare multiple sclerosis variant characterized by discrete concentrically layered, ring-like lesions in the cerebral white matter, consisting of alternating layers of myelinated and demyelinated tissue. Patients most commonly present with symptoms of an intracerebral mass lesion, including headache, cognitive abnormalities, behavioral changes, seizures, aphasia, or hemiparesis, among others, although there may also be classic focal symptoms of multiple sclerosis, such as focal weakness, ataxia, sensory disturbance, or diplopia. | MONDO: Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity. | MeSH: A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)"
+BMGC_DS00239,BMG_DS000316,"MONDO: Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) | MeSH: A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus."
+BMGC_DS00240,BMG_DS000317,"NCI: Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice. | MONDO: Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice."
+BMGC_DS00241,BMG_DS000319,"MONDO: An infectious disease produced by bacteria of the genus Bartonella. | MeSH: Infections by the genus BARTONELLA. Bartonella bacilliformis can cause acute febrile anemia, designated Oroya fever, and a benign skin eruption, called verruga peruana. BARTONELLA QUINTANA causes TRENCH FEVER, while BARTONELLA HENSELAE is the etiologic agent of bacillary angiomatosis (ANGIOMATOSIS, BACILLARY) and is also one of the causes of CAT-SCRATCH DISEASE."
+BMGC_DS00242,BMG_DS000321,"MONDO: Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. | MeSH: A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS."
+BMGC_DS00243,BMG_DS000322,"MONDO: A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. | MeSH: Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant."
+BMGC_DS00244,BMG_DS000323,MeSH: Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
+BMGC_DS00245,BMG_DS000324,"NCI: A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function. | MONDO: A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function. | MeSH: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated."
+BMGC_DS00246,BMG_DS000326,"MONDO: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. | MeSH: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities."
+BMGC_DS00247,BMG_DS000327,"MONDO: A disease that has its basis in the disruption of mental process. | MeSH: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function."
+BMGC_DS00248,BMG_DS000328,"MONDO: A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. | MeSH: Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well."
+BMGC_DS00249,BMG_DS000329,MONDO: An disease caused by infection with Treponema. | MONDO: A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. | MeSH: Infections with bacteria of the genus TREPONEMA.
+BMGC_DS00250,BMG_DS000330,"NCI: A neoplasm that arises from the colon and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO: A non-metastasizing neoplasm arising from the wall of the colon."
+BMGC_DS00251,BMG_DS000334,"MONDO: Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth. | MeSH: A disease caused by a deficiency of thiamine (vitamin B1) and characterized by polyneuritis, cardiac pathology, and edema. The epidemic form is found primarily in areas in which white (polished) rice is the staple food, as in Japan, China, the Philippines, India, and other countries of southeast Asia. (Dorland, 27th ed)"
+BMGC_DS00252,BMG_DS000335,"MONDO: Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. | MeSH: A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption."
+BMGC_DS00253,BMG_DS000337,"MeSH: A form of pneumoconiosis caused by inhaled rare metal BERYLLIUM or its soluble salts which are used in a wide variety of industry including alloys, ceramics, radiographic equipment, and vacuum tubes. Berylliosis is characterized by an acute inflammatory reaction in the upper airway leading to BRONCHIOLITIS; PULMONARY EDEMA; and pneumonia."
+BMGC_DS00254,BMG_DS000339,"MONDO: Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). | MeSH: A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent."
+BMGC_DS00255,BMG_DS000340,MONDO: A disease involving the bile duct. | MeSH: Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT.
+BMGC_DS00256,BMG_DS000341,MONDO: A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma. | MeSH: Tumors or cancer of the BILE DUCTS.
+BMGC_DS00257,BMG_DS000342,MONDO: Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. | MeSH: Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes.
+BMGC_DS00258,BMG_DS000343,MONDO: Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas. | MeSH: Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (DUODENOGASTRIC REFLUX); to the esophagus (GASTROESOPHAGEAL REFLUX); or to the PANCREAS.
+BMGC_DS00259,BMG_DS000344,"MONDO: A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occurring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool. | MeSH: Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE."
+BMGC_DS00260,BMG_DS000345,"MONDO: A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction. | MeSH: A motility disorder characterized by biliary COLIC, absence of GALLSTONES, and an abnormal GALLBLADDER ejection fraction. It is caused by gallbladder dyskinesia and/or SPHINCTER OF ODDI DYSFUNCTION."
+BMGC_DS00261,BMG_DS000346,MeSH: Diseases in any part of the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.
+BMGC_DS00262,BMG_DS000347,MONDO: A neoplasm that involves the biliary tract. | MeSH: Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.
+BMGC_DS00263,BMG_DS000349,NCI: Any inability to efficiently utilize and/or sustain binocular vision. | MONDO: Any inability to efficiently utilize and/or sustain binocular vision.
+BMGC_DS00264,BMG_DS000350,"MONDO: A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. | MeSH: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence."
+BMGC_DS00265,BMG_DS000351,MONDO: The depressive stage of bipolar disorder.
+BMGC_DS00266,BMG_DS000352,"MONDO: Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc. | MeSH: Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from POULTRY DISEASES which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc."
+BMGC_DS00267,BMG_DS000353,"MONDO: Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis. | MeSH: A form of alveolitis or pneumonitis due to an acquired hypersensitivity to inhaled avian antigens, usually proteins in the dust of bird feathers and droppings."
+BMGC_DS00268,BMG_DS000354,"MONDO: A complication of malaria resulting from hemolysis. | MeSH: A complication of MALARIA, FALCIPARUM characterized by the passage of dark red to black urine."
+BMGC_DS00269,BMG_DS000355,"MONDO: A concretion in the urinary bladder. | MeSH: Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths."
+BMGC_DS00270,BMG_DS000356,MONDO: A primary or metastatic malignant neoplasm involving the bladder.
+BMGC_DS00271,BMG_DS000357,MONDO: A disease involving the urinary bladder. | MeSH: Pathological processes of the URINARY BLADDER.
+BMGC_DS00272,BMG_DS000358,"MONDO: Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. | MeSH: A birth defect in which the URINARY BLADDER is malformed and exposed, inside out, and protruded through the ABDOMINAL WALL. It is caused by closure defects involving the top front surface of the bladder, as well as the lower abdominal wall; SKIN; MUSCLES; and the pubic bone."
+BMGC_DS00273,BMG_DS000359,"MONDO: Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. | MeSH: Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands."
+BMGC_DS00274,BMG_DS000360,"MONDO: A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003"
+BMGC_DS00275,BMG_DS000361,"MONDO: OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). | MeSH: Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES."
+BMGC_DS00276,BMG_DS000362,"MONDO: An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001). | MeSH: An advanced phase of chronic myelogenous leukemia, characterized by a rapid increase in the proportion of immature white blood cells (blasts) in the blood and bone marrow to greater than 30%."
+BMGC_DS00277,BMG_DS000363,"MONDO: Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. | MeSH: A fungal infection by BLASTOMYCES that may appear in two forms: 1, a primary lesion characterized by the formation of a small cutaneous nodule and small nodules along the lymphatics that may heal within several months; and 2, chronic granulomatous lesions characterized by thick crusts, warty growths, and unusual vascularity and infection in the middle or upper lobes of the lung."
+BMGC_DS00278,BMG_DS000364,"NCI: A pulmonary disease resulting from infection with Blastomyces dermatitidis, which is prevalent in North America. | MeSH: A fungal infection by BLASTOMYCES that may appear in two forms: 1, a primary lesion characterized by the formation of a small cutaneous nodule and small nodules along the lymphatics that may heal within several months; and 2, chronic granulomatous lesions characterized by thick crusts, warty growths, and unusual vascularity and infection in the middle or upper lobes of the lung."
+BMGC_DS00279,BMG_DS000369,MONDO: Inflammation of the eyelids near the eyelashes. | MeSH: Inflammation of the eyelids.
+BMGC_DS00280,BMG_DS000370,"HPO: Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. [PMID:3207663] | MONDO: An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins."
+BMGC_DS00281,BMG_DS000371,NCI: Inflammation of both the eyelids and the conjunctiva. | MONDO: Inflammation of both the eyelids and the conjunctiva.
+BMGC_DS00282,BMG_DS000372,"MONDO: The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed) | MeSH: The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)"
+BMGC_DS00283,BMG_DS000373,MONDO: The drooping of the upper eyelid. | MeSH: Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
+BMGC_DS00284,BMG_DS000374,MeSH: Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle.
+BMGC_DS00285,BMG_DS000375,"MONDO: A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis. | MeSH: A malabsorption syndrome that is associated with a blind loop in the upper SMALL INTESTINE that is characterized by the lack of peristaltic movement, stasis of INTESTINAL CONTENTS, and the overgrowth of BACTERIA. Such bacterial overgrowth interferes with BILE SALTS action, FATTY ACIDS processing, MICROVILLI integrity, and the ABSORPTION of nutrients such as VITAMIN B12 and FOLIC ACID."
+BMGC_DS00286,BMG_DS000376,MONDO: A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. | MeSH: Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions.
+BMGC_DS00287,BMG_DS000377,"MeSH: An antigenic mismatch between donor and recipient blood. Antibodies present in the recipient's serum may be directed against antigens in the donor product. Such a mismatch may result in a transfusion reaction in which, for example, donor blood is hemolyzed. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)."
+BMGC_DS00288,BMG_DS000378,MeSH: Disorders caused by abnormalities in platelet count or function.
+BMGC_DS00289,BMG_DS000379,MeSH: Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS.
+BMGC_DS00290,BMG_DS000380,"MONDO: Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. | MeSH: An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase."
+BMGC_DS00291,BMG_DS000383,MONDO: Diseases of bones. | MeSH: Diseases of BONES.
+BMGC_DS00292,BMG_DS000384,MONDO: A disease involving the bone development. | MeSH: Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.
+BMGC_DS00293,BMG_DS000385,MeSH: Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands.
+BMGC_DS00294,BMG_DS000387,"MONDO: A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease. | MeSH: Diseases that affect the METABOLIC PROCESSES of BONE TISSUE."
+BMGC_DS00295,BMG_DS000388,MeSH: Diseases involving the BONE MARROW.
+BMGC_DS00296,BMG_DS000389,MeSH: Tumors or cancer located in bone tissue or specific BONES.
+BMGC_DS00297,BMG_DS000390,"MONDO: A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. | MeSH: Bone loss due to osteoclastic activity."
+BMGC_DS00298,BMG_DS000392,"MONDO: A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior. | MeSH: A personality disorder marked by a pattern of instability of interpersonal relationships, self-image, and affects, and marked impulsivity beginning by early adulthood and present in a variety of contexts. (DSM-IV)"
+BMGC_DS00299,BMG_DS000393,MONDO: Any disease caused by infection with organisms of the genus Bordetella. | MeSH: Infections with bacteria of the genus BORDETELLA.
+BMGC_DS00300,BMG_DS000394,"MONDO: An encephalomyelitis of horses, sheep and cattle caused by borna disease virus. | MeSH: An encephalomyelitis of horses, sheep and cattle caused by BORNA DISEASE VIRUS."
+BMGC_DS00301,BMG_DS000397,"MONDO: A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure. | MeSH: A disease caused by potent protein NEUROTOXINS produced by CLOSTRIDIUM BOTULINUM which interfere with the presynaptic release of ACETYLCHOLINE at the NEUROMUSCULAR JUNCTION. Clinical features include abdominal pain, vomiting, acute PARALYSIS (including respiratory paralysis), blurred vision, and DIPLOPIA. Botulism may be classified into several subtypes (e.g., food-borne, infant, wound, and others). (From Adams et al., Principles of Neurology, 6th ed, p1208)"
+BMGC_DS00302,BMG_DS000398,"MONDO: An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii. | MeSH: A febrile disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with RICKETTSIA CONORII."
+BMGC_DS00303,BMG_DS000400,"MONDO: A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative. | MeSH: A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)"
+BMGC_DS00304,BMG_DS000401,
+BMGC_DS00305,BMG_DS000402,"MeSH: A circumscribed collection of purulent exudate in the brain, due to bacterial and other infections. The majority are caused by spread of infected material from a focus of suppuration elsewhere in the body, notably the PARANASAL SINUSES, middle ear (see EAR, MIDDLE); HEART (see also ENDOCARDITIS, BACTERIAL), and LUNG. Penetrating CRANIOCEREBRAL TRAUMA and NEUROSURGICAL PROCEDURES may also be associated with this condition. Clinical manifestations include HEADACHE; SEIZURES; focal neurologic deficits; and alterations of consciousness. (Adams et al., Principles of Neurology, 6th ed, pp712-6)"
+BMGC_DS00306,BMG_DS000403,"MeSH: A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions."
+BMGC_DS00307,BMG_DS000404,"MONDO: A disease affecting the brain or part of the brain. | MeSH: Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM."
+BMGC_DS00308,BMG_DS000405,"MeSH: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function."
+BMGC_DS00309,BMG_DS000406,"HPO: Abnormal accumulation of fluid in the brain. [https://orcid.org/0000-0002-0736-9199] | MONDO: Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)"
+BMGC_DS00310,BMG_DS000407,"MONDO: A neoplasm (disease) that involves the brain. | MeSH: Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain."
+BMGC_DS00311,BMG_DS000408,"HPO: Blockage of a branch of the retinal artery. This can cause loss of a section of visual field. [https://orcid.org/0000-0003-0986-4123, PMID:19376586] | MONDO: An occlusion of a branch of the retinal artery. | MeSH: Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye."
+BMGC_DS00312,BMG_DS000409,MONDO: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.
+BMGC_DS00313,BMG_DS000410,MONDO: A cystic lesion located in breast tissue.
+BMGC_DS00314,BMG_DS000411,MONDO: A disease involving the breast. | MeSH: Pathological processes of the BREAST.
+BMGC_DS00315,BMG_DS000413,"MONDO: A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii. | MeSH: The classic form of typhus, caused by RICKETTSIA PROWAZEKII, which is transmitted from man to man by the louse Pediculus humanus corporis. This disease is characterized by the sudden onset of intense headache, malaise, and generalized myalgia followed by the formation of a macular skin eruption and vascular and neurologic disturbances."
+BMGC_DS00316,BMG_DS000415,MONDO: A disease involving the bronchus. | MeSH: Diseases involving the BRONCHI.
+BMGC_DS00317,BMG_DS000416,MONDO: Tumors or cancer of the bronchi. | MeSH: Tumors or cancer of the BRONCHI.
+BMGC_DS00318,BMG_DS000417,MeSH: Spasmodic contraction of the smooth muscle of the bronchi.
+BMGC_DS00319,BMG_DS000418,"MONDO: Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. | MeSH: Persistent abnormal dilatation of the bronchi."
+BMGC_DS00320,BMG_DS000419,"MONDO: Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath. | MeSH: Inflammation of the BRONCHIOLES."
+BMGC_DS00321,BMG_DS000420,MONDO: A lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. | MeSH: Inflammation of the BRONCHIOLES leading to an obstructive lung disease. Bronchioles are characterized by fibrous granulation tissue with bronchial exudates in the lumens. Clinical features include a nonproductive cough and DYSPNEA.
+BMGC_DS00322,BMG_DS000421,"MeSH: An acute inflammatory disease of the lower RESPIRATORY TRACT, caused by paramyxoviruses, occurring primarily in infants and young children; the viruses most commonly implicated are PARAINFLUENZA VIRUS TYPE 3; RESPIRATORY SYNCYTIAL VIRUS, HUMAN; and METAPNEUMOVIRUS."
+BMGC_DS00323,BMG_DS000422,"MONDO: An acute or chronic inflammatory process affecting the bronchi. | MeSH: Inflammation of the large airways in the lung including any part of the BRONCHI, from the PRIMARY BRONCHI to the TERTIARY BRONCHI."
+BMGC_DS00324,BMG_DS000424,"MONDO: Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain. | MeSH: Inflammation of the lung parenchyma that is associated with BRONCHITIS, usually involving lobular areas from TERMINAL BRONCHIOLES to the PULMONARY ALVEOLI. The affected areas become filled with exudate that forms consolidated patches."
+BMGC_DS00325,BMG_DS000425,"MONDO: Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. | MeSH: A chronic lung disease developed after OXYGEN INHALATION THERAPY or mechanical ventilation (VENTILATION, MECHANICAL) usually occurring in certain premature infants (INFANT, PREMATURE) or newborn infants with respiratory distress syndrome (RESPIRATORY DISTRESS SYNDROME, NEWBORN). Histologically, it is characterized by the unusual abnormalities of the bronchioles, such as METAPLASIA, decrease in alveolar number, and formation of CYSTS."
+BMGC_DS00326,BMG_DS000426,"MONDO: Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases. | MeSH: Infection caused by bacteria of the genus BRUCELLA mainly involving the MONONUCLEAR PHAGOCYTE SYSTEM. This condition is characterized by fever, weakness, malaise, and weight loss."
+BMGC_DS00327,BMG_DS000427,MONDO: Excessive clenching of the jaw and grinding of the teeth. | MeSH: A disorder characterized by grinding and clenching of the teeth.
+BMGC_DS00328,BMG_DS000428,"MeSH: Eating an excess amount of food in a short period of time, as seen in the disorder of BULIMIA NERVOSA. It is caused by an abnormal craving for food, or insatiable hunger also known as ox hunger."
+BMGC_DS00329,BMG_DS000429,MeSH: A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles.
+BMGC_DS00330,BMG_DS000430,"MeSH: Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ANCYLOSTOMIASIS and NECATORIASIS are available."
+BMGC_DS00331,BMG_DS000433,"MONDO: Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. | MeSH: A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative."
+BMGC_DS00332,BMG_DS000435,"MONDO: A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth. | MeSH: A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders."
+BMGC_DS00333,BMG_DS000436,"MONDO: Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. | MeSH: Inflammation or irritation of a SYNOVIAL BURSA, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin."
+BMGC_DS00334,BMG_DS000437,"MONDO: An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week. | MeSH: A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest."
+BMGC_DS00335,BMG_DS000438,"MONDO: Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. | MeSH: Pathologic deposition of calcium salts in tissues."
+BMGC_DS00336,BMG_DS000440,"MONDO: Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. | MeSH: Condition of induced systemic hypersensitivity in which tissues respond to appropriate challenging agents with a sudden local calcification."
+BMGC_DS00337,BMG_DS000441,"MONDO: Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. | MeSH: Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization."
+BMGC_DS00338,BMG_DS000442,
+BMGC_DS00339,BMG_DS000445,MONDO: Infections with bacteria of the genus campylobacter. | MeSH: Infections with bacteria of the genus CAMPYLOBACTER.
+BMGC_DS00340,BMG_DS000446,"MONDO: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas."
+BMGC_DS00341,BMG_DS000447,"MONDO: Infection with the organism Candida. | MeSH: Infection with a fungus of the genus CANDIDA. It is usually a superficial infection of the moist areas of the body and is generally caused by CANDIDA ALBICANS. (Dorland, 27th ed)"
+BMGC_DS00342,BMG_DS000448,
+BMGC_DS00343,BMG_DS000449,"MeSH: A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy."
+BMGC_DS00344,BMG_DS000450,"MONDO: Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed) | MeSH: Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)"
+BMGC_DS00345,BMG_DS000451,"NCI: A fungal infection of the skin, nails, oral and vaginal mucosal sites caused by species of the genus Candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails."
+BMGC_DS00346,BMG_DS000452,"MONDO: Infection of the mucosal lining of the mouth with the fungus Candida albicans. | MeSH: Infection of the mucous membranes of the mouth by a fungus of the genus CANDIDA. (Dorland, 27th ed)"
+BMGC_DS00347,BMG_DS000453,
+BMGC_DS00348,BMG_DS000455,
+BMGC_DS00349,BMG_DS000456,"HPO: A persistent and compulsive need to use cannabis, despite negative consequences. [PMID:29556883] | MONDO: Physical and psychological dependence on the drug cannabis."
+BMGC_DS00350,BMG_DS000457,"MONDO: A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all. | MeSH: A psychotic disorder characterized by the patient's belief that acquaintances or closely related persons have been replaced by doubles or imposters."
+BMGC_DS00351,BMG_DS000458,MONDO: A infectious disease involving the Capillaria. | MONDO: Infections with nematodes of the order enoplida. | MeSH: Infections with nematodes of the order ENOPLIDA.
+BMGC_DS00352,BMG_DS000461,"MONDO: A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray. | MeSH: A condition characterized by the presence of RHEUMATOID ARTHRITIS associated with a specific form of pneumoconiosis, often in coal miners and asbestos workers."
+BMGC_DS00353,BMG_DS000462,MONDO: An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. | MeSH: Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.
+BMGC_DS00354,BMG_DS000464,
+BMGC_DS00355,BMG_DS000467,"MONDO: A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. | MeSH: A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm and not a synonym for cancer."
+BMGC_DS00356,BMG_DS000468,"MONDO: A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. | MeSH: A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane."
+BMGC_DS00357,BMG_DS000469,"NCI: A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. | MONDO: A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma."
+BMGC_DS00358,BMG_DS000470,NCI: Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity). | MONDO: Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).
+BMGC_DS00359,BMG_DS000471,NCI: A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females. | MONDO: A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females.
+BMGC_DS00360,BMG_DS000472,NCI: A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas. | MONDO: A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas.
+BMGC_DS00361,BMG_DS000473,MONDO: A carcinoma that arises from glandular epithelial cells of the prostate gland
+BMGC_DS00362,BMG_DS000474,NCI: A malignant epithelial neoplasm that arises from the rectum. The vast majority are adenocarcinomas. | MONDO: A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.
+BMGC_DS00363,BMG_DS000475,MONDO: A malignant neoplasm involving the zone of skin
+BMGC_DS00364,BMG_DS000476,NCI: A primary or metastatic malignant neoplasm affecting the thyroid gland. | MONDO: A malignant neoplasm involving the thyroid gland
+BMGC_DS00365,BMG_DS000477,NCI: A carcinoma involving the basal cells. | MONDO: A carcinoma involving the basal cells.
+BMGC_DS00366,BMG_DS000478,"MONDO: A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases. | MeSH: A skin carcinoma that histologically exhibits both basal and squamous elements. (From Dorland, 27th ed)"
+BMGC_DS00367,BMG_DS000479,"MONDO: A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous. | MeSH: A carcinoma derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed)"
+BMGC_DS00368,BMG_DS000480,MONDO: A lung carcinoma arising from the bronchial epithelium. | MeSH: Malignant neoplasm arising from the epithelium of the BRONCHI. It represents a large group of epithelial lung malignancies which can be divided into two clinical groups: SMALL CELL LUNG CANCER and NON-SMALL-CELL LUNG CARCINOMA.
+BMGC_DS00369,BMG_DS000481,"MONDO: A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. | MeSH: A noninvasive (noninfiltrating) carcinoma of the breast characterized by a proliferation of malignant epithelial cells confined to the mammary ducts or lobules, without light-microscopy evidence of invasion through the basement membrane into the surrounding stroma."
+BMGC_DS00370,BMG_DS000482,"MONDO: A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms. | MeSH: A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms."
+BMGC_DS00371,BMG_DS000484,"MONDO: Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). | MeSH: A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)"
+BMGC_DS00372,BMG_DS000485,"MONDO: An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. | MeSH: An adenocarcinoma producing mucin in significant amounts. (From Dorland, 27th ed)"
+BMGC_DS00373,BMG_DS000486,"MONDO: A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy. | MeSH: A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy."
+BMGC_DS00374,BMG_DS000487,"MONDO: A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. | MeSH: A malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. (Stedman, 25th ed)"
+BMGC_DS00375,BMG_DS000488,"MONDO: A carcinoma that arises from glandular epithelial cells of the kidney | MeSH: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma."
+BMGC_DS00376,BMG_DS000489,"MONDO: An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction. | MeSH: An adenocarcinoma with a hard (Greek skirrhos, hard) structure owing to the formation of dense connective tissue in the stroma. (From Dorland, 27th ed)"
+BMGC_DS00377,BMG_DS000490,"MONDO: A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. | MeSH: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)"
+BMGC_DS00378,BMG_DS000491,"MONDO: A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. | MeSH: A malignant neoplasm derived from TRANSITIONAL EPITHELIAL CELLS, occurring chiefly in the URINARY BLADDER; URETERS; or RENAL PELVIS."
+BMGC_DS00379,BMG_DS000492,"MONDO: A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. | MeSH: A malignant neoplasm that contains elements of carcinoma and sarcoma so extensively intermixed as to indicate neoplasia of epithelial and mesenchymal tissue. (Stedman, 25th ed)"
+BMGC_DS00380,BMG_DS000493,"MONDO: Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. | MeSH: Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse."
+BMGC_DS00381,BMG_DS000494,MONDO: A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. | MeSH: Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE).
+BMGC_DS00382,BMG_DS000495,"MONDO: Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. | MeSH: A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein."
+BMGC_DS00383,BMG_DS000496,"MONDO: A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. | MeSH: A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY)."
+BMGC_DS00384,BMG_DS000497,"MONDO: A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. | MeSH: A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis."
+BMGC_DS00385,BMG_DS000498,MONDO: A disease involving the cardiovascular system. | MeSH: Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
+BMGC_DS00386,BMG_DS000499,"MONDO: A disease involving the carotid artery segment. | MeSH: Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology."
+BMGC_DS00387,BMG_DS000500,"MONDO: Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax. | MeSH: Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX."
+BMGC_DS00388,BMG_DS000502,"MONDO: A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents. | MeSH: Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)"
+BMGC_DS00389,BMG_DS000504,"MONDO: Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement. | MeSH: Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)"
+BMGC_DS00390,BMG_DS000505,"NCI: A sensation of discomfort associated with ground travel; symptoms may include nausea, vomiting, dizziness or sweating. | MeSH: Disorder caused by motion. It includes sea sickness, train sickness, roller coaster rides, rocking chair, hammock swing, car sickness, air sickness, or SPACE MOTION SICKNESS. Symptoms include nausea, vomiting and/or dizziness."
+BMGC_DS00391,BMG_DS000506,MONDO: OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). | MeSH: Pathological processes involving the chondral tissue (CARTILAGE).
+BMGC_DS00392,BMG_DS000507,"MONDO: Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used. | MeSH: Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used."
+BMGC_DS00393,BMG_DS000508,"MONDO: Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery. | MeSH: A self-limiting bacterial infection of the regional lymph nodes caused by AFIPIA felis, a gram-negative bacterium recently identified by the Centers for Disease Control and Prevention and by BARTONELLA HENSELAE. It usually arises one or more weeks following a feline scratch, with raised inflammatory nodules at the site of the scratch being the primary symptom."
+BMGC_DS00394,BMG_DS000509,"MeSH: A condition characterized by transient weakness or paralysis of somatic musculature triggered by an emotional stimulus or physical exertion. Cataplexy is frequently associated with NARCOLEPSY. During a cataplectic attack, there is a marked reduction in muscle tone similar to the normal physiologic hypotonia that accompanies rapid eye movement sleep (SLEEP, REM). (From Adams et al., Principles of Neurology, 6th ed, p396)"
+BMGC_DS00395,BMG_DS000511,"MONDO: A psychiatric disorder featuring stupor, posturing, and echophenomena. | MeSH: A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994)"
+BMGC_DS00396,BMG_DS000512,"MONDO: Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. | MeSH: Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus."
+BMGC_DS00397,BMG_DS000514,"MONDO: Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area. | MeSH: A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)"
+BMGC_DS00398,BMG_DS000515,MONDO: Pathological developments in the cecum. | MeSH: Pathological developments in the CECUM.
+BMGC_DS00399,BMG_DS000516,"MONDO: A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. | MeSH: Tumors or cancer of the CECUM."
+BMGC_DS00400,BMG_DS000517,"MONDO: An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. | MeSH: A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION."
+BMGC_DS00401,BMG_DS000518,"MONDO: Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. | MeSH: An acute, diffuse, and suppurative inflammation of loose connective tissue, particularly the deep subcutaneous tissues, and sometimes muscle, which is most commonly seen as a result of infection of a wound, ulcer, or other skin lesions."
+BMGC_DS00402,BMG_DS000519,
+BMGC_DS00403,BMG_DS000521,NCI: Cellulitis of the hand.
+BMGC_DS00404,BMG_DS000523,"MeSH: Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord."
+BMGC_DS00405,BMG_DS000524,"MeSH: Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process."
+BMGC_DS00406,BMG_DS000525,"HPO: Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss. [PMID:23470793] | MONDO: Blockage of the central retinal artery. | MeSH: Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye."
+BMGC_DS00407,BMG_DS000528,"MONDO: A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. | MeSH: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)"
+BMGC_DS00408,BMG_DS000529,"MONDO: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. | MeSH: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA."
+BMGC_DS00409,BMG_DS000530,"MeSH: A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)"
+BMGC_DS00410,BMG_DS000531,"MONDO: A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003 | MeSH: Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)"
+BMGC_DS00411,BMG_DS000532,"MeSH: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)"
+BMGC_DS00412,BMG_DS000533,MONDO: Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis. | MeSH: Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS.
+BMGC_DS00413,BMG_DS000534,MeSH: Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.
+BMGC_DS00414,BMG_DS000535,MONDO: An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery.
+BMGC_DS00415,BMG_DS000536,MONDO: Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery. | MeSH: Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY.
+BMGC_DS00416,BMG_DS000537,NCI: Atherosclerosis of the cerebral vasculature. | MONDO: Atherosclerosis of the cerebral vasculature. | MeSH: Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS.
+BMGC_DS00417,BMG_DS000538,MeSH: Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES.
+BMGC_DS00418,BMG_DS000539,MeSH: Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures.
+BMGC_DS00419,BMG_DS000540,"MONDO: An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries. | MeSH: The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction)."
+BMGC_DS00420,BMG_DS000541,"MeSH: Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION."
+BMGC_DS00421,BMG_DS000542,"MONDO: A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. | MeSH: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)"
+BMGC_DS00422,BMG_DS000543,
+BMGC_DS00423,BMG_DS000544,"MONDO: A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. | MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS00424,BMG_DS000545,"MONDO: Schilder's disease is a progressive demyelinating disorder of the central nervous system. | MeSH: A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)"
+BMGC_DS00425,BMG_DS000546,"MONDO: A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure. | MeSH: Neoplasms located in the brain ventricles, including the two lateral, the third, and the fourth ventricle. Ventricular tumors may be primary (e.g., CHOROID PLEXUS NEOPLASMS and GLIOMA, SUBEPENDYMAL), metastasize from distant organs, or occur as extensions of locally invasive tumors from adjacent brain structures."
+BMGC_DS00426,BMG_DS000547,
+BMGC_DS00427,BMG_DS000550,"MONDO: A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. | MeSH: A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others."
+BMGC_DS00428,BMG_DS000551,
+BMGC_DS00429,BMG_DS000552,NCI: A primary or metastatic malignant neoplasm involving the cervix.
+BMGC_DS00430,BMG_DS000553,"MeSH: A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS00431,BMG_DS000556,MONDO: An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge. | MeSH: Inflammation of the UTERINE CERVIX.
+BMGC_DS00432,BMG_DS000557,
+BMGC_DS00433,BMG_DS000558,"MeSH: A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)"
+BMGC_DS00434,BMG_DS000560,"MONDO: A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. | MeSH: Pathological processes of the UTERINE CERVIX."
+BMGC_DS00435,BMG_DS000562,MeSH: Loss or destruction of the epithelial lining of the UTERINE CERVIX.
+BMGC_DS00436,BMG_DS000564,"NCI: A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. | MONDO: A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis."
+BMGC_DS00437,BMG_DS000565,MONDO: A neoplasm (disease) that involves the uterine cervix.
+BMGC_DS00438,BMG_DS000569,MONDO: An eyelid cyst caused by the blockage of a meibomian gland. | MeSH: A non-neoplastic cyst of the MEIBOMIAN GLANDS of the eyelid.
+BMGC_DS00439,BMG_DS000570,"MeSH: The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection."
+BMGC_DS00440,BMG_DS000572,"MONDO: Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery. | MeSH: Acute, localized autoinoculable infectious disease usually acquired through sexual contact. Caused by HAEMOPHILUS DUCREYI, it occurs endemically almost worldwide, especially in tropical and subtropical countries and more commonly in seaports and urban areas than in rural areas."
+BMGC_DS00441,BMG_DS000573,"MONDO: An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. | MeSH: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)"
+BMGC_DS00442,BMG_DS000574,"MONDO: ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. | MeSH: A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle."
+BMGC_DS00443,BMG_DS000576,MONDO: An inflammatory process affecting the lip. | MeSH: Inflammation of the lips. It is of various etiologies and degrees of pathology.
+BMGC_DS00444,BMG_DS000577,"MONDO: Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. | MeSH: A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination."
+BMGC_DS00445,BMG_DS000578,MONDO: A postpartum condition consists of persistent lactation and amenorrhea in patients not breast feeding. | MeSH: A POSTPARTUM condition consists of persistent lactation (GALACTORRHEA) and AMENORRHEA in patients not BREAST FEEDING.
+BMGC_DS00446,BMG_DS000579,"MONDO: A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. | MeSH: A highly contagious infectious disease caused by the varicella-zoster virus (HERPESVIRUS 3, HUMAN). It usually affects children, is spread by direct contact or respiratory route via droplet nuclei, and is characterized by the appearance on the skin and mucous membranes of successive crops of typical pruritic vesicular lesions that are easily broken and become scabbed. Chickenpox is relatively benign in children, but may be complicated by pneumonia and encephalitis in adults. (From Dorland, 27th ed)"
+BMGC_DS00447,BMG_DS000580,"MONDO: An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. | MeSH: An acute infection caused by a mosquito-borne alphavirus CHIKUNGUNYA VIRUS characterized by RASH; FEVER; JOINT PAINS; CONJUNCTIVITIS; MENINGOENCEPHALITIS; LYMPHOPENIA; and THROMBOCYTOPENIA."
+BMGC_DS00448,BMG_DS000581,"MeSH: Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years."
+BMGC_DS00449,BMG_DS000582,
+BMGC_DS00450,BMG_DS000583,MONDO: An infection that is caused by Chlamydia trachomatis. | MeSH: Infections with bacteria of the genus CHLAMYDIA.
+BMGC_DS00451,BMG_DS000585,
+BMGC_DS00452,BMG_DS000586,"MONDO: Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. | MeSH: A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous."
+BMGC_DS00453,BMG_DS000588,"MONDO: A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction. | MeSH: A benign tumor of the intrahepatic bile ducts."
+BMGC_DS00454,BMG_DS000589,"MONDO: An acute or chronic inflammatory process affecting the biliary tract. | MeSH: Inflammation of the biliary ductal system (BILE DUCTS); intrahepatic, extrahepatic, or both."
+BMGC_DS00455,BMG_DS000590,"MONDO: Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. | MeSH: FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cholangitis involves the destruction of small intra-hepatic bile ducts and decreased bile secretion. Secondary biliary cholangitis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes."
+BMGC_DS00456,BMG_DS000591,"MONDO: A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. | MeSH: Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS."
+BMGC_DS00457,BMG_DS000592,"MONDO: An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. | MeSH: Inflammation of the GALLBLADDER; generally caused by impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, or other diseases."
+BMGC_DS00458,BMG_DS000593,"MONDO: Cystic dilatation of the hepatic duct or bile duct. | MeSH: A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic bile duct or the large intrahepatic bile duct. Classification is based on the site and type of dilatation. Type I is most common."
+BMGC_DS00459,BMG_DS000594,"MONDO: The presence of calculi in the gallbladder. | MeSH: Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)."
+BMGC_DS00460,BMG_DS000595,"MONDO: Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. | MeSH: An acute diarrheal disease endemic in India and Southeast Asia whose causative agent is VIBRIO CHOLERAE. This condition can lead to severe dehydration in a matter of hours unless quickly treated."
+BMGC_DS00461,BMG_DS000596,"MONDO: Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. | MeSH: Impairment of bile flow due to obstruction in small bile ducts (INTRAHEPATIC CHOLESTASIS) or obstruction in large bile ducts (EXTRAHEPATIC CHOLESTASIS)."
+BMGC_DS00462,BMG_DS000597,"MONDO: A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver. | MeSH: Impairment of bile flow due to injury to the HEPATOCYTES; BILE CANALICULI; or the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC)."
+BMGC_DS00463,BMG_DS000598,"MONDO: A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures. | MeSH: A non-neoplastic mass of keratin-producing squamous EPITHELIUM, frequently occurring in the MENINGES; bones of the skull, and most commonly in the MIDDLE EAR and MASTOID region. Cholesteatoma can be congenital or acquired. Cholesteatoma is not a tumor nor is it associated with high CHOLESTEROL."
+BMGC_DS00464,BMG_DS000599,
+BMGC_DS00465,BMG_DS000600,"MONDO: A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia. | MeSH: An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes."
+BMGC_DS00466,BMG_DS000601,"MONDO: A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) | MeSH: A condition produced by a deficiency of CHOLINE in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)"
+BMGC_DS00467,BMG_DS000602,"MONDO: A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes. | MeSH: A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)"
+BMGC_DS00468,BMG_DS000603,"MONDO: A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. | MeSH: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form."
+BMGC_DS00469,BMG_DS000604,MONDO: Any dysfunction in the growth of cartilage.
+BMGC_DS00470,BMG_DS000605,"MONDO: Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission. | MeSH: A degeneration of the ARTICULAR CARTILAGE of the PATELLA, caused by a decrease in sulfated MUCOPOLYSACCHARIDES in the ground substance. When accompanied by pain, it is sometimes considered part of or confused with PATELLOFEMORAL PAIN SYNDROME."
+BMGC_DS00471,BMG_DS000607,"MONDO: A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. | MeSH: A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)"
+BMGC_DS00472,BMG_DS000608,"MONDO: Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. | MeSH: A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed)"
+BMGC_DS00473,BMG_DS000609,"MONDO: A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. | MeSH: Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS00474,BMG_DS000611,MONDO: A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion. | MeSH: INFLAMMATION of the placental membranes (CHORION; AMNION) and connected tissues such as fetal BLOOD VESSELS and UMBILICAL CORD. It is often associated with intrauterine ascending infections during PREGNANCY.
+BMGC_DS00475,BMG_DS000612,"MONDO: An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. | MeSH: A malignant metastatic form of trophoblastic tumors. Unlike the HYDATIDIFORM MOLE, choriocarcinoma contains no CHORIONIC VILLI but rather sheets of undifferentiated cytotrophoblasts and syncytiotrophoblasts (TROPHOBLASTS). It is characterized by the large amounts of CHORIONIC GONADOTROPIN produced. Tissue origins can be determined by DNA analyses: placental (fetal) origin or non-placental origin (CHORIOCARCINOMA, NON-GESTATIONAL)."
+BMGC_DS00476,BMG_DS000613,"HPO: Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye. []"
+BMGC_DS00477,BMG_DS000614,"MONDO: Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. | MeSH: Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body."
+BMGC_DS00478,BMG_DS000615,"MeSH: Disorders of the choroid including hereditary choroidal diseases, neoplasms, and other abnormalities of the vascular layer of the uvea."
+BMGC_DS00479,BMG_DS000616,MONDO: A neoplasm (disease) that involves the optic choroid. | MeSH: Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi).
+BMGC_DS00480,BMG_DS000617,"MONDO: Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. | MeSH: An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness."
+BMGC_DS00481,BMG_DS000618,MONDO: An inflammatory process that affects the choroid. | MeSH: Inflammation of the choroid.
+BMGC_DS00482,BMG_DS000619,"MONDO: Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. | MeSH: A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)"
+BMGC_DS00483,BMG_DS000620,"MONDO: Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa. | MeSH: Scaly papule or warty growth, caused by five fungi, that spreads as a result of satellite lesions affecting the foot or leg. The extremity may become swollen and, at its distal portion, covered with various nodular, tumorous, verrucous lesions that resemble cauliflower. In rare instances, the disease may begin on the hand or wrist and involve the entire upper extremity. (Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p362)"
+BMGC_DS00484,BMG_DS000622,"MONDO: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"
+BMGC_DS00485,BMG_DS000623,"MONDO: A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath. | MeSH: A subcategory of CHRONIC OBSTRUCTIVE PULMONARY DISEASE. The disease is characterized by hypersecretion of mucus accompanied by a chronic (more than 3 months in 2 consecutive years) productive cough. Infectious agents are a major cause of chronic bronchitis."
+BMGC_DS00486,BMG_DS000625,"NCI: Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement. | MONDO: Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement."
+BMGC_DS00487,BMG_DS000626,"NCI: Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. | MONDO: Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties."
+BMGC_DS00488,BMG_DS000627,"NCI: Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. | MONDO: Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties."
+BMGC_DS00489,BMG_DS000628,NCI: Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth. | MONDO: Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.
+BMGC_DS00490,BMG_DS000630,"NCI: Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. | MONDO: Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties."
+BMGC_DS00491,BMG_DS000631,"NCI: A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. | MONDO: A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause."
+BMGC_DS00492,BMG_DS000632,
+BMGC_DS00493,BMG_DS000633,HPO: Chronic inflammation of the nasal mucosa. [https://orcid.org/0000-0002-0736-9199] | MONDO: Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.
+BMGC_DS00494,BMG_DS000634,"NCI: Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. | MONDO: Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties."
+BMGC_DS00495,BMG_DS000635,"MeSH: Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2)."
+BMGC_DS00496,BMG_DS000636,"MONDO: Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. | MeSH: Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA."
+BMGC_DS00497,BMG_DS000637,"MONDO: Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. | MeSH: Presence of milky lymph (CHYLE) in the PERITONEAL CAVITY, with or without infection."
+BMGC_DS00498,BMG_DS000638,"MeSH: The presence of chyle in the thoracic cavity. (Dorland, 27th ed)"
+BMGC_DS00499,BMG_DS000639,"MONDO: A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). | MeSH: Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms."
+BMGC_DS00500,BMG_DS000640,
+BMGC_DS00501,BMG_DS000641,MONDO: Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base. | MeSH: Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
+BMGC_DS00502,BMG_DS000642,"MeSH: Congenital fissure of the soft and/or hard palate, due to faulty fusion."
+BMGC_DS00503,BMG_DS000643,"MONDO: A condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. | MeSH: Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies."
+BMGC_DS00504,BMG_DS000644,"MONDO: Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed) | MeSH: Infection of the biliary passages with CLONORCHIS SINENSIS, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)"
+BMGC_DS00505,BMG_DS000646,"MONDO: The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. | MeSH: A deformed foot in which the foot is plantarflexed, inverted, and adducted."
+BMGC_DS00506,BMG_DS000647,"MONDO: A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms. | MeSH: A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS00507,BMG_DS000648,MONDO: Disorders related or resulting from use of cocaine.
+BMGC_DS00508,BMG_DS000649,"MONDO: A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. | MeSH: Infection with a fungus of the genus COCCIDIOIDES, endemic to the SOUTHWESTERN UNITED STATES. It is sometimes called valley fever but should not be confused with RIFT VALLEY FEVER. Infection is caused by inhalation of airborne, fungal particles known as arthroconidia, a form of FUNGAL SPORES. A primary form is an acute, benign, self-limited respiratory infection. A secondary form is a virulent, severe, chronic, progressive granulomatous disease with systemic involvement. It can be detected by use of COCCIDIOIDIN."
+BMGC_DS00509,BMG_DS000650,"MONDO: A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. | MeSH: Protozoan infection found in animals and man. It is caused by several different genera of COCCIDIA."
+BMGC_DS00510,BMG_DS000652,"MONDO: Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph). | MeSH: Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH)."
+BMGC_DS00511,BMG_DS000653,"MONDO: A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. | MeSH: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms."
+BMGC_DS00512,BMG_DS000657,"MONDO: A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura. | MeSH: A lung lesion that appears as a round coin-shaped shadow in the chest radiographs."
+BMGC_DS00513,BMG_DS000658,"MeSH: General term for inflammation of adipose tissue, usually of the skin, characterized by reddened subcutaneous nodules."
+BMGC_DS00514,BMG_DS000659,"MONDO: Inflammation of the colon. | MeSH: Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER."
+BMGC_DS00515,BMG_DS000660,"MONDO: An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. | MeSH: Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN."
+BMGC_DS00516,BMG_DS000661,"MONDO: Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. | MONDO: OBSOLETE. Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) | MeSH: Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that collagen was equivalent to connective tissue, but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term collagen diseases now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)"
+BMGC_DS00517,BMG_DS000662,MONDO: An abnormality in which a part of a structure in one or both eyes is missing. | MeSH: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
+BMGC_DS00518,BMG_DS000663,"MONDO: Pathological processes in the colon region of the large intestine (intestine, large). | MeSH: Pathological processes in the COLON region of the large intestine (INTESTINE, LARGE)."
+BMGC_DS00519,BMG_DS000664,MONDO: Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category. | MeSH: Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized IRRITABLE BOWEL SYNDROME falls into this category.
+BMGC_DS00520,BMG_DS000665,"MONDO: A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. | MeSH: Tumors or cancer of the COLON."
+BMGC_DS00521,BMG_DS000666,"MONDO: A polyp that involves the colon. | MeSH: Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base."
+BMGC_DS00522,BMG_DS000667,"MONDO: Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome. | MeSH: Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome."
+BMGC_DS00523,BMG_DS000668,"MONDO: A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni. | MeSH: A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the COLORADO TICK FEVER VIRUS, a reovirus transmitted by the tick Dermacentor andersoni."
+BMGC_DS00524,BMG_DS000669,MONDO: A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.
+BMGC_DS00525,BMG_DS000670,"MONDO: A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. | MeSH: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI."
+BMGC_DS00526,BMG_DS000671,"MeSH: A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer."
+BMGC_DS00527,BMG_DS000672,MeSH: A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION.
+BMGC_DS00528,BMG_DS000673,"MONDO: Neurotic reactions to unusual, severe, or overwhelming military stress. | MeSH: Neurotic reactions to unusual, severe, or overwhelming military stress."
+BMGC_DS00529,BMG_DS000674,MONDO: A disease involving the common bile duct. | MeSH: Diseases of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI.
+BMGC_DS00530,BMG_DS000675,MONDO: Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi. | MeSH: Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI.
+BMGC_DS00531,BMG_DS000676,"MONDO: An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain. | MeSH: A catarrhal disorder of the upper respiratory tract, which may be viral or a mixed infection. It generally involves a runny nose, nasal congestion, and sneezing."
+BMGC_DS00532,BMG_DS000677,"MONDO: Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. | MeSH: Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections."
+BMGC_DS00533,BMG_DS000678,"MONDO: A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact. | MeSH: An illness caused by an infectious agent or its toxins that occurs through the direct or indirect transmission of the infectious agent or its products from an infected individual or via an animal, vector or the inanimate environment to a susceptible animal or human host."
+BMGC_DS00534,BMG_DS000679,"HPO: A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. [eMedicine:1135286, https://orcid.org/0000-0002-0736-9199] | MONDO: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. | MeSH: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA."
+BMGC_DS00535,BMG_DS000680,"MONDO: A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing. | MeSH: Disorders of verbal and nonverbal communication caused by receptive or expressive LANGUAGE DISORDERS, cognitive dysfunction (e.g., MENTAL RETARDATION), psychiatric conditions, and HEARING DISORDERS."
+BMGC_DS00536,BMG_DS000681,"MONDO: Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. | MeSH: Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE. FASCIOTOMY is often used to decompress increased pressure and eliminate pain associated with compartment syndromes."
+BMGC_DS00537,BMG_DS000682,
+BMGC_DS00538,BMG_DS000683,"NCI: A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics. | MONDO: A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics."
+BMGC_DS00539,BMG_DS000684,MeSH: Sexually transmitted form of anogenital warty growth caused by the HUMAN PAPILLOMAVIRUS VIRUSES.
+BMGC_DS00540,BMG_DS000685,"ORPHANET: A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes."
+BMGC_DS00541,BMG_DS000688,"NCI: A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. | MONDO: A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts."
+BMGC_DS00542,BMG_DS000689,MONDO: Any disorder of the conjunctiva. | MeSH: Diseases involving the CONJUNCTIVA.
+BMGC_DS00543,BMG_DS000690,"MONDO: A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma. | MeSH: Tumors or cancer of the CONJUNCTIVA."
+BMGC_DS00544,BMG_DS000691,MONDO: Inflammation of the conjunctiva of the eye. | MeSH: INFLAMMATION of the CONJUNCTIVA.
+BMGC_DS00545,BMG_DS000692,"MONDO: Acute conjunctivitis that is characterized by bleeding into the conjunctiva. | MeSH: A highly contagious disease characterized by subconjunctival hemorrhage, sudden swelling of the eyelids and congestion, redness, and pain in the eye. Epidemic conjunctivitis caused by Enterovirus 70 (EV-70) was first described in Africa in 1969. It is caused also by Coxsackievirus A24 variant (CA24v). Epidemics by this organism have appeared most frequently in Asia."
+BMGC_DS00546,BMG_DS000693,MONDO: Conjunctivitis due to hypersensitivity to various allergens. | MeSH: Conjunctivitis due to hypersensitivity to various allergens.
+BMGC_DS00547,BMG_DS000694,"MONDO: Inflammation of the conjunctiva caused by a variety of bacterial agents. | MeSH: Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia."
+BMGC_DS00548,BMG_DS000695,"NCI: Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva. | MONDO: Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva. | MeSH: Conjunctivitis due to hypersensitivity to various allergens."
+BMGC_DS00549,BMG_DS000696,MONDO: Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. | MeSH: An infection of the eyes characterized by the presence in conjunctival epithelial cells of inclusion bodies indistinguishable from those of trachoma. It is acquired by infants during birth and by adults from swimming pools. The etiological agent is CHLAMYDIA TRACHOMATIS whose natural habitat appears to be the genito-urinary tract. Inclusion conjunctivitis is a less severe disease than trachoma and usually clears up spontaneously.
+BMGC_DS00550,BMG_DS000697,NCI: Inflammation of the cornea that is seasonal in nature. | MONDO: Inflammation of the cornea that is seasonal in nature. | MeSH: Conjunctivitis due to hypersensitivity to various allergens.
+BMGC_DS00551,BMG_DS000699,"MONDO: A disease involving the connective tissue. | MeSH: A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides."
+BMGC_DS00552,BMG_DS000700,"MONDO: Irregular and infrequent or difficult evacuation of the bowels. | MeSH: Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections."
+BMGC_DS00553,BMG_DS000701,"MONDO: Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve. | MeSH: A disorder whose predominant feature is a loss or alteration in physical functioning that suggests a physical disorder but that is actually a direct expression of a psychological conflict or need."
+BMGC_DS00554,BMG_DS000702,"MeSH: Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)"
+BMGC_DS00555,BMG_DS000704,"MONDO: A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. | MeSH: Diseases of the cornea."
+BMGC_DS00556,BMG_DS000705,"MeSH: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect."
+BMGC_DS00557,BMG_DS000706,HPO: The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. [https://orcid.org/0000-0002-0736-9199] | MONDO: The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.
+BMGC_DS00558,BMG_DS000707,"MONDO: Hazy, swollen cornea. | MeSH: An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity."
+BMGC_DS00559,BMG_DS000708,"MONDO: Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. | MeSH: Loss of epithelial tissue from the surface of the cornea due to progressive erosion and necrosis of the tissue; usually caused by bacterial, fungal, or viral infection."
+BMGC_DS00560,BMG_DS000709,"MONDO: Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease. | MeSH: Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE."
+BMGC_DS00561,BMG_DS000710,"MONDO: Atherosclerosis of the coronary vasculature. | MeSH: Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause. | MeSH: Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE)."
+BMGC_DS00562,BMG_DS000711,MeSH: An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
+BMGC_DS00563,BMG_DS000712,MONDO: Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction. | MeSH: Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION.
+BMGC_DS00564,BMG_DS000713,MONDO: Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow. | MeSH: Spasm of the large- or medium-sized coronary arteries.
+BMGC_DS00565,BMG_DS000715,NCI: A benign ovarian cyst that develops when fluid accumulates in a corpus luteum that failed to regress. | MONDO: A ovarian cyst (disease) that involves the corpus luteum. | MeSH: General term for CYSTS and cystic diseases of the OVARY.
+BMGC_DS00566,BMG_DS000718,"MONDO: A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. | MeSH: A mild, eruptive skin disease of milk cows caused by COWPOX VIRUS, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal."
+BMGC_DS00567,BMG_DS000719,"MONDO: A heterogeneous group of infections produced by coxsackieviruses, including herpangina, aseptic meningitis (meningitis, aseptic), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (pleurodynia, epidemic) and a serious myocarditis. | MeSH: A heterogeneous group of infections produced by coxsackieviruses, including HERPANGINA, aseptic meningitis (MENINGITIS, ASEPTIC), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (PLEURODYNIA, EPIDEMIC) and a serious MYOCARDITIS."
+BMGC_DS00568,BMG_DS000721,"MONDO: A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. | MeSH: Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate."
+BMGC_DS00569,BMG_DS000722,MONDO: Abnormal growth of the cells that comprise the cranial nerves. | MeSH: Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves.
+BMGC_DS00570,BMG_DS000724,MONDO: Crouzon disease is characterized by craniosynostosis and facial hypoplasia. | MeSH: Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
+BMGC_DS00571,BMG_DS000725,"MONDO: A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) | MeSH: A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50)"
+BMGC_DS00572,BMG_DS000726,MONDO: Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. | MeSH: Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
+BMGC_DS00573,BMG_DS000727,"MONDO: A thyroid hormone deficiency present from birth. | MeSH: A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA."
+BMGC_DS00574,BMG_DS000728,"MONDO: Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. | MeSH: An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-)."
+BMGC_DS00575,BMG_DS000729,"ORPHANET: A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy. | MONDO: Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)."
+BMGC_DS00576,BMG_DS000731,MeSH: A disease or state in which death is possible or imminent.
+BMGC_DS00577,BMG_DS000732,"MONDO: A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. | MeSH: A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients."
+BMGC_DS00578,BMG_DS000734,"MONDO: Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. | MeSH: Inflammation involving the GLOTTIS or VOCAL CORDS and the subglottic larynx. Croup is characterized by a barking cough, HOARSENESS, and persistent inspiratory STRIDOR (a high-pitched breathing sound). It occurs chiefly in infants and children."
+BMGC_DS00579,BMG_DS000736,"MeSH: Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN."
+BMGC_DS00580,BMG_DS000737,"MONDO: Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. | MeSH: A condition characterized by the presence of abnormal quantities of CRYOGLOBULINS in the blood. Upon cold exposure, these abnormal proteins precipitate into the microvasculature leading to restricted blood flow in the exposed areas."
+BMGC_DS00581,BMG_DS000738,"MONDO: An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004"
+BMGC_DS00582,BMG_DS000739,"MONDO: The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. | MeSH: A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis."
+BMGC_DS00583,BMG_DS000740,MONDO: Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea. | MeSH: Intestinal infection with organisms of the genus CRYPTOSPORIDIUM. It occurs in both animals and humans. Symptoms include severe DIARRHEA.
+BMGC_DS00584,BMG_DS000741,"MeSH: A PEPTIC ULCER located in the DUODENUM. | MeSH: Acute stress DUODENAL ULCER, usually observed in patients with extensive third-degree burns."
+BMGC_DS00585,BMG_DS000742,"MONDO: Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. | MeSH: A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent."
+BMGC_DS00586,BMG_DS000744,"MONDO: Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. | MeSH: A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)"
+BMGC_DS00587,BMG_DS000745,NCI: Inflammation of the ciliary body.
+BMGC_DS00588,BMG_DS000746,MONDO: An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood. | MeSH: An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.
+BMGC_DS00589,BMG_DS000747,"MONDO: A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. | MeSH: Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)"
+BMGC_DS00590,BMG_DS000748,"MONDO: A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas. | MeSH: A malignant neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed. The neoplastic cells manifest varying degrees of anaplasia and invasiveness, and local extension and metastases occur. Cystadenocarcinomas develop frequently in the ovaries, where pseudomucinous and serous types are recognized. (Stedman, 25th ed)"
+BMGC_DS00591,BMG_DS000749,"MONDO: A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas. | MeSH: A benign neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed. In some instances, considerable portions of the neoplasm, or even the entire mass, may be cystic. (Stedman, 25th ed)"
+BMGC_DS00592,BMG_DS000754,"MONDO: Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. | MeSH: An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION."
+BMGC_DS00593,BMG_DS000755,"MONDO: Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs. | MeSH: Infection with CYSTICERCUS, the larval form of the various tapeworms of the genus Taenia (usually T. solium in man). In humans they penetrate the intestinal wall and invade subcutaneous tissue, brain, eye, muscle, heart, liver, lung, and peritoneum. Brain involvement results in NEUROCYSTICERCOSIS."
+BMGC_DS00594,BMG_DS000756,MONDO: Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. | MeSH: An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
+BMGC_DS00595,BMG_DS000757,"MONDO: Inflammation of the urinary bladder. | MeSH: Inflammation of the URINARY BLADDER, either from bacterial or non-bacterial causes. Cystitis is usually associated with painful urination (dysuria), increased frequency, urgency, and suprapubic pain."
+BMGC_DS00596,BMG_DS000759,"MONDO: A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors. | MeSH: A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known."
+BMGC_DS00597,BMG_DS000760,"MONDO: A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. | MeSH: Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults."
+BMGC_DS00598,BMG_DS000761,"MONDO: Inflammation of the lacrimal sac. | MeSH: Inflammation of the lacrimal sac. (Dorland, 27th ed)"
+BMGC_DS00599,BMG_DS000762,"MONDO: Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. | MeSH: A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)"
+BMGC_DS00600,BMG_DS000763,MeSH: A general term for the complete loss of the ability to hear from both ears.
+BMGC_DS00601,BMG_DS000767,"MeSH: A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS00602,BMG_DS000770,MeSH: Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS.
+BMGC_DS00603,BMG_DS000771,MeSH: The condition that results from excessive loss of water from a living organism.
+BMGC_DS00604,BMG_DS000772,"NCI: A demyelinating peripheral neuropathy characterized by delayed motor development. | MeSH: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)"
+BMGC_DS00605,BMG_DS000773,"MONDO: A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) | MeSH: A disorder characterized by CONFUSION; inattentiveness; disorientation; ILLUSIONS; HALLUCINATIONS; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)"
+BMGC_DS00606,BMG_DS000774,"MONDO: Inflammation of the liver in humans caused by hepatitis delta virus, a defective RNA virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. | MeSH: INFLAMMATION of the LIVER in humans caused by HEPATITIS DELTA VIRUS, a defective RNA virus that can only infect HEPATITIS B patients. For its viral coating, hepatitis delta virus requires the HEPATITIS B SURFACE ANTIGENS produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact."
+BMGC_DS00607,BMG_DS000775,"MONDO: A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s). | MeSH: Disorder with presentation of a facade of coldness with characteristic pervasive mistrust and suspiciousness of others."
+BMGC_DS00608,BMG_DS000776,"MONDO: A common form of dementia caused by multiple cortical or subcortical cerebral infarctions. | MeSH: Loss of higher cortical functions with retained awareness due to multiple cortical or subcortical CEREBRAL INFARCTION. Memory, judgment, attention span, and impulse control are often impaired, and may be accompanied by PSEUDOBULBAR PALSY; HEMIPARESIS; reflex abnormalities, and other signs of localized neurologic dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p1060)"
+BMGC_DS00609,BMG_DS000777,"MONDO: A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions. | MeSH: An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)"
+BMGC_DS00610,BMG_DS000779,"MONDO: A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase traveling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. | MeSH: Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system."
+BMGC_DS00611,BMG_DS000780,"MONDO: Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). | MeSH: An acute febrile disease transmitted by the bite of AEDES mosquitoes infected with DENGUE VIRUS. It is self-limiting and characterized by fever, myalgia, headache, and rash. SEVERE DENGUE is a more virulent form of dengue."
+BMGC_DS00612,BMG_DS000781,"MONDO: The decay of a tooth, in which it becomes softened, discolored, and/or porous. | MeSH: Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp."
+BMGC_DS00613,BMG_DS000783,"MONDO: Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. | MeSH: An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors."
+BMGC_DS00614,BMG_DS000784,"MeSH: A film that attaches to teeth, often causing DENTAL CARIES and GINGIVITIS. It is composed of MUCINS, secreted from salivary glands, and microorganisms."
+BMGC_DS00615,BMG_DS000786,MeSH: CALCINOSIS of the DENTAL PULP or ROOT CANAL.
+BMGC_DS00616,BMG_DS000787,"MONDO: A disease involving the dental pulp. | MeSH: Endodontic diseases of the DENTAL PULP inside the tooth, which is distinguished from PERIAPICAL DISEASES of the tissue surrounding the root."
+BMGC_DS00617,BMG_DS000789,"MONDO: Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification. | MeSH: Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification."
+BMGC_DS00618,BMG_DS000791,"MONDO: Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II. | MeSH: An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (From Dorland, 27th ed)"
+BMGC_DS00619,BMG_DS000792,"MONDO: Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli. | MeSH: Pain associated with exposed DENTIN surfaces of the teeth."
+BMGC_DS00620,BMG_DS000794,MONDO: Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development. | MeSH: An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.
+BMGC_DS00621,BMG_DS000795,"MONDO: A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life. | MeSH: A personality disorder characterized by a pervasive and excessive need to be taken care of that leads to submissive and clinging behavior and fears of separation, beginning by early adulthood and present in a variety of contexts. (From DSM-IV, 1994)"
+BMGC_DS00622,BMG_DS000796,MeSH: Depressive states usually of moderate intensity in contrast with MAJOR DEPRESSIVE DISORDER present in neurotic and psychotic disorders.
+BMGC_DS00623,BMG_DS000797,NCI: Depression which is considered strictly biological. | MONDO: Depression which is considered strictly biological.
+BMGC_DS00624,BMG_DS000798,NCI: Depression precipitated by events in a person's life.
+BMGC_DS00625,BMG_DS000799,MONDO: A melancholy feeling of sadness and despair. | MeSH: An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.
+BMGC_DS00626,BMG_DS000800,MeSH: Any inflammation of the skin.
+BMGC_DS00627,BMG_DS000801,"MONDO: The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) | MeSH: The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)"
+BMGC_DS00628,BMG_DS000802,"MONDO: Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance. | MeSH: Rare, chronic, papulo-vesicular disease characterized by an intensely pruritic eruption consisting of various combinations of symmetrical, erythematous, papular, vesicular, or bullous lesions. The disease is strongly associated with the presence of HLA-B8 and HLA-DR3 antigens. A variety of different autoantibodies has been detected in small numbers in patients with dermatitis herpetiformis."
+BMGC_DS00629,BMG_DS000803,"MONDO: A common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life. | MeSH: A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema."
+BMGC_DS00630,BMG_DS000804,MONDO: An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. | MeSH: A type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin. It may involve allergic or non-allergic mechanisms.
+BMGC_DS00631,BMG_DS000806,MONDO: Superficial infections of the skin or its appendages by any of various fungi. | MeSH: Superficial infections of the skin or its appendages by any of various fungi.
+BMGC_DS00632,BMG_DS000807,"MONDO: Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. | MeSH: A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)"
+BMGC_DS00633,BMG_DS000808,"SNOMEDCT_US: Fungal infection of the skin. | MONDO: A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area."
+BMGC_DS00634,BMG_DS000809,NCI: Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area. | MONDO: Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area.
+BMGC_DS00635,BMG_DS000810,NCI: Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area. | MONDO: Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area.
+BMGC_DS00636,BMG_DS000811,"MONDO: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc)."
+BMGC_DS00637,BMG_DS000812,NCI: A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body. | MONDO: A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.
+BMGC_DS00638,BMG_DS000813,"MONDO: A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. | MeSH: A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)"
+BMGC_DS00639,BMG_DS000814,NCI: A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition. | MONDO: A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition.
+BMGC_DS00640,BMG_DS000815,"MONDO: A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. | MeSH: A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs."
+BMGC_DS00641,BMG_DS000816,
+BMGC_DS00642,BMG_DS000817,"MONDO: A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. | MeSH: A disease that is characterized by frequent urination, excretion of large amounts of dilute URINE, and excessive THIRST. Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst."
+BMGC_DS00643,BMG_DS000818,MONDO: A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. | MeSH: A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
+BMGC_DS00644,BMG_DS000819,"MONDO: A chronic condition characterized by minimal or absent production of insulin by the pancreas. | MeSH: A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence."
+BMGC_DS00645,BMG_DS000820,"MONDO: A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. | MeSH: A type of diabetes mellitus that is characterized by severe INSULIN RESISTANCE and LIPODYSTROPHY. The latter may be generalized, partial, acquired, or congenital (LIPODYSTROPHY, CONGENITAL GENERALIZED)."
+BMGC_DS00646,BMG_DS000821,MONDO: A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. | MeSH: A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
+BMGC_DS00647,BMG_DS000823,MONDO: Diabetic angiopathy is a form of angiopathy associated with diabetic complications.
+BMGC_DS00648,BMG_DS000824,MeSH: VASCULAR DISEASES that are associated with DIABETES MELLITUS.
+BMGC_DS00649,BMG_DS000825,
+BMGC_DS00650,BMG_DS000827,"MONDO: The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. | MeSH: A life-threatening complication of diabetes mellitus, primarily of TYPE 1 DIABETES MELLITUS with severe INSULIN deficiency and extreme HYPERGLYCEMIA. It is characterized by KETOSIS; DEHYDRATION; and depressed consciousness leading to COMA."
+BMGC_DS00651,BMG_DS000828,"MONDO: Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. | MeSH: KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE."
+BMGC_DS00652,BMG_DS000829,"MONDO: A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. | MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS00653,BMG_DS000830,"MONDO: A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. | MeSH: Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION."
+BMGC_DS00654,BMG_DS000831,"MeSH: A type of irritant dermatitis localized to the area in contact with a diaper and occurring most often as a reaction to prolonged contact with urine, feces, or retained soap or detergent."
+BMGC_DS00655,BMG_DS000832,"MONDO: A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. | MeSH: A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG."
+BMGC_DS00656,BMG_DS000834,"MONDO: Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. | MeSH: An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder."
+BMGC_DS00657,BMG_DS000836,"MONDO: VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome). | MeSH: A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites."
+BMGC_DS00658,BMG_DS000837,NCI: A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. | MONDO: A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida.
+BMGC_DS00659,BMG_DS000838,MONDO: Infection with flukes of the genus Dicrocoelium. | MeSH: Infection with flukes of the genus Dicrocoelium.
+BMGC_DS00660,BMG_DS000840,MONDO: Gastrointestinal infection with organisms of the genus dientamoeba. | MeSH: Gastrointestinal infection with organisms of the genus DIENTAMOEBA.
+BMGC_DS00661,BMG_DS000841,"MONDO: A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. | MeSH: Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies."
+BMGC_DS00662,BMG_DS000842,MeSH: Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).
+BMGC_DS00663,BMG_DS000843,MONDO: A neoplasm (disease) that involves the digestive system. | MeSH: Tumors or cancer of the DIGESTIVE SYSTEM.
+BMGC_DS00664,BMG_DS000845,MONDO: A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids. | MeSH: Infections with nematodes of the genus DIPETALONEMA.
+BMGC_DS00665,BMG_DS000846,"MONDO: A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects."
+BMGC_DS00666,BMG_DS000849,"NCI: A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla. | MONDO: A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla."
+BMGC_DS00667,BMG_DS000853,"MONDO: Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anemia caused by vitamin B12 deficiency that resembles Biermer anemia (anemia characterized by abnormally large red blood cells). | MeSH: Infection with tapeworms of the genus Diphyllobothrium."
+BMGC_DS00668,BMG_DS000854,MeSH: A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE.
+BMGC_DS00669,BMG_DS000855,"MONDO: Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans. | MeSH: Infection with nematodes of the genus DIROFILARIA, usually in animals, especially dogs, but occasionally in man."
+BMGC_DS00670,BMG_DS000856,"MONDO: OBSOLETE. Inflammation of an intervertebral disk or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others. | MeSH: Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others."
+BMGC_DS00671,BMG_DS000857,"MONDO: A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta. | MeSH: A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA."
+BMGC_DS00672,BMG_DS000858,"MONDO: A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. | MeSH: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown."
+BMGC_DS00673,BMG_DS000863,"MONDO: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. | MeSH: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)"
+BMGC_DS00674,BMG_DS000864,
+BMGC_DS00675,BMG_DS000865,"NCI: A classification of disorders in the Diagnostic and Statistical Manual of Mental Disorders (DSM) that are usually diagnosed in infancy, childhood or adolescence and are characterized by an individual's inability to behave in a cooperative manner. | MONDO: A mental disorder that includes conduct disorder (CD), oppositional defiant disorder (ODD), and attention Deficit Hyperactivity Disorder (ADHD). Features may include frequent aggression, deceitfulness, and defiance, and often persist through the lifespan."
+BMGC_DS00676,BMG_DS000866,NCI: A dissecting aneurysm formed between the intimal and medial layers of the aortic wall due to a tear in the tunica intima.
+BMGC_DS00677,BMG_DS000868,"MONDO: A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. | MeSH: A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism may arise from any of a number of disorders. A majority of the patients manifest skin lesions, sometimes leading to PURPURA FULMINANS."
+BMGC_DS00678,BMG_DS000869,"MONDO: A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment. | MeSH: Sudden temporary alterations in the normally integrative functions of consciousness."
+BMGC_DS00679,BMG_DS000872,"MONDO: An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis. | MeSH: Inflammation of a DIVERTICULUM or diverticula."
+BMGC_DS00680,BMG_DS000873,"MONDO: Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation. | MeSH: Inflammation of the COLONIC DIVERTICULA, generally with abscess formation and subsequent perforation."
+BMGC_DS00681,BMG_DS000875,
+BMGC_DS00682,BMG_DS000877,"MONDO: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used. | MeSH: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used."
+BMGC_DS00683,BMG_DS000878,"MONDO: Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle. | MeSH: Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted."
+BMGC_DS00684,BMG_DS000880,"MONDO: Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. | MeSH: A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)"
+BMGC_DS00685,BMG_DS000881,"MONDO: Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas). | MeSH: Infection with nematodes of the genus Dracunculus. One or more worms may be seen at a time, with the legs and feet being the most commonly infected areas. Symptoms include pruritus, nausea, vomiting, diarrhea, or asthmatic attacks."
+BMGC_DS00686,BMG_DS000882,
+BMGC_DS00687,BMG_DS000883,MONDO: Immunologically mediated adverse reactions to medicinal substances used legally or illegally. | MeSH: Immunologically mediated adverse reactions to medicinal substances used legally or illegally.
+BMGC_DS00688,BMG_DS000884,"MONDO: A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye. | MeSH: Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur."
+BMGC_DS00689,BMG_DS000885,"MONDO: A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) | MeSH: A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)"
+BMGC_DS00690,BMG_DS000886,"MONDO: Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia. | MeSH: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE."
+BMGC_DS00691,BMG_DS000887,"MONDO: Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. | MeSH: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)"
+BMGC_DS00692,BMG_DS000888,"MONDO: A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. | MeSH: A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth."
+BMGC_DS00693,BMG_DS000889,"MONDO: A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss. | MeSH: Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus."
+BMGC_DS00694,BMG_DS000890,"MONDO: Pathological conditions in the duodenum region of the small intestine (intestine, small). | MeSH: Pathological conditions in the DUODENUM region of the small intestine (INTESTINE, SMALL)."
+BMGC_DS00695,BMG_DS000891,MONDO: A neoplasm (disease) that involves the duodenum. | MeSH: Tumors or cancer of the DUODENUM.
+BMGC_DS00696,BMG_DS000892,"MONDO: Blockage of the normal flow of stomach contents through the duodenum. | MeSH: Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents."
+BMGC_DS00697,BMG_DS000893,MONDO: An ulcer in the duodenal wall. | MeSH: A PEPTIC ULCER located in the DUODENUM.
+BMGC_DS00698,BMG_DS000894,"MONDO: Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain. | MeSH: Inflammation of the DUODENUM section of the small intestine (INTESTINE, SMALL). Erosive duodenitis may cause bleeding in the UPPER GI TRACT and PEPTIC ULCER."
+BMGC_DS00699,BMG_DS000895,MONDO: Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach. | MeSH: Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH.
+BMGC_DS00700,BMG_DS000896,"MONDO: Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared). | MeSH: A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50."
+BMGC_DS00701,BMG_DS000897,MeSH: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
+BMGC_DS00702,BMG_DS000898,"MONDO: Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone. | MeSH: A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development."
+BMGC_DS00703,BMG_DS000899,"NCI: An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis. | MONDO: An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis."
+BMGC_DS00704,BMG_DS000900,"MONDO: A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. | MeSH: An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)"
+BMGC_DS00705,BMG_DS000901,"MONDO: Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. | MeSH: Acute inflammation of the intestine associated with infectious DIARRHEA of various etiologies, generally acquired by eating contaminated food containing TOXINS, BIOLOGICAL derived from BACTERIA or other microorganisms. Dysentery is characterized initially by watery FECES then by bloody mucoid stools. It is often associated with ABDOMINAL PAIN; FEVER; and DEHYDRATION."
+BMGC_DS00706,BMG_DS000902,"MONDO: Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites. | MeSH: DYSENTERY caused by intestinal amebic infection, chiefly with ENTAMOEBA HISTOLYTICA. This condition may be associated with amebic infection of the LIVER and other distant sites."
+BMGC_DS00707,BMG_DS000903,"NCI: An intestinal disease cause by Shigella bacteria. | MONDO: Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts. | MeSH: DYSENTERY caused by gram-negative rod-shaped enteric bacteria (ENTEROBACTERIACEAE), most often by the genus SHIGELLA. Shigella dysentery, Shigellosis, is classified into subgroups according to syndrome severity and the infectious species. Group A: SHIGELLA DYSENTERIAE (severest); Group B: SHIGELLA FLEXNERI; Group C: SHIGELLA BOYDII; and Group D: SHIGELLA SONNEI (mildest)."
+BMGC_DS00708,BMG_DS000904,"MONDO: An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. | MeSH: An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins."
+BMGC_DS00709,BMG_DS000905,"MONDO: A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage. | MeSH: A malignant ovarian neoplasm, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. It is the counterpart of the classical seminoma of the testis, to which it is both grossly and histologically identical. Dysgerminomas comprise 16% of all germ cell tumors but are rare before the age of 10, although nearly 50% occur before the age of 20. They are generally considered of low-grade malignancy but may spread if the tumor extends through its capsule and involves lymph nodes or blood vessels. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1646)"
+BMGC_DS00710,BMG_DS000906,"MONDO: Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199) | MeSH: Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)"
+BMGC_DS00711,BMG_DS000907,"MeSH: A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (INFARCTION, POSTERIOR CEREBRAL ARTERY) and other BRAIN DISEASES."
+BMGC_DS00712,BMG_DS000908,MeSH: Painful menstruation.
+BMGC_DS00713,BMG_DS000909,"MONDO: A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones. | MeSH: Defective bone formation involving individual bones, singly or in combination."
+BMGC_DS00714,BMG_DS000911,"MONDO: An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease. | MeSH: Impaired digestion, especially after eating."
+BMGC_DS00715,BMG_DS000912,
+BMGC_DS00716,BMG_DS000914,"MONDO: A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression. | MeSH: Chronically depressed mood that occurs for most of the day more days than not for at least 2 years. The required minimum duration in children to make this diagnosis is 1 year. During periods of depressed mood, at least 2 of the following additional symptoms are present: poor appetite or overeating, insomnia or hypersomnia, low energy or fatigue, low self-esteem, poor concentration or difficulty making decisions, and feelings of hopelessness. (DSM-IV)"
+BMGC_DS00717,BMG_DS000916,"MONDO: A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. | MeSH: An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)"
+BMGC_DS00718,BMG_DS000917,"MeSH: A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)"
+BMGC_DS00719,BMG_DS000918,NCI: A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness. | MONDO: A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.
+BMGC_DS00720,BMG_DS000919,"MONDO: A disease that involves the ear. | MeSH: Pathological processes of the ear, the hearing, and the equilibrium system of the body."
+BMGC_DS00721,BMG_DS000920,"MONDO: A neoplasm (disease) that involves the ear. | MeSH: Tumors or cancer of any part of the hearing and equilibrium system of the body (the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR)."
+BMGC_DS00722,BMG_DS000922,MONDO: A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.
+BMGC_DS00723,BMG_DS000923,"MONDO: Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction."
+BMGC_DS00724,BMG_DS000924,"MONDO: A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. | MeSH: An infection caused by the infestation of the larval form of tapeworms of the genus Echinococcus. The liver, lungs, and kidney are the most common areas of infestation."
+BMGC_DS00725,BMG_DS000927,MONDO: Infection by flukes of the genus Echinostoma. | MeSH: Infection by flukes of the genus Echinostoma.
+BMGC_DS00726,BMG_DS000928,"MONDO: A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song. | MeSH: Involuntary (parrot-like), meaningless repetition of a recently heard word, phrase, or song. This condition may be associated with transcortical APHASIA; SCHIZOPHRENIA; or other disorders. (From Adams et al., Principles of Neurology, 6th ed, p485)"
+BMGC_DS00727,BMG_DS000930,MONDO: A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. | MeSH: Onset of HYPERREFLEXIA; SEIZURES; or COMA in a previously diagnosed pre-eclamptic patient (PRE-ECLAMPSIA).
+BMGC_DS00728,BMG_DS000931,"MONDO: An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed) | MeSH: An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)"
+BMGC_DS00729,BMG_DS000932,"MONDO: An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans. | MeSH: An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to man."
+BMGC_DS00730,BMG_DS000933,"MONDO: The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. | MeSH: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita."
+BMGC_DS00731,BMG_DS000934,"MONDO: Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods. | MeSH: Infestations by PARASITES which live on, or burrow into, the surface of their host's EPIDERMIS. Most ectoparasites are ARTHROPODS."
+BMGC_DS00732,BMG_DS000936,MeSH: Congenital displacement of the lens resulting from defective zonule formation.
+BMGC_DS00733,BMG_DS000937,"MONDO: A viral infection of mice, causing edema and necrosis followed by limb loss. | MeSH: A viral infection of mice, causing edema and necrosis followed by limb loss."
+BMGC_DS00734,BMG_DS000938,"MONDO: The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed) | MeSH: The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)"
+BMGC_DS00735,BMG_DS000939,MeSH: A dermatitis characterized by a spongiotic tissue reaction pattern occurring as a reaction to many endogenous and exogenous agents.
+BMGC_DS00736,BMG_DS000944,"MONDO: The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. | MeSH: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability."
+BMGC_DS00737,BMG_DS000946,"MeSH: Infections with nematodes of the superfamily FILARIOIDEA. The presence of living worms in the body is mainly asymptomatic but the death of adult worms leads to granulomatous inflammation and permanent fibrosis. Organisms of the genus Elaeophora infect wild elk and domestic sheep causing ischemic necrosis of the brain, blindness, and dermatosis of the face."
+BMGC_DS00738,BMG_DS000947,"MONDO: Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph. | MeSH: Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL."
+BMGC_DS00739,BMG_DS000948,MONDO: Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis. | MeSH: Parasitic infestation of the human lymphatic system by WUCHERERIA BANCROFTI or BRUGIA MALAYI. It is also called lymphatic filariasis.
+BMGC_DS00740,BMG_DS000949,MONDO: Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. | MeSH: An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.
+BMGC_DS00741,BMG_DS000950,"MONDO: Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. | MeSH: Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)"
+BMGC_DS00742,BMG_DS000953,MeSH: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
+BMGC_DS00743,BMG_DS000954,"MONDO: Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person. | MeSH: A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS."
+BMGC_DS00744,BMG_DS000956,"MeSH: Inflammation of the GALLBLADDER; generally caused by impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, or other diseases."
+BMGC_DS00745,BMG_DS000957,"MONDO: The presence of pus in the thoracic cavity, between the visceral and parietal pleura. | MeSH: Suppurative inflammation of the pleural space."
+BMGC_DS00746,BMG_DS000958,MONDO: An empyema resulting from infection by Mycobacterium tuberculosis. | MeSH: Empyema due to MYCOBACTERIUM TUBERCULOSIS.
+BMGC_DS00747,BMG_DS000959,"MONDO: An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. | MeSH: Inflammation of the BRAIN due to infection, autoimmune processes, toxins, and other conditions. Viral infections (see ENCEPHALITIS, VIRAL) are a relatively frequent cause of this condition."
+BMGC_DS00748,BMG_DS000960,"ORPHANET: A rare brain inflammatory disease characterized by acute or subacute encephalitis with involvement of the midbrain and basal ganglia occurring in children as well as adults. Initial symptoms are pharyngitis and fever, followed by progressive lethargy, sleep disturbances, extrapyramidal symptoms (parkinsonism, chorea, dystonia), neuropsychiatric manifestations (obsessive-compulsive behavior, mutism, catatonia), and ocular features (oculogyric crises). Autoantibodies against human basal ganglia are often positive. Survivors may develop post-encephalitic syndromes, most prominently parkinsonism. | MONDO: A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache."
+BMGC_DS00749,BMG_DS000961,"MeSH: A viral infection of the brain caused by serotypes of California encephalitis virus (ENCEPHALITIS VIRUS, CALIFORNIA) transmitted to humans by the mosquito AEDES triseriatus. The majority of cases are caused by the LA CROSSE VIRUS. This condition is endemic to the midwestern United States and primarily affects children between 5-10 years of age. Clinical manifestations include FEVER; VOMITING; HEADACHE; and abdominal pain followed by SEIZURES, altered mentation, and focal neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13)"
+BMGC_DS00750,BMG_DS000962,"MeSH: Encephalitis caused by neurotropic viruses that are transmitted via the bite of TICKS. In Europe, the diseases are caused by ENCEPHALITIS VIRUSES, TICK-BORNE, which give rise to Russian spring-summer encephalitis, central European encephalitis, louping ill encephalitis, and related disorders. Powassan encephalitis occurs in North America and Russia and is caused by the Powassan virus. ASEPTIC MENINGITIS and rarely encephalitis may complicate COLORADO TICK FEVER which is endemic to mountainous regions of the western United States. (From Joynt, Clinical Neurology, 1996, Ch26, pp14-5)"
+BMGC_DS00751,BMG_DS000963,
+BMGC_DS00752,BMG_DS000964,"MONDO: A disease due to a virus transmitted by an arthropod). | MeSH: A mosquito-borne encephalitis caused by the Japanese B encephalitis virus (ENCEPHALITIS VIRUS, JAPANESE) occurring throughout Eastern Asia and Australia. The majority of infections occur in children and are subclinical or have features limited to transient fever and gastrointestinal symptoms. Inflammation of the brain, spinal cord, and meninges may occur and lead to transient or permanent neurologic deficits (including a POLIOMYELITIS-like presentation); SEIZURES; COMA; and death. (From Adams et al., Principles of Neurology, 6th ed, p751; Lancet 1998 Apr 11;351(9109):1094-7)"
+BMGC_DS00753,BMG_DS000966,"MONDO: Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system. | MeSH: An acute or subacute inflammatory process of the CENTRAL NERVOUS SYSTEM characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include CONFUSION, somnolence, FEVER, nuchal rigidity, and involuntary movements. The illness may progress to COMA and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)"
+BMGC_DS00754,BMG_DS000967,"MONDO: A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750) | MeSH: A viral encephalitis caused by the St. Louis encephalitis virus (ENCEPHALITIS VIRUS, ST. LOUIS), a FLAVIVIRUS. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus CULEX. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an ASEPTIC MENINGITIS or ENCEPHALITIS. Clinical manifestations of the encephalitic presentation may include SEIZURES, lethargy, MYOCLONUS, focal neurologic signs, COMA, and DEATH. (From Adams et al., Principles of Neurology, 6th ed, p750)"
+BMGC_DS00755,BMG_DS000969,"MONDO: A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. | MeSH: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur."
+BMGC_DS00756,BMG_DS000971,"HPO: A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-2972-5481]"
+BMGC_DS00757,BMG_DS000972,"MONDO: Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. | MeSH: Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)"
+BMGC_DS00758,BMG_DS000973,"MONDO: Inflammation of the brain and the spinal cord. | MeSH: A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature."
+BMGC_DS00759,BMG_DS000976,"MONDO: Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL. | MeSH: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, SEIZURES, and COMA. It may follow a viral illness or MYCOPLASMA PNEUMONIAE infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)"
+BMGC_DS00760,BMG_DS000977,"MONDO: A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting. | MeSH: A form of arboviral encephalitis endemic to Central America and the northern latitudes of South America. The causative organism (ENCEPHALITIS VIRUS, VENEZUELAN EQUINE) is transmitted to humans and horses via the bite of several mosquito species. Human viral infection may be asymptomatic or remain restricted to a mild influenza-like illness. Encephalitis, usually not severe, occurs in a small percentage of cases and may rarely feature SEIZURES and COMA. (From Joynt, Clinical Neurology, 1996, Ch26, pp9-10)"
+BMGC_DS00761,BMG_DS000978,MONDO: A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. | MeSH: Benign growths of cartilage in the metaphyses of several bones.
+BMGC_DS00762,BMG_DS000979,MONDO: Inflammation of the arterial intima. | MeSH: Inflammation of the inner endothelial lining (TUNICA INTIMA) of an artery.
+BMGC_DS00763,BMG_DS000980,"MeSH: A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves."
+BMGC_DS00764,BMG_DS000981,"MONDO: Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia. | MeSH: A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis."
+BMGC_DS00765,BMG_DS000982,"MONDO: Inflammation of the endocardium. | MeSH: Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening."
+BMGC_DS00766,BMG_DS000983,"MONDO: Endocarditis that is caused by an infection with a bacterial agent. | MeSH: Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use."
+BMGC_DS00767,BMG_DS000985,NCI: Inflammation of the endocervix. | MONDO: Inflammation of the endocervix.
+BMGC_DS00768,BMG_DS000986,"MONDO: A disease involving the endocrine system. | MeSH: Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES."
+BMGC_DS00769,BMG_DS000987,"MONDO: A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. | MeSH: Tumors or cancer of the ENDOCRINE GLANDS."
+BMGC_DS00770,BMG_DS000988,"MONDO: A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. | MeSH: An unusual and aggressive tumor of germ-cell origin that reproduces the extraembryonic structures of the early embryo. It is the most common malignant germ cell tumor found in children. It is characterized by a labyrinthine glandular pattern of flat epithelial cells and rounded papillary processes with a central capillary (Schiller-Duval body). The tumor is rarely bilateral. Before the use of combination chemotherapy, the tumor was almost invariably fatal. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1189)"
+BMGC_DS00771,BMG_DS000989,"MONDO: A neoplasm (disease) that involves the endometrium. | MeSH: Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells."
+BMGC_DS00772,BMG_DS000990,"MONDO: OBSOLETE. A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia). | MeSH: Benign proliferation of the ENDOMETRIUM in the UTERUS. Endometrial hyperplasia is classified by its cytology and glandular tissue. There are simple, complex (adenomatous without atypia), and atypical hyperplasia representing also the ascending risk of becoming malignant."
+BMGC_DS00773,BMG_DS000991,"MONDO: The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. | MeSH: A condition in which functional endometrial tissue is present outside the UTERUS. It is often confined to the PELVIS involving the OVARY, the ligaments, cul-de-sac, and the uterovesical peritoneum."
+BMGC_DS00774,BMG_DS000992,"NCI: Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse. | MONDO: Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse."
+BMGC_DS00775,BMG_DS000993,"MONDO: An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. | MeSH: Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever."
+BMGC_DS00776,BMG_DS000996,MONDO: An infectious process affecting the internal structures of the eye. | MeSH: Suppurative inflammation of the tissues of the internal structures of the eye frequently associated with an infection.
+BMGC_DS00777,BMG_DS000997,"NCI: Infection of the interior of the eye, especially the aqueous and/or vitreous humor, by a parasite. | MONDO: Infection of the epicondyles by a parasite."
+BMGC_DS00778,BMG_DS000998,MeSH: Recession of the eyeball into the orbit.
+BMGC_DS00779,BMG_DS000999,"MeSH: Infection with amoebae of the genus ENTAMOEBA. Infection with E. histolytica causes DYSENTERY, AMEBIC and LIVER ABSCESS, AMEBIC."
+BMGC_DS00780,BMG_DS001001,MONDO: Inflammation of the small intestine. | MeSH: Inflammation of any segment of the SMALL INTESTINE.
+BMGC_DS00781,BMG_DS001004,MeSH: Infections with bacteria of the family ENTEROBACTERIACEAE.
+BMGC_DS00782,BMG_DS001005,"MONDO: An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. | MeSH: Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses."
+BMGC_DS00783,BMG_DS001006,MeSH: An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization.
+BMGC_DS00784,BMG_DS001009,MONDO: An disease caused by infection with Enterovirus. | MeSH: Diseases caused by ENTEROVIRUS.
+BMGC_DS00785,BMG_DS001010,"MONDO: The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) | MeSH: The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)"
+BMGC_DS00786,BMG_DS001011,"MONDO: An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years). | MeSH: Involuntary discharge of URINE after expected age of completed development of urinary control. This can happen during the daytime (DIURNAL ENURESIS) while one is awake or during sleep (NOCTURNAL ENURESIS). Enuresis can be in children or in adults (as persistent primary enuresis and secondary adult-onset enuresis)."
+BMGC_DS00787,BMG_DS001013,"MeSH: Abnormal increase of EOSINOPHILS in the blood, tissues or organs."
+BMGC_DS00788,BMG_DS001014,"MeSH: Abnormal increase of EOSINOPHILS in the blood, tissues or organs."
+BMGC_DS00789,BMG_DS001017,"MONDO: A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO) | MeSH: Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)"
+BMGC_DS00790,BMG_DS001018,MeSH: Infections with species of the genus MYCOPLASMA.
+BMGC_DS00791,BMG_DS001020,NCI: Inflammation of the epicondyles. | MONDO: Inflammation of the lateral epicondyle.
+BMGC_DS00792,BMG_DS001021,NCI: Keratoconjunctivitis resulting from infection by adenoviruses. | MONDO: Keratoconjunctivitis resulting from infection by adenoviruses.
+BMGC_DS00793,BMG_DS001024,"NCI: A systemic, serious, and life-threatening disorder characterized by erythematous and necrotic lesions in the skin and mucous membranes that are associated with bullous detachment of the epidermis. The epidermal and mucous membranes detachment leads to sepsis and may be fatal. The lesions appear throughout the body and occupy more than 30% of the body surfaces. It is a hypersensitivity reaction usually caused by drugs (e.g., sulfonamides, nonsteroidal anti-inflammatory drugs, anticonvulsants, and antiretroviral drugs). | MONDO: Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. | MeSH: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis."
+BMGC_DS00794,BMG_DS001026,"MONDO: A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. | MeSH: An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales."
+BMGC_DS00795,BMG_DS001027,"MONDO: Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. | MeSH: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties."
+BMGC_DS00796,BMG_DS001028,"MeSH: Fungal infection of keratinized tissues such as hair, skin and nails. The main causative fungi include MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON."
+BMGC_DS00797,BMG_DS001029,"MONDO: Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord. | MeSH: Inflammation of the EPIDIDYMIS. Its clinical features include enlarged epididymis, a swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD."
+BMGC_DS00798,BMG_DS001030,MONDO: A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord. | MeSH: Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord.
+BMGC_DS00799,BMG_DS001031,MONDO: Inflammation of the epiglottis. | MeSH: Inflammation of the EPIGLOTTIS.
+BMGC_DS00800,BMG_DS001032,"MONDO: A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. | MeSH: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)"
+BMGC_DS00801,BMG_DS001033,"MONDO: A seizure caused by a localized disorder. | MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS00802,BMG_DS001034,"MONDO: Epilepsy that is characterized by generalized seizure types and may have typical interictal and/or ictal EEG findings that accompany generalized seizure types (for example generalized spike-wave). | MeSH: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)"
+BMGC_DS00803,BMG_DS001035,"MONDO: A generalized tonic-clonic seizure. | MeSH: A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)"
+BMGC_DS00804,BMG_DS001036,"MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS00805,BMG_DS001037,"MONDO: An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. | MeSH: A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)"
+BMGC_DS00806,BMG_DS001038,"MONDO: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321) | MeSH: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the TEMPORAL LOBE, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic. (From Adams et al., Principles of Neurology, 6th ed, p321)."
+BMGC_DS00807,BMG_DS001040,"MeSH: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the TEMPORAL LOBE, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic. (From Adams et al., Principles of Neurology, 6th ed, p321)."
+BMGC_DS00808,BMG_DS001049,"MONDO: An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch. | MeSH: An acute infection of the skin caused by species of STREPTOCOCCUS. This disease most frequently affects infants, young children, and the elderly. Characteristics include pink-to-red lesions that spread rapidly and are warm to the touch. The commonest site of involvement is the face."
+BMGC_DS00809,BMG_DS001053,"MONDO: Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN). | MeSH: A skin and mucous membrane disease characterized by an eruption of macules, papules, nodules, vesicles, and/or bullae with characteristic bull's-eye lesions usually occurring on the dorsal aspect of the hands and forearms."
+BMGC_DS00810,BMG_DS001054,"MONDO: A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. | MeSH: An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. These nodules are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas. This condition usually subsides in 3-6 weeks without scarring or atrophy."
+BMGC_DS00811,BMG_DS001056,"NCI: A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff. | MONDO: A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff."
+BMGC_DS00812,BMG_DS001057,"MONDO: A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum. | MeSH: A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum."
+BMGC_DS00813,BMG_DS001058,"MONDO: A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. | MeSH: A condition characterized by the abnormal presence of ERYTHROBLASTS in the circulation of the FETUS or NEWBORNS. It is a disorder due to BLOOD GROUP INCOMPATIBILITY, such as the maternal alloimmunization by fetal antigen RH FACTORS leading to HEMOLYSIS of ERYTHROCYTES, hemolytic anemia (ANEMIA, HEMOLYTIC), general edema (HYDROPS FETALIS), and SEVERE JAUNDICE IN NEWBORN."
+BMGC_DS00814,BMG_DS001059,"MeSH: The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis)."
+BMGC_DS00815,BMG_DS001061,"MONDO: A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. | MeSH: A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS."
+BMGC_DS00816,BMG_DS001062,"NCI: An autosomal dominant condition caused by mutation(s) in the SCN9A gene, encoding sodium channel protein type 9 subunit alpha. It is characterized by episodes of recurrent warmth, redness, and burning sensations in the extremities. | MONDO: Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder. | MeSH: A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS."
+BMGC_DS00817,BMG_DS001065,MONDO: Infection with the organism Escherichia Coli. | MeSH: Infections with bacteria of the species ESCHERICHIA COLI.
+BMGC_DS00818,BMG_DS001066,"MONDO: A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food. | MeSH: A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus)."
+BMGC_DS00819,BMG_DS001067,"MONDO: A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. | MeSH: Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA."
+BMGC_DS00820,BMG_DS001068,"MONDO: A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. | MeSH: Pathological processes in the ESOPHAGUS."
+BMGC_DS00821,BMG_DS001069,"MONDO: Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus). | MeSH: Disorders affecting the motor function of the UPPER ESOPHAGEAL SPHINCTER; LOWER ESOPHAGEAL SPHINCTER; the ESOPHAGUS body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (GASTROESOPHAGEAL REFLUX). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)."
+BMGC_DS00822,BMG_DS001070,MONDO: A neoplasm (disease) that involves the esophagus. | MeSH: Tumors or cancer of the ESOPHAGUS.
+BMGC_DS00823,BMG_DS001072,MeSH: A stricture of the ESOPHAGUS. Most are acquired but can be congenital.
+BMGC_DS00824,BMG_DS001073,"MONDO: Abnormally dilated veins of the esophagus. | MeSH: Dilated blood vessels in the ESOPHAGUS or GASTRIC FUNDUS that shunt blood from the portal circulation (PORTAL SYSTEM) to the systemic venous circulation. Often they are observed in individuals with portal hypertension (HYPERTENSION, PORTAL)."
+BMGC_DS00825,BMG_DS001074,"MONDO: An acute or chronic inflammatory disease affecting the esophageal wall. | MeSH: INFLAMMATION, acute or chronic, of the ESOPHAGUS caused by BACTERIA, chemicals, or TRAUMA."
+BMGC_DS00826,BMG_DS001075,MONDO: Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum. | MeSH: INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM.
+BMGC_DS00827,BMG_DS001076,"MONDO: A form of strabismus in which one or both eyes are deviated medially. | MeSH: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze."
+BMGC_DS00828,BMG_DS001078,MONDO: An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus. | MeSH: Inflammation of the NASAL MUCOSA in the ETHMOID SINUS. It may present itself as an acute (infectious) or chronic (allergic) condition.
+BMGC_DS00829,BMG_DS001079,"MONDO: Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. | MeSH: Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased."
+BMGC_DS00830,BMG_DS001080,"MONDO: Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. | MeSH: Diseases in which skin eruptions or rashes are a prominent manifestation. Classically, six such diseases were described with similar rashes; they were numbered in the order in which they were reported. Only the fourth (Duke's disease), fifth (ERYTHEMA INFECTIOSUM), and sixth (EXANTHEMA SUBITUM) numeric designations survive as occasional synonyms in current terminology."
+BMGC_DS00831,BMG_DS001081,"MONDO: An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. | MeSH: An acute, short-lived, viral disease of infants and young children characterized by a high fever at onset that drops to normal after 3-4 days and the concomitant appearance of a macular or maculopapular rash that appears first on the trunk and then spreads to other areas. It is the sixth of the classical exanthematous diseases and is caused by HHV-6; (HERPESVIRUS 6, HUMAN). (From Dorland, 27th ed)"
+BMGC_DS00832,BMG_DS001084,"MONDO: The anterior displacement of the eye within the orbit, giving a bulging appearance. | MeSH: Abnormal protrusion of both eyes; may be caused by endocrine gland malfunction, malignancy, injury, or paralysis of the extrinsic muscles of the eye."
+BMGC_DS00833,BMG_DS001086,"MONDO: A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. | MeSH: Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation."
+BMGC_DS00834,BMG_DS001087,"MONDO: A form of strabismus in which the eyes are deviated laterally. | MeSH: A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction."
+BMGC_DS00835,BMG_DS001089,MeSH: Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
+BMGC_DS00836,BMG_DS001090,MONDO: A disease that involves the orbital region. | MeSH: Diseases affecting the eye.
+BMGC_DS00837,BMG_DS001091,"MeSH: Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder."
+BMGC_DS00838,BMG_DS001092,"MONDO: An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma. | MeSH: Infection, moderate to severe, caused by bacteria, fungi, or viruses, which occurs either on the external surface of the eye or intraocularly with probable inflammation, visual impairment, or blindness."
+BMGC_DS00839,BMG_DS001093,"MeSH: Infections in the inner or external eye caused by microorganisms belonging to several families of bacteria. Some of the more common genera found are Haemophilus, Neisseria, Staphylococcus, Streptococcus, and Chlamydia."
+BMGC_DS00840,BMG_DS001094,"MONDO: Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses. | MeSH: Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses."
+BMGC_DS00841,BMG_DS001096,"MONDO: Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. | MeSH: Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus."
+BMGC_DS00842,BMG_DS001097,MONDO: A neoplasm (disease) that involves the eye. | MeSH: Tumors or cancer of the EYE.
+BMGC_DS00843,BMG_DS001098,MONDO: A disease involving the eyelid. | MeSH: Diseases involving the EYELIDS.
+BMGC_DS00844,BMG_DS001099,"MONDO: A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma. | MeSH: Tumors of cancer of the EYELIDS."
+BMGC_DS00845,BMG_DS001100,"MONDO: Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder. | MeSH: Skin diseases involving the FACE."
+BMGC_DS00846,BMG_DS001101,"MONDO: Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. | MeSH: A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes."
+BMGC_DS00847,BMG_DS001102,"MONDO: A disease involving the facial nerve. | MeSH: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation."
+BMGC_DS00848,BMG_DS001103,MONDO: Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. | MeSH: Neuralgic syndromes which feature chronic or recurrent FACIAL PAIN as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.
+BMGC_DS00849,BMG_DS001104,MONDO: Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis. | MeSH: Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.
+BMGC_DS00850,BMG_DS001106,
+BMGC_DS00851,BMG_DS001107,"MONDO: Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. | MeSH: A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)"
+BMGC_DS00852,BMG_DS001108,MONDO: A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. | MeSH: An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation.
+BMGC_DS00853,BMG_DS001109,"MONDO: A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. | MeSH: Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption."
+BMGC_DS00854,BMG_DS001110,"MONDO: Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. | MeSH: A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia."
+BMGC_DS00855,BMG_DS001111,"MONDO: Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. | MeSH: An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time."
+BMGC_DS00856,BMG_DS001112,MONDO: Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. | MeSH: A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood clot formation and results in a clinical hemorrhagic diathesis.
+BMGC_DS00857,BMG_DS001113,MeSH: A condition of substandard growth or diminished capacity to maintain normal function.
+BMGC_DS00858,BMG_DS001114,MONDO: A disease involving the fallopian tube. | MeSH: Diseases involving the FALLOPIAN TUBES including neoplasms (FALLOPIAN TUBE NEOPLASMS); SALPINGITIS; tubo-ovarian abscess; and blockage.
+BMGC_DS00859,BMG_DS001115,"MONDO: A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma. | MeSH: Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk."
+BMGC_DS00860,BMG_DS001116,"MONDO: A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. | MeSH: A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA."
+BMGC_DS00861,BMG_DS001117,"MONDO: Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. | MeSH: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)"
+BMGC_DS00862,BMG_DS001119,"MONDO: Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs. | MeSH: A form of alveolitis or pneumonitis due to an acquired hypersensitivity to inhaled antigens associated with farm environment. Antigens in the farm dust are commonly from bacteria actinomycetes (SACCHAROPOLYSPORA and THERMOACTINOMYCES), fungi, and animal proteins in the soil, straw, crops, pelts, serum, and excreta."
+BMGC_DS00863,BMG_DS001120,MeSH: A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles.
+BMGC_DS00864,BMG_DS001121,"MONDO: Inflammation process in fascia. | MeSH: Inflammation of the fascia. There are three major types: 1, Eosinophilic fasciitis, an inflammatory reaction with eosinophilia, producing hard thickened skin with an orange-peel configuration suggestive of scleroderma and considered by some a variant of scleroderma; 2, Necrotizing fasciitis (FASCIITIS, NECROTIZING), a serious fulminating infection (usually by a beta hemolytic streptococcus) causing extensive necrosis of superficial fascia; 3, Nodular/Pseudosarcomatous /Proliferative fasciitis, characterized by a rapid growth of fibroblasts with mononuclear inflammatory cells and proliferating capillaries in soft tissue, often the forearm; it is not malignant but is sometimes mistaken for fibrosarcoma."
+BMGC_DS00865,BMG_DS001122,"MONDO: A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction. | MeSH: Liver disease caused by infections with parasitic flukes of the genus FASCIOLA, such as FASCIOLA HEPATICA."
+BMGC_DS00866,BMG_DS001123,MONDO: Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma. | MeSH: Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.
+BMGC_DS00867,BMG_DS001124,"NCI: A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. | MONDO: A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. | MeSH: Infections caused by infestation with worms of the class Trematoda."
+BMGC_DS00868,BMG_DS001125,"MONDO: A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. | MeSH: A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)"
+BMGC_DS00869,BMG_DS001126,"MeSH: Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS."
+BMGC_DS00870,BMG_DS001127,"MONDO: Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated. | MeSH: Lipid infiltration of the hepatic parenchymal cells that is due to ALCOHOL ABUSE. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of TRIGLYCERIDES accumulated."
+BMGC_DS00871,BMG_DS001128,"MONDO: A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis. | MeSH: Hemolytic anemia due to the ingestion of fava beans or after inhalation of pollen from the Vicia fava plant by persons with glucose-6-phosphate dehydrogenase deficient erythrocytes."
+BMGC_DS00872,BMG_DS001129,MeSH: Skin diseases involving the FACE.
+BMGC_DS00873,BMG_DS001130,MONDO: A progressive bulbar palsy of childhood that occurs during childhood.
+BMGC_DS00874,BMG_DS001131,"MeSH: Failure of voluntary control of the anal sphincters, with involuntary passage of feces and flatus."
+BMGC_DS00875,BMG_DS001133,"MONDO: Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections. | MeSH: A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY."
+BMGC_DS00876,BMG_DS001134,MONDO: A neoplasm (disease) that involves the femur. | MeSH: New abnormal growth of tissue in the FEMUR.
+BMGC_DS00877,BMG_DS001135,"MeSH: Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE."
+BMGC_DS00878,BMG_DS001136,"MONDO: Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). | MeSH: An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETARDATION, central nervous system abnormalities, cognitive and/or behavioral dysfunction, BIRTH DEFECTS. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity."
+BMGC_DS00879,BMG_DS001137,MeSH: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
+BMGC_DS00880,BMG_DS001139,MONDO: A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. | MeSH: Failure of a FETUS to attain expected GROWTH.
+BMGC_DS00881,BMG_DS001140,"MeSH: The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS)."
+BMGC_DS00882,BMG_DS001141,"MONDO: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects (the \"
+BMGC_DS00883,BMG_DS001144,"MONDO: Fibrosis associated with cyst formation in the breast parenchyma. | MeSH: A common and benign breast disease characterized by varying degree of fibrocystic changes in the breast tissue. There are three major patterns of morphological changes, including FIBROSIS, formation of CYSTS, and proliferation of glandular tissue (adenosis). The fibrocystic breast has a dense irregular, lumpy, bumpy consistency."
+BMGC_DS00884,BMG_DS001145,MONDO: Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. | MeSH: A disease characterized by bony deposits or the ossification of muscle tissue.
+BMGC_DS00885,BMG_DS001147,MONDO: A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts. | MeSH: A benign tumor of fibrous or fully developed connective tissue.
+BMGC_DS00886,BMG_DS001148,NCI: A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. | MONDO: A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.
+BMGC_DS00887,BMG_DS001149,"MONDO: A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation. | MeSH: An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity."
+BMGC_DS00888,BMG_DS001150,"MONDO: A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. | MeSH: A common nonarticular rheumatic syndrome characterized by myalgia and multiple points of focal muscle tenderness to palpation (trigger points). Muscle pain is typically aggravated by inactivity or exposure to cold. This condition is often associated with general symptoms, such as sleep disturbances, fatigue, stiffness, HEADACHES, and occasionally DEPRESSION. There is significant overlap between fibromyalgia and the chronic fatigue syndrome (FATIGUE SYNDROME, CHRONIC). Fibromyalgia may arise as a primary or secondary disease process. It is most frequent in females aged 20 to 50 years. (From Adams et al., Principles of Neurology, 6th ed, p1494-95)"
+BMGC_DS00889,BMG_DS001151,"MONDO: A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. | MeSH: A sarcoma derived from deep fibrous tissue, characterized by bundles of immature proliferating fibroblasts with variable collagen formation, which tends to invade locally and metastasize by the bloodstream. (Stedman, 25th ed)"
+BMGC_DS00890,BMG_DS001152,MONDO: Fibrous dysplasia of bone involving only one bone. | MeSH: FIBROUS DYSPLASIA OF BONE involving only one bone.
+BMGC_DS00891,BMG_DS001153,"MONDO: Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome. | MeSH: FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome."
+BMGC_DS00892,BMG_DS001154,"MONDO: A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation. | MeSH: Infections with nematodes of the superfamily FILARIOIDEA. The presence of living worms in the body is mainly asymptomatic but the death of adult worms leads to granulomatous inflammation and permanent fibrosis. Organisms of the genus Elaeophora infect wild elk and domestic sheep causing ischemic necrosis of the brain, blindness, and dermatosis of the face."
+BMGC_DS00893,BMG_DS001156,MONDO: A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting. | MeSH: A compulsion to set fires.
+BMGC_DS00894,BMG_DS001157,"MONDO: Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates). | MeSH: Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)."
+BMGC_DS00895,BMG_DS001158,MeSH: A painful linear tear at the margin of the anus. It appears as a crack or slit in the mucous membrane of the anus and is very painful and difficult to heal.
+BMGC_DS00896,BMG_DS001159,"MONDO: An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground. | MeSH: Anomaly in which one or more of the arches of the feet are flat."
+BMGC_DS00897,BMG_DS001160,"MONDO: A syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. | MeSH: A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait."
+BMGC_DS00898,BMG_DS001162,"NCI: A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. | MONDO: A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. | MeSH: A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur."
+BMGC_DS00899,BMG_DS001163,"MeSH: A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)"
+BMGC_DS00900,BMG_DS001165,"MONDO: Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds. | MeSH: Inflammation of follicles, primarily hair follicles."
+BMGC_DS00901,BMG_DS001166,"MeSH: Gastrointestinal disturbances, skin eruptions, or shock due to allergic reactions to allergens in food."
+BMGC_DS00902,BMG_DS001167,"MeSH: Skin diseases of the foot, general or unspecified."
+BMGC_DS00903,BMG_DS001168,MONDO: OBSOLETE. A disease or disorder that involves the pes. | MeSH: Anatomical and functional disorders affecting the foot.
+BMGC_DS00904,BMG_DS001171,"MONDO: A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes. | MeSH: A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance."
+BMGC_DS00905,BMG_DS001173,"MONDO: Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry. | MeSH: Infection of domestic and wild fowl and other BIRDS with INFLUENZA A VIRUS. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic POULTRY."
+BMGC_DS00906,BMG_DS001175,"MONDO: A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants. | MeSH: Chronic pruritic disease, usually in women, characterized by small follicular papular eruptions in APOCRINE GLANDS areas. It is caused by obstruction and rupture of intraepidermal apocrine ducts."
+BMGC_DS00907,BMG_DS001176,"MONDO: A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. | MeSH: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)"
+BMGC_DS00908,BMG_DS001178,"MONDO: A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism). | MeSH: A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric female(CHIMERISM)."
+BMGC_DS00909,BMG_DS001179,"MONDO: An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. | MeSH: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)"
+BMGC_DS00910,BMG_DS001180,"NCI: A rare acquired endocrine disorder more commonly affecting males. It is caused by lesions in the hypothalamus. Clinical signs include obesity, short stature, pubertal delay, hypogonadism, visual impairment, polydipsia and polyuria. | MONDO: Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today. | MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS00911,BMG_DS001181,"MONDO: An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus. | MeSH: Inflammation of the NASAL MUCOSA in the FRONTAL SINUS. In many cases, it is caused by an infection of the bacteria STREPTOCOCCUS PNEUMONIAE or HAEMOPHILUS INFLUENZAE."
+BMGC_DS00912,BMG_DS001182,"MONDO: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. | MeSH: An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet."
+BMGC_DS00913,BMG_DS001184,"MONDO: Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. | MeSH: An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal."
+BMGC_DS00914,BMG_DS001185,"MONDO: Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. | MeSH: Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain."
+BMGC_DS00915,BMG_DS001186,"ORPHANET: Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities. | MONDO: Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities."
+BMGC_DS00916,BMG_DS001187,"MONDO: Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. | MeSH: An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)"
+BMGC_DS00917,BMG_DS001188,
+BMGC_DS00918,BMG_DS001190,"MONDO: A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida. | MeSH: A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of STAPHYLOCOCCUS. In salmonid fish (SALMONIDS), the pathogen is AEROMONAS SALMONICIDA."
+BMGC_DS00919,BMG_DS001191,"MeSH: Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both."
+BMGC_DS00920,BMG_DS001193,"MONDO: Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. | MeSH: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)"
+BMGC_DS00921,BMG_DS001194,"MONDO: A disease involving the gall bladder. | MeSH: Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases."
+BMGC_DS00922,BMG_DS001195,MONDO: A neoplasm (disease) that involves the gall bladder. | MeSH: Tumors or cancer of the gallbladder.
+BMGC_DS00923,BMG_DS001197,MONDO: A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. | MeSH: A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
+BMGC_DS00924,BMG_DS001198,MeSH: Death and putrefaction of tissue usually due to a loss of blood supply.
+BMGC_DS00925,BMG_DS001199,"MONDO: Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. | MeSH: A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract."
+BMGC_DS00926,BMG_DS001201,"HPO: Extreme dilation of the submucusoal veins in the stomach. [https://orcid.org/0000-0002-0736-9199, PMID:24891929] | MeSH: Dilated blood vessels in the ESOPHAGUS or GASTRIC FUNDUS that shunt blood from the portal circulation (PORTAL SYSTEM) to the systemic venous circulation. Often they are observed in individuals with portal hypertension (HYPERTENSION, PORTAL)."
+BMGC_DS00927,BMG_DS001202,"MONDO: A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine. | MeSH: A GASTRIN-secreting neuroendocrine tumor of the non-beta ISLET CELLS, the GASTRIN-SECRETING CELLS. This type of tumor is primarily located in the PANCREAS or the DUODENUM. Majority of gastrinomas are malignant. They metastasize to the LIVER; LYMPH NODES; and BONE but rarely elsewhere. The presence of gastrinoma is one of three requirements to be met for identification of ZOLLINGER-ELLISON SYNDROME, which sometimes occurs in families with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; (MEN 1)."
+BMGC_DS00928,BMG_DS001203,"MONDO: Inflammation of the stomach. | MeSH: Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders."
+BMGC_DS00929,BMG_DS001204,"MONDO: Atrophic gastritis that is persistent and long-standing. | MeSH: GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis."
+BMGC_DS00930,BMG_DS001205,"MONDO: A rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss. | MeSH: GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS."
+BMGC_DS00931,BMG_DS001206,"MONDO: An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. | MeSH: INFLAMMATION of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Causes of gastroenteritis are many including genetic, infection, HYPERSENSITIVITY, drug effects, and CANCER."
+BMGC_DS00932,BMG_DS001207,MONDO: A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus. | MeSH: A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a CORONAVIRUS.
+BMGC_DS00933,BMG_DS001208,"MONDO: A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. | MeSH: Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER."
+BMGC_DS00934,BMG_DS001209,MeSH: Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
+BMGC_DS00935,BMG_DS001210,"MeSH: Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL."
+BMGC_DS00936,BMG_DS001211,"MONDO: Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). | MeSH: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement."
+BMGC_DS00937,BMG_DS001212,NCI: Atherosclerosis that is not localized. | MONDO: Atherosclerosis that is not localized.
+BMGC_DS00938,BMG_DS001213,"MeSH: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)"
+BMGC_DS00939,BMG_DS001215,"MONDO: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. | MeSH: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation."
+BMGC_DS00940,BMG_DS001216,"MONDO: A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption. | MeSH: A syndrome characterized by facial palsy in association with a herpetic eruption of the external auditory meatus. This may occasionally be associated with tinnitus, vertigo, deafness, severe otalgia, and inflammation of the pinna. The condition is caused by reactivation of a latent HERPESVIRUS 3, HUMAN infection which causes inflammation of the facial and vestibular nerves, and may occasionally involve additional cranial nerves. (From Adams et al., Principles of Neurology, 6th ed, p757)"
+BMGC_DS00941,BMG_DS001217,"MeSH: Pathological processes involving the female reproductive tract (GENITALIA, FEMALE)."
+BMGC_DS00942,BMG_DS001218,"MeSH: Pathological processes involving the male reproductive tract (GENITALIA, MALE)."
+BMGC_DS00943,BMG_DS001219,"MONDO: A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. | MeSH: Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)."
+BMGC_DS00944,BMG_DS001220,"MONDO: A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma. | MeSH: Tumor or cancer of the MALE GENITALIA."
+BMGC_DS00945,BMG_DS001221,
+BMGC_DS00946,BMG_DS001222,MONDO: Infection due to the fungus Geotrichum. | MeSH: Infection due to the fungus Geotrichum.
+BMGC_DS00947,BMG_DS001223,"MONDO: Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe. | MeSH: A disorder of cognition characterized by the tetrad of finger agnosia, dysgraphia, DYSCALCULIA, and right-left disorientation. The syndrome may be developmental or acquired. Acquired Gerstmann syndrome is associated with lesions in the dominant (usually left) PARIETAL LOBE which involve the angular gyrus or subjacent white matter. (From Adams et al., Principles of Neurology, 6th ed, p457)"
+BMGC_DS00948,BMG_DS001224,"MONDO: A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. | MeSH: An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)"
+BMGC_DS00949,BMG_DS001225,"MONDO: A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells. | MeSH: Tumors of bone tissue or synovial or other soft tissue characterized by the presence of giant cells. The most common are giant cell tumor of tendon sheath and GIANT CELL TUMOR OF BONE."
+BMGC_DS00950,BMG_DS001226,"MONDO: Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms."
+BMGC_DS00951,BMG_DS001227,MONDO: An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact. | MeSH: An infection of the SMALL INTESTINE caused by the flagellated protozoan GIARDIA. It is spread via contaminated food and water and by direct person-to-person contact.
+BMGC_DS00952,BMG_DS001228,"MONDO: The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. | MeSH: The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age."
+BMGC_DS00953,BMG_DS001229,"MONDO: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. | MeSH: A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level."
+BMGC_DS00954,BMG_DS001230,MONDO: A disease involving the gingiva. | MeSH: Diseases involving the GINGIVA.
+BMGC_DS00955,BMG_DS001231,MONDO: Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells. | MeSH: Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.
+BMGC_DS00956,BMG_DS001233,"MONDO: A loss of gum tissue resulting in an exposure of the roots of the teeth. | MeSH: Exposure of the root surface when the edge of the gum (GINGIVA) moves apically away from the crown of the tooth. This is common with advancing age, vigorous tooth brushing, diseases, or tissue loss of the gingiva, the PERIODONTAL LIGAMENT and the supporting bone (ALVEOLAR PROCESS)."
+BMGC_DS00957,BMG_DS001234,MONDO: A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth. | MeSH: Inflammation of gum tissue (GINGIVA) without loss of connective tissue.
+BMGC_DS00958,BMG_DS001235,"MONDO: A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins. | MeSH: An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA."
+BMGC_DS00959,BMG_DS001238,"MONDO: Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. | MeSH: An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)"
+BMGC_DS00960,BMG_DS001239,"MONDO: The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity. | MeSH: A form of glaucoma in which the intraocular pressure increases because the angle of the anterior chamber is blocked and the aqueous humor cannot drain from the anterior chamber."
+BMGC_DS00961,BMG_DS001240,"MONDO: An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component."
+BMGC_DS00962,BMG_DS001241,"MONDO: Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision. | MeSH: A form of secondary glaucoma which develops as a consequence of another ocular disease and is attributed to the forming of new vessels in the angle of the anterior chamber."
+BMGC_DS00963,BMG_DS001242,MONDO: Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. | MeSH: Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.
+BMGC_DS00964,BMG_DS001243,SNOMEDCT_US: At least 1 of these in 1 eye: optic nerve or nerve fiber layer suggestive of glaucoma; abnormal visual field consistent with glaucoma; an elevated IOP > 22 mm Hg. | MeSH: A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma.
+BMGC_DS00965,BMG_DS001244,"MONDO: The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) | MeSH: A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures."
+BMGC_DS00966,BMG_DS001245,"MONDO: A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. | MeSH: Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21)"
+BMGC_DS00967,BMG_DS001246,"MONDO: A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities. | MeSH: A blue-red, extremely painful vascular neoplasm involving a glomeriform arteriovenous anastomosis (glomus body), which may be found anywhere in the skin, most often in the distal portion of the fingers and toes, especially beneath the nail. It is composed of specialized pericytes (sometimes termed glomus cells), usually in single encapsulated nodular masses which may be several millimeters in diameter (From Stedman, 27th ed). CHEMODECTOMA, a tumor of NEURAL CREST origin, is also sometimes called a glomus tumor."
+BMGC_DS00968,BMG_DS001248,"MONDO: A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. | MeSH: Inflammation of the renal glomeruli (KIDNEY GLOMERULUS) that can be classified by the type of glomerular injuries including antibody deposition, complement activation, cellular proliferation, and glomerulosclerosis. These structural and functional abnormalities usually lead to HEMATURIA; PROTEINURIA; HYPERTENSION; and RENAL INSUFFICIENCY."
+BMGC_DS00969,BMG_DS001249,MONDO: Inflammation of a specific segment of glomeruli within the kidney. | MeSH: A chronic form of glomerulonephritis characterized by deposits of predominantly IMMUNOGLOBULIN A in the mesangial area (GLOMERULAR MESANGIUM). Deposits of COMPLEMENT C3 and IMMUNOGLOBULIN G are also often found. Clinical features may progress from asymptomatic HEMATURIA to END-STAGE KIDNEY DISEASE.
+BMGC_DS00970,BMG_DS001250,"MONDO: Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. | MeSH: Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN."
+BMGC_DS00971,BMG_DS001251,"MONDO: A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. | MeSH: A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane."
+BMGC_DS00972,BMG_DS001252,"MONDO: A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. | MeSH: A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE."
+BMGC_DS00973,BMG_DS001255,MONDO: Inflammation of the tongue. | MeSH: Inflammation of the tongue.
+BMGC_DS00974,BMG_DS001256,"MONDO: A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment. | MeSH: An idiopathic disorder of the tongue characterized by the loss of filiform papillae leaving reddened areas of circinate macules bound by a white band. The lesions heal, then others erupt."
+BMGC_DS00975,BMG_DS001257,"MONDO: Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. | MeSH: An almost always malignant GLUCAGON-secreting tumor derived from the PANCREATIC ALPHA CELLS. It is characterized by a distinctive migratory ERYTHEMA; WEIGHT LOSS; STOMATITIS; GLOSSITIS; DIABETES MELLITUS; hypoaminoacidemia; and normochromic normocytic ANEMIA."
+BMGC_DS00976,BMG_DS001258,"MONDO: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. | MeSH: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement."
+BMGC_DS00977,BMG_DS001259,"MONDO: Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. | MeSH: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood."
+BMGC_DS00978,BMG_DS001260,"MONDO: Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. | MeSH: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)"
+BMGC_DS00979,BMG_DS001261,"MONDO: Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. | MeSH: An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent."
+BMGC_DS00980,BMG_DS001262,"MONDO: Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. | MeSH: An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2."
+BMGC_DS00981,BMG_DS001263,"MONDO: Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. | MeSH: Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise."
+BMGC_DS00982,BMG_DS001264,"MONDO: Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. | MeSH: A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity."
+BMGC_DS00983,BMG_DS001265,"MONDO: Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood. | MeSH: An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant."
+BMGC_DS00984,BMG_DS001266,"MeSH: An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon."
+BMGC_DS00985,BMG_DS001267,
+BMGC_DS00986,BMG_DS001268,"MONDO: An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). | MeSH: Infections with nematodes of the genus GNATHOSTOMA, superfamily THELAZIOIDEA. Gnathostomiasis is a food-borne zoonosis caused by eating undercooked or raw fish or meat."
+BMGC_DS00987,BMG_DS001270,"MONDO: Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. | MeSH: Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC)."
+BMGC_DS00988,BMG_DS001271,MONDO: Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption. | MeSH: A form of IODINE deficiency disorders characterized by an enlargement of the THYROID GLAND in a significantly large fraction of a POPULATION GROUP. Endemic goiter is common in mountainous and iodine-deficient areas of the world where the DIET contains insufficient amount of iodine.
+BMGC_DS00989,BMG_DS001272,"MONDO: Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. | MeSH: An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS."
+BMGC_DS00990,BMG_DS001273,"MONDO: An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms. | MeSH: An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms."
+BMGC_DS00991,BMG_DS001274,MeSH: Hypertension due to RENAL ARTERY OBSTRUCTION or compression.
+BMGC_DS00992,BMG_DS001275,MONDO: A non-neoplastic or neoplastic disorder that affects the testis or the ovary. | MeSH: Pathological processes of the OVARIES or the TESTES.
+BMGC_DS00993,BMG_DS001276,"MONDO: A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. | MeSH: A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis."
+BMGC_DS00994,BMG_DS001277,"MeSH: Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination."
+BMGC_DS00995,BMG_DS001278,"MONDO: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. | MeSH: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution."
+BMGC_DS00996,BMG_DS001283,"MONDO: A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. | MeSH: Acute infectious disease characterized by primary invasion of the urogenital tract. The etiologic agent, NEISSERIA GONORRHOEAE, was isolated by Neisser in 1879."
+BMGC_DS00997,BMG_DS001284,"MONDO: A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. | MeSH: Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi."
+BMGC_DS00998,BMG_DS001286,"MONDO: An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. | MeSH: The clinical entity characterized by anorexia, diarrhea, loss of hair, leukopenia, thrombocytopenia, growth retardation, and eventual death brought about by the GRAFT VS HOST REACTION."
+BMGC_DS00999,BMG_DS001287,"HPO: The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. [https://orcid.org/0000-0002-0736-9199] | MONDO: A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. | MeSH: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect."
+BMGC_DS01000,BMG_DS001288,"MONDO: A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia. | MeSH: Anogenital ulcers caused by Calymmatobacterium granulomatis as distinguished from lymphogranuloma inguinale (see LYMPHOGRANULOMA VENEREUM) caused by CHLAMYDIA TRACHOMATIS. Diagnosis is made by demonstration of typical intracellular Donovan bodies in crushed-tissue smears."
+BMGC_DS01001,BMG_DS001290,"MONDO: An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma. | MeSH: A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS."
+BMGC_DS01002,BMG_DS001291,MeSH: Granulomatous disorders affecting one or more sites in the respiratory tract.
+BMGC_DS01003,BMG_DS001292,"NCI: Inflammation of the arteries that is characterized by the presence of granulomas. | MONDO: Inflammation of the arteries that is characterized by the presence of granulomas. | MeSH: Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61)"
+BMGC_DS01004,BMG_DS001293,"MONDO: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. | MeSH: A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern."
+BMGC_DS01005,BMG_DS001295,"MONDO: A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. | MeSH: A neoplasm composed entirely of GRANULOSA CELLS, occurring mostly in the OVARY. In the adult form, it may contain some THECA CELLS. This tumor often produces ESTRADIOL and INHIBIN. The excess estrogen exposure can lead to other malignancies in women and PRECOCIOUS PUBERTY in girls. In rare cases, granulosa cell tumors have been identified in the TESTES."
+BMGC_DS01006,BMG_DS001296,"MONDO: Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery. | MeSH: A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes (GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy)."
+BMGC_DS01007,BMG_DS001297,"MeSH: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect."
+BMGC_DS01008,BMG_DS001298,"MONDO: A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. | MeSH: An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)"
+BMGC_DS01009,BMG_DS001299,"MONDO: A congenital or acquired occlusion of an opening in any part of the female genital tract. | MeSH: Absence of a normal opening in the lumen of the female genital tract, from the FALLOPIAN TUBES to the VAGINA. This anomaly may be congenital or acquired due to injuries, diseases, or TISSUE ADHESIONS."
+BMGC_DS01010,BMG_DS001300,"MONDO: Development of breast tissue in males. | MeSH: Enlargement of the BREAST in the males, caused by an excess of ESTROGENS. Physiological gynecomastia is normally observed in NEWBORNS; ADOLESCENT; and AGING males."
+BMGC_DS01011,BMG_DS001301,"MONDO: A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract. | MeSH: Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood."
+BMGC_DS01012,BMG_DS001304,"MONDO: Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. | MeSH: Infection with nematodes of the genus HAEMONCHUS, characterized by digestive abnormalities and anemia similar to that from hookworm infestation."
+BMGC_DS01013,BMG_DS001305,MONDO: Infections with bacteria of the genus haemophilus. | MeSH: Infections with bacteria of the genus HAEMOPHILUS.
+BMGC_DS01014,BMG_DS001306,MeSH: Diseases affecting the orderly growth and persistence of hair.
+BMGC_DS01015,BMG_DS001308,"MONDO: Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. | MeSH: An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed)"
+BMGC_DS01016,BMG_DS001309,"MONDO: Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system. | MeSH: A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)"
+BMGC_DS01017,BMG_DS001310,MONDO: A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences.
+BMGC_DS01018,BMG_DS001311,NCI: A drug dependence for a hallucinogenic substance. | MONDO: A drug dependence for a hallucinogenic substance.
+BMGC_DS01019,BMG_DS001313,"MONDO: A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. | MeSH: A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area."
+BMGC_DS01020,BMG_DS001314,"MONDO: A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group. | MeSH: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE."
+BMGC_DS01021,BMG_DS001315,MONDO: Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual. | MeSH: Skin diseases involving the HANDS.
+BMGC_DS01022,BMG_DS001316,"MONDO: A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. | MeSH: A mild, highly infectious viral disease of children, characterized by vesicular lesions in the mouth and on the hands and feet. It is caused by coxsackieviruses A."
+BMGC_DS01023,BMG_DS001317,"MONDO: Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). | MeSH: An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19."
+BMGC_DS01024,BMG_DS001318,"MeSH: Use of marijuana associated with abnormal psychological, social, and or occupational functioning."
+BMGC_DS01025,BMG_DS001319,MONDO: Allergic rhinitis caused by outdoor allergens.
+BMGC_DS01026,BMG_DS001320,"MONDO: A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. | MeSH: Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)"
+BMGC_DS01027,BMG_DS001321,MeSH: Partial hearing loss in both ears.
+BMGC_DS01028,BMG_DS001323,MONDO: Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea. | MeSH: Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
+BMGC_DS01029,BMG_DS001324,MeSH: Hearing loss in frequencies above 1000 hertz.
+BMGC_DS01030,BMG_DS001325,MONDO: A condition in which a person loses the ability to hear due to exposure to high intensity sound. | MeSH: Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz.
+BMGC_DS01031,BMG_DS001326,MONDO: Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). | MeSH: Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
+BMGC_DS01032,BMG_DS001327,"MONDO: A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture. | MeSH: A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture."
+BMGC_DS01033,BMG_DS001328,"MONDO: Cessation of breathing and/or cardiac function. | MeSH: Cessation of heart beat or MYOCARDIAL CONTRACTION. If it is treated within a few minutes, heart arrest can be reversed in most cases to normal cardiac rhythm and effective circulation."
+BMGC_DS01034,BMG_DS001329,"MeSH: Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects."
+BMGC_DS01035,BMG_DS001330,MeSH: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
+BMGC_DS01036,BMG_DS001331,MONDO: A disease involving the heart and/or pericardium. | MeSH: Pathological conditions involving the HEART including its structural and functional abnormalities.
+BMGC_DS01037,BMG_DS001332,"MONDO: Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction."
+BMGC_DS01038,BMG_DS001333,"MONDO: Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales."
+BMGC_DS01039,BMG_DS001334,MONDO: A neoplasm (disease) that involves the heart. | MeSH: Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM.
+BMGC_DS01040,BMG_DS001336,MeSH: Laceration or tearing of cardiac tissues appearing after MYOCARDIAL INFARCTION.
+BMGC_DS01041,BMG_DS001337,"MONDO: A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. | MeSH: Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both."
+BMGC_DS01042,BMG_DS001338,"MONDO: Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. | MeSH: Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects."
+BMGC_DS01043,BMG_DS001339,"MONDO: The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. | MeSH: Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect."
+BMGC_DS01044,BMG_DS001340,MONDO: A disease involving the cardial valve. | MeSH: Pathological conditions involving any of the various HEART VALVES and the associated structures (PAPILLARY MUSCLES and CHORDAE TENDINEAE).
+BMGC_DS01045,BMG_DS001342,"MONDO: Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. | MeSH: A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes."
+BMGC_DS01046,BMG_DS001343,ORPHANET: A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. | MONDO: Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.
+BMGC_DS01047,BMG_DS001345,"MONDO: A parasitic infection characterized by the infestation with worms, mainly in the intestine. | MeSH: Infestation with parasitic worms of the helminth class."
+BMGC_DS01048,BMG_DS001346,MONDO: Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary. | MeSH: Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary.
+BMGC_DS01049,BMG_DS001348,"MONDO: A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. | MeSH: A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000)"
+BMGC_DS01050,BMG_DS001349,"MONDO: A hemangioma characterized by the presence of cavernous vascular spaces. | MeSH: A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous system."
+BMGC_DS01051,BMG_DS001350,"MONDO: An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. | MeSH: A tumor composed of spindle cells with a rich vascular network, which apparently arises from pericytes, cells of smooth muscle origin that lie around small vessels. Benign and malignant hemangiopericytomas exist, and the rarity of these lesions has led to considerable confusion in distinguishing between benign and malignant variants. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1364)"
+BMGC_DS01052,BMG_DS001351,"MONDO: A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. | MeSH: A rare malignant neoplasm characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and lining irregular blood-filled or lumpy spaces. (Stedman, 25th ed)"
+BMGC_DS01053,BMG_DS001352,MONDO: Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia. | MeSH: Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.
+BMGC_DS01054,BMG_DS001354,"MONDO: Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele. | MeSH: Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the TESTIS leading to testicular hematocele or scrotal hematocele."
+BMGC_DS01055,BMG_DS001355,MeSH: Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
+BMGC_DS01056,BMG_DS001357,MONDO: A disease involving the hematopoietic system. | MeSH: Disorders of the blood and blood forming tissues.
+BMGC_DS01057,BMG_DS001358,MONDO: Blood-filled uterus. | MeSH: Blood-filled UTERUS.
+BMGC_DS01058,BMG_DS001359,"MeSH: Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia)."
+BMGC_DS01059,BMG_DS001361,MeSH: Presence of blood in the urine.
+BMGC_DS01060,BMG_DS001362,"HPO: A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. [https://orcid.org/0000-0002-0736-9199] | MeSH: Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132)."
+BMGC_DS01061,BMG_DS001365,"MONDO: Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. | MeSH: Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body."
+BMGC_DS01062,BMG_DS001366,"MeSH: Hemorrhage in or through the BILIARY TRACT due to trauma, inflammation, CHOLELITHIASIS, vascular disease, or neoplasms."
+BMGC_DS01063,BMG_DS001367,"MeSH: A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)"
+BMGC_DS01064,BMG_DS001368,"MONDO: Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia). | MeSH: A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice."
+BMGC_DS01065,BMG_DS001369,"NCI: The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. | MONDO: The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. | MeSH: A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent."
+BMGC_DS01066,BMG_DS001370,"MONDO: A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis. | MeSH: One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia."
+BMGC_DS01067,BMG_DS001371,MONDO: An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. | MeSH: A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
+BMGC_DS01068,BMG_DS001372,"MONDO: A laboratory test result which indicates free hemoglobin in the urine. | MeSH: The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine."
+BMGC_DS01069,BMG_DS001374,"MeSH: A condition characterized by the recurrence of HEMOGLOBINURIA caused by intravascular HEMOLYSIS. In cases occurring upon cold exposure (paroxysmal cold hemoglobinuria), usually after infections, there is a circulating antibody which is also a cold hemolysin. In cases occurring during or after sleep (paroxysmal nocturnal hemoglobinuria), the clonal hematopoietic stem cells exhibit a global deficiency of cell membrane proteins."
+BMGC_DS01070,BMG_DS001375,"MONDO: Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. | MeSH: A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE."
+BMGC_DS01071,BMG_DS001376,NCI: An accumulation of blood within the pericardial sac. | MONDO: An accumulation of blood within the pericardial sac.
+BMGC_DS01072,BMG_DS001377,MeSH: A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.
+BMGC_DS01073,BMG_DS001378,MONDO: The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. | MeSH: The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
+BMGC_DS01074,BMG_DS001379,MONDO: Collection of air and blood in the pleural cavity. | MeSH: Collection of air and blood in the pleural cavity.
+BMGC_DS01075,BMG_DS001380,MONDO: Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). | MeSH: Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS).
+BMGC_DS01076,BMG_DS001381,"MONDO: A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. | MeSH: Hemorrhage caused by vitamin K deficiency."
+BMGC_DS01077,BMG_DS001384,"MONDO: Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure. | MeSH: A severe, often fatal disease in humans caused by the Crimean-Congo hemorrhagic fever virus (HEMORRHAGIC FEVER VIRUS, CRIMEAN-CONGO)."
+BMGC_DS01078,BMG_DS001385,"MONDO: A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death. | MeSH: A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome."
+BMGC_DS01079,BMG_DS001386,"MONDO: Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. | MeSH: An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus ORTHOHANTAVIRUS. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus."
+BMGC_DS01080,BMG_DS001387,"MONDO: Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. | MeSH: Infection with the Omsk hemorrhagic fever virus, a Flavivirus."
+BMGC_DS01081,BMG_DS001389,"MONDO: Dilated veins in the anal canal. | MeSH: Swollen veins in the lower part of the RECTUM or ANUS. Hemorrhoids can be inside the anus (internal), under the skin around the anus (external), or protruding from inside to outside of the anus. People with hemorrhoids may or may not exhibit symptoms which include bleeding, itching, and pain."
+BMGC_DS01082,BMG_DS001390,"MONDO: Accumulation of iron in internal organs. | MeSH: Conditions in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the MONONUCLEAR PHAGOCYTE SYSTEM, without demonstrable tissue damage. The name refers to the presence of stainable iron in the tissue in the form of hemosiderin."
+BMGC_DS01083,BMG_DS001392,"MONDO: A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) | MeSH: A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)"
+BMGC_DS01084,BMG_DS001393,"MONDO: Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis. | MeSH: A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)"
+BMGC_DS01085,BMG_DS001394,HPO: An obstruction in the veins of the liver caused by a blood clot (thrombosis). [https://orcid.org/0000-0002-0736-9199] | MONDO: A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon. | MeSH: A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
+BMGC_DS01086,BMG_DS001395,"MONDO: Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. | MeSH: Liver disease that is caused by injuries to the ENDOTHELIAL CELLS of the vessels and subendothelial EDEMA, but not by THROMBOSIS. Extracellular matrix, rich in FIBRONECTINS, is usually deposited around the HEPATIC VEINS leading to venous outflow occlusion and sinusoidal obstruction."
+BMGC_DS01087,BMG_DS001396,"MONDO: An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. | MeSH: INFLAMMATION of the LIVER."
+BMGC_DS01088,BMG_DS001397,"MONDO: Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. | MeSH: INFLAMMATION of the LIVER in humans caused by a member of the HEPATOVIRUS genus, HUMAN HEPATITIS A VIRUS. It can be transmitted through fecal contamination of food or water."
+BMGC_DS01089,BMG_DS001398,"MONDO: A viral infection caused by the hepatitis B virus. | MeSH: INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact."
+BMGC_DS01090,BMG_DS001399,"MONDO: Acute hepatitis resulting from ingestion of alcohol. | MeSH: INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS."
+BMGC_DS01091,BMG_DS001400,MONDO: Inflammation of the liver in non-human animals. | MeSH: INFLAMMATION of the LIVER in non-human animals.
+BMGC_DS01092,BMG_DS001401,"MeSH: INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors."
+BMGC_DS01093,BMG_DS001403,MONDO: Inflammation of the liver in animals due to viral infection. | MeSH: INFLAMMATION of the LIVER in animals due to viral infection.
+BMGC_DS01094,BMG_DS001404,MeSH: INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D).
+BMGC_DS01095,BMG_DS001405,"MONDO: A viral infection caused by the hepatitis C virus. | MeSH: INFLAMMATION of the LIVER in humans caused by HEPATITIS C VIRUS, a single-stranded RNA virus. Its incubation period is 30-90 days. Hepatitis C is transmitted primarily by contaminated blood parenterally and is often associated with transfusion and intravenous drug abuse. However, in a significant number of cases, the source of hepatitis C infection is unknown."
+BMGC_DS01096,BMG_DS001406,"MONDO: A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. | MeSH: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years."
+BMGC_DS01097,BMG_DS001407,"MONDO: Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant. | MeSH: Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention."
+BMGC_DS01098,BMG_DS001408,MONDO: Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. | MeSH: Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT.
+BMGC_DS01099,BMG_DS001409,"MONDO: A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. | MeSH: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero."
+BMGC_DS01100,BMG_DS001411,
+BMGC_DS01101,BMG_DS001412,MeSH: Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.
+BMGC_DS01102,BMG_DS001413,MeSH: An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
+BMGC_DS01103,BMG_DS001414,NCI: A protrusion of the abdominal cavity contents into the inguinal canal through the superficial inguinal ring. | MONDO: OBSOLETE. The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. | MeSH: An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
+BMGC_DS01104,BMG_DS001415,NCI: A protrusion of the abdominal cavity contents into the inguinal canal through the deep and superficial inguinal rings.
+BMGC_DS01105,BMG_DS001418,"MONDO: Physical and psychological dependence on the drug heroin. | MeSH: Strong dependence or addiction, both physiological and emotional, upon HEROIN."
+BMGC_DS01106,BMG_DS001419,"MONDO: A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. | MeSH: Acute types of coxsackievirus infections or ECHOVIRUS INFECTIONS that usually affect children during the summer and are characterized by vesiculoulcerative lesions on the MUCOUS MEMBRANES of the THROAT; DYSPHAGIA; VOMITING, and FEVER."
+BMGC_DS01107,BMG_DS001420,"MONDO: Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. | MeSH: Infection of the genitals (GENITALIA) with HERPES SIMPLEX VIRUS in either the males or the females."
+BMGC_DS01108,BMG_DS001422,"MONDO: A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region. | MeSH: Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)"
+BMGC_DS01109,BMG_DS001423,"MONDO: A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) | MeSH: A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)"
+BMGC_DS01110,BMG_DS001424,"MONDO: A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed) | MeSH: A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (KERATITIS, DENDRITIC). (Dictionary of Visual Science, 3d ed)"
+BMGC_DS01111,BMG_DS001426,"MONDO: A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. | MeSH: An acute infectious, usually self-limited, disease believed to represent activation of latent varicella-zoster virus (HERPESVIRUS 3, HUMAN) in those who have been rendered partially immune after a previous attack of CHICKENPOX. It involves the SENSORY GANGLIA and their areas of innervation and is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. (From Dorland, 27th ed)"
+BMGC_DS01112,BMG_DS001428,MONDO: Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. | MeSH: Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.
+BMGC_DS01113,BMG_DS001429,
+BMGC_DS01114,BMG_DS001430,MONDO: Virus diseases caused by the herpesviridae. | MeSH: Virus diseases caused by the HERPESVIRIDAE.
+BMGC_DS01115,BMG_DS001433,"MeSH: An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal."
+BMGC_DS01116,BMG_DS001434,"MONDO: A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma. | MeSH: A benign neoplasm derived from epithelial cells of sweat glands. (Stedman, 25th ed)"
+BMGC_DS01117,BMG_DS001435,"MONDO: A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium. | MeSH: A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and SEIZURES. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium."
+BMGC_DS01118,BMG_DS001438,"MONDO: A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. | MeSH: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions."
+BMGC_DS01119,BMG_DS001439,"MONDO: Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. | MeSH: Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON."
+BMGC_DS01120,BMG_DS001441,"MeSH: A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth."
+BMGC_DS01121,BMG_DS001442,MONDO: An disease or disorder caused by infection with Hirudinea.
+BMGC_DS01122,BMG_DS001443,MeSH: Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of MACROPHAGES and DENDRITIC CELLS.
+BMGC_DS01123,BMG_DS001444,"MONDO: A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. | MeSH: General term for the abnormal appearance of histiocytes in the blood. Based on the pathological features of the cells involved rather than on clinical findings, the histiocytic diseases are subdivided into three groups: HISTIOCYTOSIS, LANGERHANS CELL; HISTIOCYTOSIS, NON-LANGERHANS-CELL; and HISTIOCYTIC DISORDERS, MALIGNANT."
+BMGC_DS01124,BMG_DS001445,"MONDO: Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues. | MeSH: A group of disorders resulting from the abnormal proliferation of and tissue infiltration by LANGERHANS CELLS which can be detected by their characteristic Birbeck granules (X bodies), or by monoclonal antibody staining for their surface CD1 ANTIGENS. Langerhans-cell granulomatosis can involve a single organ, or can be a systemic disorder."
+BMGC_DS01125,BMG_DS001447,"MONDO: Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). | MeSH: Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; JUVENILE XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES)."
+BMGC_DS01126,BMG_DS001448,"NCI: A morphologic finding indicating the presence of histiocytic infiltrates within distended lymph node sinuses. | MONDO: A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously."
+BMGC_DS01127,BMG_DS001449,MONDO: An infection that is caused by protozoans. | MeSH: Infections with unicellular organisms formerly members of the subkingdom Protozoa.
+BMGC_DS01128,BMG_DS001450,MONDO: A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated. | MeSH: Infection resulting from exposure to the fungus HISTOPLASMA.
+BMGC_DS01129,BMG_DS001451,"MONDO: A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior. | MeSH: A personality disorder characterized by overly reactive and intensely expressed or overly dramatic behavior, proneness to exaggeration, emotional excitability, and disturbances in interpersonal relationships."
+BMGC_DS01130,BMG_DS001452,"MONDO: An infection caused by the human immunodeficiency virus. | MeSH: Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)."
+BMGC_DS01131,BMG_DS001453,"MeSH: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)"
+BMGC_DS01132,BMG_DS001454,"MONDO: Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. | MeSH: A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen."
+BMGC_DS01133,BMG_DS001456,"MONDO: An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. | MeSH: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)"
+BMGC_DS01134,BMG_DS001457,"MeSH: Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ANCYLOSTOMIASIS and NECATORIASIS are available."
+BMGC_DS01135,BMG_DS001458,"MONDO: An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess. | MeSH: Purulent infection of one of the sebaceous glands of Zeis along the eyelid margin (external) or of the meibomian gland on the conjunctival side of the eyelid (internal)."
+BMGC_DS01136,BMG_DS001460,"HPO: Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling. [https://orcid.org/0000-0002-0736-9199] | MONDO: A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis."
+BMGC_DS01137,BMG_DS001461,"MONDO: Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause. | MeSH: A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)"
+BMGC_DS01138,BMG_DS001462,MONDO: Diseases of domestic and wild horses of the species Equus caballus. | MeSH: Diseases of domestic and wild horses of the species Equus caballus.
+BMGC_DS01139,BMG_DS001463,"NCI: An autosomal dominant condition caused by mutation(s) in the SPTLC1 gene, encoding serine palmitoyltransferase long chain base subunit 1. It is characterized by distal sensory impairment with variable autonomic and motor involvement. | MONDO: Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. | MeSH: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)"
+BMGC_DS01140,BMG_DS001464,"ORPHANET: A rare hereditary sensory and autonomic neuropathy characterized by profound and universal sensory loss involving large and small fiber nerves. | MeSH: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)"
+BMGC_DS01141,BMG_DS001465,"NCI: A rare, autosomal recessive inherited disorder caused by mutations in the NTRK1 gene. It is characterized by inability to feel pain and temperature that leads to repeated unintentional self-injuries, and decreased or absent sweating that leads to hyperpyrexia and febrile seizures. | MONDO: Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever. | MeSH: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)"
+BMGC_DS01142,BMG_DS001466,"NCI: An autosomal recessive condition caused by mutation(S) in the NGF gene, encoding beta-nerve growth factor. It is characterized by loss of pain sensation, particularly in the extremities. | MONDO: Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. | MeSH: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)"
+BMGC_DS01143,BMG_DS001468,"MONDO: A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. | MeSH: Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 1."
+BMGC_DS01144,BMG_DS001470,"MONDO: Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. | MeSH: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)"
+BMGC_DS01145,BMG_DS001471,"MeSH: A respiratory distress syndrome in newborn infants, usually premature infants with insufficient PULMONARY SURFACTANTS. The disease is characterized by the formation of a HYALINE-like membrane lining the terminal respiratory airspaces (PULMONARY ALVEOLI) and subsequent collapse of the lung (PULMONARY ATELECTASIS)."
+BMGC_DS01146,BMG_DS001472,"MONDO: A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. | MeSH: Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype."
+BMGC_DS01147,BMG_DS001473,"MONDO: An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. | MeSH: A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities."
+BMGC_DS01148,BMG_DS001474,"MONDO: A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. | MeSH: A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)"
+BMGC_DS01149,BMG_DS001475,"MONDO: A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. | MeSH: A vesicular and bullous eruption having a tendency to recur in summer during childhood and commonly appearing on sun-exposed skin. The lesions are surrounded by an erythematous zone and resemble a vaccination. (From Dorland, 27th ed)"
+BMGC_DS01150,BMG_DS001476,"MONDO: A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. | MeSH: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA."
+BMGC_DS01151,BMG_DS001477,NCI: Hydrocephalus that is present at birth. | MONDO: Hydrocephalus that is present at birth.
+BMGC_DS01152,BMG_DS001478,"MONDO: A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) | MeSH: A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)"
+BMGC_DS01153,BMG_DS001479,"MONDO: Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. | MeSH: Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER."
+BMGC_DS01154,BMG_DS001480,"MONDO: A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm. | MeSH: Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical."
+BMGC_DS01155,BMG_DS001481,"MONDO: Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). | MeSH: Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS."
+BMGC_DS01156,BMG_DS001482,"MeSH: A collection of watery fluid in the pleural cavity. (Dorland, 27th ed)"
+BMGC_DS01157,BMG_DS001483,"MONDO: A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability. | MeSH: Infection with tapeworms of the genus Hymenolepis."
+BMGC_DS01158,BMG_DS001484,"MONDO: Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. | MeSH: A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA."
+BMGC_DS01159,BMG_DS001485,"MeSH: A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine."
+BMGC_DS01160,BMG_DS001486,"MONDO: An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. | MeSH: Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood."
+BMGC_DS01161,BMG_DS001487,MONDO: Abnormally high concentration of calcium in the peripheral blood. | MeSH: Abnormally high level of calcium in the blood.
+BMGC_DS01162,BMG_DS001488,"MONDO: A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed) | MeSH: A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)"
+BMGC_DS01163,BMG_DS001489,MeSH: A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population.
+BMGC_DS01164,BMG_DS001490,"MONDO: An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. | MeSH: A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins)."
+BMGC_DS01165,BMG_DS001491,"MONDO: Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. | MeSH: Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS."
+BMGC_DS01166,BMG_DS001493,"MeSH: The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous)."
+BMGC_DS01167,BMG_DS001495,MeSH: An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS.
+BMGC_DS01168,BMG_DS001496,MONDO: Abnormally high level of glucose in the blood. | MeSH: Abnormally high BLOOD GLUCOSE level.
+BMGC_DS01169,BMG_DS001497,MeSH: A serious complication of TYPE 2 DIABETES MELLITUS. It is characterized by extreme HYPERGLYCEMIA; DEHYDRATION; serum hyperosmolarity; and depressed consciousness leading to COMA in the absence of KETOSIS and ACIDOSIS.
+BMGC_DS01170,BMG_DS001498,"MONDO: Abnormally high levels of insulin in the blood. | MeSH: A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS."
+BMGC_DS01171,BMG_DS001499,MeSH: Conditions with excess LIPIDS in the blood.
+BMGC_DS01172,BMG_DS001500,"MONDO: OBSOLETE. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1. | MeSH: A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1."
+BMGC_DS01173,BMG_DS001501,"MONDO: An elevated concentration of lipoproteins. | MeSH: Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation."
+BMGC_DS01174,BMG_DS001502,"MONDO: Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease. | MeSH: An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides."
+BMGC_DS01175,BMG_DS001503,"MONDO: OBSOLETE. A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration. | MeSH: A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits."
+BMGC_DS01176,BMG_DS001504,"MONDO: A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. | MeSH: A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ."
+BMGC_DS01177,BMG_DS001505,"MeSH: Excessive amount of sodium in the blood. (Dorland, 27th ed)"
+BMGC_DS01178,BMG_DS001506,"MONDO: A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) | MeSH: A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)"
+BMGC_DS01179,BMG_DS001507,MONDO: Excessive thickening of bone. | MeSH: Increase in the mass of bone per unit volume.
+BMGC_DS01180,BMG_DS001509,HPO: An increase in the magnitude or amount of ossification of the skull. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS01181,BMG_DS001510,"MONDO: Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. | MeSH: A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)"
+BMGC_DS01182,BMG_DS001511,MONDO: This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. | MeSH: A disease of elderly men characterized by large osteophytes that bridge vertebrae and ossification of ligaments and tendon insertions.
+BMGC_DS01183,BMG_DS001513,MeSH: Excretion of an excessive amount of OXALATES in the urine.
+BMGC_DS01184,BMG_DS001514,"MONDO: A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. | MeSH: A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism."
+BMGC_DS01185,BMG_DS001515,"MONDO: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. | MeSH: A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES."
+BMGC_DS01186,BMG_DS001516,"MONDO: Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. | MeSH: Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY."
+BMGC_DS01187,BMG_DS001517,"MONDO: Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. | MeSH: Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA."
+BMGC_DS01188,BMG_DS001518,"MONDO: An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. | MeSH: An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells."
+BMGC_DS01189,BMG_DS001519,"MONDO: Abnormally high level of prolactin in the blood. | MeSH: Increased levels of PROLACTIN in the BLOOD, which may be associated with AMENORRHEA and GALACTORRHEA. Relatively common etiologies include PROLACTINOMA, medication effect, KIDNEY FAILURE, granulomatous diseases of the PITUITARY GLAND, and disorders which interfere with the hypothalamic inhibition of prolactin release. Ectopic (non-pituitary) production of prolactin may also occur. (From Joynt, Clinical Neurology, 1992, Ch36, pp77-8)"
+BMGC_DS01190,BMG_DS001520,"MONDO: An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. | MeSH: Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen."
+BMGC_DS01191,BMG_DS001521,MONDO: A disease that has its basis in the disruption of type IV hypersensitivity. | MeSH: An increased reactivity to specific antigens mediated not by antibodies but by sensitized T CELLS.
+BMGC_DS01192,BMG_DS001522,"MeSH: Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types."
+BMGC_DS01193,BMG_DS001523,"MONDO: Overactive functioning of the spleen, resulting in excessive destruction of blood cells. | MeSH: Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy."
+BMGC_DS01194,BMG_DS001524,"MONDO: Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. | MeSH: Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more."
+BMGC_DS01195,BMG_DS001525,"MONDO: Severe hypertension that is characterized by rapid onset of extremely high blood pressure and hypertension-mediated organ damage. | MeSH: A condition of markedly elevated BLOOD PRESSURE with DIASTOLIC PRESSURE usually greater than 120 mm Hg. Malignant hypertension is characterized by widespread vascular damage, PAPILLEDEMA, retinopathy, HYPERTENSIVE ENCEPHALOPATHY, and renal dysfunction."
+BMGC_DS01196,BMG_DS001526,"MONDO: Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. | MeSH: Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN."
+BMGC_DS01197,BMG_DS001527,"MONDO: Increased pressure within the pulmonary circulation due to lung or heart disorder. | MeSH: Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES."
+BMGC_DS01198,BMG_DS001528,"MONDO: Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. | MeSH: Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN."
+BMGC_DS01199,BMG_DS001529,MONDO: High blood pressure secondary to renal artery stenosis. | MeSH: Hypertension due to RENAL ARTERY OBSTRUCTION or compression.
+BMGC_DS01200,BMG_DS001530,"MONDO: Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. | MeSH: Hypersecretion of THYROID HORMONES from the THYROID GLAND. Elevated levels of thyroid hormones increase BASAL METABOLIC RATE."
+BMGC_DS01201,BMG_DS001531,MONDO: Abnormally elevated thyroxine level in the blood. | MeSH: Abnormally elevated THYROXINE level in the BLOOD.
+BMGC_DS01202,BMG_DS001532,"MONDO: Excessive hair growth anywhere on the body. | MeSH: Excessive hair growth at inappropriate locations, such as on the extremities, the head, and the back. It is caused by genetic or acquired factors, and is an androgen-independent process. This concept does not include HIRSUTISM which is an androgen-dependent excess hair growth in WOMEN and CHILDREN."
+BMGC_DS01203,BMG_DS001533,MeSH: A condition of elevated levels of TRIGLYCERIDES in the blood.
+BMGC_DS01204,BMG_DS001534,
+BMGC_DS01205,BMG_DS001535,"HPO: The presence of hypertrophy of the breast. [https://orcid.org/0000-0002-0736-9199] | MONDO: Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain."
+BMGC_DS01206,BMG_DS001536,"HPO: A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. [https://orcid.org/0000-0003-0986-4123] | MONDO: Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye. | MeSH: Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)"
+BMGC_DS01207,BMG_DS001537,MONDO: A symptom complex resulting from ingesting excessive amounts of vitamin A. | MeSH: A symptom complex resulting from ingesting excessive amounts of VITAMIN A.
+BMGC_DS01208,BMG_DS001539,NCI: A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition. | MONDO: A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition.
+BMGC_DS01209,BMG_DS001540,"MeSH: A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS."
+BMGC_DS01210,BMG_DS001541,"MONDO: A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. | MeSH: Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption."
+BMGC_DS01211,BMG_DS001542,"MeSH: Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)"
+BMGC_DS01212,BMG_DS001543,HPO: An abnormally decreased calcium concentration in the urine. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS01213,BMG_DS001544,"MONDO: A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis. | MeSH: Preoccupation with the fear of having, or the idea that one has, a serious disease based on the person's misinterpretation of bodily symptoms. (APA, DSM-IV)"
+BMGC_DS01214,BMG_DS001545,"MONDO: Infestation with larvae of the genus Hypoderma, the warble fly. | MeSH: Infestation with larvae of the genus Hypoderma, the warble fly."
+BMGC_DS01215,BMG_DS001546,"HPO: The absence of five or less teeth from the normal series by a failure to develop. [https://orcid.org/0000-0002-9338-3017, PMID:31468724] | MONDO: A rare developmental dental anomaly in humans characterized by the absence of six or more teeth."
+BMGC_DS01216,BMG_DS001547,"MeSH: Disturbances of MILK secretion in either SEX, not necessarily related to PREGNANCY."
+BMGC_DS01217,BMG_DS001548,MONDO: Abnormally low level of glucose in the blood. | MeSH: A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.
+BMGC_DS01218,BMG_DS001549,HPO: Coma induced by low blood sugar. []
+BMGC_DS01219,BMG_DS001550,"MONDO: A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. | MeSH: Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism)."
+BMGC_DS01220,BMG_DS001551,"MONDO: OBSOLETE. Reduced sweating. Causes include burns, dehydration, radiation, and leprosy. | MeSH: Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions."
+BMGC_DS01221,BMG_DS001552,"MONDO: Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins)."
+BMGC_DS01222,BMG_DS001553,NCI: Decreased menstrual blood flow. | MeSH: Variations of MENSTRUATION which may be indicative of disease.
+BMGC_DS01223,BMG_DS001554,"MeSH: Deficiency of sodium in the blood; salt depletion. (Dorland, 27th ed)"
+BMGC_DS01224,BMG_DS001555,"MONDO: Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. | MeSH: A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone."
+BMGC_DS01225,BMG_DS001557,"MONDO: Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). | MeSH: A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)"
+BMGC_DS01226,BMG_DS001559,"MONDO: A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. | MeSH: Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions."
+BMGC_DS01227,BMG_DS001560,"MeSH: A condition in which total serum protein level is below the normal range. Hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, EDEMA, or PROTEINURIA."
+BMGC_DS01228,BMG_DS001561,NCI: An accumulation of pus in the anterior chamber of the eye. | MONDO: An accumulation of pus in the anterior chamber of the eye.
+BMGC_DS01229,BMG_DS001562,MONDO: Blood pressure that is abnormally low. | MeSH: Abnormally low BLOOD PRESSURE that can result in inadequate blood flow to the brain and other vital organs. Common symptom is DIZZINESS but greater negative impacts on the body occur when there is prolonged depravation of oxygen and nutrients.
+BMGC_DS01230,BMG_DS001563,"MONDO: Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up. | MeSH: A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE."
+BMGC_DS01231,BMG_DS001564,"MONDO: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders. | MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS01232,BMG_DS001565,"MONDO: A primary or metastatic neoplasm that affects the hypothalamus. | MeSH: Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)"
+BMGC_DS01233,BMG_DS001566,"MONDO: Abnormally low levels of thyroid hormone. | MeSH: A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction."
+BMGC_DS01234,BMG_DS001567,"MONDO: A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. | MeSH: Presence of less than the normal amount of hair. (Dorland, 27th ed)"
+BMGC_DS01235,BMG_DS001569,"MeSH: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)"
+BMGC_DS01236,BMG_DS001570,"MONDO: Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. | MeSH: Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment."
+BMGC_DS01237,BMG_DS001571,"MONDO: Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. | MeSH: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome."
+BMGC_DS01238,BMG_DS001572,
+BMGC_DS01239,BMG_DS001573,"MeSH: Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE."
+BMGC_DS01240,BMG_DS001574,"ORPHANET: Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients. | MONDO: A respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients."
+BMGC_DS01241,BMG_DS001576,"MONDO: A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma. | MeSH: Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)."
+BMGC_DS01242,BMG_DS001577,MeSH: Inflammation of any segment of the ILEUM and the ILEOCECAL VALVE.
+BMGC_DS01243,BMG_DS001578,"MONDO: Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. | MeSH: Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides SERUM SICKNESS and the ARTHUS REACTION, evidence supports a pathogenic role for immune complexes in many other IMMUNE SYSTEM DISEASES including GLOMERULONEPHRITIS, systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC) and POLYARTERITIS NODOSA."
+BMGC_DS01244,BMG_DS001579,"MONDO: A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive. | MeSH: A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly."
+BMGC_DS01245,BMG_DS001580,"MONDO: Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. | MeSH: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."
+BMGC_DS01246,BMG_DS001581,"MONDO: A disorder resulting from an abnormality in the immune system. | MeSH: Disorders caused by abnormal or absent immunologic mechanisms, whether humoral, cell-mediated, or both."
+BMGC_DS01247,BMG_DS001582,MONDO: Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. | MeSH: Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.
+BMGC_DS01248,BMG_DS001584,"MONDO: A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. | MeSH: A common superficial bacterial infection caused by STAPHYLOCOCCUS AUREUS or group A beta-hemolytic streptococci. Characteristics include pustular lesions that rupture and discharge a thin, amber-colored fluid that dries and forms a crust. This condition is commonly located on the face, especially about the mouth and nose."
+BMGC_DS01249,BMG_DS001586,MONDO: A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others.
+BMGC_DS01250,BMG_DS001587,"MONDO: A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. | MeSH: A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced."
+BMGC_DS01251,BMG_DS001589,"MONDO: Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). | MeSH: A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages."
+BMGC_DS01252,BMG_DS001590,MONDO: A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules.
+BMGC_DS01253,BMG_DS001591,
+BMGC_DS01254,BMG_DS001592,"MeSH: Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in infants ages 1 month to 24 months."
+BMGC_DS01255,BMG_DS001593,"MeSH: Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts."
+BMGC_DS01256,BMG_DS001594,MeSH: Diseases that occur in PREMATURE INFANTS.
+BMGC_DS01257,BMG_DS001595,
+BMGC_DS01258,BMG_DS001597,
+BMGC_DS01259,BMG_DS001598,"MONDO: A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus. | MeSH: A common, acute infection usually caused by the Epstein-Barr virus (HERPESVIRUS 4, HUMAN). There is an increase in mononuclear white blood cells and other atypical lymphocytes, generalized lymphadenopathy, splenomegaly, and occasionally hepatomegaly with hepatitis."
+BMGC_DS01260,BMG_DS001599,"NCI: Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain."
+BMGC_DS01261,BMG_DS001600,"MONDO: Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. | MeSH: A reduced or absent capacity to reproduce."
+BMGC_DS01262,BMG_DS001601,
+BMGC_DS01263,BMG_DS001602,MONDO: Diminished or absent ability of a female to achieve conception. | MeSH: Diminished or absent ability of a female to achieve conception.
+BMGC_DS01264,BMG_DS001603,MONDO: The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. | MeSH: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
+BMGC_DS01265,BMG_DS001604,"MONDO: A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. | MeSH: Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS."
+BMGC_DS01266,BMG_DS001605,
+BMGC_DS01267,BMG_DS001606,"MONDO: An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. | MeSH: An acute viral infection in humans involving the respiratory tract. It is marked by inflammation of the NASAL MUCOSA; the PHARYNX; and conjunctiva, and by headache and severe, often generalized, myalgia."
+BMGC_DS01268,BMG_DS001608,"MONDO: A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli. | MeSH: Intracranial tumors originating in the region of the brain inferior to the TENTORIUM CEREBELLI, which contains the cerebellum, FOURTH VENTRICLE; CEREBELLOPONTINE ANGLE; BRAIN STEM, and related structures. Primary tumors of this region are more frequent in children, and may present with ATAXIA; CRANIAL NERVE DISEASES; vomiting; HEADACHE; HYDROCEPHALUS; or other signs of neurologic dysfunction. Relatively frequent histologic subtypes include TERATOMA; MEDULLOBLASTOMA; GLIOBLASTOMA; ASTROCYTOMA; EPENDYMOMA; CRANIOPHARYNGIOMA; and choroid plexus papilloma (PAPILLOMA, CHOROID PLEXUS)."
+BMGC_DS01269,BMG_DS001609,MeSH: Disorders caused by external forces rather than by physiologic dysfunction or by pathogens.
+BMGC_DS01270,BMG_DS001611,MeSH: Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.
+BMGC_DS01271,BMG_DS001613,MONDO: An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. | MeSH: A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.
+BMGC_DS01272,BMG_DS001614,"MONDO: A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate. | MeSH: A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE."
+BMGC_DS01273,BMG_DS001615,"NCI: A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use. | MONDO: A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use."
+BMGC_DS01274,BMG_DS001617,MeSH: An INTERVERTEBRAL DISC in which the NUCLEUS PULPOSUS has protruded through surrounding ANNULUS FIBROSUS. This occurs most frequently in the lower lumbar region.
+BMGC_DS01275,BMG_DS001619,"MONDO: A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine. | MeSH: Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)"
+BMGC_DS01276,BMG_DS001620,"NCI: A classification of inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age."
+BMGC_DS01277,BMG_DS001621,MONDO: A non-neoplastic or neoplastic disorder that affects the small or large intestine. | MeSH: Pathological processes in any segment of the INTESTINE from DUODENUM to RECTUM.
+BMGC_DS01278,BMG_DS001622,"MONDO: Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. | MeSH: Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS."
+BMGC_DS01279,BMG_DS001624,MONDO: A benign or malignant neoplasm involving the small or large intestine. | MeSH: Tumors or cancer of the INTESTINES.
+BMGC_DS01280,BMG_DS001625,"MONDO: Blockage of the normal flow of the intestinal contents within the bowel. | MeSH: Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL."
+BMGC_DS01281,BMG_DS001626,MONDO: A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. | MeSH: Opening or penetration through the wall of the INTESTINES.
+BMGC_DS01282,BMG_DS001627,"MONDO: Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. | MeSH: Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base."
+BMGC_DS01283,BMG_DS001628,"MONDO: Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate. | MeSH: A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM."
+BMGC_DS01284,BMG_DS001630,NCI: An abscess that is located in the intracranial space. | MONDO: An abscess that is located in the intracranial space.
+BMGC_DS01285,BMG_DS001632,"MONDO: Telescoping or invagination of a part of the intestine into an adjacent segment. | MeSH: A form of intestinal obstruction caused by the PROLAPSE of a part of the intestine into the adjoining intestinal lumen. There are four types: colic, involving segments of the LARGE INTESTINE; enteric, involving only the SMALL INTESTINE; ileocecal, in which the ILEOCECAL VALVE prolapses into the CECUM, drawing the ILEUM along with it; and ileocolic, in which the ileum prolapses through the ileocecal valve into the COLON."
+BMGC_DS01286,BMG_DS001637,"MONDO: An inflammation of the iris and the ciliary body | MeSH: Acute or chronic inflammation of the iris and ciliary body characterized by exudates into the anterior chamber, discoloration of the iris, and constricted, sluggish pupil. Symptoms include radiating pain, photophobia, lacrimation, and interference with vision."
+BMGC_DS01287,BMG_DS001638,"MONDO: A disease involving the iris. | MeSH: Diseases, dysfunctions, or disorders of or located in the iris."
+BMGC_DS01288,BMG_DS001639,MONDO: A neoplasm (disease) that involves the iris. | MeSH: Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi.
+BMGC_DS01289,BMG_DS001640,"MONDO: Inflammation of the iris. | MeSH: Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris."
+BMGC_DS01290,BMG_DS001641,"MONDO: Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two). | MeSH: A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION."
+BMGC_DS01291,BMG_DS001642,"MONDO: Lack of blood supply to an area of the body, resulting in impairment of tissue oxygenation. | MeSH: A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION."
+BMGC_DS01292,BMG_DS001644,"MeSH: A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM."
+BMGC_DS01293,BMG_DS001645,MONDO: Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.
+BMGC_DS01294,BMG_DS001646,"SNOMEDCT_US: An epileptic seizure originating within networks limited to one hemisphere and involving motor activity at the onset with spread of clonic movements through contiguous body parts unilaterally, and retained awareness (defined as knowledge of self and environment) throughout the entire duration of the seizure. | MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS01295,BMG_DS001647,"MONDO: A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease. | MeSH: A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))"
+BMGC_DS01296,BMG_DS001648,"MONDO: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. | MeSH: This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. | MeSH: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure."
+BMGC_DS01297,BMG_DS001649,"MONDO: Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells. | MeSH: A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract."
+BMGC_DS01298,BMG_DS001650,"MeSH: Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) occurring in the first week of life, but some can be a sign of pathological disorders, particularly LIVER DISEASES."
+BMGC_DS01299,BMG_DS001651,"MONDO: A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system. | MeSH: Jaundice, the condition with yellowish staining of the skin and mucous membranes, that is due to impaired BILE flow in the BILIARY TRACT, such as INTRAHEPATIC CHOLESTASIS, or EXTRAHEPATIC CHOLESTASIS."
+BMGC_DS01300,BMG_DS001652,MeSH: Diseases involving the JAW.
+BMGC_DS01301,BMG_DS001653,"MONDO: A neoplasm (disease) that involves the jaw skeleton. | MeSH: Cancers or tumors of the MAXILLA or MANDIBLE unspecified. For neoplasms of the maxilla, MAXILLARY NEOPLASMS is available and of the mandible, MANDIBULAR NEOPLASMS is available."
+BMGC_DS01302,BMG_DS001656,MeSH: Pathological development in the JEJUNUM region of the SMALL INTESTINE.
+BMGC_DS01303,BMG_DS001657,"MONDO: A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma. | MeSH: Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)."
+BMGC_DS01304,BMG_DS001658,MONDO: An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. | MeSH: A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
+BMGC_DS01305,BMG_DS001659,MONDO: Any disorder of the joints. | MeSH: Diseases involving the JOINTS.
+BMGC_DS01306,BMG_DS001661,
+BMGC_DS01307,BMG_DS001663,"MeSH: An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts."
+BMGC_DS01308,BMG_DS001664,"MONDO: Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block."
+BMGC_DS01309,BMG_DS001665,"MONDO: An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. | MeSH: A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues."
+BMGC_DS01310,BMG_DS001666,MONDO: A corneal disease that is characterized by inflammation of the cornea. | MeSH: Inflammation of the cornea.
+BMGC_DS01311,BMG_DS001667,"MeSH: A form of herpetic keratitis characterized by the formation of small vesicles which break down and coalesce to form recurring dendritic ulcers, characteristically irregular, linear, branching, and ending in knoblike extremities. (Dictionary of Visual Science, 3d ed)"
+BMGC_DS01312,BMG_DS001668,"MONDO: A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin. | MeSH: A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption."
+BMGC_DS01313,BMG_DS001669,MONDO: Inflammation of both the cornea and the conjunctiva. | MeSH: Simultaneous inflammation of the cornea and conjunctiva.
+BMGC_DS01314,BMG_DS001670,"MONDO: Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. | MeSH: Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME."
+BMGC_DS01315,BMG_DS001672,"ORPHANET: A rare disorder of the anterior segment of the eye, characterized by a severe recurrent allergic reaction affecting the cornea and the conjunctiva. It presents with red eyes, ocular itching, photophobia, foreign body sensation, mucous discharge, blepharospasm, and blurring of vision. The symptoms are typically bilateral but may be asymmetric. Characteristic signs include conjunctival injection, giant papillae mostly on the upper tarsal conjunctiva (cobblestone appearance), limbal gelatinous infiltrates (Horner-Trantas dots), and variable corneal signs. The condition is more prevalent in hot climates and most commonly affects young boys. | MONDO: Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition. | MeSH: Conjunctivitis due to hypersensitivity to various allergens."
+BMGC_DS01316,BMG_DS001673,"MONDO: A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. | MeSH: A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus."
+BMGC_DS01317,BMG_DS001675,"NCI: Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications. | MONDO: Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications."
+BMGC_DS01318,BMG_DS001676,"MONDO: Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality. | MeSH: An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present."
+BMGC_DS01319,BMG_DS001677,MONDO: A skin disorder consisting of hypertrophy of the stratum corneum of the skin. | MeSH: Any horny growth such as a wart or callus.
+BMGC_DS01320,BMG_DS001678,MeSH: Any horny growth such as a wart or callus.
+BMGC_DS01321,BMG_DS001679,"MONDO: Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies. | MeSH: An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES."
+BMGC_DS01322,BMG_DS001680,"HPO: Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. [https://orcid.org/0000-0002-0736-9199] | MONDO: A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis."
+BMGC_DS01323,BMG_DS001681,"MONDO: A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants. | MeSH: White or pink lesions on the arms, hands, face, or scalp that arise from sun-induced DNA DAMAGE to KERATINOCYTES in exposed areas. They are considered precursor lesions to superficial SQUAMOUS CELL CARCINOMA."
+BMGC_DS01324,BMG_DS001682,"MONDO: A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. | MeSH: Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade."
+BMGC_DS01325,BMG_DS001683,"MeSH: A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)"
+BMGC_DS01326,BMG_DS001685,"MONDO: Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. | MeSH: Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity."
+BMGC_DS01327,BMG_DS001686,MONDO: A disease involving the kidney. | MeSH: Pathological processes of the KIDNEY or its component tissues.
+BMGC_DS01328,BMG_DS001687,MeSH: Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions.
+BMGC_DS01329,BMG_DS001688,"MONDO: Impairment of the renal function due to chronic kidney damage. | MeSH: The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION."
+BMGC_DS01330,BMG_DS001689,"MONDO: A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. | MeSH: Tumors or cancers of the KIDNEY."
+BMGC_DS01331,BMG_DS001690,MONDO: A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. | MeSH: A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE.
+BMGC_DS01332,BMG_DS001691,"MONDO: Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. | MeSH: Acute kidney failure resulting from destruction of EPITHELIAL CELLS of the KIDNEY TUBULES. It is commonly attributed to exposure to toxic agents or renal ISCHEMIA following severe TRAUMA."
+BMGC_DS01333,BMG_DS001692,
+BMGC_DS01334,BMG_DS001693,"MONDO: A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. | MeSH: Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance."
+BMGC_DS01335,BMG_DS001694,"MONDO: Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics."
+BMGC_DS01336,BMG_DS001695,"MONDO: Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function. | MeSH: Death of a bone or part of a bone, either atraumatic or posttraumatic."
+BMGC_DS01337,BMG_DS001696,"MONDO: A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. | MeSH: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)"
+BMGC_DS01338,BMG_DS001697,MONDO: Infections with bacteria of the genus KLEBSIELLA. | MeSH: Infections with bacteria of the genus KLEBSIELLA.
+BMGC_DS01339,BMG_DS001698,NCI: A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft. | MONDO: A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft.
+BMGC_DS01340,BMG_DS001699,"MONDO: A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. | MeSH: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)."
+BMGC_DS01341,BMG_DS001700,"MONDO: A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy. | MeSH: A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass."
+BMGC_DS01342,BMG_DS001701,"MONDO: A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. | MeSH: A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator."
+BMGC_DS01343,BMG_DS001702,"MONDO: A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene. | MeSH: An atrophic and sclerotic condition of the head of the PENIS, glans penis. Sometimes it leads to stenosis and occasionally obliteration of the external meatal orifice."
+BMGC_DS01344,BMG_DS001703,"MONDO: A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia. | MeSH: Atrophy and shriveling of the SKIN of the VULVA that is characterized by the whitish LICHEN SCLEROSUS appearance, inflammation, and PRURITUS."
+BMGC_DS01345,BMG_DS001704,"MONDO: Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast. | MeSH: Mucocellular carcinoma of the ovary, usually metastatic from the gastrointestinal tract, characterized by areas of mucoid degeneration and the presence of signet-ring-like cells. It accounts for 30%-40% of metastatic cancers to the ovaries and possibly 1%-2% of all malignant ovarian tumors. The lesions may not be discovered until the primary disease is advanced, and most patients die of their disease within a year. In some cases, a primary tumor is not found. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1685)"
+BMGC_DS01346,BMG_DS001705,"MONDO: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. | MeSH: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure."
+BMGC_DS01347,BMG_DS001706,"MONDO: A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) | MeSH: A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)"
+BMGC_DS01348,BMG_DS001707,"MONDO: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed) | MeSH: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning displaced child. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)"
+BMGC_DS01349,BMG_DS001708,"MONDO: Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations. | MeSH: Tick-borne flavivirus infection occurring in the Kyasanur Forest in India."
+BMGC_DS01350,BMG_DS001710,MeSH: Pathological processes of the inner ear (LABYRINTH) which contains the essential apparatus of hearing (COCHLEA) and balance (SEMICIRCULAR CANALS).
+BMGC_DS01351,BMG_DS001711,"MONDO: Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. | MeSH: Inflammation of the inner ear (LABYRINTH)."
+BMGC_DS01352,BMG_DS001712,MONDO: A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. | MeSH: Diseases of the LACRIMAL APPARATUS.
+BMGC_DS01353,BMG_DS001713,"MeSH: Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250)"
+BMGC_DS01354,BMG_DS001714,"MeSH: Disturbances of MILK secretion in either SEX, not necessarily related to PREGNANCY."
+BMGC_DS01355,BMG_DS001715,"MeSH: The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROINTESTINAL TRACT, and the inability to break down LACTOSE in milk for ABSORPTION. Bacterial fermentation of the unabsorbed lactose leads to symptoms that range from a mild indigestion (DYSPEPSIA) to severe DIARRHEA. Lactose intolerance may be an inborn error or acquired."
+BMGC_DS01356,BMG_DS001717,"MONDO: Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). | MeSH: An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)"
+BMGC_DS01357,BMG_DS001719,"MONDO: Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. | MeSH: Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE)."
+BMGC_DS01358,BMG_DS001721,"MONDO: A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. | MeSH: Conditions characterized by deficiencies of comprehension or expression of written and spoken forms of language. These include acquired and developmental disorders."
+BMGC_DS01359,BMG_DS001723,"MONDO: A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati. | MeSH: A condition produced in man by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati."
+BMGC_DS01360,BMG_DS001724,"MONDO: A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. | MeSH: Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing."
+BMGC_DS01361,BMG_DS001725,MONDO: A benign or malignant neoplasm involving the larynx. | MeSH: Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.
+BMGC_DS01362,BMG_DS001726,"MeSH: Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing."
+BMGC_DS01363,BMG_DS001727,MeSH: A disorder in which the adductor muscles of the VOCAL CORDS exhibit increased activity leading to laryngeal spasm. Laryngismus causes closure of the VOCAL FOLDS and airflow obstruction during inspiration.
+BMGC_DS01364,BMG_DS001728,"MONDO: An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. | MeSH: Inflammation of the LARYNGEAL MUCOSA, including the VOCAL CORDS. Laryngitis is characterized by irritation, edema, and reduced pliability of the mucosa leading to VOICE DISORDERS such as APHONIA and HOARSENESS."
+BMGC_DS01365,BMG_DS001730,MONDO: Narrowing of the laryngeal airway. | MeSH: Developmental or acquired stricture or narrowing of the LARYNX. Symptoms of respiratory difficulty depend on the degree of laryngeal narrowing.
+BMGC_DS01366,BMG_DS001733,"MONDO: A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. | MeSH: An acute febrile human disease caused by the LASSA VIRUS."
+BMGC_DS01367,BMG_DS001734,"MONDO: A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. | MeSH: An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)"
+BMGC_DS01368,BMG_DS001736,
+BMGC_DS01369,BMG_DS001737,"MONDO: A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme."
+BMGC_DS01370,BMG_DS001738,"HPO: A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] | MeSH: A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles."
+BMGC_DS01371,BMG_DS001739,"NCI: Failure of adequate output by the left ventricle despite an increase in distending pressure and in end-diastolic volume, with dyspnea, orthopnea, and other signs and symptoms of pulmonary congestion and edema. | MeSH: A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION."
+BMGC_DS01372,BMG_DS001741,"MONDO: A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed) | MeSH: A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)"
+BMGC_DS01373,BMG_DS001742,"MONDO: Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. | MeSH: Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (VARICOSE ULCER), 5% to arterial disease, and the remaining 5% to other causes."
+BMGC_DS01374,BMG_DS001743,
+BMGC_DS01375,BMG_DS001744,MONDO: Any disease caused by Legionella bacteria. | MeSH: Infections with bacteria of the genus LEGIONELLA.
+BMGC_DS01376,BMG_DS001745,"MONDO: A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. | MeSH: An acute, sometimes fatal, pneumonia-like bacterial infection characterized by high fever, malaise, muscle aches, respiratory disorders and headache. It is named for an outbreak at the 1976 Philadelphia convention of the American Legion."
+BMGC_DS01377,BMG_DS001746,"MeSH: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850)."
+BMGC_DS01378,BMG_DS001747,"MONDO: A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MeSH: A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues."
+BMGC_DS01379,BMG_DS001748,"MONDO: An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. | MeSH: A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)"
+BMGC_DS01380,BMG_DS001749,"MONDO: Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration). | MeSH: A disease caused by any of a number of species of protozoa in the genus LEISHMANIA. There are four major clinical types of this infection: cutaneous (Old and New World) (LEISHMANIASIS, CUTANEOUS), diffuse cutaneous (LEISHMANIASIS, DIFFUSE CUTANEOUS), mucocutaneous (LEISHMANIASIS, MUCOCUTANEOUS), and visceral (LEISHMANIASIS, VISCERAL)."
+BMGC_DS01381,BMG_DS001750,"MONDO: Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas. | MeSH: An endemic disease that is characterized by the development of single or multiple localized lesions on exposed areas of skin that typically ulcerate. The disease has been divided into Old and New World forms. Old World leishmaniasis is separated into three distinct types according to epidemiology and clinical manifestations and is caused by species of the L. tropica and L. aethiopica complexes as well as by species of the L. major genus. New World leishmaniasis, also called American leishmaniasis, occurs in South and Central America and is caused by species of the L. mexicana or L. braziliensis complexes."
+BMGC_DS01382,BMG_DS001755,"MONDO: A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi. | MeSH: A chronic disease caused by LEISHMANIA DONOVANI and transmitted by the bite of several sandflies of the genera Phlebotomus and Lutzomyia. It is commonly characterized by fever, chills, vomiting, anemia, hepatosplenomegaly, leukopenia, hypergammaglobulinemia, emaciation, and an earth-gray color of the skin. The disease is classified into three main types according to geographic distribution: Indian, Mediterranean (or infantile), and African."
+BMGC_DS01383,BMG_DS001756,MeSH: Diseases involving the CRYSTALLINE LENS.
+BMGC_DS01384,BMG_DS001757,"MeSH: Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS."
+BMGC_DS01385,BMG_DS001758,"MONDO: A partial dislocation of the lens of the eye. | MeSH: Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS."
+BMGC_DS01386,BMG_DS001759,"MONDO: A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy. | MeSH: Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome)."
+BMGC_DS01387,BMG_DS001760,"MONDO: Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system. | MeSH: A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid."
+BMGC_DS01388,BMG_DS001761,MONDO: A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. | MeSH: A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.
+BMGC_DS01389,BMG_DS001762,"MONDO: A chronic communicable infection which is a principal or polar form of leprosy. This disorder is caused by mycobacterium leprae and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. | MeSH: A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage."
+BMGC_DS01390,BMG_DS001763,"MONDO: A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. | MeSH: A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others."
+BMGC_DS01391,BMG_DS001765,"MONDO: A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure. | MeSH: Infections with bacteria of the genus LEPTOSPIRA."
+BMGC_DS01392,BMG_DS001768,"MONDO: Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. | MeSH: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)"
+BMGC_DS01393,BMG_DS001769,"NCI: A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. | MONDO: A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. | MeSH: A group of disorders resulting from the abnormal proliferation of and tissue infiltration by LANGERHANS CELLS which can be detected by their characteristic Birbeck granules (X bodies), or by monoclonal antibody staining for their surface CD1 ANTIGENS. Langerhans-cell granulomatosis can involve a single organ, or can be a systemic disorder."
+BMGC_DS01394,BMG_DS001770,"MONDO: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. | MeSH: A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)"
+BMGC_DS01395,BMG_DS001771,"MONDO: B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades."
+BMGC_DS01396,BMG_DS001772,MONDO: A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. | MeSH: A rare acute myeloid leukemia in which the primary differentiation is to BASOPHILS. It is characterized by an extreme increase of immature basophilic granulated cells in the bone marrow and blood. Mature basophils are usually sparse.
+BMGC_DS01397,BMG_DS001773,"MONDO: An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001) | MeSH: A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood."
+BMGC_DS01398,BMG_DS001774,"MONDO: Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections. | MeSH: A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of hairy or flagellated cells in the blood and bone marrow."
+BMGC_DS01399,BMG_DS001775,MONDO: A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.
+BMGC_DS01400,BMG_DS001776,"MONDO: Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia."
+BMGC_DS01401,BMG_DS001777,"MONDO: An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. | MeSH: When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term."
+BMGC_DS01402,BMG_DS001778,"MONDO: Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells. | MeSH: A form of systemic mastocytosis (MASTOCYTOSIS, SYSTEMIC) characterized by the presence of large numbers of tissue MAST CELLS in the peripheral blood without skin lesions. It is a high-grade LEUKEMIA disease with bone marrow smear of >20% MAST CELLS, multi-organ failure and a short survival."
+BMGC_DS01403,BMG_DS001779,"MONDO: Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis. | MeSH: An acute myeloid leukemia in which 20-30% of the bone marrow or peripheral blood cells are of megakaryocyte lineage. MYELOFIBROSIS or increased bone marrow RETICULIN is common."
+BMGC_DS01404,BMG_DS001780,"MONDO: An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) | MeSH: An acute leukemia exhibiting cell features characteristic of both the myeloid and lymphoid lineages and probably arising from MULTIPOTENT STEM CELLS."
+BMGC_DS01405,BMG_DS001781,"MONDO: Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11). | MeSH: An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES."
+BMGC_DS01406,BMG_DS001782,MONDO: Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites.
+BMGC_DS01407,BMG_DS001783,"MONDO: Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections."
+BMGC_DS01408,BMG_DS001784,"MONDO: A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. | MeSH: Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites."
+BMGC_DS01409,BMG_DS001786,
+BMGC_DS01410,BMG_DS001788,"MONDO: An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) | MeSH: A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin."
+BMGC_DS01411,BMG_DS001789,"MONDO: A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. | MeSH: A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood."
+BMGC_DS01412,BMG_DS001790,"MONDO: A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene. | MeSH: A rare myeloproliferative disorder that is characterized by a sustained, mature neutrophilic leukocytosis. No monocytosis, EOSINOPHILIA, or basophilia is present, nor is there a PHILADELPHIA CHROMOSOME or bcr-abl fusion gene (GENES, ABL)."
+BMGC_DS01413,BMG_DS001791,
+BMGC_DS01414,BMG_DS001792,MONDO: An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.
+BMGC_DS01415,BMG_DS001793,"MONDO: A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. | MeSH: A chronic leukemia characterized by a large number of circulating prolymphocytes. It can arise spontaneously or as a consequence of transformation of CHRONIC LYMPHOCYTIC LEUKEMIA."
+BMGC_DS01416,BMG_DS001794,"MONDO: An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue. | MeSH: An acute myeloid leukemia in which abnormal PROMYELOCYTES predominate. It is frequently associated with DISSEMINATED INTRAVASCULAR COAGULATION."
+BMGC_DS01417,BMG_DS001795,"MONDO: A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood. | MeSH: A malignant disease of the T-LYMPHOCYTES in the bone marrow, thymus, and/or blood."
+BMGC_DS01418,BMG_DS001796,"MONDO: A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa."
+BMGC_DS01419,BMG_DS001797,"MONDO: A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. | MeSH: A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)"
+BMGC_DS01420,BMG_DS001798,MONDO: A disease involving leukocytes. | MeSH: Disordered formation of various types of leukocytes or an abnormal accumulation or deficiency of these cells.
+BMGC_DS01421,BMG_DS001799,MeSH: A transient increase in the number of leukocytes in a body fluid.
+BMGC_DS01422,BMG_DS001800,"MONDO: Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
+BMGC_DS01423,BMG_DS001801,"MONDO: A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. | MeSH: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses."
+BMGC_DS01424,BMG_DS001802,"MONDO: A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. | MeSH: An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms."
+BMGC_DS01425,BMG_DS001803,"MONDO: A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed) | MeSH: A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)"
+BMGC_DS01426,BMG_DS001804,"MONDO: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS). | MeSH: An opportunistic viral infection of the central nervous system associated with conditions that impair cell-mediated immunity (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME and other IMMUNOLOGIC DEFICIENCY SYNDROMES; HEMATOLOGIC NEOPLASMS; IMMUNOSUPPRESSION; and COLLAGEN DISEASES). The causative organism is JC Polyomavirus (JC VIRUS) which primarily affects oligodendrocytes, resulting in multiple areas of demyelination. Clinical manifestations include DEMENTIA; ATAXIA; visual disturbances; and other focal neurologic deficits, generally progressing to a vegetative state within 6 months. (From Joynt, Clinical Neurology, 1996, Ch26, pp36-7)"
+BMGC_DS01427,BMG_DS001806,"MONDO: Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles. | MeSH: Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)"
+BMGC_DS01428,BMG_DS001807,MONDO: A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. | MeSH: A decrease in the number of LEUKOCYTES in a blood sample below the normal range (LEUKOCYTE COUNT less than 4000).
+BMGC_DS01429,BMG_DS001808,"MONDO: A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. | MeSH: A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES."
+BMGC_DS01430,BMG_DS001809,"MONDO: A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. | MeSH: A white patch seen on the oral mucosa. It is considered a premalignant condition and is often tobacco-induced. When evidence of Epstein-Barr virus is present, the condition is called hairy leukoplakia (LEUKOPLAKIA, HAIRY)."
+BMGC_DS01431,BMG_DS001810,"MONDO: Whitish or yellowish mucosal vaginal discharge. | MeSH: A clear or white discharge from the VAGINA, consisting mainly of MUCUS."
+BMGC_DS01432,BMG_DS001813,"MONDO: A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course. | MeSH: Gonadal interstitial or stromal cell neoplasm composed of only LEYDIG CELLS. These tumors may produce one or more of the steroid hormones such as ANDROGENS; ESTROGENS; and CORTICOSTEROIDS. Clinical symptoms include testicular swelling, GYNECOMASTIA, sexual precocity in children, or virilization (VIRILISM) in females."
+BMGC_DS01433,BMG_DS001814,MONDO: A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin.
+BMGC_DS01434,BMG_DS001815,"ORPHANET: A rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus. | MONDO: Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus."
+BMGC_DS01435,BMG_DS001816,"MONDO: A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus. | MeSH: An inflammatory, pruritic disease of the skin and mucous membranes, which can be either generalized or localized. It is characterized by distinctive purplish, flat-topped papules having a predilection for the trunk and flexor surfaces. The lesions may be discrete or coalesce to form plaques. Histologically, there is a saw-tooth pattern of epidermal hyperplasia and vacuolar alteration of the basal layer of the epidermis along with an intense upper dermal inflammatory infiltrate composed predominantly of T-cells. Etiology is unknown."
+BMGC_DS01436,BMG_DS001824,"MeSH: A condition where the stomach wall becomes thickened, rubbery and loses its ability to distend. The stomach assumes a leather bottle shape. It is most often seen in adenocarcinoma of the stomach. The term is often used synonymously with diffuse adenocarcinoma of the stomach."
+BMGC_DS01437,BMG_DS001825,MONDO: A disease involving the lip. | MeSH: Diseases involving the LIP.
+BMGC_DS01438,BMG_DS001827,MeSH: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.
+BMGC_DS01439,BMG_DS001828,"MONDO: The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). | MeSH: A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders."
+BMGC_DS01440,BMG_DS001829,"MONDO: A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. | MeSH: A collection of heterogenous conditions resulting from defective LIPID METABOLISM and characterized by ADIPOSE TISSUE atrophy. Often there is redistribution of body fat resulting in peripheral fat wasting and central adiposity. They include generalized, localized, congenital, and acquired lipodystrophy."
+BMGC_DS01441,BMG_DS001830,"MONDO: A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. | MeSH: A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS."
+BMGC_DS01442,BMG_DS001831,"MONDO: An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. | MeSH: Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved."
+BMGC_DS01443,BMG_DS001832,"MONDO: Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. | MeSH: An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN."
+BMGC_DS01444,BMG_DS001833,"MONDO: A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. | MeSH: A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule."
+BMGC_DS01445,BMG_DS001834,MONDO: A neoplastic process characterized by diffuse overgrowth of mature adipose tissue. | MeSH: A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA.
+BMGC_DS01446,BMG_DS001836,"MONDO: Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). | MeSH: A condition characterized by the growth of unencapsulated masses of ADIPOSE TISSUE symmetrically deposited around the neck, shoulders, or other sites around the body."
+BMGC_DS01447,BMG_DS001837,"SNOMEDCT_US: A very rare lysosomal storage disease which is the normosomatic form of sialidosis with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. The prevalence is unknown but it is less frequent than sialidosis type 2. This disease is due to a mutation of the N-acetyl-alpha-neuraminidase-1 (NEU1) gene (6p21) encoding the lysosomal enzyme neuraminidase that initiates the degradation of sialoglycoconjugates in lysosomes. Mutations lead to a decrease in enzyme activity and consequently to an accumulation of sialyloligosaccharides in tissues. Disease severity is linked to level of residual neuraminidase activity in vivo and varies between patients. Inherited in an autosomal recessive manner. | MONDO: Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. | MeSH: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)"
+BMGC_DS01448,BMG_DS001838,"MONDO: Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. | MeSH: An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing."
+BMGC_DS01449,BMG_DS001839,"MONDO: A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. | MeSH: A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS01450,BMG_DS001840,"MONDO: A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy. | MeSH: Infections with bacteria of the genus LISTERIA."
+BMGC_DS01451,BMG_DS001841,"HPO: Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. [https://orcid.org/0000-0002-0736-9199] | MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS01452,BMG_DS001842,"MeSH: Solitary or multiple collections of PUS within the liver as a result of infection by bacteria, protozoa, or other agents."
+BMGC_DS01453,BMG_DS001843,MeSH: Single or multiple areas of PUS due to infection by any ameboid protozoa (AMEBIASIS). A common form is caused by the ingestion of ENTAMOEBA HISTOLYTICA.
+BMGC_DS01454,BMG_DS001844,"MONDO: A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. | MeSH: Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules."
+BMGC_DS01455,BMG_DS001845,MONDO: A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. | MeSH: FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING.
+BMGC_DS01456,BMG_DS001846,"MeSH: FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cholangitis involves the destruction of small intra-hepatic bile ducts and decreased bile secretion. Secondary biliary cholangitis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes."
+BMGC_DS01457,BMG_DS001847,MeSH: Pathological processes of the LIVER.
+BMGC_DS01458,BMG_DS001848,"MONDO: A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. | MeSH: Liver diseases associated with ALCOHOLISM. It usually refers to the coexistence of two or more subentities, i.e., ALCOHOLIC FATTY LIVER; ALCOHOLIC HEPATITIS; and ALCOHOLIC CIRRHOSIS."
+BMGC_DS01459,BMG_DS001849,"MeSH: Liver diseases caused by infections with PARASITES, such as tapeworms (CESTODA) and flukes (TREMATODA)."
+BMGC_DS01460,BMG_DS001850,MeSH: Tumors or cancer of the LIVER.
+BMGC_DS01461,BMG_DS001851,"NCI: The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal. | MONDO: Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. | MeSH: COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I."
+BMGC_DS01462,BMG_DS001853,"MONDO: Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking. | MeSH: Acquired neuromuscular disorder characterized by complete paralysis of voluntary muscles and lower CRANIAL NERVES except for limited voluntary eye movements. It is due to various cerebrospinal disconnections at or near the PONS and the POSTERIOR CRANIAL FOSSA, typically secondary to pontine hemorrhage or infarct. Because cognitive function is intact it is sometimes referred to as a pseudocoma state."
+BMGC_DS01463,BMG_DS001854,"MONDO: Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis. | MeSH: A parasitic infection caused by the nematode Loa loa. The vector in the transmission of this infection is the horsefly (Tabanus) or the deerfly or mango fly (Chrysops). The larvae may be seen just beneath the skin or passing through the conjunctiva. Eye lesions are not uncommon. The disease is generally mild and painless."
+BMGC_DS01464,BMG_DS001855,MONDO: A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome. | MeSH: A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
+BMGC_DS01465,BMG_DS001856,MeSH: An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep.
+BMGC_DS01466,BMG_DS001857,"MeSH: A form of ventricular pre-excitation characterized by a short PR interval and a normal QRS complex. In this syndrome, the atrial impulse conducts via the JAMES FIBERS which connect the atrium to BUNDLE OF HIS bypassing the upper ATRIOVENTRICULAR NODE. HEART VENTRICLES are depolarized normally through the His-Purkinje system."
+BMGC_DS01467,BMG_DS001858,"MONDO: Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed) | MeSH: Severe cellulitis of the submaxillary space with secondary involvement of the perimandibular spaces. It usually results from infection in the lower molar area or from an infection following a penetrating injury to the MOUTH FLOOR."
+BMGC_DS01468,BMG_DS001860,"MONDO: A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis. | MeSH: Solitary or multiple collections of PUS within the lung parenchyma as a result of infection by bacteria, protozoa, or other agents."
+BMGC_DS01469,BMG_DS001861,MONDO: A disease involving the lung. | MeSH: Pathological processes involving any part of the LUNG.
+BMGC_DS01470,BMG_DS001862,"MONDO: Pulmonary diseases caused by fungal infections, usually through hematogenous spread. | MeSH: Pulmonary diseases caused by fungal infections, usually through hematogenous spread."
+BMGC_DS01471,BMG_DS001863,"MONDO: A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. | MeSH: A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA."
+BMGC_DS01472,BMG_DS001864,"MeSH: Infections of the lungs with parasites, most commonly by parasitic worms (HELMINTHS)."
+BMGC_DS01473,BMG_DS001865,"MONDO: A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. | MeSH: Tumors or cancer of the LUNG."
+BMGC_DS01474,BMG_DS001867,"MONDO: An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. | MONDO: OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). | MeSH: A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)."
+BMGC_DS01475,BMG_DS001868,"MeSH: A chronic form of cutaneous lupus erythematosus (LUPUS ERYTHEMATOSUS, CUTANEOUS) in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur."
+BMGC_DS01476,BMG_DS001869,"NCI: A dermatologic manifestation of lupus involving erythematous, scaly patches or plaques, generally appearing on the upper back, chest, and arms, and often following sun exposure. It most often resolves without scarring. | MONDO: Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced. | MONDO: OBSOLETE. Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). | MeSH: A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID)."
+BMGC_DS01477,BMG_DS001870,"MONDO: An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. | MeSH: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow."
+BMGC_DS01478,BMG_DS001871,"MONDO: Glomerulonephritis in the context of systemic lupus erythematosus. | MeSH: Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982)."
+BMGC_DS01479,BMG_DS001872,MONDO: Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.
+BMGC_DS01480,BMG_DS001873,MONDO: A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis. | MeSH: A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS.
+BMGC_DS01481,BMG_DS001874,"MONDO: Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi. | MeSH: An infectious disease caused by a spirochete, BORRELIA BURGDORFERI, which is transmitted chiefly by Ixodes dammini (see IXODES) and pacificus ticks in the United States and Ixodes ricinis (see IXODES) in Europe. It is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations. The disease was formerly known as Lyme arthritis and first discovered at Old Lyme, Connecticut."
+BMGC_DS01482,BMG_DS001875,MONDO: Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. | MeSH: Inflammation of the lymph nodes.
+BMGC_DS01483,BMG_DS001876,MONDO: Dilatation of the lymphatic vessels. | MeSH: A transient dilatation of the lymphatic vessels.
+BMGC_DS01484,BMG_DS001879,MONDO: A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. | MeSH: A benign tumor resulting from a congenital malformation of the lymphatic system. Lymphangioendothelioma is a type of lymphangioma in which endothelial cells are the dominant component.
+BMGC_DS01485,BMG_DS001882,MONDO: Inflammation of the lymphatic vessels. | MeSH: A lymphatic disease characterized by INFLAMMATION of LYMPHATIC VESSELS.
+BMGC_DS01486,BMG_DS001883,MONDO: A disease or disorder that involves the lymphoid system. | MeSH: Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS.
+BMGC_DS01487,BMG_DS001884,"MONDO: Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. | MeSH: Edema due to obstruction of lymph vessels or disorders of the lymph nodes."
+BMGC_DS01488,BMG_DS001885,"MONDO: A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery. | MeSH: Cystic mass containing lymph from diseased lymphatic channels or following surgical trauma or other injury."
+BMGC_DS01489,BMG_DS001886,"MONDO: A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) | MeSH: A form of meningitis caused by LYMPHOCYTIC CHORIOMENINGITIS VIRUS. MICE and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ATAXIA, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal HYDROCEPHALUS, aqueductal stenosis, CHORIORETINITIS, and MICROCEPHALY. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)"
+BMGC_DS01490,BMG_DS001887,MeSH: Excess of normal lymphocytes in the blood or in any effusion.
+BMGC_DS01491,BMG_DS001888,"MONDO: Infection with the organism Mycobacterium. | MeSH: Subacute inflammation of the inguinal lymph glands caused by certain immunotypes of CHLAMYDIA TRACHOMATIS. It is a sexually transmitted disease in the U.S. but is more widespread in developing countries. It is distinguished from granuloma venereum (see GRANULOMA INGUINALE), which is caused by Calymmatobacterium granulomatis."
+BMGC_DS01492,BMG_DS001889,MeSH: A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.
+BMGC_DS01493,BMG_DS001890,"MONDO: A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. | MeSH: A general term for various neoplastic diseases of the lymphoid tissue."
+BMGC_DS01494,BMG_DS001891,MONDO: Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved. | MeSH: Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.
+BMGC_DS01495,BMG_DS001892,"MONDO: An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes."
+BMGC_DS01496,BMG_DS001893,"MONDO: Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. | MeSH: Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease."
+BMGC_DS01497,BMG_DS001894,"MONDO: Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. | MeSH: An angiocentric and angiodestructive lymphoproliferative disorder primarily involving the lungs. It is caused by an Epstein-Barr virus-induced transformation of the B-cells, in a T-cell rich environment. Clinically and pathologically it resembles EXTRANODAL NK-T-CELL LYMPHOMA."
+BMGC_DS01498,BMG_DS001895,MONDO: Reduction in the number of lymphocytes. | MeSH: Reduction in the number of lymphocytes.
+BMGC_DS01499,BMG_DS001896,"MONDO: A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). | MeSH: Disorders characterized by proliferation of lymphoid tissue, general or unspecified."
+BMGC_DS01500,BMG_DS001897,"MONDO: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. | MeSH: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)"
+BMGC_DS01501,BMG_DS001898,"MeSH: A lymphoproliferative disorder characterized by pleomorphic B-LYMPHOCYTES including PLASMA CELLS, with increased levels of monoclonal serum IMMUNOGLOBULIN M. There is lymphoplasmacytic cells infiltration into bone marrow and often other tissues, also known as lymphoplasmacytic lymphoma. Clinical features include ANEMIA; HEMORRHAGES; and hyperviscosity."
+BMGC_DS01502,BMG_DS001899,"MONDO: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) | MeSH: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)"
+BMGC_DS01503,BMG_DS001900,"MONDO: Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. | MeSH: Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms."
+BMGC_DS01504,BMG_DS001901,"ORPHANET: Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment."
+BMGC_DS01505,BMG_DS001902,"MONDO: An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis. | MeSH: Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90) | MeSH: Fluid accumulation in the outer layer of the MACULA LUTEA at the center of the RETINA in a petaloid pattern where cystic spaces are formed and may lead to macular depressions or holes."
+BMGC_DS01506,BMG_DS001903,"HPO: A macular hole is a small break in the macula, located in the center of the retina. [HPO_CONTRIBUTOR:DDD_ncarter] | MONDO: A hole in the macula of the retina. | MeSH: Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes."
+BMGC_DS01507,BMG_DS001904,"MONDO: Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains. | MeSH: A chronic progressive subcutaneous infection caused by species of fungi (eumycetoma), or actinomycetes (actinomycetoma). It is characterized by tumefaction, abscesses, and tumor-like granules representing microcolonies of pathogens, such as MADURELLA fungi and bacteria ACTINOMYCETES, with different grain colors."
+BMGC_DS01508,BMG_DS001905,"ORPHANET: A rare disorder characterized by multiple enchondromatosis associated with multiple (dark, irregularly shaped) hemangiomas. Less commonly, lymphangiomas are also reported. | MONDO: Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas. | MeSH: Benign growths of cartilage in the metaphyses of several bones."
+BMGC_DS01509,BMG_DS001906,"MONDO: A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) | MeSH: A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)"
+BMGC_DS01510,BMG_DS001907,"NCI: A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. | MONDO: A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. | MeSH: A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly."
+BMGC_DS01511,BMG_DS001908,NCI: An episode of depression lasting two or more weeks without an intervening episode of mania.
+BMGC_DS01512,BMG_DS001909,"MONDO: A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. | MeSH: General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients."
+BMGC_DS01513,BMG_DS001911,"MONDO: Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired. | MeSH: A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia."
+BMGC_DS01514,BMG_DS001913,"MONDO: A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. | MeSH: A condition characterized by somnolence or coma in the presence of an acute infection with PLASMODIUM FALCIPARUM (and rarely other Plasmodium species). Initial clinical manifestations include HEADACHES; SEIZURES; and alterations of mentation followed by a rapid progression to COMA. Pathologic features include cerebral capillaries filled with parasitized erythrocytes and multiple small foci of cortical and subcortical necrosis. (From Adams et al., Principles of Neurology, 6th ed, p136)"
+BMGC_DS01515,BMG_DS001914,"MONDO: Malaria resulting from infection by Plasmodium falciparum. | MeSH: Malaria caused by PLASMODIUM FALCIPARUM. This is the severest form of malaria and is associated with the highest levels of parasites in the blood. This disease is characterized by irregularly recurring febrile paroxysms that in extreme cases occur with acute cerebral, renal, or gastrointestinal manifestations."
+BMGC_DS01516,BMG_DS001915,NCI: Malaria resulting from infection by Plasmodium malariae. | MONDO: Malaria resulting from infection by Plasmodium malariae.
+BMGC_DS01517,BMG_DS001916,"MONDO: Malaria resulting from infection by Plasmodium vivax. | MeSH: Malaria caused by PLASMODIUM VIVAX. This form of malaria is less severe than MALARIA, FALCIPARUM, but there is a higher probability for relapses to occur. Febrile paroxysms often occur every other day."
+BMGC_DS01518,BMG_DS001917,"MeSH: A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS01519,BMG_DS001918,"NCI: Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure. | MONDO: Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure."
+BMGC_DS01520,BMG_DS001919,"MONDO: A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. | MeSH: Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia."
+BMGC_DS01521,BMG_DS001920,"NCI: An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma."
+BMGC_DS01522,BMG_DS001922,NCI: A primary or metastatic malignant neoplasm that affects the retina. | MONDO: A malignant neoplasm involving the retina.
+BMGC_DS01523,BMG_DS001923,MONDO: A primary or metastatic malignant neoplasm involving the stomach.
+BMGC_DS01524,BMG_DS001924,
+BMGC_DS01525,BMG_DS001926,MeSH: Diseases involving the MANDIBLE.
+BMGC_DS01526,BMG_DS001927,MeSH: Tumors or cancer of the MANDIBLE.
+BMGC_DS01527,BMG_DS001928,"MeSH: Infestations with arthropods of the subclass ACARI, superorder Acariformes."
+BMGC_DS01528,BMG_DS001929,"MeSH: A contagious cutaneous inflammation caused by the bite of the mite SARCOPTES SCABIEI. It is characterized by pruritic papular eruptions and burrows and affects primarily the axillae, elbows, wrists, and genitalia, although it can spread to cover the entire body."
+BMGC_DS01529,BMG_DS001930,MONDO: The manic phase of bipolar disorder.
+BMGC_DS01530,BMG_DS001931,"MONDO: Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. | MeSH: An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder."
+BMGC_DS01531,BMG_DS001932,"MONDO: A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. | MeSH: Infection with nematodes of the genus MANSONELLA. Symptoms include pruritus, headache, and articular swelling."
+BMGC_DS01532,BMG_DS001933,"MONDO: An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. | MeSH: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)"
+BMGC_DS01533,BMG_DS001934,"MONDO: Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. | MeSH: An RNA virus infection of rhesus, vervet, and squirrel monkeys transmissible to man."
+BMGC_DS01534,BMG_DS001935,"MONDO: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events."
+BMGC_DS01535,BMG_DS001936,"MONDO: A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. | MeSH: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue.  Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. | MeSH: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2."
+BMGC_DS01536,BMG_DS001938,"MeSH: Use of marijuana associated with abnormal psychological, social, and or occupational functioning."
+BMGC_DS01537,BMG_DS001939,"MONDO: Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development."
+BMGC_DS01538,BMG_DS001940,"MONDO: Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men. | MeSH: INFLAMMATION of the BREAST, or MAMMARY GLAND."
+BMGC_DS01539,BMG_DS001943,"MONDO: A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. | MeSH: A rare neoplastic disorder characterized by a clonal proliferation of MAST CELLS, associated with KIT-D816 mutations, and accompanied by aberrant mast cell activation. The abnormal increase of MAST CELLS may occur in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA)."
+BMGC_DS01540,BMG_DS001944,"MeSH: Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN."
+BMGC_DS01541,BMG_DS001945,"MONDO: Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM)."
+BMGC_DS01542,BMG_DS001946,MONDO: Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. | MeSH: Inflammation of the honeycomb-like MASTOID BONE in the skull just behind the ear. It is usually a complication of OTITIS MEDIA.
+BMGC_DS01543,BMG_DS001947,MeSH: Diseases involving the MAXILLA.
+BMGC_DS01544,BMG_DS001948,MONDO: Cancer or tumors of the maxilla or upper jaw. | MeSH: Cancer or tumors of the MAXILLA or upper jaw.
+BMGC_DS01545,BMG_DS001949,MONDO: A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. | MeSH: Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms.
+BMGC_DS01546,BMG_DS001950,"MONDO: An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus. | MeSH: Inflammation of the NASAL MUCOSA in the MAXILLARY SINUS. In many cases, it is caused by an infection of the bacteria HAEMOPHILUS INFLUENZAE; STREPTOCOCCUS PNEUMONIAE; or STAPHYLOCOCCUS AUREUS."
+BMGC_DS01547,BMG_DS001951,"MONDO: A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). | MeSH: A highly contagious infectious disease caused by MORBILLIVIRUS, common among children but also seen in the nonimmune of any age, in which the virus enters the respiratory tract via droplet nuclei and multiplies in the epithelial cells, spreading throughout the MONONUCLEAR PHAGOCYTE SYSTEM."
+BMGC_DS01548,BMG_DS001952,MONDO: A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.
+BMGC_DS01549,BMG_DS001953,"MONDO: A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. | MeSH: A condition caused by inhalation of MECONIUM into the LUNG of FETUS or NEWBORN, usually due to vigorous respiratory movements during difficult PARTURITION or respiratory system abnormalities. Meconium aspirate may block small airways leading to difficulties in PULMONARY GAS EXCHANGE and ASPIRATION PNEUMONIA."
+BMGC_DS01550,BMG_DS001956,"MeSH: Presence of air in the mediastinal tissues due to leakage of air from the tracheobronchial tree, usually as a result of trauma."
+BMGC_DS01551,BMG_DS001957,MONDO: A neoplasm (disease) that involves the mediastinum. | MeSH: Tumors or cancer of the MEDIASTINUM.
+BMGC_DS01552,BMG_DS001958,"MONDO: An inflammatory process affecting the mediastinum. | MeSH: Inflammation of the mediastinum, the area between the pleural sacs."
+BMGC_DS01553,BMG_DS001959,"MONDO: A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. | MeSH: A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)"
+BMGC_DS01554,BMG_DS001960,"MONDO: An abnormal dilation of the colon not due to obstruction. | MeSH: Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON."
+BMGC_DS01555,BMG_DS001961,"MONDO: An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis. | MeSH: An acute form of MEGACOLON, severe pathological dilatation of the COLON. It is associated with clinical conditions such as ULCERATIVE COLITIS; CROHN DISEASE; AMEBIC DYSENTERY; or CLOSTRIDIUM ENTEROCOLITIS."
+BMGC_DS01556,BMG_DS001962,"NCI: An abnormal dilation of the esophagus not due to obstruction. | MONDO: An abnormal dilation of the esophagus not due to obstruction. | MeSH: A motility disorder of the ESOPHAGUS in which the LOWER ESOPHAGEAL SPHINCTER (near the CARDIA) fails to relax resulting in functional obstruction of the esophagus, and DYSPHAGIA. Achalasia is characterized by a grossly contorted and dilated esophagus (megaesophagus)."
+BMGC_DS01557,BMG_DS001963,"MONDO: Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia. | MeSH: A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108)"
+BMGC_DS01558,BMG_DS001965,"NCI: A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite. | MONDO: A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite."
+BMGC_DS01559,BMG_DS001966,"MONDO: A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. | MeSH: A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)"
+BMGC_DS01560,BMG_DS001967,MeSH: Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.
+BMGC_DS01561,BMG_DS001969,NCI: Symmetrical patches of tan or brown discoloration on the skin of the face that darken with sun exposure. | MeSH: Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.
+BMGC_DS01562,BMG_DS001970,"ORPHANET: A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. | MONDO: Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. | MeSH: Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis)."
+BMGC_DS01563,BMG_DS001971,"MONDO: An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. | MeSH: A disease of humans and animals that resembles GLANDERS. It is caused by BURKHOLDERIA PSEUDOMALLEI and may range from a dormant infection to a condition that causes multiple abscesses, PNEUMONIA and BACTEREMIA."
+BMGC_DS01564,BMG_DS001972,"MONDO: The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. | MeSH: An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)"
+BMGC_DS01565,BMG_DS001973,"ORPHANET: Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. | MONDO: A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. | MeSH: Abnormal development of cartilage and bone."
+BMGC_DS01566,BMG_DS001974,MeSH: A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs.
+BMGC_DS01567,BMG_DS001975,"MONDO: Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. | MeSH: A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13)."
+BMGC_DS01568,BMG_DS001976,"MONDO: Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells. | MeSH: A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease."
+BMGC_DS01569,BMG_DS001977,"MONDO: Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. | MeSH: Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease."
+BMGC_DS01570,BMG_DS001978,MONDO: A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. | MeSH: A disease of the inner ear (LABYRINTH) that is characterized by fluctuating SENSORINEURAL HEARING LOSS; TINNITUS; episodic VERTIGO; and aural fullness. It is the most common form of endolymphatic hydrops.
+BMGC_DS01571,BMG_DS001979,"MONDO: A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions. | MeSH: Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord."
+BMGC_DS01572,BMG_DS001980,"MONDO: A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) | MeSH: A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7)"
+BMGC_DS01573,BMG_DS001981,"MONDO: A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. | MeSH: Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6)"
+BMGC_DS01574,BMG_DS001982,"MONDO: Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen. | MeSH: A syndrome characterized by headache, neck stiffness, low grade fever, and CSF lymphocytic pleocytosis in the absence of an acute bacterial pathogen. Viral meningitis is the most frequent cause although MYCOPLASMA INFECTIONS; RICKETTSIA INFECTIONS; diagnostic or therapeutic procedures; NEOPLASTIC PROCESSES; septic perimeningeal foci; and other conditions may result in this syndrome. (From Adams et al., Principles of Neurology, 6th ed, p745)"
+BMGC_DS01575,BMG_DS001983,"MONDO: Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults. | MeSH: Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults."
+BMGC_DS01576,BMG_DS001984,"MONDO: Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36) | MeSH: Inflammation of the meninges caused by LISTERIA MONOCYTOGENES infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. Clinical manifestations include FEVER, altered mentation, HEADACHE, meningeal signs, focal neurologic signs, and SEIZURES. (From Medicine 1998 Sep;77(5):313-36)"
+BMGC_DS01577,BMG_DS001985,"MONDO: An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. | MeSH: A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)"
+BMGC_DS01578,BMG_DS001986,"MONDO: An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111) | MeSH: An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)"
+BMGC_DS01579,BMG_DS001987,"MONDO: Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. | MeSH: Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RHABDOVIRIDAE INFECTIONS; ARENAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; JC VIRUS infections; and RETROVIRIDAE INFECTIONS may cause this form of meningitis. Clinical manifestations include fever, headache, neck pain, vomiting, PHOTOPHOBIA, and signs of meningeal irritation. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3)"
+BMGC_DS01580,BMG_DS001988,"HPO: Protrusion of the meninges through a defect of the skull or vertebral column. [https://orcid.org/0009-0006-4530-3154, PMID:32965845] | MONDO: A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium."
+BMGC_DS01581,BMG_DS001989,MONDO: Infections with bacteria of the species neisseria meningitidis. | MeSH: Infections with bacteria of the species NEISSERIA MENINGITIDIS.
+BMGC_DS01582,BMG_DS001990,MeSH: Infections with bacteria of the species NEISSERIA MENINGITIDIS.
+BMGC_DS01583,BMG_DS001991,"MONDO: Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. | MeSH: An inflammatory process involving the brain (ENCEPHALITIS) and meninges (MENINGITIS), most often produced by pathogenic organisms which invade the central nervous system, and occasionally by toxins, autoimmune disorders, and other conditions."
+BMGC_DS01584,BMG_DS001994,"MONDO: Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. | MeSH: Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)"
+BMGC_DS01585,BMG_DS001995,"NCI: A grouping of variable physical, vasomotor and psychological symptoms in climacteric females. Physical symptoms include: cessation of menses, headaches, fatigue, weight gain and vaginal dryness. Vasomotor symptoms typically include: palpitations, hot flashes and night sweats. Psychological symptoms may include: decrease in libido, emotional lability, difficulty concentrating and insomnia."
+BMGC_DS01586,BMG_DS001996,"MONDO: Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. | MeSH: The premature cessation of menses (MENSTRUATION) when the last menstrual period occurs in a woman under the age of 40. It is due to the depletion of OVARIAN FOLLICLES. Premature MENOPAUSE can be caused by diseases; OVARIECTOMY; RADIATION; chemicals; and chromosomal abnormalities."
+BMGC_DS01587,BMG_DS001997,MeSH: Variations of MENSTRUATION which may be indicative of disease.
+BMGC_DS01588,BMG_DS001998,
+BMGC_DS01589,BMG_DS001999,"MONDO: A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. | MeSH: A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)"
+BMGC_DS01590,BMG_DS002000,MONDO: Inflammation of the mesenteric lymph nodes. | MeSH: INFLAMMATION of LYMPH NODES in the MESENTERY.
+BMGC_DS01591,BMG_DS002002,"MONDO: Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6) | MeSH: Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)"
+BMGC_DS01592,BMG_DS002003,"MONDO: An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. | MeSH: A rare tumor of the female genital tract, most often the ovary, formerly considered to be derived from mesonephric rests. Two varieties are recognized: (1) clear cell carcinoma, so called because of its histologic resemblance to renal cell carcinoma, and now considered to be of muellerian duct derivation and (2) an embryonal tumor (called also ENDODERMAL SINUS TUMOR and yolk sac tumor), occurring chiefly in children. The latter variety may also arise in the testis. (Dorland, 27th ed)"
+BMGC_DS01593,BMG_DS002004,"MONDO: A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. | MeSH: A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)"
+BMGC_DS01594,BMG_DS002005,"MONDO: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. | MeSH: Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)"
+BMGC_DS01595,BMG_DS002006,"MONDO: An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. | MeSH: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero."
+BMGC_DS01596,BMG_DS002007,"NCI: An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. | MONDO: An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. | MeSH: Infections caused by infestation with worms of the class Trematoda."
+BMGC_DS01597,BMG_DS002008,MONDO: An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. | MeSH: Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.
+BMGC_DS01598,BMG_DS002009,"MONDO: An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. | MeSH: The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)"
+BMGC_DS01599,BMG_DS002010,MeSH: VASCULAR DISEASES that are associated with DIABETES MELLITUS.
+BMGC_DS01600,BMG_DS002011,"MeSH: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)"
+BMGC_DS01601,BMG_DS002012,MONDO: Congenital or developmental anomaly in which the eyeballs are abnormally small. | MeSH: Congenital or developmental anomaly in which the eyeballs are abnormally small.
+BMGC_DS01602,BMG_DS002013,"MONDO: Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) | MeSH: Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)"
+BMGC_DS01603,BMG_DS002014,"MONDO: IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis. | MeSH: A chronic, benign, and usually painless inflammatory swelling of the lacrimal and salivary glands. It is considered by some to include the glandular enlargement associated with other diseases, such as Sjogren's syndrome, sarcoidosis, lupus erythematosus, etc."
+BMGC_DS01604,BMG_DS002015,"MONDO: A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. | MeSH: A syndrome of cutaneous changes associated with sweat retention and extravasation of sweat at different levels in the skin. Miliaria rubra, or prickly heat, results from apocrine duct obstruction. The sweat then seeps into the epidermis, producing pruritic erythematous papulovesicles. (From Dorland, 27th ed)"
+BMGC_DS01605,BMG_DS002017,"MONDO: The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency. | MeSH: Abnormally high level of calcium in the blood."
+BMGC_DS01606,BMG_DS002018,MONDO: Virus diseases caused by the poxviridae. | MeSH: Virus diseases caused by the POXVIRIDAE.
+BMGC_DS01607,BMG_DS002019,"MONDO: Infestations with arthropods of the subclass acari, superorder Acariformes. | MeSH: Infestations with arthropods of the subclass ACARI, superorder Acariformes."
+BMGC_DS01608,BMG_DS002020,NCI: A heart disorder characterized by a defect in mitral valve structure or function. | MONDO: A disease involving the mitral valve.
+BMGC_DS01609,BMG_DS002021,MONDO: A mitral valve disorder characterized by incomplete valve closure. | MeSH: Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation.
+BMGC_DS01610,BMG_DS002022,"MONDO: A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. | MeSH: Abnormal protrusion or billowing of one or both of the leaflets of MITRAL VALVE into the LEFT ATRIUM during SYSTOLE. This allows the backflow of blood into left atrium leading to MITRAL VALVE INSUFFICIENCY; SYSTOLIC MURMURS; or CARDIAC ARRHYTHMIA."
+BMGC_DS01611,BMG_DS002023,"MONDO: Narrowing of the left atrioventricular mitral orifice. | MeSH: Narrowing of the passage through the MITRAL VALVE due to FIBROSIS, and CALCINOSIS in the leaflets and chordal areas. This elevates the left atrial pressure which, in turn, raises pulmonary venous and capillary pressure leading to bouts of DYSPNEA and TACHYCARDIA during physical exertion. RHEUMATIC FEVER is its primary cause."
+BMGC_DS01612,BMG_DS002024,"MONDO: Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. | MeSH: A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a speckled epidermal nuclear staining pattern on direct immunofluorescence."
+BMGC_DS01613,BMG_DS002025,"MeSH: A benign, slow-growing tumor, most commonly of the salivary gland, occurring as a small, painless, firm nodule, usually of the parotid gland, but also found in any major or accessory salivary gland anywhere in the oral cavity. It is most often seen in women in the fifth decade. Histologically, the tumor presents a variety of cells: cuboidal, columnar, and squamous cells, showing all forms of epithelial growth. (Dorland, 27th ed)"
+BMGC_DS01614,BMG_DS002026,"MONDO: Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. | MeSH: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait."
+BMGC_DS01615,BMG_DS002027,"MONDO: A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (molluscum contagiosum virus). (Dorland, 27th ed) | MeSH: A common, benign, usually self-limited viral infection of the skin and occasionally the conjunctivae by a poxvirus (MOLLUSCUM CONTAGIOSUM VIRUS). (Dorland, 27th ed)"
+BMGC_DS01616,BMG_DS002028,MONDO: Infection of ruminants with tapeworms of the genus Moniezia. | MeSH: Infection of ruminants with tapeworms of the genus Moniezia.
+BMGC_DS01617,BMG_DS002030,"MONDO: A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases."
+BMGC_DS01618,BMG_DS002031,"MONDO: A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma."
+BMGC_DS01619,BMG_DS002033,"MONDO: Strong dependence, both physiological and emotional, upon morphine. | MeSH: Strong dependence, both physiological and emotional, upon morphine."
+BMGC_DS01620,BMG_DS002034,"MONDO: A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting. | MeSH: Disorder caused by motion. It includes sea sickness, train sickness, roller coaster rides, rocking chair, hammock swing, car sickness, air sickness, or SPACE MOTION SICKNESS. Symptoms include nausea, vomiting and/or dizziness."
+BMGC_DS01621,BMG_DS002035,"MONDO: A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel. | MeSH: A chronic endemic form of ENAMEL HYPOMINERALIZATION caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)"
+BMGC_DS01622,BMG_DS002036,MONDO: A disease involving the mouth. | MeSH: Diseases involving the MOUTH.
+BMGC_DS01623,BMG_DS002037,MONDO: A neoplasm (disease) that involves the oral cavity. | MeSH: Tumors or cancer of the MOUTH.
+BMGC_DS01624,BMG_DS002038,"MONDO: Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. | MeSH: Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions."
+BMGC_DS01625,BMG_DS002039,"MONDO: Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. | MeSH: A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults."
+BMGC_DS01626,BMG_DS002040,NCI: Accumulation of mucus within the appendix. | MONDO: Accumulation of mucus within the appendix.
+BMGC_DS01627,BMG_DS002041,"NCI: A fluid-filled cavity containing saliva. | MONDO: A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction."
+BMGC_DS01628,BMG_DS002042,"MONDO: Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. | MeSH: An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities."
+BMGC_DS01629,BMG_DS002043,"MONDO: A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. | MeSH: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)"
+BMGC_DS01630,BMG_DS002044,"MONDO: A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. | MeSH: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency."
+BMGC_DS01631,BMG_DS002045,"MONDO: A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. | MeSH: Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15."
+BMGC_DS01632,BMG_DS002046,"MONDO: Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration. | MeSH: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme."
+BMGC_DS01633,BMG_DS002047,"MONDO: A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B. | MeSH: Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme."
+BMGC_DS01634,BMG_DS002048,"NCI: An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism. | MONDO: Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. | MeSH: A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders."
+BMGC_DS01635,BMG_DS002049,"MONDO: Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. | MeSH: Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B)."
+BMGC_DS01636,BMG_DS002050,"MeSH: Infection in humans and animals caused by any fungus in the order MUCORALES (e.g., RHIZOPUS; MUCOR; CUNNINGHAMELLA; APOPHYSOMYCES; ABSIDIA; SAKSENAEA and RHIZOMUCOR) There are many clinical types associated with infection including central nervous system, lung, gastrointestinal tract, skin, orbit and paranasal sinuses. In humans, it usually occurs as an OPPORTUNISTIC INFECTION."
+BMGC_DS01637,BMG_DS002051,"MONDO: Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. | MeSH: A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY."
+BMGC_DS01638,BMG_DS002052,"ORPHANET: A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features. | MONDO: Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6."
+BMGC_DS01639,BMG_DS002053,"MONDO: A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) | MeSH: A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY."
+BMGC_DS01640,BMG_DS002054,"MONDO: The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult. | MeSH: A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative."
+BMGC_DS01641,BMG_DS002055,"MONDO: A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. | MeSH: An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)"
+BMGC_DS01642,BMG_DS002056,NCI: A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition. | MONDO: A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.
+BMGC_DS01643,BMG_DS002057,"MONDO: A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. | MeSH: An acute infectious disease caused by RUBULAVIRUS, spread by direct contact, airborne droplet nuclei, fomites contaminated by infectious saliva, and perhaps urine, and usually seen in children under the age of 15, although adults may also be affected. (From Dorland, 28th ed)"
+BMGC_DS01644,BMG_DS002058,"MeSH: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation."
+BMGC_DS01645,BMG_DS002059,"MONDO: A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. | MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS01646,BMG_DS002060,"MONDO: A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. | MONDO: A disease involving the muscle tissue. | MeSH: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE."
+BMGC_DS01647,BMG_DS002062,"MONDO: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. | MeSH: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS."
+BMGC_DS01648,BMG_DS002063,MeSH: MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals.
+BMGC_DS01649,BMG_DS002064,MONDO: A disease involving the musculoskeletal system. | MeSH: Diseases of the muscles and their associated ligaments and other connective tissue and of the bones and cartilage viewed collectively.
+BMGC_DS01650,BMG_DS002065,"MONDO: The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. | MeSH: The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with BRAIN DISEASES or MENTAL DISORDERS. Organic mutism may be associated with damage to the FRONTAL LOBE; BRAIN STEM; THALAMUS; and CEREBELLUM. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44)"
+BMGC_DS01651,BMG_DS002066,"MONDO: Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. | MeSH: A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition."
+BMGC_DS01652,BMG_DS002068,"MONDO: An infection that is caused by Mycobacterium avium. | MeSH: A nontuberculous infection when occurring in humans. It is characterized by pulmonary disease, lymphadenitis in children, and systemic disease in AIDS patients. Mycobacterium avium-intracellulare infection of birds and swine results in tuberculosis."
+BMGC_DS01653,BMG_DS002069,MONDO: Infection due to organisms from the genus Mycobacteria. | MeSH: Infections with bacteria of the genus MYCOBACTERIUM.
+BMGC_DS01654,BMG_DS002070,"MeSH: Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae, M. leprae."
+BMGC_DS01655,BMG_DS002071,MeSH: Infections with species of the genus MYCOPLASMA.
+BMGC_DS01656,BMG_DS002073,MONDO: An infection caused by a fungus. | MeSH: Diseases caused by FUNGI.
+BMGC_DS01657,BMG_DS002074,"MONDO: Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. | MeSH: A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected."
+BMGC_DS01658,BMG_DS002075,"MONDO: An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. | MeSH: Inflammation of the spinal cord. Relatively common etiologies include infections; AUTOIMMUNE DISEASES; SPINAL CORD; and ischemia (see also SPINAL CORD VASCULAR DISEASES). Clinical features generally include weakness, sensory loss, localized pain, incontinence, and other signs of autonomic dysfunction."
+BMGC_DS01659,BMG_DS002076,"MeSH: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)"
+BMGC_DS01660,BMG_DS002077,"MONDO: A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003"
+BMGC_DS01661,BMG_DS002078,"ORPHANET: A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly. | MONDO: An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)"
+BMGC_DS01662,BMG_DS002079,"MeSH: Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE."
+BMGC_DS01663,BMG_DS002080,"MONDO: The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. | MeSH: The invasion of living tissues of man and other mammals by dipterous larvae."
+BMGC_DS01664,BMG_DS002086,"NCI: A granular cell tumor characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO: A granular cell tumor that is confined to the site of origin, without metastatic potential."
+BMGC_DS01665,BMG_DS002087,"MONDO: Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. | MeSH: NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION)."
+BMGC_DS01666,BMG_DS002088,"MONDO: Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak. | MeSH: Inflammatory processes of the muscular walls of the heart (MYOCARDIUM) which result in injury to the cardiac muscle cells (MYOCYTES, CARDIAC). Manifestations range from subclinical to sudden death (DEATH, SUDDEN). Myocarditis in association with cardiac dysfunction is classified as inflammatory CARDIOMYOPATHY usually caused by INFECTION, autoimmune diseases, or responses to toxic substances. Myocarditis is also a common cause of DILATED CARDIOMYOPATHY and other cardiomyopathies."
+BMGC_DS01667,BMG_DS002089,"NCI: Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present. | MONDO: Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present."
+BMGC_DS01668,BMG_DS002091,"MONDO: A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. | MeSH: A usually benign tumor made up predominantly of myoepithelial cells."
+BMGC_DS01669,BMG_DS002092,"MONDO: Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome. | MeSH: Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME."
+BMGC_DS01670,BMG_DS002093,"MONDO: A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue. | MeSH: A benign neoplasm of muscular tissue. (Stedman, 25th ed)"
+BMGC_DS01671,BMG_DS002094,"MONDO: The condition in which the individual does not see far distances clearly. | MeSH: A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness."
+BMGC_DS01672,BMG_DS002095,"MeSH: A general term for a malignant neoplasm derived from muscular tissue. (Stedman, 25th ed)"
+BMGC_DS01673,BMG_DS002096,MONDO: An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. | MeSH: Inflammation of a muscle or muscle tissue.
+BMGC_DS01674,BMG_DS002097,MONDO: A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues. | MeSH: A disease characterized by bony deposits or the ossification of muscle tissue.
+BMGC_DS01675,BMG_DS002099,"MONDO: An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. | MeSH: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2."
+BMGC_DS01676,BMG_DS002100,"MONDO: A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy. | MONDO: A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). | MeSH: Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders."
+BMGC_DS01677,BMG_DS002101,NCI: A cataract occurring as a sequela of myotonic dystrophy. | MONDO: A cataract occurring as a sequela of myotonic dystrophy.
+BMGC_DS01678,BMG_DS002103,"MONDO: A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. | MeSH: A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips."
+BMGC_DS01679,BMG_DS002106,"MONDO: An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation. | MeSH: A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)"
+BMGC_DS01680,BMG_DS002109,MONDO: A disease involving the nail. | MeSH: Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.
+BMGC_DS01681,BMG_DS002110,"MONDO: A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. | MeSH: A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait."
+BMGC_DS01682,BMG_DS002112,NCI: A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others. | MONDO: A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others.
+BMGC_DS01683,BMG_DS002113,"MONDO: A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. | MeSH: A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)"
+BMGC_DS01684,BMG_DS002114,"MONDO: A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection. | MeSH: Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations."
+BMGC_DS01685,BMG_DS002116,"MONDO: A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma. | MeSH: Pathological processes involving the NASOPHARYNX."
+BMGC_DS01686,BMG_DS002117,MONDO: A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma. | MeSH: Tumors or cancer of the NASOPHARYNX.
+BMGC_DS01687,BMG_DS002118,"MONDO: An inflammatory process that affects the nasopharynx. | MeSH: Inflammation of the NASOPHARYNX, usually including its mucosa, related lymphoid structure, and glands."
+BMGC_DS01688,BMG_DS002119,"MeSH: Predeciduous teeth present at birth. They may be well formed and normal or may represent hornified epithelial structures without roots. They are found on the gingivae over the crest of the ridge and arise from accessory buds of the dental lamina ahead of the deciduous buds or from buds of the accessory dental lamina. (From Jablonski, Dictionary of Dentistry, 1992)"
+BMGC_DS01689,BMG_DS002120,"MONDO: A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia. | MeSH: Infection of humans or animals with hookworms of the genus NECATOR. The resulting anemia from this condition is less severe than that from ANCYLOSTOMIASIS."
+BMGC_DS01690,BMG_DS002124,"MONDO: Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring. | MeSH: A degenerative disease of the dermal connective tissue characterized by the development of erythematous papules or nodules in the pretibial area. The papules form plaques covered with telangiectatic vessels. More than half of the affected patients have diabetes."
+BMGC_DS01691,BMG_DS002125,"MONDO: Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure."
+BMGC_DS01692,BMG_DS002127,"MeSH: A syndrome characterized by HYPERPIGMENTATION, enlarging pituitary mass, visual defects secondary to compression of the OPTIC CHIASM, and elevated serum ACTH. It is caused by the expansion of an underlying ACTH-SECRETING PITUITARY ADENOMA that grows in the absence of feedback inhibition by adrenal CORTICOSTEROIDS, usually after ADRENALECTOMY."
+BMGC_DS01693,BMG_DS002129,MeSH: Infestation with parasitic worms of the helminth class.
+BMGC_DS01694,BMG_DS002130,"MONDO: A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. | MeSH: Fetal and neonatal addiction and withdrawal as a result of the mother's dependence on drugs during pregnancy. Withdrawal or abstinence symptoms develop shortly after birth. Symptoms exhibited are loud, high-pitched crying, sweating, yawning and gastrointestinal disturbances."
+BMGC_DS01695,BMG_DS002131,
+BMGC_DS01696,BMG_DS002132,"MeSH: Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES."
+BMGC_DS01697,BMG_DS002134,"MONDO: A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. | MeSH: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms."
+BMGC_DS01698,BMG_DS002135,"MONDO: A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003"
+BMGC_DS01699,BMG_DS002136,"MONDO: Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. | MeSH: Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue."
+BMGC_DS01700,BMG_DS002137,"MeSH: Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS."
+BMGC_DS01701,BMG_DS002138,"MONDO: Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs."
+BMGC_DS01702,BMG_DS002139,"MeSH: Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles."
+BMGC_DS01703,BMG_DS002140,MeSH: Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves.
+BMGC_DS01704,BMG_DS002142,"MONDO: The inherited predisposition toward getting a tumor. | MeSH: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance."
+BMGC_DS01705,BMG_DS002143,MONDO: Inflammation of renal tissue. | MeSH: Inflammation of any part of the KIDNEY.
+BMGC_DS01706,BMG_DS002144,MONDO: A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. | MeSH: A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
+BMGC_DS01707,BMG_DS002145,"MeSH: Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction."
+BMGC_DS01708,BMG_DS002146,"MONDO: An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix."
+BMGC_DS01709,BMG_DS002147,"MONDO: Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. | MeSH: A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY."
+BMGC_DS01710,BMG_DS002148,"MONDO: Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. | MeSH: Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA."
+BMGC_DS01711,BMG_DS002149,MONDO: Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. | MeSH: Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.
+BMGC_DS01712,BMG_DS002150,MONDO: A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. | MeSH: A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA.
+BMGC_DS01713,BMG_DS002151,"MONDO: A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. | MeSH: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction."
+BMGC_DS01714,BMG_DS002152,MeSH: Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
+BMGC_DS01715,BMG_DS002153,MONDO: A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. | MeSH: Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
+BMGC_DS01716,BMG_DS002154,"MONDO: A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. | MeSH: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle."
+BMGC_DS01717,BMG_DS002156,"NCI: A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. | MeSH: An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the PANCREAS and CONGENITAL HYPERINSULINISM. It is due to focal hyperplasia of pancreatic ISLET CELLS budding off from the ductal structures and forming new islets of Langerhans. Mutations in the islet cells involve the potassium channel gene KCNJ11 or the ATP-binding cassette transporter gene ABCC8, both on CHROMOSOME 11."
+BMGC_DS01718,BMG_DS002157,"MONDO: A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. | MeSH: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)"
+BMGC_DS01719,BMG_DS002158,MONDO: A pain disorder characterize by pain in the distribution of a nerve or nerves | MeSH: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
+BMGC_DS01720,BMG_DS002160,"MONDO: A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported. | MeSH: A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)"
+BMGC_DS01721,BMG_DS002161,MONDO: A neuropathy arising from inflammation of one or more nerves. | MeSH: A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA.
+BMGC_DS01722,BMG_DS002162,"MONDO: Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. | MeSH: A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)"
+BMGC_DS01723,BMG_DS002163,"MeSH: A clinical syndrome characterized by palpitation, SHORTNESS OF BREATH, labored breathing, subjective complaints of effort and discomfort, all following slight PHYSICAL EXERTION. Other symptoms may be DIZZINESS, tremulousness, SWEATING, and INSOMNIA. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder."
+BMGC_DS01724,BMG_DS002164,"MONDO: Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. | MeSH: An extremely variable eczematous skin disease that is presumed to be a response to prolonged vigorous scratching, rubbing, or pinching to relieve intense pruritus. It varies in intensity, severity, course, and morphologic expression in different individuals. Neurodermatitis is believed by some to be psychogenic. The circumscribed or localized form is often referred to as lichen simplex chronicus."
+BMGC_DS01725,BMG_DS002165,"MONDO: An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. | MeSH: A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)"
+BMGC_DS01726,BMG_DS002166,"MONDO: A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. | MeSH: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS)."
+BMGC_DS01727,BMG_DS002167,"MONDO: A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. | MeSH: An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life."
+BMGC_DS01728,BMG_DS002168,"MONDO: Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. | MeSH: A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)"
+BMGC_DS01729,BMG_DS002169,"MONDO: A tumor that grows from a nerve or is composed of nerve cells and nerve fibers. | MeSH: A tumor made up of nerve cells and nerve fibers. (Dorland, 27th ed)"
+BMGC_DS01730,BMG_DS002170,"MONDO: A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing. | MeSH: A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)"
+BMGC_DS01731,BMG_DS002171,"MONDO: Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions | MeSH: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA."
+BMGC_DS01732,BMG_DS002172,"MONDO: A rare inflammatory disease of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis. | MeSH: A syndrome characterized by acute OPTIC NEURITIS; MYELITIS, TRANSVERSE; demyelinating and/or necrotizing lesions in the OPTIC NERVES and SPINAL CORD; and presence of specific autoantibodies to AQUAPORIN 4."
+BMGC_DS01733,BMG_DS002173,"MONDO: A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. | MeSH: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure."
+BMGC_DS01734,BMG_DS002174,
+BMGC_DS01735,BMG_DS002175,"MONDO: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) | MeSH: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)"
+BMGC_DS01736,BMG_DS002176,"MONDO: An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. | MeSH: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)"
+BMGC_DS01737,BMG_DS002177,"MONDO: Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia. | MeSH: Infections of the central nervous system caused by TREPONEMA PALLIDUM which present with a variety of clinical syndromes. The initial phase of infection usually causes a mild or asymptomatic meningeal reaction. The meningovascular form may present acutely as BRAIN INFARCTION. The infection may also remain subclinical for several years. Late syndromes include general paresis; TABES DORSALIS; meningeal syphilis; syphilitic OPTIC ATROPHY; and spinal syphilis. General paresis is characterized by progressive DEMENTIA; DYSARTHRIA; TREMOR; MYOCLONUS; SEIZURES; and Argyll-Robertson pupils. (Adams et al., Principles of Neurology, 6th ed, pp722-8)"
+BMGC_DS01738,BMG_DS002178,"MONDO: A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears. | MeSH: Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment."
+BMGC_DS01739,BMG_DS002179,MeSH: A decrease in the number of NEUTROPHILS found in the blood.
+BMGC_DS01740,BMG_DS002181,"MONDO: A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. | MeSH: A nevus containing melanin. The term is usually restricted to nevocytic nevi (round or oval collections of melanin-containing nevus cells occurring at the dermoepidermal junction of the skin or in the dermis proper) or moles, but may be applied to other pigmented nevi."
+BMGC_DS01741,BMG_DS002182,"MONDO: A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea. | MeSH: An acute febrile, contagious, viral disease of birds caused by an AVULAVIRUS called NEWCASTLE DISEASE VIRUS. It is characterized by respiratory and nervous symptoms in fowl and is transmissible to man causing a severe, but transient conjunctivitis."
+BMGC_DS01742,BMG_DS002183,NCI: Physical and psychological dependence on nicotine. | MONDO: Physical and psychological dependence on nicotine.
+BMGC_DS01743,BMG_DS002184,"MONDO: A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. | MeSH: A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences."
+BMGC_DS01744,BMG_DS002185,"MONDO: Inability to see clearly in dim light. | MeSH: Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)"
+BMGC_DS01745,BMG_DS002186,"MONDO: Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection. | MeSH: Infections with bacteria of the genus NOCARDIA."
+BMGC_DS01746,BMG_DS002188,
+BMGC_DS01747,BMG_DS002190,"MONDO: Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. | MeSH: A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)"
+BMGC_DS01748,BMG_DS002193,"MONDO: Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects. | MeSH: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1."
+BMGC_DS01749,BMG_DS002194,"NCI: A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia. | MONDO: A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia."
+BMGC_DS01750,BMG_DS002195,"MONDO: A disease involving the nose. | MeSH: Disorders of the nose, general or unspecified."
+BMGC_DS01751,BMG_DS002198,"MeSH: Frequent URINATION at night that interrupts sleep. It is often associated with outflow obstruction, DIABETES MELLITUS, or bladder inflammation (CYSTITIS)."
+BMGC_DS01752,BMG_DS002199,MONDO: Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.
+BMGC_DS01753,BMG_DS002200,"MONDO: A disorder involving an excessive amount of body fat. | MeSH: A status with BODY WEIGHT that is grossly above the recommended standards, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)."
+BMGC_DS01754,BMG_DS002201,"MONDO: An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight. | MeSH: The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2."
+BMGC_DS01755,BMG_DS002202,"MONDO: A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. | MeSH: An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension."
+BMGC_DS01756,BMG_DS002203,
+BMGC_DS01757,BMG_DS002204,MONDO: Contact dermatitis associated with allergens or irritants found in the workplace. | MeSH: A recurrent contact dermatitis caused by substances found in the work place.
+BMGC_DS01758,BMG_DS002205,MONDO: Any disorder that is realized in response to an exposure to occupation. | MeSH: Diseases caused by factors involved in one's employment.
+BMGC_DS01759,BMG_DS002206,"MONDO: A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. | MeSH: The yellowish discoloration of connective tissue due to deposition of HOMOGENTISIC ACID (a brown-black pigment). This is due to defects in the metabolism of PHENYLALANINE and TYROSINE. Ochronosis occurs in ALKAPTONURIA, but has also been associated with exposure to certain chemicals (e.g., PHENOL, trinitrophenol, BENZENE DERIVATIVES)."
+BMGC_DS01760,BMG_DS002207,MONDO: Abnormally high intraocular pressure. | MeSH: A condition in which the intraocular pressure is elevated above normal and which may lead to glaucoma.
+BMGC_DS01761,BMG_DS002208,MONDO: Abnormally low intraocular pressure often related to chronic inflammation (uveitis). | MeSH: Abnormally low intraocular pressure often related to chronic inflammation (uveitis).
+BMGC_DS01762,BMG_DS002210,"MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS01763,BMG_DS002211,"MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS01764,BMG_DS002212,"MONDO: Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. | MeSH: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)"
+BMGC_DS01765,BMG_DS002213,"MONDO: Paralysis of the oculomotor nerve. | MeSH: Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)"
+BMGC_DS01766,BMG_DS002217,MONDO: Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans. | MeSH: Infection of the intestinal tract with worms of the genus OESOPHAGOSTOMUM. This condition occurs mainly in animals other than man.
+BMGC_DS01767,BMG_DS002218,"MONDO: A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO) | MeSH: A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)"
+BMGC_DS01768,BMG_DS002219,"MONDO: Decreased number of spermatozoa in the semen. | MeSH: A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen."
+BMGC_DS01769,BMG_DS002220,MeSH: Decreased URINE output that is below the normal range. Oliguria can be defined as urine output of less than or equal to 0.5 or 1 ml/kg/hr depending on the age.
+BMGC_DS01770,BMG_DS002221,"MONDO: A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives. | MeSH: A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)"
+BMGC_DS01771,BMG_DS002224,"MONDO: Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy. | MeSH: Infection with nematodes of the genus ONCHOCERCA. Characteristics include the presence of firm subcutaneous nodules filled with adult worms, PRURITUS, and ocular lesions."
+BMGC_DS01772,BMG_DS002226,"MONDO: Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix. | MeSH: Inflammation of the OVARY, generally caused by an ascending infection of organisms from the endocervix."
+BMGC_DS01773,BMG_DS002227,NCI: Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. | MONDO: Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.
+BMGC_DS01774,BMG_DS002228,"MONDO: Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye. | MeSH: Granulomatous uveitis which follows in one eye after a penetrating injury to the other eye; the secondarily affected eye is called the sympathizing eye, and the injured eye is called the exciting or activating eye."
+BMGC_DS01775,BMG_DS002229,"MONDO: Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis. | MeSH: Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles."
+BMGC_DS01776,BMG_DS002230,MONDO: A substance abuse that involves the recurring use of opioid drugs despite negative consequences.
+BMGC_DS01777,BMG_DS002231,MONDO: Infection with flukes of the genus Opisthorchis. | MeSH: Infection with flukes of the genus Opisthorchis.
+BMGC_DS01778,BMG_DS002233,MONDO: A mycosis that arises from infection in an immunologically compromised host.
+BMGC_DS01779,BMG_DS002234,"NCI: A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors. | MONDO: A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors."
+BMGC_DS01780,BMG_DS002235,"MONDO: A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances. | MeSH: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition."
+BMGC_DS01781,BMG_DS002236,"MONDO: A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. | MeSH: Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER)."
+BMGC_DS01782,BMG_DS002237,"MONDO: Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355) | MeSH: Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated INTRACRANIAL HYPERTENSION) and visual field deficits. Drusen may also occur in the retina (see RETINAL DRUSEN). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)"
+BMGC_DS01783,BMG_DS002238,"MeSH: Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect."
+BMGC_DS01784,BMG_DS002239,"MONDO: Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated. | MeSH: Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis)."
+BMGC_DS01785,BMG_DS002240,"NCI: Chronic, progressive, debilitating and non-reversible fibrosis of the submucosal tissues of the mouth. It is associated with chewing betel quid, a habit practiced in Southeast Asia and India. It is a precancerous condition and results in rigidity of the jaws and inability of the affected individual to open the mouth."
+BMGC_DS01786,BMG_DS002241,"MONDO: Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment. | MeSH: Irreversible FIBROSIS of the submucosal tissue of the MOUTH."
+BMGC_DS01787,BMG_DS002242,MONDO: Diseases of the bony orbit and contents except the eyeball. | MeSH: Diseases of the bony orbit and contents except the eyeball.
+BMGC_DS01788,BMG_DS002243,MONDO: A benign or malignant neoplasm that affects the orbit. | MeSH: Neoplasms of the bony orbit and contents except the eyeball.
+BMGC_DS01789,BMG_DS002244,"MONDO: Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. | MeSH: Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD."
+BMGC_DS01790,BMG_DS002245,
+BMGC_DS01791,BMG_DS002246,"MeSH: Cognitive disorders including delirium, dementia, and other cognitive disorders. These may be the result of substance use, trauma, or other causes."
+BMGC_DS01792,BMG_DS002248,"MONDO: Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans. | MeSH: Infection with CHLAMYDOPHILA PSITTACI (formerly Chlamydia psittaci), transmitted to humans by inhalation of dust-borne contaminated nasal secretions or excreta of infected BIRDS. This infection results in a febrile illness characterized by PNEUMONITIS and systemic manifestations."
+BMGC_DS01793,BMG_DS002249,"MONDO: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. | MeSH: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait."
+BMGC_DS01794,BMG_DS002250,MONDO: A neoplasm (disease) that involves the oropharynx. | MeSH: Tumors or cancer of the OROPHARYNX.
+BMGC_DS01795,BMG_DS002252,MeSH: Virus diseases caused by the ORTHOMYXOVIRIDAE.
+BMGC_DS01796,BMG_DS002253,HPO: Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae. [https://orcid.org/0009-0006-4530-3154] | MONDO: Osteochondrosis of the growth plate near the tibial tuberosity.
+BMGC_DS01797,BMG_DS002254,MONDO: Inflammation of the bone. | MeSH: Inflammation of the bone.
+BMGC_DS01798,BMG_DS002255,"MONDO: A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue. | MeSH: A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry."
+BMGC_DS01799,BMG_DS002256,"MONDO: A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism. | MeSH: A fibrous degeneration, cyst formation, and the presence of fibrous nodules in bone, usually due to HYPERPARATHYROIDISM."
+BMGC_DS01800,BMG_DS002257,"MONDO: A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. | MeSH: A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans."
+BMGC_DS01801,BMG_DS002258,"MONDO: Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. | MeSH: Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion."
+BMGC_DS01802,BMG_DS002259,"MONDO: A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. | MeSH: A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists."
+BMGC_DS01803,BMG_DS002260,"MONDO: Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed) | MeSH: Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)"
+BMGC_DS01804,BMG_DS002263,"MONDO: A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. | MeSH: A type of osteochondritis in which articular cartilage and associated bone becomes partially or totally detached to form joint loose bodies. Affects mainly the knee, ankle, and elbow joints."
+BMGC_DS01805,BMG_DS002264,MONDO: A term referring to disorders characterized by abnormalities in the development of bones and cartilage. | MeSH: Abnormal development of cartilage and bone.
+BMGC_DS01806,BMG_DS002266,"MONDO: A condition that is characterized by defective bone growth that affects the growth centers of bone. | MeSH: Any of a group of bone disorders involving one or more ossification centers (EPIPHYSES). It is characterized by degeneration or NECROSIS followed by revascularization and reossification. Osteochondrosis often occurs in children causing varying degrees of discomfort or pain. There are many eponymic types for specific affected areas, such as tarsal navicular (Kohler disease) and tibial tuberosity (Osgood-Schlatter disease)."
+BMGC_DS01807,BMG_DS002267,"MONDO: Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. | MeSH: COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I."
+BMGC_DS01808,BMG_DS002268,"MONDO: Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal. | MeSH: Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (HAJDU-CHENEY SYNDROME), or carpal/tarsal."
+BMGC_DS01809,BMG_DS002270,"ORPHANET: Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. | MONDO: Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. | MeSH: Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (HAJDU-CHENEY SYNDROME), or carpal/tarsal."
+BMGC_DS01810,BMG_DS002273,"MONDO: A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003"
+BMGC_DS01811,BMG_DS002274,"MONDO: An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. | MeSH: INFLAMMATION of the bone as a result of infection. It may be caused by a variety of infectious agents, especially pyogenic (PUS - producing) BACTERIA."
+BMGC_DS01812,BMG_DS002275,"MONDO: A none disease characterized by death of bone tissue due to a lack of blood supply. | MeSH: Death of a bone or part of a bone, either atraumatic or posttraumatic."
+BMGC_DS01813,BMG_DS002276,MeSH: Diseases that affect the METABOLIC PROCESSES of BONE TISSUE.
+BMGC_DS01814,BMG_DS002277,"MONDO: Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. | MeSH: Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY)."
+BMGC_DS01815,BMG_DS002278,"MONDO: A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones. | MeSH: An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)"
+BMGC_DS01816,BMG_DS002279,"MONDO: A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). | MeSH: Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis."
+BMGC_DS01817,BMG_DS002280,"MONDO: Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. | MeSH: Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency."
+BMGC_DS01818,BMG_DS002281,"MeSH: Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis."
+BMGC_DS01819,BMG_DS002283,"MONDO: A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. | MeSH: A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)"
+BMGC_DS01820,BMG_DS002284,MONDO: Abnormally high bone density. | MeSH: An abnormal hardening or increased density of bone tissue.
+BMGC_DS01821,BMG_DS002285,"MONDO: A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia. | MeSH: A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus OSTERTAGIA."
+BMGC_DS01822,BMG_DS002287,
+BMGC_DS01823,BMG_DS002288,
+BMGC_DS01824,BMG_DS002289,
+BMGC_DS01825,BMG_DS002291,
+BMGC_DS01826,BMG_DS002292,
+BMGC_DS01827,BMG_DS002293,
+BMGC_DS01828,BMG_DS002298,
+BMGC_DS01829,BMG_DS002301,NCI: Evidence of other chorea not specified elsewhere.
+BMGC_DS01830,BMG_DS002309,
+BMGC_DS01831,BMG_DS002310,
+BMGC_DS01832,BMG_DS002311,
+BMGC_DS01833,BMG_DS002312,
+BMGC_DS01834,BMG_DS002313,
+BMGC_DS01835,BMG_DS002315,
+BMGC_DS01836,BMG_DS002316,
+BMGC_DS01837,BMG_DS002317,NCI: Evidence of other emphysema not specified elsewhere.
+BMGC_DS01838,BMG_DS002321,
+BMGC_DS01839,BMG_DS002325,
+BMGC_DS01840,BMG_DS002326,
+BMGC_DS01841,BMG_DS002328,
+BMGC_DS01842,BMG_DS002332,
+BMGC_DS01843,BMG_DS002337,
+BMGC_DS01844,BMG_DS002338,
+BMGC_DS01845,BMG_DS002339,
+BMGC_DS01846,BMG_DS002340,
+BMGC_DS01847,BMG_DS002344,
+BMGC_DS01848,BMG_DS002345,
+BMGC_DS01849,BMG_DS002350,
+BMGC_DS01850,BMG_DS002351,
+BMGC_DS01851,BMG_DS002353,
+BMGC_DS01852,BMG_DS002358,
+BMGC_DS01853,BMG_DS002361,
+BMGC_DS01854,BMG_DS002365,
+BMGC_DS01855,BMG_DS002366,
+BMGC_DS01856,BMG_DS002367,
+BMGC_DS01857,BMG_DS002370,NCI: Evidence of other specified hemorrhagic conditions not specified elsewhere.
+BMGC_DS01858,BMG_DS002371,
+BMGC_DS01859,BMG_DS002373,
+BMGC_DS01860,BMG_DS002379,
+BMGC_DS01861,BMG_DS002381,
+BMGC_DS01862,BMG_DS002383,
+BMGC_DS01863,BMG_DS002384,
+BMGC_DS01864,BMG_DS002385,
+BMGC_DS01865,BMG_DS002386,
+BMGC_DS01866,BMG_DS002388,
+BMGC_DS01867,BMG_DS002391,
+BMGC_DS01868,BMG_DS002394,
+BMGC_DS01869,BMG_DS002397,
+BMGC_DS01870,BMG_DS002398,"MeSH: Inflammation of the ear, which may be marked by pain (EARACHE), fever, HEARING DISORDERS, and VERTIGO. Inflammation of the external ear is OTITIS EXTERNA; of the middle ear, OTITIS MEDIA; of the inner ear, LABYRINTHITIS."
+BMGC_DS01871,BMG_DS002399,"MONDO: Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. | MeSH: Inflammation of the OUTER EAR including the external EAR CANAL, cartilages of the auricle (EAR CARTILAGE), and the TYMPANIC MEMBRANE."
+BMGC_DS01872,BMG_DS002400,"MONDO: Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. | MeSH: Inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE."
+BMGC_DS01873,BMG_DS002401,MeSH: Inflammation of the middle ear with a clear pale yellow-colored transudate.
+BMGC_DS01874,BMG_DS002402,MONDO: Inflammation of the middle ear with purulent discharge. | MeSH: Inflammation of the middle ear with purulent discharge.
+BMGC_DS01875,BMG_DS002403,"MONDO: Fungus infection of the external ear, usually by aspergillus species | MeSH: Fungus infection of the external ear, usually by ASPERGILLUS species"
+BMGC_DS01876,BMG_DS002406,MeSH: General term for CYSTS and cystic diseases of the OVARY.
+BMGC_DS01877,BMG_DS002407,MeSH: Pathological processes of the OVARY.
+BMGC_DS01878,BMG_DS002409,MeSH: Infection with nematodes of the superfamily OXYUROIDEA.
+BMGC_DS01879,BMG_DS002411,"MeSH: Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6)"
+BMGC_DS01880,BMG_DS002413,"MONDO: A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva."
+BMGC_DS01881,BMG_DS002415,"HPO: A chronic, relapsing, pustular eruption that is localized to the palms and soles. [https://orcid.org/0000-0002-0736-9199, PMID:23209116] | MeSH: A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis."
+BMGC_DS01882,BMG_DS002417,"MONDO: A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent."
+BMGC_DS01883,BMG_DS002418,"MeSH: A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)"
+BMGC_DS01884,BMG_DS002419,"MONDO: A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. | MeSH: Pathological processes of the PANCREAS."
+BMGC_DS01885,BMG_DS002420,MeSH: Abnormal passage communicating with the PANCREAS.
+BMGC_DS01886,BMG_DS002421,"MONDO: A benign or malignant neoplasm involving the pancreas. | MeSH: Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)."
+BMGC_DS01887,BMG_DS002422,MeSH: Cyst-like space not lined by EPITHELIUM and contained within the PANCREAS. Pancreatic pseudocysts account for most of the cystic collections in the pancreas and are often associated with chronic PANCREATITIS.
+BMGC_DS01888,BMG_DS002423,"MONDO: Inflammation of the pancreas. | MeSH: INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis."
+BMGC_DS01889,BMG_DS002424,"MONDO: A finding of low numbers of red and white blood cells and platelets in the peripheral blood. | MeSH: Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets."
+BMGC_DS01890,BMG_DS002425,"MONDO: An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia. | MeSH: A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait."
+BMGC_DS01891,BMG_DS002426,"MONDO: Inflammation of the subcutaneous adipose tissue. | MeSH: General term for inflammation of adipose tissue, usually of the skin, characterized by reddened subcutaneous nodules."
+BMGC_DS01892,BMG_DS002428,"MONDO: Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. | MeSH: A form of panniculitis characterized by recurrent episodes of fever accompanied by the eruption of single or multiple erythematous subcutaneous nodules on the lower extremities. They normally resolve, but tend to leave depressions in the skin. The condition is most often seen in women, alone or in association with other disorders."
+BMGC_DS01893,BMG_DS002430,"MeSH: General term for inflammation of adipose tissue, usually of the skin, characterized by reddened subcutaneous nodules."
+BMGC_DS01894,BMG_DS002431,MONDO: Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture. | MeSH: Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture.
+BMGC_DS01895,BMG_DS002432,"MONDO: A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. | MeSH: Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved."
+BMGC_DS01896,BMG_DS002433,"MONDO: Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) | MeSH: Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)"
+BMGC_DS01897,BMG_DS002434,"MONDO: A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. | MeSH: A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed)"
+BMGC_DS01898,BMG_DS002435,"MONDO: Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. | MeSH: Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease."
+BMGC_DS01899,BMG_DS002437,MONDO: Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. | MeSH: Influenza-like febrile viral disease caused by several members of the BUNYAVIRIDAE family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.
+BMGC_DS01900,BMG_DS002439,"MONDO: A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones. | MeSH: A mycosis affecting the skin, mucous membranes, lymph nodes, and internal organs. It is caused most often by Paracoccidioides brasiliensis. It is also called paracoccidioidal granuloma."
+BMGC_DS01901,BMG_DS002440,"MONDO: A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. | MeSH: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS01902,BMG_DS002441,MONDO: A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. | MeSH: Infection with TREMATODA of the genus PARAGONIMUS.
+BMGC_DS01903,BMG_DS002442,"MeSH: Persistence of the nuclei of the keratinocytes into the stratum corneum of the skin. This is a normal state only in the epithelium of true mucous membranes in the mouth and vagina. (Dorland, 27th ed)"
+BMGC_DS01904,BMG_DS002443,"MeSH: The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis)."
+BMGC_DS01905,BMG_DS002444,"MONDO: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms. | MeSH: A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)"
+BMGC_DS01906,BMG_DS002445,"MONDO: A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. | MeSH: A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)"
+BMGC_DS01907,BMG_DS002446,"NCI: An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction. | MONDO: An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction. | MeSH: A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM."
+BMGC_DS01908,BMG_DS002447,"MONDO: Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament. | MeSH: Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT."
+BMGC_DS01909,BMG_DS002449,"MONDO: A disease involving the paranasal sinus. | MeSH: Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors."
+BMGC_DS01910,BMG_DS002450,MONDO: A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. | MeSH: Tumors or cancer of the PARANASAL SINUSES.
+BMGC_DS01911,BMG_DS002451,"MONDO: A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. | MeSH: In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products."
+BMGC_DS01912,BMG_DS002452,"MONDO: A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted. | MeSH: A personality disorder characterized by the avoidance of accepting deserved blame and an unwarranted view of others as malevolent. The latter is expressed as suspiciousness, hypersensitivity, and mistrust."
+BMGC_DS01913,BMG_DS002453,"MONDO: Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. | MeSH: A subacute paralytic myeloneuropathy occurring endemically in tropical areas such as the Caribbean, Colombia, India, and Africa, as well as in the southwestern region of Japan; associated with infection by HUMAN T-CELL LEUKEMIA VIRUS I. Clinical manifestations include a slowly progressive spastic weakness of the legs, increased reflexes, Babinski signs, incontinence, and loss of vibratory and position sensation. On pathologic examination inflammatory, demyelination, and necrotic lesions may be found in the spinal cord. (Adams et al., Principles of Neurology, 6th ed, p1239)"
+BMGC_DS01914,BMG_DS002455,"MONDO: A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene. | MeSH: A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis."
+BMGC_DS01915,BMG_DS002456,"MONDO: Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. | MeSH: Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness."
+BMGC_DS01916,BMG_DS002458,"MONDO: Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids. | MeSH: The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis)."
+BMGC_DS01917,BMG_DS002459,"MONDO: A successful invasion of a host by an organism that uses the host for food and shelter. | MeSH: Infections or infestations with PARASITES. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure."
+BMGC_DS01918,BMG_DS002460,MONDO: Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary. | MeSH: Animal diseases caused by PARASITES.
+BMGC_DS01919,BMG_DS002461,"MeSH: Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191)"
+BMGC_DS01920,BMG_DS002462,MeSH: Pathological processes of the PARATHYROID GLANDS. They usually manifest as hypersecretion or hyposecretion of PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.
+BMGC_DS01921,BMG_DS002463,MONDO: A neoplasm (disease) that involves the parathyroid gland. | MeSH: Tumors or cancer of the PARATHYROID GLANDS.
+BMGC_DS01922,BMG_DS002464,MONDO: A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis. | MeSH: A chronic GASTROENTERITIS in RUMINANTS caused by MYCOBACTERIUM AVIUM SUBSPECIES PARATUBERCULOSIS.
+BMGC_DS01923,BMG_DS002465,MONDO: A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi. | MeSH: A prolonged febrile illness commonly caused by several Paratyphi serotypes of SALMONELLA ENTERICA. It is similar to TYPHOID FEVER but less severe.
+BMGC_DS01924,BMG_DS002466,"MeSH: A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). General paresis and general paralysis may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS."
+BMGC_DS01925,BMG_DS002467,"MeSH: Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation."
+BMGC_DS01926,BMG_DS002468,"MONDO: A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. | MeSH: A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)"
+BMGC_DS01927,BMG_DS002469,"MONDO: A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism. | MeSH: Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)"
+BMGC_DS01928,BMG_DS002470,"MONDO: A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication. | MeSH: Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)"
+BMGC_DS01929,BMG_DS002471,"MONDO: An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans. | MeSH: An inflammatory reaction involving the folds of the skin surrounding the fingernail. It is characterized by acute or chronic purulent, tender, and painful swellings of the tissues around the nail, caused by an abscess of the nail fold. The pathogenic yeast causing paronychia is most frequently Candida albicans. Saprophytic fungi may also be involved. The causative bacteria are usually Staphylococcus, Pseudomonas aeruginosa, or Streptococcus. (Andrews' Diseases of the Skin, 8th ed, p271)"
+BMGC_DS01930,BMG_DS002472,MONDO: A disease involving the parotid gland. | MeSH: Diseases involving the PAROTID GLAND.
+BMGC_DS01931,BMG_DS002474,MONDO: Inflammation of the parotid glands. | MeSH: INFLAMMATION of the PAROTID GLAND.
+BMGC_DS01932,BMG_DS002475,"MONDO: A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). | MeSH: A cyst (CYSTS) near the OVARY, derived from anomalies of the FALLOPIAN TUBES or the BROAD LIGAMENT. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni)."
+BMGC_DS01933,BMG_DS002476,
+BMGC_DS01934,BMG_DS002477,
+BMGC_DS01935,BMG_DS002479,"MONDO: An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders. | MeSH: Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata."
+BMGC_DS01936,BMG_DS002481,"MeSH: Fetal and neonatal addiction and withdrawal as a result of the mother's dependence on drugs during pregnancy. Withdrawal or abstinence symptoms develop shortly after birth. Symptoms exhibited are loud, high-pitched crying, sweating, yawning and gastrointestinal disturbances."
+BMGC_DS01937,BMG_DS002482,MONDO: Infections with bacteria of the genus pasteurella. | MeSH: Infections with bacteria of the genus PASTEURELLA.
+BMGC_DS01938,BMG_DS002483,"NCI: A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity. | MONDO: A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity."
+BMGC_DS01939,BMG_DS002484,"MONDO: A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. | MeSH: Parasitic attack or subsistence on the skin by members of the order Phthiraptera, especially on humans by Pediculus humanus of the family Pediculidae. The hair of the head, eyelashes, and pubis is a frequent site of infestation. (From Dorland, 28th ed; Stedman, 26th ed)"
+BMGC_DS01940,BMG_DS002485,"HPO: Visualization of at least one louse on visual inspection of the head hair. Use of a bright light, magnifying lens, or fine-toothed comb (lice comb) can aid in diagnosis. [PMID:29262055] | MONDO: A infectious disease involving Pediculus humanus capitis."
+BMGC_DS01941,BMG_DS002486,MONDO: A infectious disease involving the Pediculus humanus corporis.
+BMGC_DS01942,BMG_DS002487,"MONDO: Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects."
+BMGC_DS01943,BMG_DS002489,"MONDO: An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. | MeSH: Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures."
+BMGC_DS01944,BMG_DS002490,MONDO: A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs. | MeSH: A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs.
+BMGC_DS01945,BMG_DS002491,"MONDO: Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management. | MeSH: A disease due to deficiency of NIACIN, a B-complex vitamin, or its precursor TRYPTOPHAN. It is characterized by scaly DERMATITIS which is often associated with DIARRHEA and DEMENTIA (the three D's)."
+BMGC_DS01946,BMG_DS002492,NCI: An abscess that is located in the pelvic cavity.
+BMGC_DS01947,BMG_DS002493,MeSH: Infection involving the tissues or organs in the PELVIS.
+BMGC_DS01948,BMG_DS002494,"MONDO: Mucous membrane pemphigoid is a bullous dermatosis characterized clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane. | MeSH: A chronic blistering disease with predilection for mucous membranes and less frequently the skin, and with a tendency to scarring. It is sometimes called ocular pemphigoid because of conjunctival mucous membrane involvement."
+BMGC_DS01949,BMG_DS002495,MONDO: Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis. | MeSH: A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis.
+BMGC_DS01950,BMG_DS002496,"MONDO: Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus | MeSH: Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS."
+BMGC_DS01951,BMG_DS002497,"ORPHANET: A rare autoimmune bullous skin diseases characterized by painful, flaccid blisters and erosions of the oral mucosa, predominantly involving the buccal area, and with or without extension to the epidermis. Mucosa of the larynx, oesophagus, conjunctiva, nose, genitalia and anus, are less frequently affected. | MONDO: Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%). | MeSH: Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS."
+BMGC_DS01952,BMG_DS002499,"MONDO: A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. | MeSH: Pathological processes involving the PENIS or its component tissues."
+BMGC_DS01953,BMG_DS002500,"MONDO: A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both. | MeSH: A condition characterized by hardening of the PENIS due to the formation of fibrous plaques on the dorsolateral aspect of the PENIS, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both."
+BMGC_DS01954,BMG_DS002501,"MONDO: A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma. | MeSH: Cancers or tumors of the PENIS or of its component tissues."
+BMGC_DS01955,BMG_DS002502,MONDO: A digestive system disease characterized by discontinuation in the inner lining of the gastrointestinal (GI) tract because of gastric acid secretion or pepsin. | MeSH: Ulcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects in the MUCOSA barrier. The common forms of peptic ulcers are associated with HELICOBACTER PYLORI and the consumption of nonsteroidal anti-inflammatory drugs (NSAIDS).
+BMGC_DS01956,BMG_DS002503,MONDO: Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity. | MeSH: Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY.
+BMGC_DS01957,BMG_DS002506,"MONDO: Localized collection of pus in the tissues that enclose the root of a tooth. | MeSH: Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)"
+BMGC_DS01958,BMG_DS002508,MONDO: Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment. | MeSH: Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.
+BMGC_DS01959,BMG_DS002509,"MONDO: Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess. | MeSH: Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS."
+BMGC_DS01960,BMG_DS002512,"MONDO: Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney. | MeSH: A form of necrotizing non-granulomatous inflammation occurring primarily in medium-sized ARTERIES, often with microaneurysms. It is characterized by muscle, joint, and abdominal pain resulting from arterial infarction and scarring in affected organs. Polyarteritis nodosa with lung involvement is called CHURG-STRAUSS SYNDROME."
+BMGC_DS01961,BMG_DS002513,"MONDO: Inflammation of the tissues around a joint. (Dorland, 27th ed) | MeSH: Inflammation of the tissues around a joint. (Dorland, 27th ed)"
+BMGC_DS01962,BMG_DS002514,"MONDO: Fluid collection within the pericardial sac, usually due to inflammation. | MeSH: Fluid accumulation within the PERICARDIUM. Serous effusions are associated with pericardial diseases. Hemopericardium is associated with trauma. Lipid-containing effusion (chylopericardium) results from leakage of THORACIC DUCT. Severe cases can lead to CARDIAC TAMPONADE."
+BMGC_DS01963,BMG_DS002515,"MONDO: An inflammatory process affecting the pericardium. | MeSH: Inflammation of the PERICARDIUM from various origins, such as infection, neoplasm, autoimmune process, injuries, or drug-induced. Pericarditis usually leads to PERICARDIAL EFFUSION, or CONSTRICTIVE PERICARDITIS."
+BMGC_DS01964,BMG_DS002516,"MONDO: A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function. | MeSH: Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS."
+BMGC_DS01965,BMG_DS002518,"MeSH: Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)"
+BMGC_DS01966,BMG_DS002519,NCI: Inflammation of the tissue surrounding the biliary ducts. | MONDO: Inflammation of the tissue surrounding the biliary ducts.
+BMGC_DS01967,BMG_DS002521,MONDO: Inflammation of the gingiva surrounding the crown of a tooth. | MeSH: Inflammation of the gingiva surrounding the crown of a tooth.
+BMGC_DS01968,BMG_DS002522,MONDO: Inflammation of the connective and adipose tissues surrounding the kidney. | MeSH: Inflammation of the connective and adipose tissues surrounding the KIDNEY.
+BMGC_DS01969,BMG_DS002523,"MONDO: Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. | MeSH: A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene."
+BMGC_DS01970,BMG_DS002525,"MONDO: An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support. | MeSH: Pathological processes involving the PERIODONTIUM including the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, and the PERIODONTAL LIGAMENT."
+BMGC_DS01971,BMG_DS002526,"MONDO: An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. | MeSH: Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)"
+BMGC_DS01972,BMG_DS002527,"MeSH: Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people."
+BMGC_DS01973,BMG_DS002528,"MONDO: Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) | MeSH: Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed)"
+BMGC_DS01974,BMG_DS002529,
+BMGC_DS01975,BMG_DS002530,"NCI: A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. | MONDO: A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs."
+BMGC_DS01976,BMG_DS002531,MONDO: A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.
+BMGC_DS01977,BMG_DS002534,"MeSH: Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)."
+BMGC_DS01978,BMG_DS002537,"MONDO: A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. | MeSH: Tumors or cancer of the PERITONEUM."
+BMGC_DS01979,BMG_DS002538,"MONDO: Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. | MeSH: INFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERITONEAL CAVITY via hematogenous or lymphatic spread and without intra-abdominal source. Secondary peritonitis arises from the ABDOMINAL CAVITY itself through RUPTURE or ABSCESS of intra-abdominal organs."
+BMGC_DS01980,BMG_DS002539,MONDO: An abscess that develops in the space surrounding one or both palatine tonsils. | MeSH: An accumulation of purulent material in the area between the PALATINE TONSIL and its capsule.
+BMGC_DS01981,BMG_DS002542,"MONDO: A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. | MeSH: A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)."
+BMGC_DS01982,BMG_DS002545,"MONDO: Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. | MeSH: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits."
+BMGC_DS01983,BMG_DS002546,MONDO: Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. | MeSH: Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.
+BMGC_DS01984,BMG_DS002547,MONDO: A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. | MeSH: Pathological processes involving the PHARYNX.
+BMGC_DS01985,BMG_DS002548,MONDO: A neoplasm (disease) that involves the pharynx. | MeSH: Tumors or cancer of the PHARYNX.
+BMGC_DS01986,BMG_DS002549,"MONDO: Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. | MeSH: Inflammation of the throat (PHARYNX)."
+BMGC_DS01987,BMG_DS002550,"NCI: A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus. | MONDO: A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus. | MeSH: Respiratory and conjunctival infections caused by 33 identified serotypes of human adenoviruses."
+BMGC_DS01988,BMG_DS002551,MONDO: The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning. | MeSH: The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.
+BMGC_DS01989,BMG_DS002552,"MONDO: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. | MeSH: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952)."
+BMGC_DS01990,BMG_DS002553,"MeSH: A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)"
+BMGC_DS01991,BMG_DS002554,MeSH: A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening.
+BMGC_DS01992,BMG_DS002555,"MONDO: Inflammation of a vein. | MeSH: Inflammation of a vein, often a vein in the leg. Phlebitis associated with a blood clot is called (THROMBOPHLEBITIS)."
+BMGC_DS01993,BMG_DS002556,MeSH: Inflammation of a vein associated with a blood clot (THROMBUS).
+BMGC_DS01994,BMG_DS002557,"NCI: An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. | MONDO: An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable."
+BMGC_DS01995,BMG_DS002558,"MONDO: A metabolic disorder that affects the phosphate homeostasis. | MeSH: Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization."
+BMGC_DS01996,BMG_DS002559,"NCI: A red, edematous rash that occurs on areas of the skin with recent exposure to sunlight."
+BMGC_DS01997,BMG_DS002560,"MONDO: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. | MeSH: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy."
+BMGC_DS01998,BMG_DS002562,MONDO: An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development. | MeSH: The persistent eating of non-nutritive substances for a period of at least one month.
+BMGC_DS01999,BMG_DS002563,"MeSH: Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS."
+BMGC_DS02000,BMG_DS002564,MONDO: Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately. | MeSH: HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately.
+BMGC_DS02001,BMG_DS002566,"MONDO: Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species. | MeSH: Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species."
+BMGC_DS02002,BMG_DS002567,"MONDO: Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft. | MeSH: Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome."
+BMGC_DS02003,BMG_DS002569,"MONDO: A hair-containing cyst or sinus, occurring chiefly in the coccygeal region. | MeSH: A hair-containing cyst or sinus, occurring chiefly in the coccygeal region."
+BMGC_DS02004,BMG_DS002570,"MeSH: Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670)"
+BMGC_DS02005,BMG_DS002571,"MONDO: An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes. | MeSH: An infectious disease of the skin caused by Treponema carateum that occurs only in the western hemisphere. Age of onset is between 10 and 20 years of age. This condition is characterized by marked changes in the skin color and is believed to be transmitted by direct person-to-person contact."
+BMGC_DS02006,BMG_DS002572,"HPO: A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). [https://orcid.org/0000-0002-0538-4547, PMID:32119338] | MONDO: A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss."
+BMGC_DS02007,BMG_DS002573,"MONDO: A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction. | MeSH: The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA."
+BMGC_DS02008,BMG_DS002574,MONDO: A disease involving the pituitary gland. | MeSH: Disorders involving either the ADENOHYPOPHYSIS or the NEUROHYPOPHYSIS. These diseases usually manifest as hypersecretion or hyposecretion of PITUITARY HORMONES. Neoplastic pituitary masses can also cause compression of the OPTIC CHIASM and other adjacent structures.
+BMGC_DS02009,BMG_DS002575,"MONDO: A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. | MeSH: Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA."
+BMGC_DS02010,BMG_DS002576,"MONDO: OBSOLETE. A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed) | MeSH: A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)"
+BMGC_DS02011,BMG_DS002577,"MONDO: A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated. | MeSH: A mild exanthematous inflammation of unknown etiology. It is characterized by the presence of salmon-colored maculopapular lesions. The most striking feature is the arrangement of the lesions such that the long axis is parallel to the lines of cleavage. The eruptions are usually generalized, affecting chiefly the trunk, and the course is often self-limiting."
+BMGC_DS02012,BMG_DS002578,"MONDO: A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). | MeSH: A chronic skin disease characterized by small follicular papules, disseminated reddish-brown scaly patches, and often, palmoplantar hyperkeratosis. The papules are about the size of a pin and topped by a horny plug."
+BMGC_DS02013,BMG_DS002579,MONDO: The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize) | MeSH: Abnormal placentation in which all or parts of the PLACENTA are attached directly to the MYOMETRIUM due to a complete or partial absence of DECIDUA. It is associated with POSTPARTUM HEMORRHAGE because of the failure of placental separation.
+BMGC_DS02014,BMG_DS002580,MONDO: A disease involving the placenta. | MeSH: Pathological processes or abnormal functions of the PLACENTA.
+BMGC_DS02015,BMG_DS002581,MONDO: Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor.
+BMGC_DS02016,BMG_DS002582,MONDO: Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus. | MeSH: Failure of the PLACENTA to deliver an adequate supply of nutrients and OXYGEN to the FETUS.
+BMGC_DS02017,BMG_DS002584,"MONDO: Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis. | MeSH: An acute infectious disease caused by YERSINIA PESTIS that affects humans, wild rodents, and their ectoparasites. This condition persists due to its firm entrenchment in sylvatic rodent-flea ecosystems throughout the world. Bubonic plague is the most common form."
+BMGC_DS02018,BMG_DS002587,"MONDO: Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations. | MeSH: Any discrete, presumably solitary, mass of neoplastic PLASMA CELLS either in BONE MARROW or various extramedullary sites."
+BMGC_DS02019,BMG_DS002588,"MONDO: Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. | MeSH: Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored."
+BMGC_DS02020,BMG_DS002589,"MONDO: A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor. | MeSH: Diseases involving the PLEURA."
+BMGC_DS02021,BMG_DS002590,MONDO: A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura. | MeSH: Neoplasms of the thin serous membrane that envelopes the lungs and lines the thoracic cavity. Pleural neoplasms are exceedingly rare and are usually not diagnosed until they are advanced because in the early stages they produce no symptoms.
+BMGC_DS02022,BMG_DS002591,"MONDO: Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. | MeSH: INFLAMMATION of PLEURA, the lining of the LUNG. When PARIETAL PLEURA is involved, there is pleuritic CHEST PAIN."
+BMGC_DS02023,BMG_DS002592,"MONDO: An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. | MeSH: An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses."
+BMGC_DS02024,BMG_DS002593,"MONDO: Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura. | MeSH: Inflammation of the lung parenchyma that is associated with PLEURISY, inflammation of the PLEURA."
+BMGC_DS02025,BMG_DS002596,"MONDO: The presence of gas within the wall of the large or small intestine. | MeSH: A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM."
+BMGC_DS02026,BMG_DS002598,MONDO: Infections with bacteria of the species streptococcus pneumoniae. | MeSH: Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.
+BMGC_DS02027,BMG_DS002599,"MONDO: An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis. | MeSH: A diffuse parenchymal lung disease caused by inhalation of dust and by tissue reaction to their presence. These inorganic, organic, particulate, or vaporized matters usually are inhaled by workers in their occupational environment, leading to the various forms (ASBESTOSIS; BYSSINOSIS; and others). Similar air pollution can also have deleterious effects on the general population."
+BMGC_DS02028,BMG_DS002601,"MONDO: An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. | MeSH: Infection of the lung often accompanied by inflammation."
+BMGC_DS02029,BMG_DS002603,"MONDO: A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract. | MeSH: A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT."
+BMGC_DS02030,BMG_DS002605,MONDO: Pneumonia due to aspiration or inhalation of various oily or fatty substances. | MeSH: Pneumonia due to aspiration or inhalation of various oily or fatty substances or otherwise accumulation of endogenous lipid substances in the PULMONARY ALVEOLI.
+BMGC_DS02031,BMG_DS002606,MeSH: Infection of the lung often accompanied by inflammation.
+BMGC_DS02032,BMG_DS002607,"MONDO: Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar. | MeSH: Interstitial pneumonia caused by extensive infection of the lungs (LUNG) and BRONCHI, particularly the lower lobes of the lungs, by MYCOPLASMA PNEUMONIAE in humans. In SHEEP, it is caused by MYCOPLASMA OVIPNEUMONIAE. In CATTLE, it may be caused by MYCOPLASMA DISPAR."
+BMGC_DS02033,BMG_DS002610,"MONDO: Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus. | MeSH: Pneumonia caused by infections with bacteria of the genus STAPHYLOCOCCUS, usually with STAPHYLOCOCCUS AUREUS."
+BMGC_DS02034,BMG_DS002611,MONDO: Inflammation of the lung parenchyma that is caused by a viral infection. | MeSH: Inflammation of the lung parenchyma that is caused by a viral infection.
+BMGC_DS02035,BMG_DS002612,MeSH: Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins.
+BMGC_DS02036,BMG_DS002614,"MONDO: Abnormal presence of air in the pleural cavity. | MeSH: An accumulation of air or gas in the PLEURAL CAVITY, which may occur spontaneously or as a result of trauma or a pathological process. The gas may also be introduced deliberately during PNEUMOTHORAX, ARTIFICIAL."
+BMGC_DS02037,BMG_DS002615,"MONDO: Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers."
+BMGC_DS02038,BMG_DS002616,"MONDO: An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed) | MeSH: An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed)"
+BMGC_DS02039,BMG_DS002617,"MONDO: Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. | MeSH: A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major."
+BMGC_DS02040,BMG_DS002618,"MONDO: An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. | MeSH: An acute infectious disease of humans, particularly children, caused by any of three serotypes of human poliovirus (POLIOVIRUS). Usually the infection is limited to the gastrointestinal tract and nasopharynx, and is often asymptomatic. The central nervous system, primarily the spinal cord, may be affected, leading to rapidly progressive paralysis, coarse FASCICULATION and hyporeflexia. Motor neurons are primarily affected. Encephalitis may also occur. The virus replicates in the nervous system, and may cause significant neuronal loss, most notably in the spinal cord. A rare related condition, nonpoliovirus poliomyelitis, may result from infections with nonpoliovirus enteroviruses. (From Adams et al., Principles of Neurology, 6th ed, pp764-5)"
+BMGC_DS02041,BMG_DS002620,"MONDO: A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. | MeSH: An acquired disease of unknown etiology, chronic course, and tendency to recur. It is characterized by inflammation and degeneration of cartilage and can result in deformities such as floppy ear and saddle nose. Loss of cartilage in the respiratory tract can lead to respiratory obstruction."
+BMGC_DS02042,BMG_DS002621,"MONDO: A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. | MeSH: A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading."
+BMGC_DS02043,BMG_DS002622,"MONDO: Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. | MeSH: An increase in the total red cell mass of the blood. (Dorland, 27th ed)"
+BMGC_DS02044,BMG_DS002623,"MONDO: Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. | MeSH: A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs."
+BMGC_DS02045,BMG_DS002624,HPO: Frequent menses; menstrual cycles lasting less than 21 days. [PMID:22594864] | MeSH: Variations of MENSTRUATION which may be indicative of disease.
+BMGC_DS02046,BMG_DS002625,"MONDO: A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression. | MeSH: A syndrome in the elderly characterized by proximal joint and muscle pain, high erythrocyte sedimentation rate, and a self-limiting course. Pain is usually accompanied by evidence of an inflammatory reaction. Women are affected twice as commonly as men and Caucasians more frequently than other groups. The condition is frequently associated with GIANT CELL ARTERITIS and some theories pose the possibility that the two diseases arise from a single etiology or even that they are the same entity."
+BMGC_DS02047,BMG_DS002626,MONDO: Inflammation of several peripheral nerves. | MeSH: A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA.
+BMGC_DS02048,BMG_DS002628,"MONDO: Chromosomal disorder in which the chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. | MeSH: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc."
+BMGC_DS02049,BMG_DS002629,"MONDO: Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. | MeSH: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood."
+BMGC_DS02050,BMG_DS002630,"MONDO: A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. | MeSH: Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base."
+BMGC_DS02051,BMG_DS002631,MONDO: A radiculopathy that is present in more than one nerve. | MeSH: Disease or injury involving multiple SPINAL NERVE ROOTS. Polyradiculitis refers to inflammation of multiple spinal nerve roots.
+BMGC_DS02052,BMG_DS002632,"MONDO: Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots. | MeSH: Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots."
+BMGC_DS02053,BMG_DS002633,"MONDO: A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) | MeSH: A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)"
+BMGC_DS02054,BMG_DS002634,"MONDO: A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint. | MeSH: A SYNOVIAL CYST located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint."
+BMGC_DS02055,BMG_DS002636,MONDO: A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.
+BMGC_DS02056,BMG_DS002639,"MONDO: Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies. | MeSH: Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (DUMPING SYNDROME and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies."
+BMGC_DS02057,BMG_DS002640,
+BMGC_DS02058,BMG_DS002643,"MONDO: A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing. | MeSH: A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous VARICOSE VEINS are usually present. Leg pain may occur after long period of standing."
+BMGC_DS02059,BMG_DS002649,"MONDO: Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. | MeSH: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)"
+BMGC_DS02060,BMG_DS002650,"MONDO: Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. | MeSH: A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease."
+BMGC_DS02061,BMG_DS002654,"MeSH: Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases."
+BMGC_DS02062,BMG_DS002655,MeSH: The co-occurrence of pregnancy and a cardiovascular disease. The disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.
+BMGC_DS02063,BMG_DS002656,MeSH: The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.
+BMGC_DS02064,BMG_DS002657,MeSH: The co-occurrence of pregnancy and an INFECTION. The infection may precede or follow FERTILIZATION.
+BMGC_DS02065,BMG_DS002660,"MONDO: An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. | MeSH: A potentially life-threatening condition in which EMBRYO IMPLANTATION occurs outside the cavity of the UTERUS. Most ectopic pregnancies (>96%) occur in the FALLOPIAN TUBES, known as TUBAL PREGNANCY. They can be in other locations, such as UTERINE CERVIX; OVARY; and abdominal cavity (PREGNANCY, ABDOMINAL)."
+BMGC_DS02066,BMG_DS002663,MeSH: A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. The ectopic signals may or may not conduct to the HEART VENTRICLES. Atrial premature complexes are characterized by premature P waves on ECG which are different in configuration from the P waves generated by the normal pacemaker complex in the SINOATRIAL NODE.
+BMGC_DS02067,BMG_DS002664,NCI: A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it. | MONDO: A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it.
+BMGC_DS02068,BMG_DS002667,MONDO: The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation. | MeSH: The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.
+BMGC_DS02069,BMG_DS002669,"MONDO: Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. | MeSH: A prolonged painful erection that may lasts hours and is not associated with sexual activity. It is seen in patients with SICKLE CELL ANEMIA, advanced malignancy, spinal trauma; and certain drug treatments."
+BMGC_DS02070,BMG_DS002671,"MONDO: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. | MeSH: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked."
+BMGC_DS02071,BMG_DS002672,"NCI: A sleep disorder characterized by difficulty initiating or maintaining sleep; this difficulty does not occur in the context of another sleep disorder and is not etiologically linked to a mental disorder, substance use, or a general medical condition. | MeSH: Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition."
+BMGC_DS02072,BMG_DS002673,"NCI: A disease of the heart muscle or myocardium proper whose cause is unknown. | MONDO: A disease of the heart muscle or myocardium proper whose cause is unknown. | MeSH: A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)."
+BMGC_DS02073,BMG_DS002674,"MONDO: An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. | MeSH: INFLAMMATION of the MUCOUS MEMBRANE of the RECTUM, the distal end of the large intestine (INTESTINE, LARGE)."
+BMGC_DS02074,BMG_DS002678,"MONDO: Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). | MeSH: An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature graying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA."
+BMGC_DS02075,BMG_DS002680,"MONDO: Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. | MeSH: A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA."
+BMGC_DS02076,BMG_DS002682,MONDO: A disease involving the prostate gland. | MeSH: Pathological processes involving the PROSTATE or its component tissues.
+BMGC_DS02077,BMG_DS002683,MONDO: A neoplasm (disease) that involves the prostate gland. | MeSH: Tumors or cancer of the PROSTATE.
+BMGC_DS02078,BMG_DS002685,MONDO: An infectious or non-infectious inflammatory process affecting the prostate gland.
+BMGC_DS02079,BMG_DS002686,"MeSH: Malfunction of implantation shunts, valves, etc., and prosthesis loosening, migration, and breaking."
+BMGC_DS02080,BMG_DS002687,"MeSH: A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406)"
+BMGC_DS02081,BMG_DS002688,"MONDO: A nutritional deficit that is caused by inadequate protein or calorie intake. | MeSH: The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses."
+BMGC_DS02082,BMG_DS002689,"MONDO: Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine. | MeSH: Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE."
+BMGC_DS02083,BMG_DS002690,"MONDO: The presence of abnormal amounts of protein in the urine. | MeSH: The presence of proteins in the urine, an indicator of KIDNEY DISEASES."
+BMGC_DS02084,BMG_DS002691,MONDO: Infections with bacteria of the genus proteus. | MeSH: Infections with bacteria of the genus PROTEUS.
+BMGC_DS02085,BMG_DS002693,MONDO: An infection that is caused by protozoans. | MeSH: Infections with unicellular organisms formerly members of the subkingdom Protozoa.
+BMGC_DS02086,BMG_DS002695,"MONDO: Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. | MeSH: A syndrome characterized by abdominal wall musculature deficiency, cryptorchism, and urinary tract abnormalities. The syndrome derives its name from its characteristic distended abdomen with wrinkled skin."
+BMGC_DS02087,BMG_DS002698,"ORPHANET: Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. | MONDO: Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. | MeSH: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)"
+BMGC_DS02088,BMG_DS002699,"MONDO: A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes. | MeSH: A syndrome characterized by DYSARTHRIA, dysphagia, dysphonia, impairment of voluntary movements of tongue and facial muscles, and emotional lability. This condition is caused by diseases that affect the motor fibers that travel from the cerebral cortex to the lower BRAIN STEM (i.e., corticobulbar tracts); including MULTIPLE SCLEROSIS; MOTOR NEURON DISEASE; and CEREBROVASCULAR DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, p489)"
+BMGC_DS02089,BMG_DS002701,
+BMGC_DS02090,BMG_DS002702,MONDO: A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex.
+BMGC_DS02091,BMG_DS002703,"MONDO: An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. | MeSH: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION."
+BMGC_DS02092,BMG_DS002704,"MONDO: Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). | MeSH: A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN."
+BMGC_DS02093,BMG_DS002705,MONDO: Infections with bacteria of the genus pseudomonas. | MeSH: Infections with bacteria of the genus PSEUDOMONAS.
+BMGC_DS02094,BMG_DS002706,MONDO: Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. | MeSH: A peritoneal adenocarcinoma characterized by build-up of MUCUS in the PERITONEAL CAVITY. Mucus secreting cells may attach to the peritoneal lining and continue to secrete mucus. The majority of cases represent tumor spread from a primary low-grade mucinous neoplasm of the APPENDIX (NCI Thesaurus).
+BMGC_DS02095,BMG_DS002707,"MONDO: A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). | MeSH: A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN."
+BMGC_DS02096,BMG_DS002708,"NCI: A chronic, benign, inflammatory condition that is characterized by the swelling of lymph node in the head and neck. | MONDO: Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease. | MeSH: A chronic inflammatory disease characterized by benign enlargement of cervical LYMPH NODE and SALIVARY GLANDS with increased levels of IMMUNOGLOBULIN E. Unlike ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA it involves eosinophil infiltrates in lymph node and salivary glands and mostly found in Asian males."
+BMGC_DS02097,BMG_DS002710,"MONDO: Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible. | MeSH: A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)."
+BMGC_DS02098,BMG_DS002711,"MONDO: An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. | MeSH: An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE."
+BMGC_DS02099,BMG_DS002712,"MONDO: An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. | MeSH: A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis."
+BMGC_DS02100,BMG_DS002713,"MeSH: A common primary headache disorder, characterized by a dull, non-pulsatile, diffuse, band-like (or vice-like) PAIN of mild to moderate intensity in the HEAD; SCALP; or NECK. The subtypes are classified by frequency and severity of symptoms. There is no clear cause even though it has been associated with MUSCLE CONTRACTION and stress. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS02101,BMG_DS002714,MONDO: A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol. | MeSH: A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.
+BMGC_DS02102,BMG_DS002715,MONDO: Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.
+BMGC_DS02103,BMG_DS002717,NCI: A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse.
+BMGC_DS02104,BMG_DS002718,NCI: Persistent delay or absence in orgasm not accounted for by a medical reason. | MONDO: Persistent delay or absence in orgasm not accounted for by a medical reason.
+BMGC_DS02105,BMG_DS002719,
+BMGC_DS02106,BMG_DS002721,"MONDO: An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities."
+BMGC_DS02107,BMG_DS002722,"HPO: Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. [https://orcid.org/0000-0002-0736-9199] | MONDO: A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder."
+BMGC_DS02108,BMG_DS002723,"MONDO: Unusually early sexual maturity. | MeSH: Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE."
+BMGC_DS02109,BMG_DS002724,"MONDO: Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. | MeSH: Disorders or diseases associated with PUERPERIUM, the six-to-eight-week period immediately after PARTURITION in humans."
+BMGC_DS02110,BMG_DS002725,"MONDO: An infection occurring in puerperium, the period of 6-8 weeks after giving birth. | MeSH: An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth."
+BMGC_DS02111,BMG_DS002727,"MeSH: A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR."
+BMGC_DS02112,BMG_DS002728,"MONDO: Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure). | MeSH: Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening."
+BMGC_DS02113,BMG_DS002729,"MONDO: The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. | MeSH: Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS."
+BMGC_DS02114,BMG_DS002730,
+BMGC_DS02115,BMG_DS002731,"MONDO: A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. | MeSH: Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions."
+BMGC_DS02116,BMG_DS002732,"MONDO: A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents. | MeSH: A condition characterized by infiltration of the lung with EOSINOPHILS due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents."
+BMGC_DS02117,BMG_DS002733,"MONDO: Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). | MeSH: A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death."
+BMGC_DS02118,BMG_DS002734,"MONDO: Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. | MeSH: Hypertrophy and dilation of the RIGHT VENTRICLE of the heart that is caused by PULMONARY HYPERTENSION. This condition is often associated with pulmonary parenchymal or vascular diseases, such as CHRONIC OBSTRUCTIVE PULMONARY DISEASE and PULMONARY EMBOLISM."
+BMGC_DS02119,BMG_DS002735,"NCI: Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism. | MONDO: Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism. | MeSH: NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung."
+BMGC_DS02120,BMG_DS002736,"MONDO: The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies. | MeSH: Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort."
+BMGC_DS02121,BMG_DS002737,NCI: A heart disorder characterized by a defect in pulmonary valve structure or function. | MONDO: A disease involving the pulmonary valve.
+BMGC_DS02122,BMG_DS002738,MONDO: Dysfunction of the pulmonary valve characterized by incomplete valve closure. | MeSH: Backflow of blood from the PULMONARY ARTERY into the RIGHT VENTRICLE due to imperfect closure of the PULMONARY VALVE.
+BMGC_DS02123,BMG_DS002739,"MONDO: The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. | MONDO: A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow). | MeSH: The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete."
+BMGC_DS02124,BMG_DS002740,"MONDO: A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. | MeSH: Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both."
+BMGC_DS02125,BMG_DS002741,NCI: Deterioration of the normal pulp tissue. | MONDO: Deterioration of the normal pulp tissue.
+BMGC_DS02126,BMG_DS002742,"MONDO: Inflammation of the dental pulp. | MeSH: Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis."
+BMGC_DS02127,BMG_DS002743,"MONDO: A disease involving the pupil. | MeSH: Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes."
+BMGC_DS02128,BMG_DS002744,MeSH: Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.
+BMGC_DS02129,BMG_DS002745,"MONDO: A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. | MeSH: Purplish or brownish red discoloration, easily visible through the epidermis, caused by hemorrhage into the tissues. When the size of the discolorization is >2-3 cm it is generally called Ecchymoses (ECCHYMOSIS)."
+BMGC_DS02130,BMG_DS002746,"MONDO: Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years. | MeSH: Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years."
+BMGC_DS02131,BMG_DS002747,"MONDO: A systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. | MeSH: A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections."
+BMGC_DS02132,BMG_DS002748,"MONDO: Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. | MeSH: An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases."
+BMGC_DS02133,BMG_DS002749,"MONDO: Inflammation of the renal pelvis. | MeSH: Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed."
+BMGC_DS02134,BMG_DS002751,"MONDO: An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. | MeSH: Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA."
+BMGC_DS02135,BMG_DS002752,"MONDO: Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. | MeSH: A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES."
+BMGC_DS02136,BMG_DS002754,"MONDO: Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. | MeSH: Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants."
+BMGC_DS02137,BMG_DS002755,"MONDO: Any skin disease that is pyegenic. | MeSH: Any purulent skin disease (Dorland, 27th ed)."
+BMGC_DS02138,BMG_DS002759,"NCI: The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain. | MONDO: The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain."
+BMGC_DS02139,BMG_DS002760,NCI: An abscess that is located in the ureter. | MONDO: An abscess that is located in the ureter.
+BMGC_DS02140,BMG_DS002761,"MONDO: Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. | MeSH: An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)"
+BMGC_DS02141,BMG_DS002762,"MONDO: A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. | MeSH: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE."
+BMGC_DS02142,BMG_DS002763,"MeSH: Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders."
+BMGC_DS02143,BMG_DS002764,"MONDO: The presence of excessive white blood cells in the urine as determined by urinalysis. | MeSH: The presence of white blood cells (LEUKOCYTES) in the urine. It is often associated with bacterial infections of the urinary tract. Pyuria without BACTERIURIA can be caused by TUBERCULOSIS, stones, or cancer."
+BMGC_DS02144,BMG_DS002765,"MONDO: A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. | MeSH: An acute infectious disease caused by COXIELLA BURNETII. It is characterized by a sudden onset of FEVER; HEADACHE; malaise; and weakness. In humans, it is commonly contracted by inhalation of infected dusts derived from infected domestic animals (ANIMALS, DOMESTIC)."
+BMGC_DS02145,BMG_DS002766,MONDO: Paralysis of all four limbs. | MeSH: Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
+BMGC_DS02146,BMG_DS002767,"MONDO: Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated. | MeSH: Acute VIRAL CNS INFECTION affecting mammals, including humans. It is caused by RABIES VIRUS and usually spread by contamination with virus-laden saliva of bites inflicted by rabid animals. Important animal vectors include the dog, cat, bat, fox, raccoon, skunk, and wolf."
+BMGC_DS02147,BMG_DS002768,MONDO: Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES. | MeSH: Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES.
+BMGC_DS02148,BMG_DS002769,"NCI: An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. | MONDO: An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. | MeSH: Disease involving a spinal nerve root (see SPINAL NERVE ROOTS) which may result from compression related to INTERVERTEBRAL DISK DISPLACEMENT; SPINAL CORD INJURIES; SPINAL DISEASES; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root."
+BMGC_DS02149,BMG_DS002770,MONDO: A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. | MeSH: A cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation.
+BMGC_DS02150,BMG_DS002772,"MONDO: An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus. | MeSH: A syndrome characterized by recurring fever, rash, and arthralgias occurring days to weeks after a rat bite. The causative agents are either Streptobacillus moniliformis or Spirillum minus."
+BMGC_DS02151,BMG_DS002773,"MONDO: An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. | MeSH: An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress."
+BMGC_DS02152,BMG_DS002774,"MeSH: An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress."
+BMGC_DS02153,BMG_DS002776,"MONDO: A disease that involves the rectum. | MeSH: Pathological developments in the RECTUM region of the large intestine (INTESTINE, LARGE)."
+BMGC_DS02154,BMG_DS002777,"MONDO: A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. | MeSH: Tumors or cancer of the RECTUM."
+BMGC_DS02155,BMG_DS002779,MONDO: Protrusion of the rectum through the anus. | MeSH: Protrusion of the rectal mucous membrane through the anus. There are various degrees: incomplete with no displacement of the anal sphincter muscle; complete with displacement of the anal sphincter muscle; complete with no displacement of the anal sphincter muscle but with herniation of the bowel; and internal complete with rectosigmoid or upper rectum intussusception into the lower rectum.
+BMGC_DS02156,BMG_DS002780,"MONDO: A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. | MeSH: Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production."
+BMGC_DS02157,BMG_DS002782,"MONDO: Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb. | MeSH: A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)"
+BMGC_DS02158,BMG_DS002783,"MONDO: A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia. | MeSH: Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus."
+BMGC_DS02159,BMG_DS002784,"MONDO: A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. | MeSH: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES."
+BMGC_DS02160,BMG_DS002785,"MeSH: An aseptic, inflammatory arthritis developing secondary to a primary extra-articular infection, most typically of the GASTROINTESTINAL TRACT or UROGENITAL SYSTEM. The initiating trigger pathogens are usually SHIGELLA; SALMONELLA; YERSINIA; CAMPYLOBACTER; or CHLAMYDIA TRACHOMATIS. Reactive arthritis is strongly associated with HLA-B27 ANTIGEN."
+BMGC_DS02161,BMG_DS002786,"MONDO: Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex. | MeSH: An acute infection characterized by recurrent episodes of PYREXIA alternating with asymptomatic intervals of apparent recovery. This condition is caused by SPIROCHETES of the genus BORRELIA. It is transmitted by the BITES of either the body louse (PEDICULUS humanus corporis), for which humans are the reservoir, or by soft ticks of the genus ORNITHODOROS, for which rodents and other animals are the principal reservoirs."
+BMGC_DS02162,BMG_DS002787,"NCI: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. | MONDO: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated."
+BMGC_DS02163,BMG_DS002788,"MONDO: Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). | MeSH: Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)."
+BMGC_DS02164,BMG_DS002789,"HPO: The presence of stenosis of the renal artery. [https://orcid.org/0000-0002-0736-9199] | MeSH: Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)."
+BMGC_DS02165,BMG_DS002790,"MONDO: An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. | MeSH: Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE."
+BMGC_DS02166,BMG_DS002792,"NCI: Abnormalities of bone mineral metabolism associated with chronic kidney disease. | MONDO: Abnormalities of bone mineral metabolism associated with chronic kidney disease. | MeSH: Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders."
+BMGC_DS02167,BMG_DS002793,MONDO: Genetic defects in the selective or non-selective transport functions of the kidney tubules. | MeSH: Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.
+BMGC_DS02168,BMG_DS002796,"MONDO: A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. | MeSH: Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available."
+BMGC_DS02169,BMG_DS002797,"MONDO: A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis. | MeSH: A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause."
+BMGC_DS02170,BMG_DS002798,"MONDO: A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%. | MeSH: A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA."
+BMGC_DS02171,BMG_DS002800,"MONDO: Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. | MeSH: Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported."
+BMGC_DS02172,BMG_DS002801,MeSH: Diseases involving the RESPIRATORY SYSTEM.
+BMGC_DS02173,BMG_DS002802,"MONDO: Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. | MeSH: Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases."
+BMGC_DS02174,BMG_DS002804,MONDO: A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs. | MeSH: A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
+BMGC_DS02175,BMG_DS002806,
+BMGC_DS02176,BMG_DS002807,"NCI: A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003 | MONDO: A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003"
+BMGC_DS02177,BMG_DS002808,"MONDO: An occlusion of the retinal artery. | MeSH: Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye."
+BMGC_DS02178,BMG_DS002809,"MONDO: Degeneration of the retina. | MeSH: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)"
+BMGC_DS02179,BMG_DS002810,"MONDO: An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. | MeSH: Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12)."
+BMGC_DS02180,BMG_DS002811,MONDO: Any disease or disorder of the retina. | MeSH: Diseases involving the RETINA.
+BMGC_DS02181,BMG_DS002812,MONDO: Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. | MeSH: Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.
+BMGC_DS02182,BMG_DS002813,MONDO: Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome. | MeSH: Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.
+BMGC_DS02183,BMG_DS002814,"MONDO: A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. | MeSH: Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes."
+BMGC_DS02184,BMG_DS002815,NCI: An occlusion of the retinal vasculature. | MONDO: An occlusion of the retinal vasculature.
+BMGC_DS02185,BMG_DS002816,MONDO: An occlusion of the retinal vein. | MeSH: Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES.
+BMGC_DS02186,BMG_DS002817,"MONDO: Inflammation of the retina. | MeSH: Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis)."
+BMGC_DS02187,BMG_DS002818,"MONDO: Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. | MeSH: Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina."
+BMGC_DS02188,BMG_DS002819,"MONDO: A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. | MeSH: A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)"
+BMGC_DS02189,BMG_DS002820,"MONDO: A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. | MeSH: A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)"
+BMGC_DS02190,BMG_DS002821,"MONDO: Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss. | MeSH: Pathological processes involving the VESTIBULOCOCHLEAR NERVE; BRAINSTEM; or CENTRAL NERVOUS SYSTEM. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss."
+BMGC_DS02191,BMG_DS002822,"MONDO: Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle. | MeSH: A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis."
+BMGC_DS02192,BMG_DS002823,MONDO: A benign or malignant neoplasm that affects the retroperitoneum. | MeSH: New abnormal growth of tissue in the RETROPERITONEAL SPACE.
+BMGC_DS02193,BMG_DS002825,"MONDO: A severe neurodevelopmental disorder affecting the central nervous system. | MeSH: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)"
+BMGC_DS02194,BMG_DS002826,"MONDO: An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. | MeSH: A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism."
+BMGC_DS02195,BMG_DS002827,"MONDO: The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. | MeSH: The process by which fetal Rh+ erythrocytes enter the circulation of an Rh- mother, causing her to produce IMMUNOGLOBULIN G antibodies, which can cross the placenta and destroy the erythrocytes of Rh+ fetuses. Rh isoimmunization can also be caused by BLOOD TRANSFUSION with mismatched blood."
+BMGC_DS02196,BMG_DS002829,"MONDO: A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. | MeSH: A malignant solid tumor arising from mesenchymal tissues which normally differentiate to form striated muscle. It can occur in a wide variety of sites. It is divided into four distinct types: pleomorphic, predominantly in male adults; alveolar (RHABDOMYOSARCOMA, ALVEOLAR), mainly in adolescents and young adults; embryonal (RHABDOMYOSARCOMA, EMBRYONAL), predominantly in infants and children; and botryoidal, also in young children. It is one of the most frequently occurring soft tissue sarcomas and the most common in children under 15. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p2186; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1647-9)"
+BMGC_DS02197,BMG_DS002830,"MeSH: Disorders of connective tissue, especially the joints and related structures, characterized by inflammation, degeneration, or metabolic derangement."
+BMGC_DS02198,BMG_DS002831,"MONDO: A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. | MeSH: A febrile disease occurring as a delayed sequela of infections with STREPTOCOCCUS PYOGENES. It is characterized by multiple focal inflammatory lesions of the connective tissue structures, such as the heart, blood vessels, and joints (POLYARTHRITIS) and brain, and by the presence of ASCHOFF BODIES in the myocardium and skin."
+BMGC_DS02199,BMG_DS002832,"MONDO: An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction. | MeSH: Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM."
+BMGC_DS02200,BMG_DS002833,"NCI: Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci). | MONDO: Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci)."
+BMGC_DS02201,BMG_DS002836,"MONDO: An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge. | MeSH: Inflammation of the NASAL MUCOSA, the mucous membrane lining the NASAL CAVITIES."
+BMGC_DS02202,BMG_DS002837,"MONDO: Allergic rhinitis caused by indoor allergens and lasting year round. | MeSH: Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc."
+BMGC_DS02203,BMG_DS002838,"MONDO: A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena). | MeSH: A chronic inflammation in which the NASAL MUCOSA gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony TURBINATES, and the foul-smelling mucus which forms a greenish crust (ozena)."
+BMGC_DS02204,BMG_DS002839,"MONDO: Inflammation in the nasal cavity mucosa that results from the abnormal regulation of the blood flow in the nose. It may be caused by temperature fluctuations, air pollution, strong odors, and tobacco smoke. It results in chronic nasal congestion, sneezing, and running nose. | MeSH: A form of non-allergic rhinitis that is characterized by nasal congestion and posterior pharyngeal drainage."
+BMGC_DS02205,BMG_DS002841,"MONDO: A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin. | MeSH: A granulomatous disease caused by KLEBSIELLA RHINOSCLEROMATIS infection. Despite its name, this disease is not limited to the nose and NASOPHARYNX but may affect any part of the RESPIRATORY TRACT, sometimes with extension to the lip and the skin."
+BMGC_DS02206,BMG_DS002843,"MeSH: A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)"
+BMGC_DS02207,BMG_DS002844,"MONDO: Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. | MeSH: Disorders caused by interruption of BONE MINERALIZATION manifesting as OSTEOMALACIA in adults and characteristic deformities in infancy and childhood due to disturbances in normal BONE FORMATION. The mineralization process may be interrupted by disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis, resulting from dietary deficiencies, or acquired, or inherited metabolic, or hormonal disturbances."
+BMGC_DS02208,BMG_DS002845,MONDO: A group of infectious diseases that is caused by Rickettsia. | MeSH: Infections by the genus RICKETTSIA.
+BMGC_DS02209,BMG_DS002847,"ORPHANET: A rare, acquired, self-limiting, infectious disease due to the mite-borne bacteria &lt;i&gt;Rickettsia akari&lt;/i&gt; characterized by an asymptomatic, 0.5 to 2 cm in diameter papulovesicle that typically ulcerates and forms an eschar, followed by a generalized papulovesicular rash associating variable constitutional symptoms, such as localized lymphadenopathy, fever, malaise, and headaches. Additonal symptoms may include diaphoresis, myalgia and, less frequently, rhinorrhea, pharyngitis, nausea, vomiting, splenomegaly, conjunctival hyperemia, and abdominal pain. Systemic symptoms resolve within 6-10 days. | MeSH: A group of arthropod-borne diseases caused by spotted fever bio-group members of RICKETTSIA. They are characterized by fever, headache, and petechial (spotted) rash."
+BMGC_DS02210,BMG_DS002848,"MONDO: Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms. | MeSH: An acute infection caused by the RIFT VALLEY FEVER VIRUS, an RNA arthropod-borne virus, affecting domestic animals and humans. In animals, symptoms include HEPATITIS; abortion (ABORTION, VETERINARY); and DEATH. In humans, symptoms range from those of a flu-like disease to hemorrhagic fever, ENCEPHALITIS, or BLINDNESS."
+BMGC_DS02211,BMG_DS002849,"NCI: An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. | MONDO: An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided."
+BMGC_DS02212,BMG_DS002852,"MeSH: Aberrant chromosomes with no ends, i.e., circular."
+BMGC_DS02213,BMG_DS002854,"MONDO: Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline). | MeSH: An acute febrile illness caused by RICKETTSIA RICKETTSII. It is transmitted to humans by bites of infected ticks and occurs only in North and South America. Characteristics include a sudden onset with headache and chills and fever lasting about two to three weeks. A cutaneous rash commonly appears on the extremities and trunk about the fourth day of illness."
+BMGC_DS02214,BMG_DS002855,"MONDO: Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs). | MeSH: Diseases of rodents of the order RODENTIA. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)."
+BMGC_DS02215,BMG_DS002856,"MONDO: Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed) | MeSH: Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)"
+BMGC_DS02216,BMG_DS002857,"MONDO: A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids. | MeSH: A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7)."
+BMGC_DS02217,BMG_DS002858,"MONDO: Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice. | MeSH: Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice."
+BMGC_DS02218,BMG_DS002859,"MONDO: A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. | MeSH: An acute infectious disease caused by the RUBELLA VIRUS. The virus enters the respiratory tract via airborne droplet and spreads to the LYMPHATIC SYSTEM."
+BMGC_DS02219,BMG_DS002861,"MONDO: A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics. | MeSH: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3)."
+BMGC_DS02220,BMG_DS002862,"SNOMEDCT_US: An extremely rare type of short rib polydactyly syndrome with neonatal onset. The disease has characteristics of polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia ('flipper-like' extremities), pointed metaphyses and a range of other ossification defects. Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels and atresia of the gastrointestinal and genitourinary systems. | MONDO: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. | MeSH: A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly."
+BMGC_DS02221,BMG_DS002864,"MONDO: A concretion in the salivary gland. | MeSH: Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands."
+BMGC_DS02222,BMG_DS002865,MeSH: Diseases involving the SALIVARY GLANDS.
+BMGC_DS02223,BMG_DS002866,MONDO: A neoplasm (disease) that involves the saliva-secreting gland. | MeSH: Tumors or cancer of the SALIVARY GLANDS.
+BMGC_DS02224,BMG_DS002867,"MONDO: Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. | MeSH: Poisoning caused by ingestion of food harboring species of SALMONELLA. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply."
+BMGC_DS02225,BMG_DS002868,MONDO: Infections with bacteria of the genus salmonella. | MeSH: Infections with bacteria of the genus SALMONELLA.
+BMGC_DS02226,BMG_DS002869,MONDO: Infections in animals with bacteria of the genus salmonella. | MeSH: Infections in animals with bacteria of the genus SALMONELLA.
+BMGC_DS02227,BMG_DS002870,"MONDO: Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. | MeSH: Inflammation of the uterine salpinx, the trumpet-shaped FALLOPIAN TUBES, usually caused by ascending infections of organisms from the lower reproductive tract. Salpingitis can lead to tubal scarring, hydrosalpinx, tubal occlusion, INFERTILITY, and ectopic pregnancy (PREGNANCY, ECTOPIC)"
+BMGC_DS02228,BMG_DS002871,NCI: Inflammation of the fallopian tubes and ovaries.
+BMGC_DS02229,BMG_DS002872,"MONDO: Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration. | MeSH: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE."
+BMGC_DS02230,BMG_DS002873,"MONDO: Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. | MeSH: An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands."
+BMGC_DS02231,BMG_DS002874,NCI: Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. | MONDO: Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.
+BMGC_DS02232,BMG_DS002876,"MONDO: Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss. | MeSH: Sarcoidosis affecting predominantly the lungs, the site most frequently involved and most commonly causing morbidity and mortality in sarcoidosis. Pulmonary sarcoidosis is characterized by sharply circumscribed granulomas in the alveolar, bronchial, and vascular walls, composed of tightly packed cells derived from the mononuclear phagocyte system. The clinical symptoms when present are dyspnea upon exertion, nonproductive cough, and wheezing. (Cecil Textbook of Medicine, 19th ed, p431)"
+BMGC_DS02233,BMG_DS002880,"MONDO: A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). | MeSH: A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause."
+BMGC_DS02234,BMG_DS002881,"MONDO: A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001) | MeSH: A unifocal malignant tumor that consists of atypical pathological MAST CELLS without systemic involvement. It causes local destructive growth in organs other than in skin or bone marrow."
+BMGC_DS02235,BMG_DS002882,"MONDO: Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism. | MeSH: Infection of the striated muscle of mammals by parasites of the genus SARCOCYSTIS. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism."
+BMGC_DS02236,BMG_DS002883,"MONDO: A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows. | MeSH: A contagious cutaneous inflammation caused by the bite of the mite SARCOPTES SCABIEI. It is characterized by pruritic papular eruptions and burrows and affects primarily the axillae, elbows, wrists, and genitalia, although it can spread to cover the entire body."
+BMGC_DS02237,BMG_DS002884,MONDO: Dermotosis of scalp | MeSH: Skin diseases involving the SCALP.
+BMGC_DS02238,BMG_DS002886,"MONDO: A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. | MeSH: Infection with group A streptococci that is characterized by tonsillitis and pharyngitis. An erythematous rash is commonly present."
+BMGC_DS02239,BMG_DS002887,"MeSH: Diseases affecting PIGMENTATION, including SKIN PIGMENTATION."
+BMGC_DS02240,BMG_DS002888,MONDO: A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood. | MeSH: A type of juvenile osteochondrosis affecting the fibrocartilaginous disc (INTERVERTEBRAL DISC) in the thoracic or thoracolumbar region of the SPINE. It is characterized by a forward concave SPINAL CURVATURE or KYPHOSIS.
+BMGC_DS02241,BMG_DS002889,"MONDO: An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic. | MeSH: Infection with flukes (trematodes) of the genus SCHISTOSOMA. Three species produce the most frequent clinical diseases: SCHISTOSOMA HAEMATOBIUM (endemic in Africa and the Middle East), SCHISTOSOMA MANSONI (in Egypt, northern and southern Africa, some West Indies islands, northern 2/3 of South America), and SCHISTOSOMA JAPONICUM (in Japan, China, the Philippines, Celebes, Thailand, Laos). S. mansoni is often seen in Puerto Ricans living in the United States."
+BMGC_DS02242,BMG_DS002890,"MONDO: An infection that is caused by Schistosoma japonicum. | MeSH: Schistosomiasis caused by Schistosoma japonicum. It is endemic in the ASIA, EASTERN and affects the bowel, liver, and spleen."
+BMGC_DS02243,BMG_DS002891,"MONDO: An infection that is caused by Schistosoma mansoni. | MeSH: Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver."
+BMGC_DS02244,BMG_DS002894,"NCI: A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms. | MONDO: A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms."
+BMGC_DS02245,BMG_DS002895,"MONDO: A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness. | MeSH: A personality disorder manifested by a profound defect in the ability to form social relationships, no desire for social involvement, and an indifference to praise or criticism."
+BMGC_DS02246,BMG_DS002896,"MONDO: A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. | MeSH: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior."
+BMGC_DS02247,BMG_DS002897,"MeSH: An obsolete concept, historically used for childhood mental disorders thought to be a form of schizophrenia. It was in earlier versions of DSM but is now included within the broad concept of PERVASIVE DEVELOPMENT DISORDERS."
+BMGC_DS02248,BMG_DS002898,"MONDO: A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect. | MeSH: A chronic form of schizophrenia characterized primarily by the presence of persecutory or grandiose delusions, often associated with hallucination."
+BMGC_DS02249,BMG_DS002899,NCI: A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning. | MONDO: A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning.
+BMGC_DS02250,BMG_DS002900,
+BMGC_DS02251,BMG_DS002901,"MONDO: A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). | MeSH: Abnormal development of cartilage and bone."
+BMGC_DS02252,BMG_DS002903,"MONDO: Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. | MeSH: An anomalous pulmonary venous return in which the right PULMONARY VEIN is not connected to the LEFT ATRIUM but to the INFERIOR VENA CAVA. Scimitar syndrome is named for the crescent- or Turkish sword-like shadow in the chest radiography and is often associated with hypoplasia of the right lung and right pulmonary artery, and dextroposition of the heart."
+BMGC_DS02253,BMG_DS002904,"MONDO: A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare. | MeSH: General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects."
+BMGC_DS02254,BMG_DS002905,"MONDO: A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis. | MeSH: A diffuse, non-pitting induration of the skin of unknown etiology that occurs most commonly in association with diabetes mellitus, predominantly in females. It typically begins on the face or head and spreads to other areas of the body, sometimes involving noncutaneous tissues. Often it is preceded by any of various infections, notably staphylococcal infections. The condition resolves spontaneously, usually within two years of onset. (From Dorland, 27th ed)"
+BMGC_DS02255,BMG_DS002907,"MONDO: Inflammation of the sclera. | MeSH: Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva."
+BMGC_DS02256,BMG_DS002908,"NCI: A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. Localized scleroderma typically affects the skin, with formation of patches or lines of thick and unyielding tissue; there can be muscle and underlying tissue involvement as well as occasional joint complications. The affected areas of skin can be restrictive and disfiguring. The shape, depth and location of the affected area is used to classify one of the four types of local scleroderma. An individual can have a combination of localized scleroderma types. | MONDO: Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips."
+BMGC_DS02257,BMG_DS002909,"MONDO: A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. | MeSH: A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA."
+BMGC_DS02258,BMG_DS002910,"MONDO: A congenital or acquired spinal deformity characterized by lateral curvature of the spine. | MeSH: An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)"
+BMGC_DS02259,BMG_DS002911,"MONDO: A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions. | MeSH: A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions."
+BMGC_DS02260,BMG_DS002912,"MONDO: A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions. | MeSH: A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS."
+BMGC_DS02261,BMG_DS002913,"MONDO: Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A. | MeSH: Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A."
+BMGC_DS02262,BMG_DS002915,"MONDO: Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. | MeSH: An acute infectious disease caused by ORIENTIA TSUTSUGAMUSHI. It is limited to eastern and southeastern Asia, India, northern Australia, and the adjacent islands. Characteristics include the formation of a primary cutaneous lesion at the site of the bite of an infected mite, fever lasting about two weeks, and a maculopapular rash."
+BMGC_DS02263,BMG_DS002916,"MONDO: A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur. | MeSH: An acquired blood vessel disorder caused by severe deficiency of vitamin C (ASCORBIC ACID) in the diet leading to defective collagen formation in small blood vessels. Scurvy is characterized by bleeding in any tissue, weakness, ANEMIA, spongy gums, and a brawny induration of the muscles of the calves and legs."
+BMGC_DS02264,BMG_DS002917,"MONDO: A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly. | MeSH: A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining."
+BMGC_DS02265,BMG_DS002918,"NCI: A sensation of discomfort associated with travel over water, which may include nausea, vomiting, dizziness, or sweating. | MeSH: Disorder caused by motion. It includes sea sickness, train sickness, roller coaster rides, rocking chair, hammock swing, car sickness, air sickness, or SPACE MOTION SICKNESS. Symptoms include nausea, vomiting and/or dizziness."
+BMGC_DS02266,BMG_DS002919,MONDO: A disease involving the sebaceous gland. | MeSH: Diseases of the sebaceous glands such as sebaceous hyperplasia and sebaceous cell carcinoma (SEBACEOUS GLAND NEOPLASMS).
+BMGC_DS02267,BMG_DS002920,MONDO: A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma. | MeSH: New abnormal growth of tissue in the SEBACEOUS GLANDS.
+BMGC_DS02268,BMG_DS002921,"MONDO: A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. | MeSH: A chronic inflammatory disease of the skin with unknown etiology. It is characterized by moderate ERYTHEMA, dry, moist, or greasy (SEBACEOUS GLAND) scaling and yellow crusted patches on various areas, especially the scalp, that exfoliate as dandruff. Seborrheic dermatitis is common in children and adolescents with HIV INFECTIONS."
+BMGC_DS02269,BMG_DS002922,"MeSH: A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)."
+BMGC_DS02270,BMG_DS002923,"MONDO: A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes. | MeSH: A radiosensitive, malignant neoplasm of the testis, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. There are three variants: classical (typical), the most common type; anaplastic; and spermatocytic. The classical seminoma is composed of fairly well differentiated sheets or cords of uniform polygonal or round cells (seminoma cells), each cell having abundant clear cytoplasm, distinct cell membranes, a centrally placed round nucleus, and one or more nucleoli. In the female, a grossly and histologically identical neoplasm, known as dysgerminoma, occurs. (Dorland, 27th ed)"
+BMGC_DS02271,BMG_DS002924,"HPO: A type of cataract (opacification of the lens) that forms during the course of aging. [https://orcid.org/0000-0002-0736-9199, PMID:15708105] | MONDO: A cataract with no obvious cause occurring in persons over 50 years old."
+BMGC_DS02272,BMG_DS002926,"MeSH: Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM)."
+BMGC_DS02273,BMG_DS002930,"MeSH: Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK."
+BMGC_DS02274,BMG_DS002932,"MONDO: A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course. | MeSH: Gonadal neoplasm composed entirely of SERTOLI CELLS or may have a component of GRANULOSA CELLS. Some of the Sertoli cell tumors produce ESTROGEN or ANDROGENS, but seldom in sufficient quantity to cause clinical symptoms such as FEMINIZATION or masculinization (VIRILISM)."
+BMGC_DS02275,BMG_DS002933,"MONDO: Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction. | MeSH: Immune complex disease caused by the administration of foreign serum or serum proteins and characterized by fever, lymphadenopathy, arthralgia, and urticaria. When they are complexed to protein carriers, some drugs can also cause serum sickness when they act as haptens inducing antibody responses."
+BMGC_DS02276,BMG_DS002934,"MONDO: Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. | MeSH: Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness."
+BMGC_DS02277,BMG_DS002935,MeSH: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
+BMGC_DS02278,BMG_DS002936,
+BMGC_DS02279,BMG_DS002942,"MONDO: Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells). | MeSH: A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)."
+BMGC_DS02280,BMG_DS002945,"MONDO: A rare, cardiac condition characterized by severely decreased cardiac output, hypoperfusion and end-organ dysfunction, in the presence of adequate intravascular volume. The clinical presentation is variable and may range from subtle hemodynamic alterations to overt cardiovascular collapse. Commonly reported features include dyspnea, crackles, elevated jugular venous pressure, altered mental state, abnormal pulse pressure, oliguria, cold extremities, and increased serum lactate levels. | MeSH: Shock resulting from diminution of cardiac output in heart disease."
+BMGC_DS02281,BMG_DS002946,"MONDO: Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. | MeSH: A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT."
+BMGC_DS02282,BMG_DS002947,"MONDO: Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). | MeSH: A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly."
+BMGC_DS02283,BMG_DS002948,"MONDO: Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow. | MeSH: Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (ENDOTOXINS) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous THROMBOSIS and NECROSIS. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of IMMUNE SYSTEM, coagulation, FIBRINOLYSIS, and blood flow."
+BMGC_DS02284,BMG_DS002949,"MeSH: A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)"
+BMGC_DS02285,BMG_DS002950,"MONDO: Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common. | MeSH: INFLAMMATION of salivary tissue (SALIVARY GLANDS), usually due to INFECTION or injuries."
+BMGC_DS02286,BMG_DS002951,"MONDO: A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma. | MeSH: A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma."
+BMGC_DS02287,BMG_DS002952,MeSH: Increased salivary flow.
+BMGC_DS02288,BMG_DS002953,"MONDO: A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992) | MeSH: A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (ALVEOLITIS, EXTRINSIC ALLERGIC); allergic rhinitis (RHINITIS, ALLERGIC, PERENNIAL); ASTHMA; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS02289,BMG_DS002954,"MONDO: A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction. | MeSH: A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects."
+BMGC_DS02290,BMG_DS002955,MeSH: The condition of being heterozygous for hemoglobin S.
+BMGC_DS02291,BMG_DS002956,MeSH: A form of pneumoconiosis resulting from inhalation of iron in the mining dust or welding fumes.
+BMGC_DS02292,BMG_DS002957,"MONDO: Pathological processes in the sigmoid colon region of the large intestine (intestine, large). | MeSH: Pathological processes in the SIGMOID COLON region of the large intestine (INTESTINE, LARGE)."
+BMGC_DS02293,BMG_DS002958,MONDO: Tumors or cancer of the sigmoid colon. | MeSH: Tumors or cancer of the SIGMOID COLON.
+BMGC_DS02294,BMG_DS002960,"MONDO: Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. | MeSH: A form of pneumoconiosis resulting from inhalation of dust containing crystalline form of SILICON DIOXIDE, usually in the form of quartz. Amorphous silica is relatively nontoxic."
+BMGC_DS02295,BMG_DS002962,"MONDO: A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. | MeSH: A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage."
+BMGC_DS02296,BMG_DS002963,MONDO: Virus diseases caused by the herpesviridae. | MeSH: Virus diseases caused by the HERPESVIRIDAE.
+BMGC_DS02297,BMG_DS002965,"MeSH: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero."
+BMGC_DS02298,BMG_DS002966,MONDO: A heart block that is initiated in the sinoatrial node. | MeSH: Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the SINOATRIAL NODE to the HEART ATRIA. It is characterized by a delayed in heartbeat and pauses between P waves in an ELECTROCARDIOGRAM.
+BMGC_DS02299,BMG_DS002967,"MONDO: Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects. | MeSH: Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects."
+BMGC_DS02300,BMG_DS002968,MONDO: An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. | MeSH: Inflammation of the NASAL MUCOSA in one or more of the PARANASAL SINUSES.
+BMGC_DS02301,BMG_DS002969,"NCI: A disorder characterized by the malformation of the legs into a single lower limb. | MONDO: Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth."
+BMGC_DS02302,BMG_DS002970,"MeSH: A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins."
+BMGC_DS02303,BMG_DS002971,"MONDO: A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. | MeSH: An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism."
+BMGC_DS02304,BMG_DS002973,MONDO: Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. | MeSH: Diseases involving the DERMIS or EPIDERMIS.
+BMGC_DS02305,BMG_DS002974,"MONDO: Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) | MeSH: Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)"
+BMGC_DS02306,BMG_DS002975,"MONDO: An instance of skin disease that is caused by a modification of the individual's genome. | MeSH: Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism."
+BMGC_DS02307,BMG_DS002976,"MONDO: Skin diseases caused by bacteria, fungi, parasites, or viruses. | MONDO: An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. | MeSH: Skin diseases caused by bacteria, fungi, parasites, or viruses."
+BMGC_DS02308,BMG_DS002980,"MONDO: A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. | MeSH: Tumors or cancer of the SKIN."
+BMGC_DS02309,BMG_DS002981,"MONDO: A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction."
+BMGC_DS02310,BMG_DS002982,MeSH: An ULCER of the skin and underlying tissues.
+BMGC_DS02311,BMG_DS002983,MONDO: A benign or malignant neoplasm that affects the bones and structures of the skull. | MeSH: Neoplasms of the bony part of the skull.
+BMGC_DS02312,BMG_DS002984,"MONDO: A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. | MeSH: Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types."
+BMGC_DS02313,BMG_DS002986,"MONDO: A condition that is caused by infection with Variola, and that is characterized by small, raised bumps. | MeSH: An acute, highly contagious, often fatal infectious disease caused by an orthopoxvirus characterized by a biphasic febrile course and distinctive progressive skin eruptions. Vaccination has succeeded in eradicating smallpox worldwide. (Dorland, 28th ed)"
+BMGC_DS02314,BMG_DS002990,"MONDO: A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. | MeSH: Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc."
+BMGC_DS02315,BMG_DS002992,"NCI: A single, fluid-filled cyst in the breast parenchyma. | MONDO: A single, fluid-filled cyst in the breast parenchyma."
+BMGC_DS02316,BMG_DS002993,"MONDO: A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. | MeSH: Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by another medical condition, by the direct effects of a substance, or by another mental disorder. The MEDICALLY UNEXPLAINED SYMPTOMS must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to FACTITIOUS DISORDERS and MALINGERING, the physical symptoms are not under voluntary control. (APA, DSM-V)"
+BMGC_DS02317,BMG_DS002994,"MONDO: A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1. | MeSH: A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS."
+BMGC_DS02318,BMG_DS002995,"MeSH: A parasomnia characterized by a partial arousal that occurs during stage IV of non-REM sleep. Affected individuals exhibit semipurposeful behaviors such as ambulation and are difficult to fully awaken. Children are primarily affected, with a peak age range of 4-6 years."
+BMGC_DS02319,BMG_DS002996,"MONDO: A condition resulting from infection with the second stage larvae of the parasite Spirometra. | MeSH: Infection of animals, including fish and man, with a developmental stage of Diphyllobothrium. This stage has recently been referred to as a plerocercoid but the name sparganum has persisted. Therefore, infection of fish or other animals with the plerocercoid larvae is sparganosis. Fish-eating mammals, including man, are the final hosts."
+BMGC_DS02320,BMG_DS002997,"MeSH: A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)"
+BMGC_DS02321,BMG_DS002998,"MONDO: West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. | MeSH: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)"
+BMGC_DS02322,BMG_DS002999,"MeSH: Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness."
+BMGC_DS02323,BMG_DS003000,"MONDO: Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. | MeSH: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)"
+BMGC_DS02324,BMG_DS003002,"MONDO: A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. | MeSH: Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language."
+BMGC_DS02325,BMG_DS003003,"MONDO: An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. | MeSH: The twisting of the SPERMATIC CORD due to an anatomical abnormality that left the TESTIS mobile and dangling in the SCROTUM. The initial effect of testicular torsion is obstruction of venous return. Depending on the duration and degree of cord rotation, testicular symptoms range from EDEMA to interrupted arterial flow and testicular pain. If blood flow to testis is absent for 4 to 6 h, SPERMATOGENESIS may be permanently lost."
+BMGC_DS02326,BMG_DS003004,"MONDO: A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris. | MeSH: A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions."
+BMGC_DS02327,BMG_DS003005,MONDO: An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus. | MeSH: Inflammation of the NASAL MUCOSA in the SPHENOID SINUS. Isolated sphenoid sinusitis is uncommon. It usually occurs in conjunction with other paranasal sinusitis.
+BMGC_DS02328,BMG_DS003007,"MONDO: Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. | MeSH: A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions."
+BMGC_DS02329,BMG_DS003008,"MONDO: An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. | MeSH: A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign."
+BMGC_DS02330,BMG_DS003009,"MONDO: A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. | MeSH: A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)"
+BMGC_DS02331,BMG_DS003011,"MeSH: Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence."
+BMGC_DS02332,BMG_DS003012,"MONDO: A disease involving the spinal cord. | MeSH: Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord."
+BMGC_DS02333,BMG_DS003013,MONDO: A neoplasm (disease) that involves the spinal cord. | MeSH: Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.
+BMGC_DS02334,BMG_DS003014,MONDO: A disease involving the vertebral column. | MeSH: Diseases involving the SPINE.
+BMGC_DS02335,BMG_DS003015,MeSH: New abnormal growth of tissue in the SPINE.
+BMGC_DS02336,BMG_DS003018,"MeSH: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked."
+BMGC_DS02337,BMG_DS003020,MONDO: A disease involving the spleen. | MeSH: Diseases involving the SPLEEN.
+BMGC_DS02338,BMG_DS003021,"MONDO: Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed) | MeSH: Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)"
+BMGC_DS02339,BMG_DS003022,"MONDO: A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma. | MeSH: Tumors or cancer of the SPLEEN."
+BMGC_DS02340,BMG_DS003023,MONDO: The inflammation of a vertebra. | MeSH: Inflammation of the SPINE. This includes both arthritic and non-arthritic conditions.
+BMGC_DS02341,BMG_DS003024,"MONDO: An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. | MeSH: A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions."
+BMGC_DS02342,BMG_DS003025,HPO: A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). [https://orcid.org/0000-0002-0736-9199] | MONDO: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis. | MeSH: Abnormal development of cartilage and bone.
+BMGC_DS02343,BMG_DS003026,MONDO: A condition in which there is forward displacement of a vertebral bone over the on below it. | MeSH: Forward displacement of a superior vertebral body over the vertebral body below.
+BMGC_DS02344,BMG_DS003027,"MONDO: A defect in the pars interarticularis of a vertebral bone. | MeSH: Deficient development or degeneration of a portion of the VERTEBRA, usually in the pars interarticularis (the bone bridge between the superior and inferior facet joints of the LUMBAR VERTEBRAE) leading to SPONDYLOLISTHESIS."
+BMGC_DS02345,BMG_DS003028,"MONDO: A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue. | MeSH: A degenerative spinal disease that can involve any part of the VERTEBRA, the INTERVERTEBRAL DISK, and the surrounding soft tissue."
+BMGC_DS02346,BMG_DS003029,"MeSH: A form of spondylosis involving the INTERVERTEBRAL DISK, including both the annulus and the nucleus of the disk. It is usually the consequence of normal aging. | MeSH: A degenerative spinal disease that can involve any part of the VERTEBRA, the INTERVERTEBRAL DISK, and the surrounding soft tissue."
+BMGC_DS02347,BMG_DS003031,"MeSH: A group of arthropod-borne diseases caused by spotted fever bio-group members of RICKETTSIA. They are characterized by fever, headache, and petechial (spotted) rash."
+BMGC_DS02348,BMG_DS003032,"MONDO: A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common. | MeSH: A chronic malabsorption syndrome, occurring mainly in residents of or visitors to the tropics or subtropics. The failed INTESTINAL ABSORPTION of nutrients from the SMALL INTESTINE results in MALNUTRITION and ANEMIA that is due to FOLIC ACID deficiency."
+BMGC_DS02349,BMG_DS003033,"MONDO: A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age."
+BMGC_DS02350,BMG_DS003034,NCI: Gastroenteritis resulting from an infection with Staphylococcus aureus.
+BMGC_DS02351,BMG_DS003036,MONDO: An infection caused by Staphylococcus. | MeSH: Infections with bacteria of the genus STAPHYLOCOCCUS.
+BMGC_DS02352,BMG_DS003038,MeSH: Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS.
+BMGC_DS02353,BMG_DS003039,"MONDO: An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators. | MeSH: A sudden intense and continuous aggravation of a state of asthma, marked by dyspnea to the point of exhaustion and collapse and not responding to the usual therapeutic efforts."
+BMGC_DS02354,BMG_DS003040,"MONDO: A life-threatening situation in which the brain is in a continuous state of seizure. | MeSH: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)"
+BMGC_DS02355,BMG_DS003042,MONDO: A finding of an excessive amount of fat in the stool.
+BMGC_DS02356,BMG_DS003044,"MONDO: Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994) | MeSH: Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (DSM-IV, 1994)"
+BMGC_DS02357,BMG_DS003045,"MONDO: Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. | MeSH: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis."
+BMGC_DS02358,BMG_DS003046,MONDO: Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation. | MeSH: Abnormal distention of the STOMACH due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of GASTRIC OUTLET OBSTRUCTION; ILEUS; GASTROPARESIS; or denervation.
+BMGC_DS02359,BMG_DS003047,MONDO: A disease involving the stomach. | MeSH: Pathological processes involving the STOMACH.
+BMGC_DS02360,BMG_DS003048,MONDO: A benign or malignant neoplasm involving the stomach. | MeSH: Tumors or cancer of the STOMACH.
+BMGC_DS02361,BMG_DS003050,MONDO: An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. | MeSH: Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS).
+BMGC_DS02362,BMG_DS003052,"MONDO: Inflammation of the oral mucosa due to local or systemic factors. | MeSH: INFLAMMATION of the soft tissues of the MOUTH, such as MUCOSA; PALATE; GINGIVA; and LIP."
+BMGC_DS02363,BMG_DS003053,"MONDO: A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. | MeSH: A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)"
+BMGC_DS02364,BMG_DS003054,MONDO: Inflammation of the mouth due to denture irritation. | MeSH: Inflammation of the mouth due to denture irritation.
+BMGC_DS02365,BMG_DS003056,NCI: Inflammation of the mouth mucosa associated with the presence of ulcers. | MONDO: Inflammation of the mouth mucosa associated with the presence of ulcers.
+BMGC_DS02366,BMG_DS003057,"MeSH: General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx."
+BMGC_DS02367,BMG_DS003058,"MONDO: Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. | MeSH: Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)"
+BMGC_DS02368,BMG_DS003059,"MONDO: Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. | MeSH: Infections with bacteria of the genus STREPTOCOCCUS."
+BMGC_DS02369,BMG_DS003060,MONDO: An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. | MeSH: A class of traumatic stress disorders with symptoms that last more than one month.
+BMGC_DS02370,BMG_DS003061,"NCI: The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause. | MONDO: The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause."
+BMGC_DS02371,BMG_DS003062,MONDO: A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.
+BMGC_DS02372,BMG_DS003063,"ORPHANET: The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. | MONDO: The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. | MeSH: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect."
+BMGC_DS02373,BMG_DS003064,MONDO: Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum. | MeSH: Infection of horses with parasitic nematodes of the superfamily STRONGYLOIDEA. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum.
+BMGC_DS02374,BMG_DS003065,"MONDO: An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. | MeSH: Infection with nematodes of the genus STRONGYLOIDES. The presence of larvae may produce pneumonitis and the presence of adult worms in the intestine could lead to moderate to severe diarrhea."
+BMGC_DS02375,BMG_DS003067,"MONDO: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. | MeSH: A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects."
+BMGC_DS02376,BMG_DS003068,"MeSH: A disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables. Various other types of speech dysfluencies may also be involved including interjections, broken words, audible or silent blocking, circumlocutions, words produced with an excess of physical tension, and monosyllabic whole word repetitions. Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (From DSM-IV, 1994)"
+BMGC_DS02377,BMG_DS003069,"MONDO: A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex. | MeSH: A rare, slowly progressive encephalitis caused by chronic infection with the MEASLES VIRUS. The condition occurs primarily in children and young adults, approximately 2-8 years after the initial infection. A gradual decline in intellectual abilities and behavioral alterations are followed by progressive MYOCLONUS; MUSCLE SPASTICITY; SEIZURES; DEMENTIA; autonomic dysfunction; and ATAXIA. DEATH usually occurs 1-3 years after disease onset. Pathologic features include perivascular cuffing, eosinophilic cytoplasmic inclusions, neurophagia, and fibrous gliosis. It is caused by the SSPE virus, which is a defective variant of MEASLES VIRUS. (From Adams et al., Principles of Neurology, 6th ed, pp767-8)"
+BMGC_DS02378,BMG_DS003070,"MONDO: Intracranial hemorrhage into the subarachnoid space. | MeSH: Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status."
+BMGC_DS02379,BMG_DS003071,"MONDO: An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention. | MeSH: A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)"
+BMGC_DS02380,BMG_DS003072,MONDO: An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid. | MeSH: An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID.
+BMGC_DS02381,BMG_DS003074,MONDO: A disease involving the submandibular gland. | MeSH: Diseases involving the SUBMANDIBULAR GLAND.
+BMGC_DS02382,BMG_DS003081,"MeSH: The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)"
+BMGC_DS02383,BMG_DS003082,"MONDO: A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed) | MeSH: A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)"
+BMGC_DS02384,BMG_DS003084,"MeSH: A frequent complication of drug therapy for microbial infection. It may result from opportunistic colonization following immunosuppression by the primary pathogen and can be influenced by the time interval between infections, microbial physiology, or host resistance. Experimental challenge and in vitro models are sometimes used in virulence and infectivity studies."
+BMGC_DS02385,BMG_DS003085,"MONDO: Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment. | MeSH: DUODENAL OBSTRUCTION by the superior mesenteric artery (MESENTERIC ARTERY, SUPERIOR) which travels in the root of the MESENTERY and crosses over the DUODENUM. The syndrome is characterized by the dilated proximal duodenum and STOMACH, bloating, ABDOMINAL CRAMPS, and VOMITING. Often it is observed in patient with body casts after spinal surgery."
+BMGC_DS02386,BMG_DS003086,"MONDO: Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache. | MeSH: A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms which is called Pemberton's sign. Classification of SVC obstruction is often based on COLLATERAL CIRCULATION."
+BMGC_DS02387,BMG_DS003087,"MeSH: A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms which is called Pemberton's sign. Classification of SVC obstruction is often based on COLLATERAL CIRCULATION."
+BMGC_DS02388,BMG_DS003088,"MONDO: A rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. | MeSH: A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)"
+BMGC_DS02389,BMG_DS003089,MeSH: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
+BMGC_DS02390,BMG_DS003090,"MeSH: Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation."
+BMGC_DS02391,BMG_DS003091,"MeSH: Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)"
+BMGC_DS02392,BMG_DS003092,MeSH: Diseases of the SWEAT GLANDS.
+BMGC_DS02393,BMG_DS003093,MONDO: A benign or malignant neoplasm arising from the sweat glands. | MeSH: New abnormal growth of tissue in the SWEAT GLANDS.
+BMGC_DS02394,BMG_DS003095,"MONDO: An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) | MeSH: An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)"
+BMGC_DS02395,BMG_DS003096,MONDO: Diseases of domestic swine and of the wild boar of the genus Sus. | MeSH: Diseases of domestic swine and of the wild boar of the genus Sus.
+BMGC_DS02396,BMG_DS003099,"MeSH: Inflammation of follicles, primarily hair follicles."
+BMGC_DS02397,BMG_DS003100,"MONDO: A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms. | MeSH: A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements."
+BMGC_DS02398,BMG_DS003101,"MONDO: A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. | MeSH: A characteristic symptom complex."
+BMGC_DS02399,BMG_DS003103,"MONDO: A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. | MeSH: A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed)"
+BMGC_DS02400,BMG_DS003104,"MONDO: Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name). | MeSH: A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)"
+BMGC_DS02401,BMG_DS003105,MONDO: Inflammation of a synovial membrane. | MeSH: Inflammation of the SYNOVIAL MEMBRANE.
+BMGC_DS02402,BMG_DS003107,"MONDO: A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion. | MeSH: Diffuse outgrowth arising from the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath around the joint cavity, with extension to surrounding soft tissue. It is characterized by pigmented HEMOSIDERIN-containing MACROPHAGES; FOAM CELLS; and multinucleated GIANT CELLS. It usually occurs in the hands and feet, and around large joints, such as in the ankle and knee joints."
+BMGC_DS02403,BMG_DS003109,"MONDO: A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system. | MeSH: A contagious venereal disease caused by the spirochete TREPONEMA PALLIDUM."
+BMGC_DS02404,BMG_DS003111,"MONDO: A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. | MeSH: Syphilis acquired in utero and manifested by any of several characteristic tooth (Hutchinson's teeth) or bone malformations and by active mucocutaneous syphilis at birth or shortly thereafter. Ocular and neurologic changes may also occur."
+BMGC_DS02405,BMG_DS003113,MONDO: A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease. | MeSH: The stage of syphilis that occurs following the primary (CHANCRE) and secondary stages. The patient is asymptomatic at the latent stage but remains seropositive for the SPIROCHETE.
+BMGC_DS02406,BMG_DS003115,"MONDO: Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS). | MeSH: Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)"
+BMGC_DS02407,BMG_DS003117,"MONDO: A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints. | MeSH: Parenchymatous NEUROSYPHILIS marked by slowly progressive degeneration of the posterior columns, posterior roots, and ganglia of the spinal cord. The condition tends to present 15 to 20 years after the initial infection and is characterized by lightening-like pains in the lower extremities, URINARY INCONTINENCE; ATAXIA; severely impaired position and vibratory sense, abnormal gait (see GAIT DISORDERS, NEUROLOGIC), OPTIC ATROPHY; Argyll-Robertson pupils, hypotonia, hyperreflexia, and trophic joint degeneration (Charcot's Joint; see ARTHROPATHY, NEUROGENIC). (From Adams et al., Principles of Neurology, 6th ed, p726)"
+BMGC_DS02408,BMG_DS003118,MeSH: Abnormally rapid heartbeats caused by reentry of atrial impulse into the dual (fast and slow) pathways of ATRIOVENTRICULAR NODE. The common type involves a blocked atrial impulse in the slow pathway which reenters the fast pathway in a retrograde direction and simultaneously conducts to the atria and the ventricles leading to rapid HEART RATE of 150-250 beats per minute.
+BMGC_DS02409,BMG_DS003119,"MeSH: Abnormally rapid heartbeats originating from one or more automatic foci (nonsinus pacemakers) in the HEART ATRIUM but away from the SINOATRIAL NODE. Unlike the reentry mechanism, automatic tachycardia speeds up and slows down gradually. The episode is characterized by a HEART RATE between 135 to less than 200 beats per minute and lasting 30 seconds or longer."
+BMGC_DS02410,BMG_DS003121,MeSH: Abnormally rapid heartbeats with sudden onset and cessation.
+BMGC_DS02411,BMG_DS003123,"MeSH: Simple rapid heartbeats caused by rapid discharge of impulses from the SINOATRIAL NODE, usually between 100 and 180 beats/min in adults. It is characterized by a gradual onset and termination. Sinus tachycardia is common in infants, young children, and adults during strenuous physical activities."
+BMGC_DS02412,BMG_DS003124,MeSH: A generic expression for any tachycardia that originates above the BUNDLE OF HIS.
+BMGC_DS02413,BMG_DS003126,"MONDO: A rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. | MeSH: A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy."
+BMGC_DS02414,BMG_DS003127,"MONDO: Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. | MeSH: An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD."
+BMGC_DS02415,BMG_DS003128,"MONDO: Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. | MeSH: Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)"
+BMGC_DS02416,BMG_DS003129,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS02417,BMG_DS003130,"MONDO: GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. | MeSH: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry."
+BMGC_DS02418,BMG_DS003131,"MONDO: A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. | MeSH: An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA."
+BMGC_DS02419,BMG_DS003132,"MONDO: Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes. | MeSH: Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders."
+BMGC_DS02420,BMG_DS003133,"MeSH: A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)"
+BMGC_DS02421,BMG_DS003135,"MONDO: Any condition affecting the anatomic and functional characteristics of the temporomandibular joint. | MeSH: A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia. (From Thoma's Oral Pathology, 6th ed, pp577-600)"
+BMGC_DS02422,BMG_DS003136,"MONDO: A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management. | MeSH: A symptom complex consisting of pain, muscle tenderness, clicking in the joint, and limitation or alteration of mandibular movement. The symptoms are subjective and manifested primarily in the masticatory muscles rather than the temporomandibular joint itself. Etiologic factors are uncertain but include occlusal dysharmony and psychophysiologic factors."
+BMGC_DS02423,BMG_DS003137,"NCI: Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. | MONDO: Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. | MeSH: Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance."
+BMGC_DS02424,BMG_DS003138,MeSH: A condition characterized by pain in or near the lateral humeral epicondyle or in the forearm extensor muscle mass as a result of unusual strain. It occurs due repetitive stresses on the elbow from activities such as tennis playing.
+BMGC_DS02425,BMG_DS003139,"MONDO: Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. | MeSH: Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced."
+BMGC_DS02426,BMG_DS003140,"MONDO: A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. | MeSH: A true neoplasm composed of a number of different types of tissue, none of which is native to the area in which it occurs. It is composed of tissues that are derived from three germinal layers, the endoderm, mesoderm, and ectoderm. They are classified histologically as mature (benign) or immature (malignant). (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1642)"
+BMGC_DS02427,BMG_DS003141,"MONDO: A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. | MeSH: Pathological processes of the TESTIS."
+BMGC_DS02428,BMG_DS003142,"MONDO: Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). | MeSH: A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY."
+BMGC_DS02429,BMG_DS003143,MONDO: A neoplasm (disease) that involves the testis. | MeSH: Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms.
+BMGC_DS02430,BMG_DS003144,NCI: A cataract resulting from hypocalcemia. | MONDO: A cataract resulting from hypocalcemia.
+BMGC_DS02431,BMG_DS003145,"MONDO: A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. | MeSH: A disease caused by tetanospasmin, a powerful protein toxin produced by CLOSTRIDIUM TETANI. Tetanus usually occurs after an acute injury, such as a puncture wound or laceration. Generalized tetanus, the most common form, is characterized by tetanic muscular contractions and hyperreflexia. Localized tetanus presents itself as a mild condition with manifestations restricted to muscles near the wound. It may progress to the generalized form."
+BMGC_DS02432,BMG_DS003146,"MONDO: Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. | MeSH: A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS."
+BMGC_DS02433,BMG_DS003147,"MONDO: A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma. | MeSH: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, MOVEMENT DISORDERS; ATAXIA, pain syndromes, visual disorders, a variety of neuropsychological conditions, and COMA. Relatively common etiologies include CEREBROVASCULAR DISORDERS; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; BRAIN HYPOXIA; INTRACRANIAL HEMORRHAGES; and infectious processes."
+BMGC_DS02434,BMG_DS003148,MONDO: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. | MeSH: A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
+BMGC_DS02435,BMG_DS003149,"MONDO: Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. | MeSH: A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period."
+BMGC_DS02436,BMG_DS003151,"MONDO: Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. | MeSH: Infection of cattle, sheep, or goats with protozoa of the genus THEILERIA. This infection results in an acute or chronic febrile condition."
+BMGC_DS02437,BMG_DS003152,"MeSH: A nutritional condition produced by a deficiency of THIAMINE in the diet, characterized by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, BERIBERI prevalence is very high. (From Cecil Textbook of Medicine, 19th ed, p1171)"
+BMGC_DS02438,BMG_DS003154,"MONDO: OBSOLETE. A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. | MeSH: Disorders affecting the organs of the thorax."
+BMGC_DS02439,BMG_DS003155,MONDO: A neoplasm (disease) that involves the thoracic segment of trunk. | MeSH: New abnormal growth of tissue in the THORAX.
+BMGC_DS02440,BMG_DS003156,"MONDO: A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip. | MeSH: A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5)."
+BMGC_DS02441,BMG_DS003157,"MONDO: A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia | MeSH: A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX)."
+BMGC_DS02442,BMG_DS003158,"MONDO: A rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. | MeSH: A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking."
+BMGC_DS02443,BMG_DS003159,"MONDO: A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) | MeSH: A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets."
+BMGC_DS02444,BMG_DS003160,MONDO: A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. | MeSH: A subnormal level of BLOOD PLATELETS.
+BMGC_DS02445,BMG_DS003161,MONDO: Inflammation of the veins associated with the presence of a thrombus. | MeSH: Inflammation of a vein associated with a blood clot (THROMBUS).
+BMGC_DS02446,BMG_DS003162,MONDO: The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. | MeSH: Formation and development of a thrombus or blood clot in BLOOD VESSELS.
+BMGC_DS02447,BMG_DS003164,"MONDO: A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course. | MeSH: A neoplasm originating from thymic tissue, usually benign, and frequently encapsulated. Although it is occasionally invasive, metastases are extremely rare. It consists of any type of thymic epithelial cell as well as lymphocytes that are usually abundant. Malignant lymphomas that involve the thymus, e.g., lymphosarcoma, Hodgkin's disease (previously termed granulomatous thymoma), should not be regarded as thymoma. (From Stedman, 25th ed)"
+BMGC_DS02448,BMG_DS003165,"MeSH: Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)"
+BMGC_DS02449,BMG_DS003167,"MONDO: Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. | MeSH: A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems."
+BMGC_DS02450,BMG_DS003168,MeSH: Pathological processes involving the THYROID GLAND.
+BMGC_DS02451,BMG_DS003169,MONDO: A benign or malignant neoplasm affecting the thyroid gland. | MeSH: Tumors or cancer of the THYROID GLAND.
+BMGC_DS02452,BMG_DS003170,"MONDO: Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. | MeSH: Inflammatory diseases of the THYROID GLAND. Thyroiditis can be classified into acute (THYROIDITIS, SUPPURATIVE), subacute (granulomatous and lymphocytic), chronic fibrous (Riedel's), chronic lymphocytic (HASHIMOTO DISEASE), transient (POSTPARTUM THYROIDITIS), and other AUTOIMMUNE THYROIDITIS subtypes."
+BMGC_DS02453,BMG_DS003171,"MONDO: Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. | MeSH: Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection."
+BMGC_DS02454,BMG_DS003172,"MONDO: Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis. | MeSH: Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS."
+BMGC_DS02455,BMG_DS003173,"MONDO: A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. | MeSH: A hypermetabolic syndrome caused by excess THYROID HORMONES which may come from endogenous or exogenous sources. The endogenous source of hormone may be thyroid HYPERPLASIA; THYROID NEOPLASMS; or hormone-producing extrathyroidal tissue. Thyrotoxicosis is characterized by NERVOUSNESS; TACHYCARDIA; FATIGUE; WEIGHT LOSS; heat intolerance; and excessive SWEATING."
+BMGC_DS02456,BMG_DS003174,"MeSH: Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)"
+BMGC_DS02457,BMG_DS003175,MONDO: Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks. | MeSH: Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.
+BMGC_DS02458,BMG_DS003176,MONDO: Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks. | MeSH: Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.
+BMGC_DS02459,BMG_DS003179,"MONDO: Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. | MeSH: Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. (Dorland, 27th ed.)"
+BMGC_DS02460,BMG_DS003180,"MONDO: A skin infection caused by a fungus. | MeSH: Fungal infection of keratinized tissues such as hair, skin and nails. The main causative fungi include MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON."
+BMGC_DS02461,BMG_DS003181,"MONDO: A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts. | MeSH: Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species."
+BMGC_DS02462,BMG_DS003182,"MeSH: Ringworm of the scalp and associated hair mainly caused by species of MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON, which may occasionally involve the eyebrows and eyelashes."
+BMGC_DS02463,BMG_DS003183,"MONDO: A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin."
+BMGC_DS02464,BMG_DS003185,"MONDO: A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles. | MeSH: A disease of the scalp that may affect the glabrous skin and the nails and is recognized by the concave sulfur-yellow crusts that form around loose, wiry hairs. Atrophy ensues, leaving a smooth, glossy, thin, paper-white patch. This type of disease is rare in the United States and more frequently seen in the Middle East, Africa, Southeastern Europe, and other countries bordering the Mediterranean Sea. (Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p319)"
+BMGC_DS02465,BMG_DS003187,"MONDO: Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. | MeSH: Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum."
+BMGC_DS02466,BMG_DS003188,"MONDO: A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds. | MeSH: A fungal infection of the nail, usually caused by DERMATOPHYTES; YEASTS; or nondermatophyte MOLDS."
+BMGC_DS02467,BMG_DS003189,"MONDO: A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. | MeSH: A common chronic, noninflammatory and usually symptomless disorder, characterized by the occurrence of multiple macular patches of all sizes and shapes, and varying in pigmentation from fawn-colored to brown. It is seen most frequently in hot, humid, tropical regions and is mostly caused by MALASSEZIA FURFUR (formerly Pityrosporum orbiculare)."
+BMGC_DS02468,BMG_DS003190,"MeSH: A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions."
+BMGC_DS02469,BMG_DS003192,"MONDO: Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others. | MeSH: An idiopathic syndrome characterized by the formation of granulation tissue in the anterior cavernous sinus or superior orbital fissure, producing a painful ophthalmoplegia. (Adams et al., Principles of Neurology, 6th ed, p271)"
+BMGC_DS02470,BMG_DS003193,MONDO: A disease involving the tongue. | MeSH: Diseases involving the TONGUE.
+BMGC_DS02471,BMG_DS003194,MONDO: A neoplasm (disease) that involves the tongue. | MeSH: Tumors or cancer of the TONGUE.
+BMGC_DS02472,BMG_DS003195,MeSH: The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE.
+BMGC_DS02473,BMG_DS003196,"MONDO: A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black. | MeSH: A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)"
+BMGC_DS02474,BMG_DS003198,"MeSH: Inflammation of the tonsils, especially the PALATINE TONSILS but the ADENOIDS (pharyngeal tonsils) and lingual tonsils may also be involved. Tonsillitis usually is caused by bacterial infection. Tonsillitis may be acute, chronic, or recurrent."
+BMGC_DS02475,BMG_DS003199,MONDO: A disease involving the calcareous tooth. | MeSH: Diseases involving the TEETH.
+BMGC_DS02476,BMG_DS003200,"MONDO: Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296) | MeSH: Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)"
+BMGC_DS02477,BMG_DS003202,"MONDO: Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676) | MeSH: Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)"
+BMGC_DS02478,BMG_DS003204,"MONDO: An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. | MeSH: An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption."
+BMGC_DS02479,BMG_DS003205,"MONDO: A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation. | MeSH: A malignant form of polymorphic ventricular tachycardia that is characterized by HEART RATE between 200 and 250 beats per minute, and QRS complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long QT intervals exceeding 500 milliseconds or BRADYCARDIA. Torsades de pointes may be self-limited or may progress to VENTRICULAR FIBRILLATION."
+BMGC_DS02480,BMG_DS003206,"MONDO: A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation. | MeSH: A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors."
+BMGC_DS02481,BMG_DS003207,"MONDO: A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. | MeSH: A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)"
+BMGC_DS02482,BMG_DS003208,MONDO: Infections with nematodes of the genus toxascaris. | MeSH: Infections with nematodes of the genus TOXASCARIS.
+BMGC_DS02483,BMG_DS003209,"MONDO: A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections. | MeSH: Infection by round worms of the genus TOXOCARA, usually found in wild and domesticated cats and dogs and foxes, except for the larvae, which may produce visceral and ocular larva migrans in man."
+BMGC_DS02484,BMG_DS003210,MONDO: A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. | MeSH: The acquired form of infection by Toxoplasma gondii in animals and man.
+BMGC_DS02485,BMG_DS003212,"MONDO: Toxoplasma infection that is present from birth. | MeSH: Prenatal protozoal infection with TOXOPLASMA gondii which is associated with injury to the developing fetal nervous system. The severity of this condition is related to the stage of pregnancy during which the infection occurs; first trimester infections are associated with a greater degree of neurologic dysfunction. Clinical features include HYDROCEPHALUS; MICROCEPHALY; deafness; cerebral calcifications; SEIZURES; and psychomotor retardation. Signs of a systemic infection may also be present at birth, including fever, rash, and hepatosplenomegaly. (From Adams et al., Principles of Neurology, 6th ed, p735)"
+BMGC_DS02486,BMG_DS003215,MeSH: Diseases involving the TRACHEA.
+BMGC_DS02487,BMG_DS003217,MONDO: Narrowing of the lumen of the trachea. | MeSH: A pathological narrowing of the TRACHEA.
+BMGC_DS02488,BMG_DS003218,"MONDO: A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. | MeSH: INFLAMMATION of the TRACHEA that is usually associated with RESPIRATORY TRACT INFECTIONS."
+BMGC_DS02489,BMG_DS003220,"MONDO: Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections. | MeSH: A rare and probably congenital condition characterized by great enlargement of the lumen of the trachea and the larger bronchi."
+BMGC_DS02490,BMG_DS003221,"MONDO: Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. | MeSH: Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA."
+BMGC_DS02491,BMG_DS003222,MONDO: A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis. | MeSH: A chronic infection of the CONJUNCTIVA and CORNEA caused by CHLAMYDIA TRACHOMATIS.
+BMGC_DS02492,BMG_DS003224,
+BMGC_DS02493,BMG_DS003225,NCI: A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. | MONDO: A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause.
+BMGC_DS02494,BMG_DS003226,"MONDO: A congenital cardiac defect in which two heart vessels are reversed (transposed). | MeSH: A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants."
+BMGC_DS02495,BMG_DS003227,"MeSH: Disorder characterized by recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving cross-dressing in a heterosexual male. The fantasies, urges, or behaviors cause clinically significant distress or impairment in social, occupational or other areas of functioning. (from APA, DSM-IV, 1994)"
+BMGC_DS02496,BMG_DS003230,"MONDO: An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse. | MeSH: An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by BARTONELLA QUINTANA and transmitted by the human louse."
+BMGC_DS02497,BMG_DS003233,"MONDO: A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur. | MeSH: An infection with TRICHINELLA. It is caused by eating raw or undercooked meat that is infected with larvae of nematode worms TRICHINELLA genus. All members of the TRICHINELLA genus can infect human in addition to TRICHINELLA SPIRALIS, the traditional etiological agent. It is distributed throughout much of the world and is re-emerging in some parts as a public health hazard and a food safety problem."
+BMGC_DS02498,BMG_DS003234,MONDO: An infection that is caused by Trichomonas. | MeSH: Infections in birds and mammals produced by various species of Trichomonas.
+BMGC_DS02499,BMG_DS003235,"MONDO: A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse. | MeSH: Inflammation of the vagina, marked by a purulent discharge. This disease is caused by the protozoan TRICHOMONAS VAGINALIS."
+BMGC_DS02500,BMG_DS003239,"MeSH: Fungal infection of keratinized tissues such as hair, skin and nails. The main causative fungi include MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON."
+BMGC_DS02501,BMG_DS003240,"MONDO: Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus. | MeSH: Infection by roundworms of the superfamily TRICHOSTRONGYLOIDEA, including the genera TRICHOSTRONGYLUS; OSTERTAGIA; Cooperia, HAEMONCHUS; Nematodirus, Hyostrongylus, and DICTYOCAULUS."
+BMGC_DS02502,BMG_DS003241,"MONDO: Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. | MeSH: Infestation with nematode worms of the genus TRICHOSTRONGYLUS. Man and animals become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin."
+BMGC_DS02503,BMG_DS003242,MONDO: A disorder characterized by repetitive pulling out of one's hair resulting in noticeable hair loss; the individual experiences a rising subjective sense of tension before pulling out the hair and a sense of gratification or relief when pulling out the hair. | MeSH: Compulsion to pull out one's hair.
+BMGC_DS02504,BMG_DS003243,"MeSH: Infection with nematodes of the genus TRICHURIS, formerly called Trichocephalus."
+BMGC_DS02505,BMG_DS003244,"MONDO: The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. | MeSH: Backflow of blood from the RIGHT VENTRICLE into the RIGHT ATRIUM due to imperfect closure of the TRICUSPID VALVE."
+BMGC_DS02506,BMG_DS003245,MONDO: Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus. | MeSH: Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus.
+BMGC_DS02507,BMG_DS003246,MONDO: Narrowing or stricture of the tricuspid orifice of the heart. | MeSH: The pathologic narrowing of the orifice of the TRICUSPID VALVE. This hinders the emptying of RIGHT ATRIUM leading to elevated right atrial pressure and systemic venous congestion. Tricuspid valve stenosis is almost always due to RHEUMATIC FEVER.
+BMGC_DS02508,BMG_DS003247,"MONDO: Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. | MeSH: A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)"
+BMGC_DS02509,BMG_DS003248,"MeSH: Spasmodic contraction of the masseter muscle resulting in forceful jaw closure. This may be seen with a variety of diseases, including TETANUS, as a complication of radiation therapy, trauma, or in association with neoplastic conditions."
+BMGC_DS02510,BMG_DS003250,"MONDO: Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus. | MeSH: Infestation with mites of the genus Trombicula, whose larvae carry the rickettsial agent of scrub typhus."
+BMGC_DS02511,BMG_DS003251,"MONDO: A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma. | MeSH: Trophoblastic growth, which may be gestational or nongestational in origin. Trophoblastic neoplasia resulting from pregnancy is often described as gestational trophoblastic disease to distinguish it from germ cell tumors which frequently show trophoblastic elements, and from the trophoblastic differentiation which sometimes occurs in a wide variety of epithelial cancers. Gestational trophoblastic growth has several forms, including HYDATIDIFORM MOLE and CHORIOCARCINOMA. (From Holland et al., Cancer Medicine, 3d ed, p1691)"
+BMGC_DS02512,BMG_DS003252,"NCI: A suppurative infection of muscle. | MONDO: Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation."
+BMGC_DS02513,BMG_DS003253,"MONDO: A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. | MeSH: A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect."
+BMGC_DS02514,BMG_DS003254,MONDO: Infection with protozoa of the genus trypanosoma. | MeSH: Infection with protozoa of the genus TRYPANOSOMA.
+BMGC_DS02515,BMG_DS003255,"MONDO: A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death. | MeSH: A disease endemic among people and animals in Central Africa. It is caused by various species of trypanosomes, particularly T. gambiense and T. rhodesiense. Its second host is the TSETSE FLY. Involvement of the central nervous system produces African sleeping sickness. Nagana is a rapidly fatal trypanosomiasis of horses and other animals."
+BMGC_DS02516,BMG_DS003259,"MONDO: A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. | MeSH: Infection with the protozoan parasite TRYPANOSOMA CRUZI, a form of TRYPANOSOMIASIS endemic in Central and South America. It is named after the Brazilian physician Carlos Chagas, who discovered the parasite. Infection by the parasite (positive serologic result only) is distinguished from the clinical manifestations that develop years later, such as destruction of PARASYMPATHETIC GANGLIA; CHAGAS CARDIOMYOPATHY; and dysfunction of the ESOPHAGUS or COLON."
+BMGC_DS02517,BMG_DS003261,MONDO: A tumor-like mass resulting from the enlargement of a tuberculous lesion. | MeSH: A tumor-like mass resulting from the enlargement of a tuberculous lesion.
+BMGC_DS02518,BMG_DS003262,"MONDO: A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. | MeSH: Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM TUBERCULOSIS."
+BMGC_DS02519,BMG_DS003265,MONDO: An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals. | MeSH: An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals.
+BMGC_DS02520,BMG_DS003266,MeSH: Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infection of MYCOBACTERIUM TUBERCULOSIS. Tuberculosis involvement may include the HEART; the BLOOD VESSELS; or the PERICARDIUM.
+BMGC_DS02521,BMG_DS003267,"MeSH: Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS."
+BMGC_DS02522,BMG_DS003270,"MONDO: Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area. | MeSH: TUBERCULOSIS that involves any region of the GASTROINTESTINAL TRACT, mostly in the distal ILEUM and the CECUM. In most cases, MYCOBACTERIUM TUBERCULOSIS is the pathogen. Clinical features include ABDOMINAL PAIN; FEVER; and palpable mass in the ileocecal area."
+BMGC_DS02523,BMG_DS003271,"MONDO: Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. | MeSH: Infection of the LIVER with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (TUBERCULOMA), and abnormalities in liver function tests."
+BMGC_DS02524,BMG_DS003272,"MONDO: Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare. | MeSH: Tuberculosis involving the larynx, producing ulceration of the VOCAL CORDS and the LARYNGEAL MUCOSA."
+BMGC_DS02525,BMG_DS003275,"MONDO: A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis. | MeSH: A form of bacterial meningitis caused by MYCOBACTERIUM TUBERCULOSIS or rarely MYCOBACTERIUM BOVIS. The organism seeds the meninges and forms microtuberculomas which subsequently rupture. The clinical course tends to be subacute, with progressions occurring over a period of several days or longer. Headache and meningeal irritation may be followed by SEIZURES, cranial neuropathies, focal neurologic deficits, somnolence, and eventually COMA. The illness may occur in immunocompetent individuals or as an OPPORTUNISTIC INFECTION in the ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunodeficiency syndromes. (From Adams et al., Principles of Neurology, 6th ed, pp717-9)"
+BMGC_DS02526,BMG_DS003276,MONDO: I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma. | MeSH: An acute form of TUBERCULOSIS in which minute tubercles are formed in a number of organs of the body due to dissemination of the bacilli through the blood stream.
+BMGC_DS02527,BMG_DS003277,"MONDO: Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid. | MeSH: Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid."
+BMGC_DS02528,BMG_DS003278,"MONDO: Tuberculosis of the mouth, tongue, and salivary glands. | MeSH: Tuberculosis of the mouth, tongue, and salivary glands."
+BMGC_DS02529,BMG_DS003280,"MONDO: A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia. | MeSH: A form of PERITONITIS seen in patients with TUBERCULOSIS, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ASCITES, abdominal swelling, ABDOMINAL PAIN, and other systemic symptoms such as FEVER; WEIGHT LOSS; and ANEMIA."
+BMGC_DS02530,BMG_DS003281,MONDO: Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis. | MeSH: Tuberculosis of the serous membrane lining the thoracic cavity and surrounding the lungs.
+BMGC_DS02531,BMG_DS003282,"MONDO: A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss. | MeSH: MYCOBACTERIUM infections of the lung."
+BMGC_DS02532,BMG_DS003283,MONDO: Infection of the kidney due to mycobacteria. | MeSH: Infection of the KIDNEY with species of MYCOBACTERIUM.
+BMGC_DS02533,BMG_DS003284,"MONDO: Tuberculosis of the vertebrae. | MeSH: Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs."
+BMGC_DS02534,BMG_DS003287,MONDO: A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. | MeSH: A general term for MYCOBACTERIUM infections of any part of the UROGENITAL SYSTEM in either the male or the female.
+BMGC_DS02535,BMG_DS003289,"MONDO: Hereditary disease characterized by seizures, intellectual disability, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. | MeSH: Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease."
+BMGC_DS02536,BMG_DS003290,NCI: An abscess involving the distal fallopian tube and ovary. It is caused by pelvic inflammatory disease or other infections.
+BMGC_DS02537,BMG_DS003291,"HPO: A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. [https://orcid.org/0000-0002-0736-9199] | MONDO: Inflammation of the renal tubules and supporting tissues of the kidney. | MeSH: Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction."
+BMGC_DS02538,BMG_DS003292,"MONDO: Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics. | MeSH: A plague-like disease of rodents, transmissible to man. It is caused by FRANCISELLA TULARENSIS and is characterized by fever, chills, headache, backache, and weakness."
+BMGC_DS02539,BMG_DS003293,"MONDO: A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. | MeSH: A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia."
+BMGC_DS02540,BMG_DS003294,"MONDO: Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. | MeSH: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant."
+BMGC_DS02541,BMG_DS003295,"MeSH: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1."
+BMGC_DS02542,BMG_DS003297,"MONDO: A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. | MeSH: An acute systemic febrile infection caused by SALMONELLA TYPHI, a serotype of SALMONELLA ENTERICA."
+BMGC_DS02543,BMG_DS003298,"MONDO: A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus."
+BMGC_DS02544,BMG_DS003299,"MONDO: A bacterial infection caused by Rickettsia typhi. | MeSH: An infectious disease clinically similar to epidemic louse-borne typhus (TYPHUS, EPIDEMIC LOUSE-BORNE), but caused by RICKETTSIA TYPHI, which is transmitted from rat to man by the rat flea, XENOPSYLLA CHEOPIS."
+BMGC_DS02545,BMG_DS003300,"MONDO: A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis. | MeSH: The classic form of typhus, caused by RICKETTSIA PROWAZEKII, which is transmitted from man to man by the louse Pediculus humanus corporis. This disease is characterized by the sudden onset of intense headache, malaise, and generalized myalgia followed by the formation of a macular skin eruption and vascular and neurologic disturbances."
+BMGC_DS02546,BMG_DS003301,"MONDO: A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. | MeSH: A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue."
+BMGC_DS02547,BMG_DS003304,
+BMGC_DS02548,BMG_DS003305,
+BMGC_DS02549,BMG_DS003306,"NCI: A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts."
+BMGC_DS02550,BMG_DS003309,
+BMGC_DS02551,BMG_DS003310,MONDO: A disease involving the tympanic membrane.
+BMGC_DS02552,BMG_DS003311,MeSH: Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of disease processes.
+BMGC_DS02553,BMG_DS003312,
+BMGC_DS02554,BMG_DS003313,
+BMGC_DS02555,BMG_DS003314,
+BMGC_DS02556,BMG_DS003315,"NCI: An infectious process affecting the upper respiratory tract (nose, paranasal sinuses, pharynx, larynx, or trachea). Symptoms include congestion, sneezing, coughing, fever, and sore throat. | MONDO: Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. | MeSH: Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases."
+BMGC_DS02557,BMG_DS003316,"MONDO: Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. | MeSH: Cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus."
+BMGC_DS02558,BMG_DS003317,"MONDO: A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. | MeSH: A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms."
+BMGC_DS02559,BMG_DS003318,MONDO: The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins. | MeSH: Formation of stones in the URETER.
+BMGC_DS02560,BMG_DS003319,"MONDO: A benign or malignant neoplasm that affects the ureter. | MeSH: Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom."
+BMGC_DS02561,BMG_DS003322,MONDO: A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. | MeSH: A cystic dilatation of the end of a URETER as it enters into the URINARY BLADDER. It is characterized by the ballooning of the ureteral orifice into the lumen of the bladder and may obstruct urine flow.
+BMGC_DS02562,BMG_DS003323,MONDO: A disease involving the urethra. | MeSH: Pathological processes involving the URETHRA.
+BMGC_DS02563,BMG_DS003324,MONDO: A neoplasm (disease) that involves the urethra. | MeSH: Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males.
+BMGC_DS02564,BMG_DS003325,"MONDO: Blockage of the normal flow of urine in the urethra. | MeSH: Partial or complete blockage in any part of the URETHRA that can lead to difficulty or inability to empty the URINARY BLADDER. It is characterized by an enlarged, often damaged, bladder with frequent urges to void."
+BMGC_DS02565,BMG_DS003326,MeSH: Narrowing of any part of the URETHRA. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.
+BMGC_DS02566,BMG_DS003327,"MONDO: Inflammation of the urethra. | MeSH: Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both."
+BMGC_DS02567,BMG_DS003328,"MeSH: Involuntary discharge of URINE as a result of physical activities that increase abdominal pressure on the URINARY BLADDER without detrusor contraction or overdistended bladder. The subtypes are classified by the degree of leakage, descent and opening of the bladder neck and URETHRA without bladder contraction, and sphincter deficiency."
+BMGC_DS02568,BMG_DS003329,MeSH: Inflammatory responses of the epithelium of the URINARY TRACT to microbial invasions. They are often bacterial infections with associated BACTERIURIA and PYURIA.
+BMGC_DS02569,BMG_DS003331,"MeSH: Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE."
+BMGC_DS02570,BMG_DS003332,MONDO: A disease involving the renal system. | MeSH: Pathological processes of the URINARY TRACT in both males and females.
+BMGC_DS02571,BMG_DS003333,"MONDO: A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 | MeSH: Tumors or cancer of the URINARY TRACT in either the male or the female."
+BMGC_DS02572,BMG_DS003334,"MONDO: A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. | MeSH: A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress."
+BMGC_DS02573,BMG_DS003335,"MONDO: Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. | MeSH: The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules."
+BMGC_DS02574,BMG_DS003336,"MONDO: A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. | MeSH: Pathological processes involving any part of the UTERUS."
+BMGC_DS02575,BMG_DS003337,"MONDO: A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS02576,BMG_DS003339,MONDO: A neoplasm (disease) that involves the uterus. | MeSH: Tumors or cancer of the UTERUS.
+BMGC_DS02577,BMG_DS003341,"MONDO: A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. | MeSH: Diseases of the uvea."
+BMGC_DS02578,BMG_DS003343,"MONDO: An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. | MeSH: Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina). (Dorland, 27th ed)"
+BMGC_DS02579,BMG_DS003344,"MONDO: Inflammation of the iris and anterior chamber of the eye. | MeSH: Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced."
+BMGC_DS02580,BMG_DS003345,"MONDO: Inflammation of the pars plana. | MeSH: Inflammation of the pars plana, ciliary body, and adjacent structures."
+BMGC_DS02581,BMG_DS003346,"MONDO: Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. | MeSH: Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis."
+BMGC_DS02582,BMG_DS003347,MONDO: Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia. | MeSH: Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia.
+BMGC_DS02583,BMG_DS003348,"MONDO: A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. | MeSH: A syndrome characterized by bilateral granulomatous UVEITIS with IRITIS and secondary GLAUCOMA, premature ALOPECIA, symmetrical VITILIGO, poliosis circumscripta (a strand of depigmented hair), HEARING DISORDERS, and meningeal signs (neck stiffness and headache). Examination of the cerebrospinal fluid reveals a pattern consistent with MENINGITIS, ASEPTIC. (Adams et al., Principles of Neurology, 6th ed, p748; Surv Ophthalmol 1995 Jan;39(4):265-292)"
+BMGC_DS02584,BMG_DS003349,MONDO: A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea. | MeSH: A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea.
+BMGC_DS02585,BMG_DS003351,MONDO: The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. | MeSH: The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.
+BMGC_DS02586,BMG_DS003354,MONDO: A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.
+BMGC_DS02587,BMG_DS003355,"MONDO: A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. | MeSH: Pathological processes of the VAGINA."
+BMGC_DS02588,BMG_DS003356,"MONDO: A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma. | MeSH: Tumors or cancer of the VAGINA."
+BMGC_DS02589,BMG_DS003357,NCI: Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. | MONDO: Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause.
+BMGC_DS02590,BMG_DS003358,MONDO: A non-infectious or infectious inflammatory process affecting the vagina. | MeSH: Inflammation of the vagina characterized by pain and a purulent discharge.
+BMGC_DS02591,BMG_DS003359,
+BMGC_DS02592,BMG_DS003360,"MeSH: A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS02593,BMG_DS003361,MONDO: A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume. | MeSH: A condition characterized by the dilated tortuous veins of the SPERMATIC CORD with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume.
+BMGC_DS02594,BMG_DS003362,"MeSH: Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg."
+BMGC_DS02595,BMG_DS003363,MONDO: A vascular disease characterized by the presence of enlarged and tortuous veins. | MeSH: Enlarged and tortuous VEINS.
+BMGC_DS02596,BMG_DS003366,NCI: A disorder of the vasculature of the conjunctiva. | MONDO: A disorder of the vasculature of the cornea.
+BMGC_DS02597,BMG_DS003367,"MONDO: A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome. | MeSH: Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body."
+BMGC_DS02598,BMG_DS003368,
+BMGC_DS02599,BMG_DS003369,"MONDO: OBSOLETE. An outdated term to describe certain types of headache which were thought to be related to blood vessel swelling and hyperemia as cause of pain. it is no longer a recognized term and not mentioned in the Headache classification of the International Headache society (IHS). | MeSH: Secondary headache disorders attributed to a variety of cranial or cervical vascular disorders, such as BRAIN ISCHEMIA; INTRACRANIAL HEMORRHAGES; and CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS."
+BMGC_DS02600,BMG_DS003370,"MONDO: Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. Behcet disease) to relatively minor skin disease. | MeSH: Inflammation of any one of the blood vessels, including the ARTERIES; VEINS; and rest of the vasculature system in the body."
+BMGC_DS02601,BMG_DS003371,"MeSH: A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections."
+BMGC_DS02602,BMG_DS003374,MONDO: Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech. | MeSH: Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech.
+BMGC_DS02603,BMG_DS003376,"MONDO: Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle. | MeSH: Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with EDEMA and sometimes with VENOUS STASIS ULCERS at the ankle."
+BMGC_DS02604,BMG_DS003377,"MONDO: A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) | MeSH: A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST."
+BMGC_DS02605,BMG_DS003378,"MeSH: Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS."
+BMGC_DS02606,BMG_DS003379,"MONDO: A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) | MeSH: An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation)."
+BMGC_DS02607,BMG_DS003380,"HPO: Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). [PMID:17210977] | MONDO: A wart in the plantar surface of the foot. It is caused by human papillomavirus."
+BMGC_DS02608,BMG_DS003382,"MONDO: A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction. | MeSH: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated."
+BMGC_DS02609,BMG_DS003383,"MONDO: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated. | MeSH: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated."
+BMGC_DS02610,BMG_DS003384,MONDO: Abnormal flow of urine from the urinary bladder back into the ureters. | MeSH: Retrograde flow of urine from the URINARY BLADDER into the URETER. This is often due to incompetence of the vesicoureteral valve.
+BMGC_DS02611,BMG_DS003387,MONDO: An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.
+BMGC_DS02612,BMG_DS003388,MONDO: Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. | MeSH: Pathological processes of the VESTIBULAR LABYRINTH which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls.
+BMGC_DS02613,BMG_DS003389,MONDO: Infections with bacteria of the genus vibrio. | MeSH: Infections with bacteria of the genus VIBRIO.
+BMGC_DS02614,BMG_DS003390,MeSH: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
+BMGC_DS02615,BMG_DS003394,MeSH: The presence of viruses in the blood.
+BMGC_DS02616,BMG_DS003395,MONDO: Any disease caused by a virus. | MeSH: A general term for diseases caused by viruses.
+BMGC_DS02617,BMG_DS003396,"MeSH: A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM."
+BMGC_DS02618,BMG_DS003398,"MONDO: Any impairment to the vision. | MeSH: Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132)."
+BMGC_DS02619,BMG_DS003400,"MeSH: Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.)."
+BMGC_DS02620,BMG_DS003401,"MONDO: Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia. | MeSH: A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)"
+BMGC_DS02621,BMG_DS003402,"MONDO: A disease characterized by low serum levels of vitamin B12, either inherited or acquired. | MeSH: A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)"
+BMGC_DS02622,BMG_DS003403,"MONDO: A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. | MeSH: A condition due to deficiency in any member of the VITAMIN B COMPLEX. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat."
+BMGC_DS02623,BMG_DS003404,"MONDO: Abnormally low level of 25-hydroxyvitamin D in the blood. | MeSH: A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)"
+BMGC_DS02624,BMG_DS003405,"MeSH: A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)"
+BMGC_DS02625,BMG_DS003406,"MeSH: A nutritional condition produced by a deficiency of VITAMIN K in the diet, characterized by an increased tendency to hemorrhage (HEMORRHAGIC DISORDERS). Such bleeding episodes may be particularly severe in newborn infants. (From Cecil Textbook of Medicine, 19th ed, p1182)"
+BMGC_DS02626,BMG_DS003407,"MONDO: Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. | MeSH: A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached."
+BMGC_DS02627,BMG_DS003409,
+BMGC_DS02628,BMG_DS003410,"NCI: The separation of the vitreous from the retina. | MeSH: Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility."
+BMGC_DS02629,BMG_DS003413,"MONDO: A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. | MeSH: Pathological processes that affect voice production, usually involving VOCAL CORDS and the LARYNGEAL MUCOSA. Voice disorders can be caused by organic (anatomical), or functional (emotional or psychological) factors leading to DYSPHONIA; APHONIA; and defects in VOICE QUALITY, loudness, and pitch."
+BMGC_DS02630,BMG_DS003414,MONDO: An ischemic contracture of the forearm that most often occurs secondary to trauma. | MeSH: A type of permanent damage to muscles and nerves that results from prolonged lack blood flow to those tissues. It is characterized by shortening and stiffening of the muscles.
+BMGC_DS02631,BMG_DS003415,MONDO: Twisting of a loop of bowel that results in intestinal obstruction. | MeSH: A twisting in the intestine (INTESTINES) that can cause INTESTINAL OBSTRUCTION.
+BMGC_DS02632,BMG_DS003416,"MONDO: Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. | MeSH: Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion."
+BMGC_DS02633,BMG_DS003418,"MONDO: A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma. | MeSH: Pathological processes of the VULVA."
+BMGC_DS02634,BMG_DS003419,"MONDO: A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma. | MeSH: Tumors or cancer of the VULVA."
+BMGC_DS02635,BMG_DS003420,MONDO: Inflammation of the vulva. It is characterized by pruritus and painful urination. | MeSH: Inflammation of the VULVA. It is characterized by PRURITUS and painful urination.
+BMGC_DS02636,BMG_DS003421,"MONDO: An inflammatory pathologic process that affects the vulva and the vagina. | MeSH: Inflammation of the VULVA and the VAGINA, characterized by discharge, burning, and PRURITUS."
+BMGC_DS02637,BMG_DS003422,"MONDO: A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. | MeSH: INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)"
+BMGC_DS02638,BMG_DS003423,"MONDO: A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness. | MeSH: Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH."
+BMGC_DS02639,BMG_DS003424,NCI: A papillomavirus related epithelial overgrowth. It can be located anywhere on the body though when it involves the perineal region it is generally referred to as condyloma acuminatum.
+BMGC_DS02640,BMG_DS003425,"MeSH: A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism."
+BMGC_DS02641,BMG_DS003426,MONDO: A condition resulting from the excessive retention of water with sodium depletion. | MeSH: A condition resulting from the excessive retention of water with sodium depletion.
+BMGC_DS02642,BMG_DS003427,MeSH: A condition of HEMORRHAGE and NECROSIS of the ADRENAL GLAND. It is characterized by rapidly developing ADRENAL INSUFFICIENCY; HYPOTENSION; and widespread cutaneous PURPURA.
+BMGC_DS02643,BMG_DS003429,"MeSH: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)"
+BMGC_DS02644,BMG_DS003430,"MONDO: A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. | MeSH: An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease."
+BMGC_DS02645,BMG_DS003431,"MONDO: An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) | MeSH: An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)"
+BMGC_DS02646,BMG_DS003432,"MONDO: A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71) | MeSH: A mosquito-borne viral illness caused by the WEST NILE VIRUS, a FLAVIVIRUS and endemic to regions of Africa, Asia, and Europe. Common clinical features include HEADACHE; FEVER; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. MENINGITIS; ENCEPHALITIS; and MYELITIS may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)"
+BMGC_DS02647,BMG_DS003435,"MeSH: Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp."
+BMGC_DS02648,BMG_DS003436,"MONDO: A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. | MeSH: A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath."
+BMGC_DS02649,BMG_DS003438,"MONDO: Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. | MeSH: A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common."
+BMGC_DS02650,BMG_DS003439,"MONDO: A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. | MeSH: A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate."
+BMGC_DS02651,BMG_DS003440,"MONDO: A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. | MeSH: A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase."
+BMGC_DS02652,BMG_DS003441,"MONDO: Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). | MeSH: A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein."
+BMGC_DS02653,BMG_DS003442,"MONDO: Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. | MeSH: The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE."
+BMGC_DS02654,BMG_DS003444,"MONDO: A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. | MeSH: Benign disorder of infants and children caused by proliferation of HISTIOCYTES, macrophages found in tissues. These histiocytes, usually lipid-laden non-Langerhans cells, form multiple yellow-red nodules most often in the skin, the eye, and sometimes in the viscera. Patients appear to have normal lipid metabolism and are classified as a normolipemic non-Langerhans cell histiocytosis."
+BMGC_DS02655,BMG_DS003445,"MONDO: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. | MeSH: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS."
+BMGC_DS02656,BMG_DS003446,"NCI: A non-neoplastic disorder characterized by abnormally dry skin. Causes include vitamin A deficiency, sunlight exposure, medications, metabolic disorders, autoimmune disorders, and hereditary genetic disorders. | MeSH: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome."
+BMGC_DS02657,BMG_DS003447,"MONDO: Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). | MeSH: A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA."
+BMGC_DS02658,BMG_DS003448,"MeSH: Dryness of the eye surfaces caused by deficiency of tears or conjunctival secretions. It may be associated with vitamin A deficiency, trauma, or any condition in which the eyelids do not close completely."
+BMGC_DS02659,BMG_DS003449,MeSH: Decreased salivary flow.
+BMGC_DS02660,BMG_DS003450,"MONDO: An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease. | MeSH: A systemic non-venereal infection of the tropics caused by TREPONEMA PALLIDUM subspecies pertenue."
+BMGC_DS02661,BMG_DS003451,"MONDO: Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. | MeSH: An acute infectious disease primarily of the tropics, caused by a virus and transmitted to man by mosquitoes of the genera Aedes and Haemagogus. The severe form is characterized by fever, HEMOLYTIC JAUNDICE, and renal damage."
+BMGC_DS02662,BMG_DS003454,MONDO: Infections with bacteria of the species yersinia pseudotuberculosis. | MeSH: Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS.
+BMGC_DS02663,BMG_DS003455,"MONDO: The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. | MeSH: An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis."
+BMGC_DS02664,BMG_DS003456,"MONDO: Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion. | MeSH: A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1."
+BMGC_DS02665,BMG_DS003458,"MONDO: Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue. | MeSH: Infection in humans and animals caused by fungi in the class Zygomycetes. It includes MUCORMYCOSIS and entomophthoramycosis. The latter is a tropical infection of subcutaneous tissue or paranasal sinuses caused by fungi in the order Entomophthorales. Phycomycosis, closely related to zygomycosis, describes infection with members of Phycomycetes, an obsolete classification."
+BMGC_DS02666,BMG_DS003459,"MeSH: A type of automatic, not reentrant, ectopic ventricular rhythm with episodes lasting from a few seconds to a minute which usually occurs in patients with acute myocardial infarction or with DIGITALIS toxicity. The ventricular rate is faster than normal but slower than tachycardia, with an upper limit of 100 -120 beats per minute. Suppressive therapy is rarely necessary."
+BMGC_DS02667,BMG_DS003461,"MONDO: Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. | MeSH: Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity."
+BMGC_DS02668,BMG_DS003462,"MONDO: Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. | MeSH: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types."
+BMGC_DS02669,BMG_DS003463,"MONDO: Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) | MeSH: Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)"
+BMGC_DS02670,BMG_DS003465,MeSH: Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS.
+BMGC_DS02671,BMG_DS003466,"MeSH: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS."
+BMGC_DS02672,BMG_DS003467,"MONDO: A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. | MeSH: A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder."
+BMGC_DS02673,BMG_DS003468,"MONDO: A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body. | MeSH: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate."
+BMGC_DS02674,BMG_DS003470,"HPO: Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. [https://orcid.org/0009-0006-4530-3154] | MONDO: A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential."
+BMGC_DS02675,BMG_DS003472,"MONDO: Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB. | MeSH: Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction."
+BMGC_DS02676,BMG_DS003473,"MONDO: A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. | MeSH: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS."
+BMGC_DS02677,BMG_DS003474,"ORPHANET: Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. | MONDO: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. | MeSH: A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex."
+BMGC_DS02678,BMG_DS003475,"MeSH: Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane."
+BMGC_DS02679,BMG_DS003476,MONDO: Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. | MeSH: A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.
+BMGC_DS02680,BMG_DS003477,"MONDO: Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. | MeSH: Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane."
+BMGC_DS02681,BMG_DS003479,"NCI: An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain. | MONDO: Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | MeSH: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS."
+BMGC_DS02682,BMG_DS003480,MeSH: Downward displacement of any one of the HEART VALVES from its normal position. This usually results in failed valve closure.
+BMGC_DS02683,BMG_DS003481,"MONDO: Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease. | MeSH: Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease."
+BMGC_DS02684,BMG_DS003482,"MONDO: Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. | MeSH: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin."
+BMGC_DS02685,BMG_DS003483,"MONDO: Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. | MeSH: Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES."
+BMGC_DS02686,BMG_DS003484,"MeSH: Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type."
+BMGC_DS02687,BMG_DS003485,MONDO: The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin. | MeSH: Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.
+BMGC_DS02688,BMG_DS003486,"MONDO: A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. | MeSH: Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency."
+BMGC_DS02689,BMG_DS003487,"ORPHANET: A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. | MONDO: Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. | MeSH: Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities."
+BMGC_DS02690,BMG_DS003488,MONDO: Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. | MeSH: Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.
+BMGC_DS02691,BMG_DS003489,"ORPHANET: A severe form of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. | MONDO: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. | MeSH: Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane."
+BMGC_DS02692,BMG_DS003490,MONDO: A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. | MeSH: A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.
+BMGC_DS02693,BMG_DS003491,"MONDO: Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. | MeSH: Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation."
+BMGC_DS02694,BMG_DS003494,MONDO: A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003 | MeSH: A group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes.
+BMGC_DS02695,BMG_DS003495,MeSH: A group of lymphomas exhibiting clonal expansion of malignant T-lymphocytes arrested at varying stages of differentiation as well as malignant infiltration of the skin. MYCOSIS FUNGOIDES; SEZARY SYNDROME; LYMPHOMATOID PAPULOSIS; and PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA are the best characterized of these disorders.
+BMGC_DS02696,BMG_DS003496,"MeSH: A group of malignant lymphomas thought to derive from peripheral T-lymphocytes in lymph nodes and other nonlymphoid sites. They include a broad spectrum of lymphocyte morphology, but in all instances express T-cell markers admixed with epithelioid histiocytes, plasma cells, and eosinophils. Although markedly similar to large-cell immunoblastic lymphoma (LYMPHOMA, LARGE-CELL, IMMUNOBLASTIC), this group's unique features warrant separate treatment."
+BMGC_DS02697,BMG_DS003497,"MeSH: Allergic reaction to milk (usually cow's milk) or milk products. MILK HYPERSENSITIVITY should be differentiated from LACTOSE INTOLERANCE, an intolerance to milk as a result of congenital deficiency of lactase."
+BMGC_DS02698,BMG_DS003498,MONDO: A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. | MeSH: A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY.
+BMGC_DS02699,BMG_DS003502,"MONDO: Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. | MeSH: Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME."
+BMGC_DS02700,BMG_DS003504,"MONDO: Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing. | MeSH: A syndrome characterized by new neuromuscular symptoms that occur at least 15 years after clinical stability has been attained in patients with a prior history of symptomatic poliomyelitis. Clinical features include new muscular weakness and atrophy of the limbs, bulbar innervated musculature, and muscles of respiration, combined with excessive fatigue, joint pain, and reduced stamina. The process is marked by slow progression and periods of stabilization. (From Ann NY Acad Sci 1995 May 25;753:68-80)"
+BMGC_DS02701,BMG_DS003506,"MeSH: Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)"
+BMGC_DS02702,BMG_DS003508,"MONDO: A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. | MeSH: Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)"
+BMGC_DS02703,BMG_DS003509,"NCI: A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. | MONDO: A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. | MeSH: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)"
+BMGC_DS02704,BMG_DS003512,"ORPHANET: Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. | MONDO: A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. | MeSH: A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex."
+BMGC_DS02705,BMG_DS003514,"MONDO: Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown. | MeSH: Benign granulomatous disease of unknown etiology characterized by a ring of localized or disseminated papules or nodules on the skin and palisading histiocytes surrounding necrobiotic tissue resulting from altered collagen structures."
+BMGC_DS02706,BMG_DS003515,"MONDO: Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. | MeSH: Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA."
+BMGC_DS02707,BMG_DS003516,"MONDO: A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. | MeSH: Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates."
+BMGC_DS02708,BMG_DS003517,MeSH: The presence of fungi circulating in the blood. Opportunistic fungal sepsis is seen most often in immunosuppressed patients with severe neutropenia or in postoperative patients with intravenous catheters and usually follows prolonged antibiotic therapy.
+BMGC_DS02709,BMG_DS003518,"MONDO: A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries. | MeSH: A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES."
+BMGC_DS02710,BMG_DS003519,"MONDO: Neurological disease involving the motor neuron. | MeSH: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS02711,BMG_DS003520,MONDO: Any disorder affecting blood flow through the veins or arteries outside of the heart. | MeSH: Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.
+BMGC_DS02712,BMG_DS003521,"MONDO: Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva). | MeSH: An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease."
+BMGC_DS02713,BMG_DS003522,"MONDO: New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation. | MeSH: New blood vessels originating from the corneal blood vessels and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION."
+BMGC_DS02714,BMG_DS003523,"MONDO: Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. | MeSH: Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID)."
+BMGC_DS02715,BMG_DS003524,"MeSH: Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy."
+BMGC_DS02716,BMG_DS003525,MeSH: Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.
+BMGC_DS02717,BMG_DS003526,"MONDO: A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. | MeSH: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)"
+BMGC_DS02718,BMG_DS003527,MONDO: Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. | MeSH: Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
+BMGC_DS02719,BMG_DS003528,"MONDO: A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia. | MeSH: Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges."
+BMGC_DS02720,BMG_DS003529,"MONDO: An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. | MeSH: Benign or malignant tumors which arise from the choroid plexus of the ventricles of the brain. Papillomas (see PAPILLOMA, CHOROID PLEXUS) and carcinomas are the most common histologic subtypes, and tend to seed throughout the ventricular and subarachnoid spaces. Clinical features include headaches, ataxia and alterations of consciousness, primarily resulting from associated HYDROCEPHALUS. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072; J Neurosurg 1998 Mar;88(3):521-8)"
+BMGC_DS02721,BMG_DS003530,"MONDO: A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence. | MeSH: A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. SAD (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (PHOTOTHERAPY), during the season of recurrence."
+BMGC_DS02722,BMG_DS003531,"MONDO: An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland. | MeSH: The inflammation of a sweat gland (usually of the apocrine type). The condition can be idiopathic or occur as a result of or in association with another underlying condition. Neutrophilic eccrine hidradenitis is a relatively rare variant that has been reported in patients undergoing chemotherapy, usually for non-Hodgkin lymphomas or leukemic conditions."
+BMGC_DS02723,BMG_DS003532,"MONDO: Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. | MeSH: Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli."
+BMGC_DS02724,BMG_DS003533,"MONDO: An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast. | MeSH: Unusual tumor affecting any site of the body, but most often encountered in the head and neck. Considerable debate has surrounded the histogenesis of this neoplasm; however, it is considered to be a myoblastoma of, usually, a benign nature. It affects women more often than men. When it develops beneath the epidermis or mucous membrane, it can lead to proliferation of the squamous cells and mimic squamous cell carcinoma."
+BMGC_DS02725,BMG_DS003534,"MONDO: A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93) | MeSH: A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)"
+BMGC_DS02726,BMG_DS003535,MONDO: Carbohydrate intolerance first diagnosed during pregnancy. | MeSH: Diabetes mellitus induced by PREGNANCY but resolved at the end of pregnancy. It does not include previously diagnosed diabetics who become pregnant (PREGNANCY IN DIABETICS). Gestational diabetes usually develops in late pregnancy when insulin antagonistic hormones peaks leading to INSULIN RESISTANCE; GLUCOSE INTOLERANCE; and HYPERGLYCEMIA.
+BMGC_DS02727,BMG_DS003536,"MONDO: A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5) | MeSH: A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)"
+BMGC_DS02728,BMG_DS003537,"MONDO: Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. | MeSH: Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene."
+BMGC_DS02729,BMG_DS003538,"MeSH: A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005)"
+BMGC_DS02730,BMG_DS003539,"MeSH: Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal."
+BMGC_DS02731,BMG_DS003541,"MONDO: A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. | MeSH: Systemic-onset rheumatoid arthritis in adults. It differs from classical rheumatoid arthritis in that it is more often marked by acute febrile onset, and generalized lymphadenopathy and hepatosplenomegaly are more prominent."
+BMGC_DS02732,BMG_DS003542,"MONDO: Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. | MeSH: Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called elephant man, apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics."
+BMGC_DS02733,BMG_DS003543,"MONDO: A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter."
+BMGC_DS02734,BMG_DS003544,MONDO: A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis). | MeSH: A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS).
+BMGC_DS02735,BMG_DS003545,"MONDO: A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. | MeSH: Contagious infection with human B19 Parvovirus most commonly seen in school age children and characterized by fever, headache, and rashes of the face, trunk, and extremities. It is often confused with RUBELLA."
+BMGC_DS02736,BMG_DS003547,"MONDO: A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. | MeSH: The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR)."
+BMGC_DS02737,BMG_DS003548,"MONDO: Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. | MeSH: A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2)."
+BMGC_DS02738,BMG_DS003549,"MONDO: Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. | MeSH: A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)"
+BMGC_DS02739,BMG_DS003550,"MONDO: Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. | MeSH: Acute INFLAMMATION of the LIVER in humans; caused by HEPATITIS E VIRUS, a non-enveloped single-stranded RNA virus. Similar to HEPATITIS A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission."
+BMGC_DS02740,BMG_DS003552,"MeSH: A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream."
+BMGC_DS02741,BMG_DS003553,MONDO: Infections with protozoa of the phylum ciliophora. | MeSH: Infections with protozoa of the phylum CILIOPHORA.
+BMGC_DS02742,BMG_DS003556,"MONDO: Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) | MeSH: Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)"
+BMGC_DS02743,BMG_DS003559,"MONDO: A rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). | MeSH: Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA."
+BMGC_DS02744,BMG_DS003561,MeSH: Infections with bacteria of the genus SERRATIA.
+BMGC_DS02745,BMG_DS003563,MeSH: Infections with bacteria of the family NEISSERIACEAE.
+BMGC_DS02746,BMG_DS003564,MeSH: Infections with bacteria of the family PASTEURELLACEAE.
+BMGC_DS02747,BMG_DS003565,MONDO: An disease or disorder caused by infection with Ehrlichia. | MeSH: A tick-borne disease characterized by FEVER; HEADACHE; myalgias; ANOREXIA; and occasionally RASH. It is caused by several bacterial species and can produce disease in DOGS; CATTLE; SHEEP; GOATS; HORSES; and humans. The primary species causing human disease are EHRLICHIA CHAFFEENSIS; ANAPLASMA PHAGOCYTOPHILUM; and Ehrlichia ewingii.
+BMGC_DS02748,BMG_DS003566,"MONDO: POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. | MeSH: A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)"
+BMGC_DS02749,BMG_DS003567,"MONDO: A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. | MeSH: Infections with FUNGI of the phylum MICROSPORIDIA."
+BMGC_DS02750,BMG_DS003568,"MONDO: A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. | MeSH: Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present."
+BMGC_DS02751,BMG_DS003569,"MONDO: Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia. | MeSH: Acquired degenerative dilation or expansion (ectasia) of normal BLOOD VESSELS, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the GASTROINTESTINAL TRACT leading to GASTROINTESTINAL HEMORRHAGE and ANEMIA."
+BMGC_DS02752,BMG_DS003570,MONDO: Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium. | MeSH: Infection with FUNGI of the genus ENCEPHALITOZOON. Lesions commonly occur in the BRAIN and KIDNEY tubules. Other sites of infection in MAMMALS are the LIVER; ADRENAL GLANDS; OPTIC NERVES; RETINA; and MYOCARDIUM.
+BMGC_DS02753,BMG_DS003571,MONDO: Autosomal dominant form of polycystic kidney disease. | MeSH: Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
+BMGC_DS02754,BMG_DS003572,"MONDO: A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8) | MeSH: A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)"
+BMGC_DS02755,BMG_DS003573,MONDO: Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. | MeSH: Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.
+BMGC_DS02756,BMG_DS003574,MONDO: Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. | MeSH: Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.
+BMGC_DS02757,BMG_DS003575,"MONDO: A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals. | MeSH: A reactive vascular proliferation that is characterized by the multiple tumor-like lesions in skin, bone, brain, and other organs. Bacillary angiomatosis is caused by infection with gram-negative Bartonella bacilli (such as BARTONELLA HENSELAE), and is often seen in AIDS patients and other IMMUNOCOMPROMISED HOSTS."
+BMGC_DS02758,BMG_DS003576,"MONDO: Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis. | MeSH: An aseptic, inflammatory arthritis developing secondary to a primary extra-articular infection, most typically of the GASTROINTESTINAL TRACT or UROGENITAL SYSTEM. The initiating trigger pathogens are usually SHIGELLA; SALMONELLA; YERSINIA; CAMPYLOBACTER; or CHLAMYDIA TRACHOMATIS. Reactive arthritis is strongly associated with HLA-B27 ANTIGEN."
+BMGC_DS02759,BMG_DS003577,"MONDO: Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2) | MeSH: Meningeal inflammation produced by CRYPTOCOCCUS NEOFORMANS, an encapsulated yeast that tends to infect individuals with ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature HEADACHE; NAUSEA; PHOTOPHOBIA; focal neurologic deficits; SEIZURES; cranial neuropathies; and HYDROCEPHALUS. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)"
+BMGC_DS02760,BMG_DS003578,"MONDO: Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. | MeSH: Bacterial infections of the leptomeninges and subarachnoid space, frequently involving the cerebral cortex, cranial nerves, cerebral blood vessels, spinal cord, and nerve roots."
+BMGC_DS02761,BMG_DS003579,MONDO: Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts. | MeSH: Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts.
+BMGC_DS02762,BMG_DS003581,"MONDO: A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9) | MeSH: A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE."
+BMGC_DS02763,BMG_DS003583,"MONDO: Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations. | MeSH: A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)"
+BMGC_DS02764,BMG_DS003584,"MONDO: An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. | MeSH: A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY."
+BMGC_DS02765,BMG_DS003585,"MONDO: A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers. | MeSH: A lesion in the skin and subcutaneous tissues due to infections by MYCOBACTERIUM ULCERANS. It was first reported in Uganda, Africa."
+BMGC_DS02766,BMG_DS003586,HPO: Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. [PMID:29493965]
+BMGC_DS02767,BMG_DS003588,MONDO: A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms.
+BMGC_DS02768,BMG_DS003589,"SNOMEDCT_US: A rare autosomal recessive iron metabolism disorder characterised by iron deficiency anaemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive. | MONDO: IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment."
+BMGC_DS02769,BMG_DS003590,HPO: A kind of anemia in which the volume of the red blood cells is normal. [https://orcid.org/0000-0002-0736-9199] | MONDO: Anemia in which the red blood cell volume is normal.
+BMGC_DS02770,BMG_DS003591,"MeSH: A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent."
+BMGC_DS02771,BMG_DS003592,"MONDO: Hypertension that presents without an identifiable cause. | MeSH: Hypertension that occurs without known cause, or preexisting renal disease. Associated polymorphisms for a number of genes have been identified, including AGT, GNB3, and ECE1. OMIM: 145500"
+BMGC_DS02772,BMG_DS003594,"HPO: Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. [https://orcid.org/0009-0006-4530-3154] | MeSH: Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis)."
+BMGC_DS02773,BMG_DS003595,"NCI: Abnormal movement characterized by involuntary jerking and writhing affecting the limbs, trunk, and facial muscles."
+BMGC_DS02774,BMG_DS003596,"HPO: Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [HPO_CONTRIBUTOR:KI_phemming, https://orcid.org/0000-0002-0736-9199] | MeSH: Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM."
+BMGC_DS02775,BMG_DS003598,"MONDO: A liver disease characterized by the liver losing or has lost all of its function. | MeSH: Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)"
+BMGC_DS02776,BMG_DS003599,NCI: A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
+BMGC_DS02777,BMG_DS003600,NCI: A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. | MONDO: A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.
+BMGC_DS02778,BMG_DS003601,"HPO: A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS02779,BMG_DS003602,"NCI: Paralysis that affects one limb. | MeSH: Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body."
+BMGC_DS02780,BMG_DS003604,"HPO: An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. [https://orcid.org/0000-0002-0736-9199] | MONDO: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes."
+BMGC_DS02781,BMG_DS003605,MONDO: A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming. | MeSH: A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.
+BMGC_DS02782,BMG_DS003606,"MONDO: A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation. | MeSH: A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by DISSEMINATED INTRAVASCULAR COAGULATION."
+BMGC_DS02783,BMG_DS003607,"MONDO: Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate. | MeSH: An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown."
+BMGC_DS02784,BMG_DS003608,"MONDO: A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. | MeSH: A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma."
+BMGC_DS02785,BMG_DS003609,"MONDO: A rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. | MeSH: Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9)"
+BMGC_DS02786,BMG_DS003610,"HPO: A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet [PMID:26091664]"
+BMGC_DS02787,BMG_DS003619,"MONDO: A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)."
+BMGC_DS02788,BMG_DS003620,"MONDO: Any disease affecting more than one nerve. | MeSH: A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)"
+BMGC_DS02789,BMG_DS003621,HPO: An abnormally increased chloride concentration in the blood. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS02790,BMG_DS003622,
+BMGC_DS02791,BMG_DS003623,"MONDO: Abnormally high level of phosphate in the blood. | MeSH: A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum."
+BMGC_DS02792,BMG_DS003624,MONDO: Lower than normal levels of phosphates in the circulating blood. | MeSH: A condition of an abnormally low level of PHOSPHATES in the blood.
+BMGC_DS02793,BMG_DS003625,"HPO: Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. [https://orcid.org/0000-0002-0736-9199] | MONDO: A hordeolum that results from infection of a meibomian gland."
+BMGC_DS02794,BMG_DS003629,HPO: A chronic form of gastritis. [https://orcid.org/0000-0002-0736-9199] | MONDO: Inflammation of the stomach that is chronic in nature.
+BMGC_DS02795,BMG_DS003631,NCI: Persistent pyelonephritis. | MONDO: Persistent pyelonephritis.
+BMGC_DS02796,BMG_DS003633,MONDO: OBSOLETE. Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). | MONDO: Pathological processes involving the chondral tissue (cartilage). | MeSH: Pathological processes involving the chondral tissue (CARTILAGE). | MeSH: Softening and degeneration of the CARTILAGE.
+BMGC_DS02797,BMG_DS003635,"MeSH: A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper RESPIRATORY TRACT."
+BMGC_DS02798,BMG_DS003637,MONDO: A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis.
+BMGC_DS02799,BMG_DS003638,"MONDO: The use of alcoholic beverages to excess, either on individual occasions (\"
+BMGC_DS02800,BMG_DS003640,MeSH: Acute idiopathic interstitial pneumonitis characterized by diffuse PULMONARY ALVEOLI damage with uniform edematous connective tissue proliferation. It is often associated with extensive fibroblastic distortion of the lung parenchyma and leads to ADULT RESPIRATORY DISTRESS SYNDROME in later stages.
+BMGC_DS02801,BMG_DS003642,MeSH: Infection with nematodes of the genus STRONGYLOIDES. The presence of larvae may produce pneumonitis and the presence of adult worms in the intestine could lead to moderate to severe diarrhea.
+BMGC_DS02802,BMG_DS003643,NCI: Inflammation of the colon that is caused by an alteration in intestinal flora by antibiotic use. | MeSH: An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization.
+BMGC_DS02803,BMG_DS003644,"NCI: Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum. | MONDO: Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. | MeSH: Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present."
+BMGC_DS02804,BMG_DS003645,"NCI: Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. | MONDO: Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. | MeSH: Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present."
+BMGC_DS02805,BMG_DS003647,"MeSH: Cardiac manifestation of systemic rheumatological conditions, such as RHEUMATIC FEVER. Rheumatic heart disease can involve any part the heart, most often the HEART VALVES and the ENDOCARDIUM."
+BMGC_DS02806,BMG_DS003648,"MeSH: A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)"
+BMGC_DS02807,BMG_DS003652,"MeSH: A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema."
+BMGC_DS02808,BMG_DS003653,"MONDO: An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus. | MeSH: Infection with nematodes of the genus ENTEROBIUS; E. vermicularis, the pinworm of man, causes a crawling sensation and pruritus. This condition results in scratching the area, occasionally causing scarification."
+BMGC_DS02809,BMG_DS003654,"SNOMEDCT_US: An epileptic seizure consisting of sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event, lasting approximately one to two seconds, involving head, trunk, jaw, or limb musculature, regardless of whether focal, generalised, or unknown onset, and whether aware or with impaired awareness. | MeSH: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)"
+BMGC_DS02810,BMG_DS003655,"MeSH: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)"
+BMGC_DS02811,BMG_DS003657,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS02812,BMG_DS003658,"SNOMEDCT_US: An epileptic seizure with a sustained increase in muscle contraction lasting a few seconds to minutes, regardless of whether focal, generalised, or unknown onset, and whether aware or with impaired awareness. | MeSH: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)"
+BMGC_DS02813,BMG_DS003659,"MeSH: A form of necrotizing non-granulomatous inflammation occurring primarily in medium-sized ARTERIES, often with microaneurysms. It is characterized by muscle, joint, and abdominal pain resulting from arterial infarction and scarring in affected organs. Polyarteritis nodosa with lung involvement is called CHURG-STRAUSS SYNDROME."
+BMGC_DS02814,BMG_DS003660,"MeSH: Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene."
+BMGC_DS02815,BMG_DS003661,"MeSH: A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS."
+BMGC_DS02816,BMG_DS003662,"MeSH: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)"
+BMGC_DS02817,BMG_DS003663,"NCI: An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include short stature, cloudy cornea, umbilical hernia, joint stiffening, hepatosplenomegaly, and mental retardation. | MONDO: Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. | MeSH: A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders."
+BMGC_DS02818,BMG_DS003664,"MeSH: Segmental glomerular degeneration with a glassy appearance (hyalinosis) caused by the accumulation of plasma proteins in the glomeruli. | MeSH: A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE."
+BMGC_DS02819,BMG_DS003665,MeSH: An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
+BMGC_DS02820,BMG_DS003666,"NCI: Membranous nephropathy for which no cause has been identified. | MONDO: Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. | MeSH: A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane."
+BMGC_DS02821,BMG_DS003667,MeSH: A recurrent contact dermatitis caused by substances found in the work place.
+BMGC_DS02822,BMG_DS003669,"MeSH: An endemic disease that is characterized by the development of single or multiple localized lesions on exposed areas of skin that typically ulcerate. The disease has been divided into Old and New World forms. Old World leishmaniasis is separated into three distinct types according to epidemiology and clinical manifestations and is caused by species of the L. tropica and L. aethiopica complexes as well as by species of the L. major genus. New World leishmaniasis, also called American leishmaniasis, occurs in South and Central America and is caused by species of the L. mexicana or L. braziliensis complexes."
+BMGC_DS02823,BMG_DS003671,"MONDO: Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) | MeSH: Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)"
+BMGC_DS02824,BMG_DS003674,"NCI: Evidence of nutritional marasmus. | MONDO: The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses. | MeSH: The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses."
+BMGC_DS02825,BMG_DS003675,"MONDO: A neurological syndrome caused by severe mercury poisoning. | MeSH: Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)"
+BMGC_DS02826,BMG_DS003676,"NCI: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. | MONDO: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. | MeSH: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme."
+BMGC_DS02827,BMG_DS003677,"NCI: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. | MONDO: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. | MeSH: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme."
+BMGC_DS02828,BMG_DS003678,"NCI: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. | MONDO: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. | MeSH: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme."
+BMGC_DS02829,BMG_DS003679,"NCI: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. | MONDO: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. | MeSH: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme."
+BMGC_DS02830,BMG_DS003680,NCI: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. | MONDO: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
+BMGC_DS02831,BMG_DS003681,NCI: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. | MONDO: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.
+BMGC_DS02832,BMG_DS003682,NCI: Herniation of spinal cord tissue through a defect in a region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface.
+BMGC_DS02833,BMG_DS003683,"MeSH: Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION."
+BMGC_DS02834,BMG_DS003684,"MONDO: A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites."
+BMGC_DS02835,BMG_DS003685,"MeSH: A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans."
+BMGC_DS02836,BMG_DS003686,"NCI: A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells. | MONDO: A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells."
+BMGC_DS02837,BMG_DS003687,"ORPHANET: Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. | MONDO: Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures."
+BMGC_DS02838,BMG_DS003689,"NCI: An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues. | MONDO: Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. | MeSH: A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders."
+BMGC_DS02839,BMG_DS003690,"MeSH: Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy."
+BMGC_DS02840,BMG_DS003691,"ORPHANET: Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. | MONDO: Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. | MeSH: Absence of hair from areas where it is normally present."
+BMGC_DS02841,BMG_DS003692,"MeSH: A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections."
+BMGC_DS02842,BMG_DS003696,"NCI: A constellation of symptoms that include abnormal dryness of the mouth, eyes and other mucous membranes. The condition is seen in patients with Sjogren syndrome, sarcoidosis, amyloidosis, and deficiencies of vitamins A and C. | MeSH: Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis."
+BMGC_DS02843,BMG_DS003697,"MeSH: A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)"
+BMGC_DS02844,BMG_DS003698,"NCI: An inflammatory disorder most often affecting children. It is characterized by the presence of arthritis, salmon-colored rash, spiking fevers, fatigue, and sore throats. | MeSH: Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent."
+BMGC_DS02845,BMG_DS003701,MONDO: Acute form of dacryoadenitis.
+BMGC_DS02846,BMG_DS003702,MONDO: Chronic form of dacryocystitis.
+BMGC_DS02847,BMG_DS003703,"MONDO: Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. | MeSH: Inflammation of the loose connective tissues around the ORBIT, bony structure around the eyeball. It is characterized by PAIN; EDEMA of the CONJUNCTIVA; swelling of the EYELIDS; EXOPHTHALMOS; limited eye movement; and loss of vision."
+BMGC_DS02848,BMG_DS003705,HPO: An acute form of sinusitis. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS02849,BMG_DS003706,
+BMGC_DS02850,BMG_DS003707,
+BMGC_DS02851,BMG_DS003708,HPO: A chronic form of sinusitis. [https://orcid.org/0000-0002-0736-9199] | MONDO: Chronic form of sinusitis.
+BMGC_DS02852,BMG_DS003709,
+BMGC_DS02853,BMG_DS003711,"MeSH: INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors."
+BMGC_DS02854,BMG_DS003713,"NCI: A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. | MONDO: A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. | MeSH: INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse."
+BMGC_DS02855,BMG_DS003715,"NCI: An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain. | MONDO: An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain."
+BMGC_DS02856,BMG_DS003717,HPO: Calcium deposits in the prostate gland. [] | MONDO: A concretion in the prostate.
+BMGC_DS02857,BMG_DS003718,MONDO: A urticaria with a basis in a pathological type I hypersensitivity reaction.
+BMGC_DS02858,BMG_DS003719,"ORPHANET: Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic. | MONDO: Heart block that occurs on or before 28 days of life."
+BMGC_DS02859,BMG_DS003721,"MONDO: OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). | MeSH: Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES."
+BMGC_DS02860,BMG_DS003725,NCI: A malignant epithelial neoplasm that arises from the cecum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. | MONDO: A carcinoma that arises from epithelial cells of the caecum
+BMGC_DS02861,BMG_DS003726,NCI: Inflammation of the cervical lymph nodes. | MONDO: Inflammation of the cervical lymph nodes.
+BMGC_DS02862,BMG_DS003728,"MONDO: Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. | MeSH: Blocking of a blood vessel by CHOLESTEROL-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset."
+BMGC_DS02863,BMG_DS003731,"MONDO: A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. | MeSH: A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994)"
+BMGC_DS02864,BMG_DS003732,"NCI: An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance. | MONDO: A disease that has its basis in the disruption of carbohydrate metabolic process."
+BMGC_DS02865,BMG_DS003733,"MONDO: An infection that is caused by Epstein-Barr virus. | MeSH: Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY)."
+BMGC_DS02866,BMG_DS003735,
+BMGC_DS02867,BMG_DS003736,MeSH: Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.
+BMGC_DS02868,BMG_DS003737,"NCI: An acute or chronic, viral or bacterial infectious process that affects the lower respiratory tract."
+BMGC_DS02869,BMG_DS003738,"MeSH: A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842)"
+BMGC_DS02870,BMG_DS003740,"MONDO: Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related. | MeSH: Inflammation of the plantar fascia (APONEUROSIS) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related."
+BMGC_DS02871,BMG_DS003746,HPO: Pneumothorax occurring without traumatic injury to the chest or lung. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS02872,BMG_DS003747,"HPO: A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells. [https://orcid.org/0000-0002-0736-9199] | MONDO: A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma."
+BMGC_DS02873,BMG_DS003754,
+BMGC_DS02874,BMG_DS003760,NCI: A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative. | MONDO: A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative.
+BMGC_DS02875,BMG_DS003761,MONDO: An bursitis involving a pathogenic inflammatory response in the calcaneal tendon.
+BMGC_DS02876,BMG_DS003766,"MeSH: Inflammation involving the GLOTTIS or VOCAL CORDS and the subglottic larynx. Croup is characterized by a barking cough, HOARSENESS, and persistent inspiratory STRIDOR (a high-pitched breathing sound). It occurs chiefly in infants and children."
+BMGC_DS02877,BMG_DS003767,MONDO: Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis. | MeSH: Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS.
+BMGC_DS02878,BMG_DS003768,"NCI: A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity. | MeSH: The formation or presence of a blood clot (THROMBUS) within a vein."
+BMGC_DS02879,BMG_DS003770,"HPO: Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS02880,BMG_DS003773,MONDO: A disorder involving inflammation of the epididymis and testes.
+BMGC_DS02881,BMG_DS003775,"HPO: A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. [HPO_CONTRIBUTOR:jalbers, PMID:19125841, PMID:6779259, PMID:972656] | MeSH: Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)"
+BMGC_DS02882,BMG_DS003776,"MONDO: Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). | MeSH: A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip."
+BMGC_DS02883,BMG_DS003778,
+BMGC_DS02884,BMG_DS003780,
+BMGC_DS02885,BMG_DS003783,"NCI: Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. | MONDO: Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function."
+BMGC_DS02886,BMG_DS003784,"MeSH: An extremely variable eczematous skin disease that is presumed to be a response to prolonged vigorous scratching, rubbing, or pinching to relieve intense pruritus. It varies in intensity, severity, course, and morphologic expression in different individuals. Neurodermatitis is believed by some to be psychogenic. The circumscribed or localized form is often referred to as lichen simplex chronicus."
+BMGC_DS02887,BMG_DS003785,"MONDO: Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure."
+BMGC_DS02888,BMG_DS003787,"MONDO: A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. | MeSH: A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS02889,BMG_DS003788,NCI: Renal damage and impaired renal function secondary to urinary tract obstruction. | MONDO: Renal damage and impaired renal function secondary to urinary tract obstruction.
+BMGC_DS02890,BMG_DS003789,"MONDO: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363) | MeSH: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)"
+BMGC_DS02891,BMG_DS003791,MONDO: Acute form of otitis externa.
+BMGC_DS02892,BMG_DS003792,HPO: The presence of a fibroma of the ovary. [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.
+BMGC_DS02893,BMG_DS003793,NCI: A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance. | MONDO: Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum.
+BMGC_DS02894,BMG_DS003799,
+BMGC_DS02895,BMG_DS003803,"MONDO: An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma."
+BMGC_DS02896,BMG_DS003806,"NCI: The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. | MONDO: The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage."
+BMGC_DS02897,BMG_DS003816,"MeSH: Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS02898,BMG_DS003817,"MONDO: A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome. | MeSH: Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ISCHEMIA; traumatic injury; compression; CONNECTIVE TISSUE DISEASES; CUMULATIVE TRAUMA DISORDERS; and other conditions."
+BMGC_DS02899,BMG_DS003818,NCI: Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. | MONDO: Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.
+BMGC_DS02900,BMG_DS003819,MONDO: Inflammation or degeneration of the sensory nerves.
+BMGC_DS02901,BMG_DS003820,HPO: Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. [] | MeSH: Infection which lasts for a long period with continuous display of clinical features. Persistent infection arises due to inability of host cells to clear primary infections completely. When persistent infections are cleared so that infection symptoms are under control they are often referred to as chronic infections. LATENT INFECTIONS are infections in which manifestation of clinical symptoms appear later.
+BMGC_DS02902,BMG_DS003822,"MONDO: Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease."
+BMGC_DS02903,BMG_DS003825,"MONDO: Inflammation of the small vessels of the skin that is mediated by the immune system. | MeSH: Disorder characterized by a vasculitic syndrome associated with exposure to an antigen such as a drug, infectious agent, or other foreign or endogenous substance. Its pathophysiology includes immune complex deposition and a wide range of skin lesions. Hypersensitivity or allergy is present in some but not all cases."
+BMGC_DS02904,BMG_DS003832,"NCI: A life threatening condition due to inadequate levels of glucocorticoids in an individual with adrenal insufficiency. | MONDO: Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made."
+BMGC_DS02905,BMG_DS003833,"NCI: A benign, encapsulated neoplasm arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics."
+BMGC_DS02906,BMG_DS003834,
+BMGC_DS02907,BMG_DS003835,NCI: Anemia caused by folate deficiency.
+BMGC_DS02908,BMG_DS003837,HPO: Partial or complete wasting (atrophy) of the skin. [https://orcid.org/0000-0002-0736-9199] | MONDO: The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging.
+BMGC_DS02909,BMG_DS003838,"HPO: Developmental hypoplasia of the thyroid gland. [https://orcid.org/0000-0002-0736-9199] | MONDO: Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. | MeSH: Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM."
+BMGC_DS02910,BMG_DS003839,NCI: A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) | MONDO: A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)
+BMGC_DS02911,BMG_DS003841,"NCI: A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. | MONDO: A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma."
+BMGC_DS02912,BMG_DS003843,
+BMGC_DS02913,BMG_DS003848,HPO: Passage of many stools containing blood. []
+BMGC_DS02914,BMG_DS003849,"MONDO: Encephalopathy resulting from hypertension. | MeSH: Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE."
+BMGC_DS02915,BMG_DS003850,"NCI: A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma. | MONDO: A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma."
+BMGC_DS02916,BMG_DS003852,MeSH: A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases.
+BMGC_DS02917,BMG_DS003853,"MONDO: A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies."
+BMGC_DS02918,BMG_DS003854,"HPO: Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. [https://orcid.org/0000-0002-0736-9199, PMID:16408108] | MONDO: A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis."
+BMGC_DS02919,BMG_DS003857,NCI: A rupture in the wall of any structure of the digestive system caused by traumatic or pathologic processes.
+BMGC_DS02920,BMG_DS003859,HPO: An decreased concentration of high-density lipoprotein cholesterol in the blood. [HPO_CONTRIBUTOR:gcarletti] | MONDO: A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood.
+BMGC_DS02921,BMG_DS003860,
+BMGC_DS02922,BMG_DS003861,
+BMGC_DS02923,BMG_DS003862,"HPO: Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS02924,BMG_DS003863,"HPO: An abnormally decreased magnesium concentration in the blood. [https://orcid.org/0000-0002-0736-9199] | MONDO: A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration."
+BMGC_DS02925,BMG_DS003864,MeSH: Formation of infarct resulting from obstruction of HEPATIC ARTERY and/or PORTAL VEIN most often after LIVER TRANSPLANTATION or hepatobiliary surgery.
+BMGC_DS02926,BMG_DS003865,"MONDO: A finding characterized by increased cerebrospinal fluid pressure within the skull. | MeSH: Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders."
+BMGC_DS02927,BMG_DS003866,"MONDO: A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). | MeSH: A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)."
+BMGC_DS02928,BMG_DS003867,MONDO: A disease that involves the renal tubule.
+BMGC_DS02929,BMG_DS003868,"NCI: A laboratory finding indicating decreased number of hematopoietic cells in the bone marrow. It may result from decreased proliferation of all or part of the hematopoietic series (erythroid, myeloid, and megakaryocytic). Microscopically, the hematopoietic cells are replaced by adipocytes."
+BMGC_DS02930,BMG_DS003869,"HPO: The presence of a melanoma of the skin. [https://orcid.org/0000-0002-0736-9199] | MONDO: A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma."
+BMGC_DS02931,BMG_DS003870,
+BMGC_DS02932,BMG_DS003873,NCI: A necrotic process affecting the hepatic parenchyma.
+BMGC_DS02933,BMG_DS003874,"MeSH: Complete blockage of blood flow through one of the CORONARY ARTERIES, usually from CORONARY ATHEROSCLEROSIS."
+BMGC_DS02934,BMG_DS003875,
+BMGC_DS02935,BMG_DS003877,NCI: Abnormally high cell count in a body fluid. | MeSH: A transient increase in the number of leukocytes in a body fluid.
+BMGC_DS02936,BMG_DS003880,HPO: Abnormally increased excretion of porphyrins in the urine. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS02937,BMG_DS003881,"MONDO: A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor."
+BMGC_DS02938,BMG_DS003883,
+BMGC_DS02939,BMG_DS003885,"NCI: Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above. | MONDO: An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes."
+BMGC_DS02940,BMG_DS003888,"HPO: Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS02941,BMG_DS003889,"HPO: Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS02942,BMG_DS003895,"HPO: Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. [https://orcid.org/0000-0002-0736-9199] | MONDO: An ulcerated lesion in the esophageal wall."
+BMGC_DS02943,BMG_DS003896,
+BMGC_DS02944,BMG_DS003900,"MONDO: A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. | MeSH: A carcinoma originating in the lung and the most common lung cancer type in never-smokers. Malignant cells exhibit distinct features such as glandular epithelial, or tubular morphology. Mutations in KRAS, EGFR, BRAF, and ERBB2 genes are associated with this cancer."
+BMGC_DS02945,BMG_DS003902,"HPO: The presence of a carcinoma of the esophagus. [https://orcid.org/0000-0002-6410-0882, NCIT:C3513] | MONDO: Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC)."
+BMGC_DS02946,BMG_DS003903,MONDO: Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. | MeSH: Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS.
+BMGC_DS02947,BMG_DS003904,"MONDO: A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale."
+BMGC_DS02948,BMG_DS003906,"MONDO: A disease or disorder affecting more than one nerve. | MeSH: Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance."
+BMGC_DS02949,BMG_DS003907,"MONDO: Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis. | MeSH: Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS."
+BMGC_DS02950,BMG_DS003908,"MeSH: Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM)."
+BMGC_DS02951,BMG_DS003910,"NCI: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. | MONDO: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. | MeSH: An acute infection characterized by recurrent episodes of PYREXIA alternating with asymptomatic intervals of apparent recovery. This condition is caused by SPIROCHETES of the genus BORRELIA. It is transmitted by the BITES of either the body louse (PEDICULUS humanus corporis), for which humans are the reservoir, or by soft ticks of the genus ORNITHODOROS, for which rodents and other animals are the principal reservoirs."
+BMGC_DS02952,BMG_DS003913,"MONDO: A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol. | MeSH: A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol."
+BMGC_DS02953,BMG_DS003914,"MONDO: A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions."
+BMGC_DS02954,BMG_DS003915,MONDO: An disease or disorder caused by infection with Echinococcus granulosus.
+BMGC_DS02955,BMG_DS003916,ORPHANET: A rare parasitic disorder that occurs after ingestion of eggs of &lt;i&gt;Echinococcus multilocularis&lt;/i&gt; and characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice. | MONDO: Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.
+BMGC_DS02956,BMG_DS003918,"NCI: An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. | MONDO: An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection."
+BMGC_DS02957,BMG_DS003919,MONDO: An malaria caused by infection with Plasmodium ovale.
+BMGC_DS02958,BMG_DS003920,
+BMGC_DS02959,BMG_DS003922,
+BMGC_DS02960,BMG_DS003923,
+BMGC_DS02961,BMG_DS003924,MONDO: A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix.
+BMGC_DS02962,BMG_DS003925,
+BMGC_DS02963,BMG_DS003926,NCI: Arthropathy that is not permanent. | MONDO: Arthropathy that is not permanent.
+BMGC_DS02964,BMG_DS003927,
+BMGC_DS02965,BMG_DS003928,
+BMGC_DS02966,BMG_DS003930,"MONDO: A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury."
+BMGC_DS02967,BMG_DS003934,MONDO: Dermatitis herpetiformis in children
+BMGC_DS02968,BMG_DS003935,
+BMGC_DS02969,BMG_DS003936,"ORPHANET: A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive."
+BMGC_DS02970,BMG_DS003937,"MONDO: Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation."
+BMGC_DS02971,BMG_DS003939,MONDO: A disease involving the diaphragm.
+BMGC_DS02972,BMG_DS003940,"MONDO: Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal. | MeSH: Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSEA, and VOMITING. There is pain on palpation of the right upper quadrant and sometimes JAUNDICE. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal."
+BMGC_DS02973,BMG_DS003941,"MONDO: Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. | MeSH: A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes."
+BMGC_DS02974,BMG_DS003942,NCI: Evidence of kyphoscoliotic heart disease.
+BMGC_DS02975,BMG_DS003943,"NCI: Heart conditions that are caused by high blood pressure, including coronary artery disease and heart failure. | MONDO: Abnormal enlargement of the heart resulting from long-standing hypertension."
+BMGC_DS02976,BMG_DS003944,"MONDO: A pericarditis characterized by inflammation, occurring after injury, located in pericardium."
+BMGC_DS02977,BMG_DS003945,"NCI: A hypersensitivity pneumonitis associated with the inhalation of cork dust. The etiologic agents are fungi, including Penicillium glabrum and Aspergillus fumigatus, that colonize the cork and are released during cork processing. | MONDO: An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia."
+BMGC_DS02978,BMG_DS003946,"NCI: A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult. | MONDO: Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. | MeSH: A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)"
+BMGC_DS02979,BMG_DS003948,"MONDO: An eye disorder characterized by an insidious reduction in vision in one eye, accompanied by clinically significant papilledema in the fellow eye. The unilateral loss of vision and optic atrophy is due to compressive optic atrophy, which causes elevated intracranial pressure that leads to swelling in the fellow eye. | MeSH: Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect."
+BMGC_DS02980,BMG_DS003949,"MONDO: A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures. | MeSH: Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS02981,BMG_DS003950,"MONDO: Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. | MeSH: Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS02982,BMG_DS003951,"NCI: A rare movement disorder of unknown etiology, characterized by painful, involuntary turns of the head to the right, left, upwards, or downwards. | MONDO: Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery."
+BMGC_DS02983,BMG_DS003953,
+BMGC_DS02984,BMG_DS003954,"MeSH: A photochemical injury to retina tissues, usually at the RETINAL PIGMENT EPITHELIUM. It is commonly associated with sungazing, eclipse viewing, welding, or using a laser pointer without proper eye protection resulting in subjective visual disturbances (e.g., floaters) and reduced VISUAL ACUITY."
+BMGC_DS02985,BMG_DS003955,MONDO: Retinopathy due to hypertension. | MeSH: Degenerative changes to the RETINA due to HYPERTENSION.
+BMGC_DS02986,BMG_DS003956,"HPO: An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. [https://orcid.org/0000-0002-0736-9199, PMID:1344079, PMID:21687160, PMID:25145891] | MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS02987,BMG_DS003957,
+BMGC_DS02988,BMG_DS003958,MONDO: A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure. | MeSH: A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.
+BMGC_DS02989,BMG_DS003959,"MONDO: An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens."
+BMGC_DS02990,BMG_DS003960,
+BMGC_DS02991,BMG_DS003962,
+BMGC_DS02992,BMG_DS003963,"NCI: A condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor. | MONDO: A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting."
+BMGC_DS02993,BMG_DS003964,
+BMGC_DS02994,BMG_DS003965,
+BMGC_DS02995,BMG_DS003967,MONDO: Increased blood pressure in the arteries of the lungs; the etiology is unknown.
+BMGC_DS02996,BMG_DS003971,"MONDO: A disease involving the vagus nerve. | MeSH: Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen."
+BMGC_DS02997,BMG_DS003972,MONDO: A disease involving the accessory XI nerve.
+BMGC_DS02998,BMG_DS003973,MONDO: A disease involving the hypoglossal nerve.
+BMGC_DS02999,BMG_DS003974,
+BMGC_DS03000,BMG_DS003976,
+BMGC_DS03001,BMG_DS003977,
+BMGC_DS03002,BMG_DS003978,
+BMGC_DS03003,BMG_DS003979,
+BMGC_DS03004,BMG_DS003980,HPO: A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. []
+BMGC_DS03005,BMG_DS003981,
+BMGC_DS03006,BMG_DS003982,
+BMGC_DS03007,BMG_DS003983,MONDO: Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.
+BMGC_DS03008,BMG_DS003984,"NCI: An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in which the individual can only perceive black, white, or shades or gray, or incomplete, in which the individual has a residual amount of color vision. | MONDO: Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. | MeSH: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue."
+BMGC_DS03009,BMG_DS003985,MONDO: An instance of night blindness that is acquired during the lifetime of the individual.
+BMGC_DS03010,BMG_DS003986,"HPO: Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing. [] | MeSH: Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)"
+BMGC_DS03011,BMG_DS003987,"MONDO: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. | MeSH: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze."
+BMGC_DS03012,BMG_DS003988,HPO: Esotropia in which either eye may be used for fixation. [https://orcid.org/0000-0003-0986-4123]
+BMGC_DS03013,BMG_DS003989,"MeSH: A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction."
+BMGC_DS03014,BMG_DS003990,"HPO: A type of exotropia in which either eye may be used for fixation. [https://orcid.org/0000-0003-0986-4123] | MONDO: A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. | MeSH: A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction."
+BMGC_DS03015,BMG_DS003991,HPO: A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. [https://orcid.org/0000-0003-0986-4123] | MONDO: Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye.
+BMGC_DS03016,BMG_DS003992,HPO: A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). [https://orcid.org/0000-0003-0986-4123]
+BMGC_DS03017,BMG_DS003993,
+BMGC_DS03018,BMG_DS003998,"HPO: A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. [] | MeSH: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze."
+BMGC_DS03019,BMG_DS004001,"HPO: A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. [https://orcid.org/0000-0003-0986-4123] | MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS03020,BMG_DS004003,HPO: An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. [https://orcid.org/0000-0003-0986-4123]
+BMGC_DS03021,BMG_DS004004,"NCI: A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. | MONDO: A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. | MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS03022,BMG_DS004005,"MeSH: Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)"
+BMGC_DS03023,BMG_DS004008,MeSH: Inability to close eyelids completely.
+BMGC_DS03024,BMG_DS004009,"HPO: Abnormally increased lacrimation, that is, excessive tearing (watering eye). [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:28003974] | MONDO: Profuse lacrimation."
+BMGC_DS03025,BMG_DS004015,MeSH: A congenital duplication of the UTERUS in which a septum is formed separating the uterus. The partitioning septum can also separate the CERVIX and VAGINA.
+BMGC_DS03026,BMG_DS004016,"HPO: Blocked mammary ducts represent an area of localized milk stasis, typically associated with breast engorgement and resulting in a localized tender breast lump or area of blushed color; the breast may feel hot; and there may be a white, painful bleb on the end of the nipple. [PMID:23449233] | MONDO: Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice."
+BMGC_DS03027,BMG_DS004019,
+BMGC_DS03028,BMG_DS004020,MONDO: A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations.
+BMGC_DS03029,BMG_DS004023,HPO: Adhesions between the iris and the lens. [HPO_CONTRIBUTOR:DDD_ncarter]
+BMGC_DS03030,BMG_DS004024,MONDO: A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus. | MeSH: A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS.
+BMGC_DS03031,BMG_DS004026,
+BMGC_DS03032,BMG_DS004027,MONDO: A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag.
+BMGC_DS03033,BMG_DS004029,NCI: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells. | MONDO: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells.
+BMGC_DS03034,BMG_DS004031,NCI: Polycythemia that occurs in groups of related individuals. | MONDO: Polycythemia that occurs in groups of related individuals.
+BMGC_DS03035,BMG_DS004032,"NCI: A subtype of classic Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008) | MONDO: A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)"
+BMGC_DS03036,BMG_DS004033,"NCI: A diffuse subtype of classic Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008) | MONDO: A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)"
+BMGC_DS03037,BMG_DS004034,"NCI: A subtype of classic Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008) | MONDO: A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008)"
+BMGC_DS03038,BMG_DS004035,
+BMGC_DS03039,BMG_DS004036,
+BMGC_DS03040,BMG_DS004037,"MONDO: A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)"
+BMGC_DS03041,BMG_DS004039,"HPO: Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. [PMID:19125428] | MONDO: A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth."
+BMGC_DS03042,BMG_DS004040,"ORPHANET: A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy."
+BMGC_DS03043,BMG_DS004041,"NCI: A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus. | MONDO: Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths."
+BMGC_DS03044,BMG_DS004042,HPO: Absence of the crystalline lens of the eye as a result of a developmental defect. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03045,BMG_DS004043,NCI: A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth. | MONDO: Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.
+BMGC_DS03046,BMG_DS004044,"MONDO: A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms. | MeSH: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits."
+BMGC_DS03047,BMG_DS004047,"HPO: A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS03048,BMG_DS004048,MONDO: An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision. | MeSH: A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.
+BMGC_DS03049,BMG_DS004049,
+BMGC_DS03050,BMG_DS004052,HPO: The presence of a diverticulum (sac or pouch) in the wall of the urethra. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03051,BMG_DS004054,
+BMGC_DS03052,BMG_DS004056,"NCI: A chronic, persistent inflammation of the glomeruli, which is slowly progressive, leading to impaired kidney function."
+BMGC_DS03053,BMG_DS004057,
+BMGC_DS03054,BMG_DS004059,"MONDO: An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia."
+BMGC_DS03055,BMG_DS004060,MONDO: A disorder characterized by a change in the gallbladder wall due to excess cholesterol.
+BMGC_DS03056,BMG_DS004061,HPO: Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. [https://orcid.org/0000-0002-5316-1399]
+BMGC_DS03057,BMG_DS004062,HPO: An abnormal white reflection from the pupil rather than the usual black reflection. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03058,BMG_DS004063,"NCI: A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis. | MONDO: A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis."
+BMGC_DS03059,BMG_DS004065,NCI: Sepsis due to the presence of Salmonella bacteria in the bloodstream.
+BMGC_DS03060,BMG_DS004072,
+BMGC_DS03061,BMG_DS004073,
+BMGC_DS03062,BMG_DS004079,
+BMGC_DS03063,BMG_DS004080,
+BMGC_DS03064,BMG_DS004081,
+BMGC_DS03065,BMG_DS004082,NCI: Gastroenteritis resulting from a viral infection.
+BMGC_DS03066,BMG_DS004086,
+BMGC_DS03067,BMG_DS004094,MONDO: A pneumothorax in which air enters into the pleural cavity.
+BMGC_DS03068,BMG_DS004102,
+BMGC_DS03069,BMG_DS004107,MONDO: A tuberculosis that involves the urinary bladder.
+BMGC_DS03070,BMG_DS004108,MONDO: A tuberculosis that involves the ureter.
+BMGC_DS03071,BMG_DS004109,MONDO: An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis.
+BMGC_DS03072,BMG_DS004111,
+BMGC_DS03073,BMG_DS004114,
+BMGC_DS03074,BMG_DS004117,MONDO: A tuberculosis that involves the esophagus.
+BMGC_DS03075,BMG_DS004120,"MONDO: A plague in which the bacteria have entered the bloodstream. | MeSH: An acute infectious disease caused by YERSINIA PESTIS that affects humans, wild rodents, and their ectoparasites. This condition persists due to its firm entrenchment in sylvatic rodent-flea ecosystems throughout the world. Bubonic plague is the most common form."
+BMGC_DS03076,BMG_DS004121,
+BMGC_DS03077,BMG_DS004122,
+BMGC_DS03078,BMG_DS004123,MONDO: A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.
+BMGC_DS03079,BMG_DS004124,
+BMGC_DS03080,BMG_DS004125,MONDO: A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear.
+BMGC_DS03081,BMG_DS004126,"MONDO: An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite."
+BMGC_DS03082,BMG_DS004127,
+BMGC_DS03083,BMG_DS004129,MONDO: An myocarditis caused by infection with Corynebacterium diphtheriae.
+BMGC_DS03084,BMG_DS004130,MONDO: A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.
+BMGC_DS03085,BMG_DS004131,MONDO: A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder.
+BMGC_DS03086,BMG_DS004138,
+BMGC_DS03087,BMG_DS004140,
+BMGC_DS03088,BMG_DS004143,MONDO: A poliomyelitis that does not exhibit paralysis.
+BMGC_DS03089,BMG_DS004153,
+BMGC_DS03090,BMG_DS004158,
+BMGC_DS03091,BMG_DS004161,NCI: A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. | MONDO: A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2.
+BMGC_DS03092,BMG_DS004176,"MONDO: An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders. | MeSH: A form of arboviral encephalitis (which primarily affects horses) endemic to western and central regions of NORTH AMERICA. The causative organism (ENCEPHALOMYELITIS VIRUS, WESTERN EQUINE) may be transferred to humans via the bite of mosquitoes (CULEX tarsalis and others). Clinical manifestations include headache and influenza-like symptoms followed by alterations in mentation, SEIZURES, and COMA. DEATH occurs in a minority of cases. Survivors may recover fully or be left with residual neurologic dysfunction, including PARKINSONISM, POSTENCEPHALITIC. (From Joynt, Clinical Neurology, 1996, Ch26, pp8-9)"
+BMGC_DS03093,BMG_DS004177,"MONDO: Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality. | MeSH: A form of arboviral encephalitis (primarily affecting equines) endemic to eastern regions of North America. The causative organism (ENCEPHALOMYELITIS VIRUS, EASTERN EQUINE) may be transmitted to humans via the bite of AEDES mosquitoes. Clinical manifestations include the acute onset of fever, HEADACHE, altered mentation, and SEIZURES followed by coma. The condition is fatal in up to 50% of cases. Recovery may be marked by residual neurologic deficits and EPILEPSY. (From Joynt, Clinical Neurology, 1996, Ch26, pp9-10)"
+BMGC_DS03094,BMG_DS004178,MONDO: An disease caused by infection with Murray Valley encephalitis virus.
+BMGC_DS03095,BMG_DS004201,
+BMGC_DS03096,BMG_DS004202,
+BMGC_DS03097,BMG_DS004205,"MeSH: Idiopathic inflammation of the VESTIBULAR NERVE, characterized clinically by the acute or subacute onset of VERTIGO; NAUSEA; and imbalance. The COCHLEAR NERVE is typically spared and HEARING LOSS and TINNITUS do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)"
+BMGC_DS03098,BMG_DS004211,MONDO: A malaria that involves infection with more than one species of Plasmodium at the same time.
+BMGC_DS03099,BMG_DS004217,"MeSH: Infections of the central nervous system caused by TREPONEMA PALLIDUM which present with a variety of clinical syndromes. The initial phase of infection usually causes a mild or asymptomatic meningeal reaction. The meningovascular form may present acutely as BRAIN INFARCTION. The infection may also remain subclinical for several years. Late syndromes include general paresis; TABES DORSALIS; meningeal syphilis; syphilitic OPTIC ATROPHY; and spinal syphilis. General paresis is characterized by progressive DEMENTIA; DYSARTHRIA; TREMOR; MYOCLONUS; SEIZURES; and Argyll-Robertson pupils. (Adams et al., Principles of Neurology, 6th ed, pp722-8)"
+BMGC_DS03100,BMG_DS004220,
+BMGC_DS03101,BMG_DS004221,
+BMGC_DS03102,BMG_DS004238,MONDO: An infectious meningitis caused by infection with Treponema.
+BMGC_DS03103,BMG_DS004239,"MeSH: Infections of the central nervous system caused by TREPONEMA PALLIDUM which present with a variety of clinical syndromes. The initial phase of infection usually causes a mild or asymptomatic meningeal reaction. The meningovascular form may present acutely as BRAIN INFARCTION. The infection may also remain subclinical for several years. Late syndromes include general paresis; TABES DORSALIS; meningeal syphilis; syphilitic OPTIC ATROPHY; and spinal syphilis. General paresis is characterized by progressive DEMENTIA; DYSARTHRIA; TREMOR; MYOCLONUS; SEIZURES; and Argyll-Robertson pupils. (Adams et al., Principles of Neurology, 6th ed, pp722-8)"
+BMGC_DS03104,BMG_DS004240,MONDO: An encephalitis caused by infection with Treponema.
+BMGC_DS03105,BMG_DS004255,NCI: A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). | MONDO: A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).
+BMGC_DS03106,BMG_DS004256,MONDO: Acute form of gonococcal cystitis.
+BMGC_DS03107,BMG_DS004257,MONDO: Acute form of gonococcal prostatitis.
+BMGC_DS03108,BMG_DS004258,MONDO: Acute form of gonococcal epididymo-orchitis.
+BMGC_DS03109,BMG_DS004260,MONDO: Acute form of gonococcal cervicitis.
+BMGC_DS03110,BMG_DS004261,
+BMGC_DS03111,BMG_DS004265,MONDO: Chronic form of gonococcal seminal vesiculitis.
+BMGC_DS03112,BMG_DS004266,MONDO: Chronic form of gonococcal cervicitis.
+BMGC_DS03113,BMG_DS004268,MONDO: Chronic form of gonococcal salpingitis.
+BMGC_DS03114,BMG_DS004270,MONDO: An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.
+BMGC_DS03115,BMG_DS004271,
+BMGC_DS03116,BMG_DS004272,
+BMGC_DS03117,BMG_DS004274,NCI: Arthritis caused by bacterial infection with Neisseria gonorrhoeae.
+BMGC_DS03118,BMG_DS004275,MONDO: An bursitis caused by infection with Neisseria gonorrhoeae.
+BMGC_DS03119,BMG_DS004276,MONDO: An spondylitis caused by infection with Neisseria gonorrhoeae.
+BMGC_DS03120,BMG_DS004279,
+BMGC_DS03121,BMG_DS004281,
+BMGC_DS03122,BMG_DS004285,
+BMGC_DS03123,BMG_DS004288,
+BMGC_DS03124,BMG_DS004294,MONDO: A dermatophytosis that involves the hands.
+BMGC_DS03125,BMG_DS004295,MONDO: A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.
+BMGC_DS03126,BMG_DS004298,"NCI: A fungal infection by any of the Candida species in two or more non-contiguous sterile body compartments. | MONDO: Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes."
+BMGC_DS03127,BMG_DS004300,NCI: Endocarditis caused by fungal infection with Candida species.
+BMGC_DS03128,BMG_DS004302,
+BMGC_DS03129,BMG_DS004303,
+BMGC_DS03130,BMG_DS004305,MeSH: Infection resulting from exposure to the fungus HISTOPLASMA.
+BMGC_DS03131,BMG_DS004309,
+BMGC_DS03132,BMG_DS004314,MONDO: An infectious meningitis caused by infection with Histoplasma capsulatum.
+BMGC_DS03133,BMG_DS004315,MONDO: An retinitis caused by infection with Histoplasma capsulatum.
+BMGC_DS03134,BMG_DS004316,MONDO: An pericarditis (disease) caused by infection with Histoplasma.
+BMGC_DS03135,BMG_DS004319,
+BMGC_DS03136,BMG_DS004320,
+BMGC_DS03137,BMG_DS004327,
+BMGC_DS03138,BMG_DS004341,NCI: A primary or metastatic malignant neoplasm involving the lip. | MONDO: A primary or metastatic malignant neoplasm involving the lip.
+BMGC_DS03139,BMG_DS004342,
+BMGC_DS03140,BMG_DS004343,
+BMGC_DS03141,BMG_DS004344,NCI: A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas. | MONDO: A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas.
+BMGC_DS03142,BMG_DS004345,NCI: A primary or metastatic malignant neoplasm that affects the base of the tongue.
+BMGC_DS03143,BMG_DS004346,NCI: Evidence of a malignant neoplasm of the dorsal surface of tongue.
+BMGC_DS03144,BMG_DS004347,NCI: Evidence of a malignant neoplasm of the lingual tonsil.
+BMGC_DS03145,BMG_DS004348,NCI: A malignant neoplasm that arises from the submandibular gland. The majority are carcinomas. | MONDO: A malignant neoplasm involving the submandibular gland.
+BMGC_DS03146,BMG_DS004349,NCI: A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas. | MONDO: A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas.
+BMGC_DS03147,BMG_DS004350,
+BMGC_DS03148,BMG_DS004351,NCI: A primary or metastatic malignant neoplasm that affects the gums. | MONDO: A primary or metastatic malignant neoplasm that affects the gums.
+BMGC_DS03149,BMG_DS004352,NCI: Evidence of a malignant neoplasm of the upper gum. | MONDO: A cancer involving a gingiva of upper jaw.
+BMGC_DS03150,BMG_DS004353,NCI: A primary or metastatic malignant neoplasm that affects the floor of the mouth. The majority of cases are carcinomas. | MONDO: A cancer that involves the mouth floor.
+BMGC_DS03151,BMG_DS004354,NCI: Evidence of a malignant neoplasm of the anterior floor of mouth.
+BMGC_DS03152,BMG_DS004355,NCI: A primary or metastatic malignant neoplasm involving the buccal mucosa. | MONDO: A malignant neoplasm involving the buccal mucosa.
+BMGC_DS03153,BMG_DS004356,NCI: Evidence of a malignant neoplasm of the vestibule of mouth. | MONDO: A cancer that involves the oral opening.
+BMGC_DS03154,BMG_DS004357,NCI: A primary or metastatic malignant neoplasm that affects the hard palate. | MONDO: A malignant neoplasm involving the hard palate.
+BMGC_DS03155,BMG_DS004358,NCI: A primary or metastatic malignant neoplasm that affects the soft palate. | MONDO: A primary or metastatic malignant neoplasm that affects the soft palate.
+BMGC_DS03156,BMG_DS004359,NCI: A primary or metastatic malignant neoplasm that affects the uvula. | MONDO: A malignant neoplasm involving the palatine uvula.
+BMGC_DS03157,BMG_DS004360,NCI: Evidence of a malignant neoplasm of the retromolar area. | MONDO: A malignant form of neoplasm of retromolar area.
+BMGC_DS03158,BMG_DS004362,NCI: A primary or metastatic malignant neoplasm that affects the oropharynx. | MONDO: A primary or metastatic malignant neoplasm that affects the oropharynx.
+BMGC_DS03159,BMG_DS004363,NCI: Evidence of a malignant neoplasm of the tonsillar fossa. | MONDO: A cancer involving a tonsillar fossa.
+BMGC_DS03160,BMG_DS004364,NCI: Evidence of a malignant neoplasm of the tonsillar pillar. | MONDO: A cancer that involves the tonsillar pillar.
+BMGC_DS03161,BMG_DS004365,NCI: Evidence of a malignant neoplasm of the vallecula. | MONDO: A cancer involving a epiglottic vallecula.
+BMGC_DS03162,BMG_DS004366,
+BMGC_DS03163,BMG_DS004367,NCI: Evidence of a malignant neoplasm of the lateral wall of oropharynx.
+BMGC_DS03164,BMG_DS004368,NCI: Evidence of a malignant neoplasm of the posterior wall of oropharynx.
+BMGC_DS03165,BMG_DS004369,NCI: A primary or metastatic malignant neoplasm involving the nasopharynx. | MONDO: A cancer that involves the nasopharynx.
+BMGC_DS03166,BMG_DS004370,NCI: Evidence of a malignant neoplasm of the superior wall of nasopharynx.
+BMGC_DS03167,BMG_DS004371,NCI: Evidence of a malignant neoplasm of the posterior wall of nasopharynx.
+BMGC_DS03168,BMG_DS004372,NCI: Evidence of a malignant neoplasm of the lateral wall of nasopharynx.
+BMGC_DS03169,BMG_DS004373,NCI: Evidence of a malignant neoplasm of the anterior wall of nasopharynx.
+BMGC_DS03170,BMG_DS004374,NCI: A primary or metastatic malignant neoplasm that affects the hypopharynx. | MONDO: A primary or metastatic malignant neoplasm that affects the hypopharynx.
+BMGC_DS03171,BMG_DS004375,NCI: A primary or metastatic malignant neoplasm that affects the pyriform sinus. | MONDO: A primary or metastatic malignant neoplasm that affects the pyriform sinus.
+BMGC_DS03172,BMG_DS004376,"NCI: Evidence of a malignant neoplasm of the aryepiglottic fold, hypopharyngeal aspect. | MONDO: A malignant neoplasm involving the aryepiglottic fold."
+BMGC_DS03173,BMG_DS004378,NCI: Evidence of a malignant neoplasm of Waldeyer's ring. | MONDO: A malignant neoplasm involving the tonsillar ring.
+BMGC_DS03174,BMG_DS004380,NCI: A primary or metastatic malignant neoplasm involving the upper third segment of the esophagus.
+BMGC_DS03175,BMG_DS004381,NCI: A primary or metastatic malignant neoplasm involving the middle third segment of the esophagus.
+BMGC_DS03176,BMG_DS004382,NCI: A primary or metastatic malignant neoplasm involving the lower third segment of the esophagus.
+BMGC_DS03177,BMG_DS004383,
+BMGC_DS03178,BMG_DS004384,NCI: Evidence of a malignant neoplasm of the cardia. | MONDO: A malignant neoplasm involving the cardia of stomach.
+BMGC_DS03179,BMG_DS004385,NCI: A primary or metastatic malignant neoplasm that affects the pylorus. | MONDO: A malignant neoplasm involving the pylorus.
+BMGC_DS03180,BMG_DS004386,NCI: Evidence of a malignant neoplasm of the pyloric antrum. | MONDO: A malignant neoplasm involving the pyloric antrum.
+BMGC_DS03181,BMG_DS004387,
+BMGC_DS03182,BMG_DS004388,NCI: Evidence of a malignant neoplasm of the body of the stomach.
+BMGC_DS03183,BMG_DS004389,NCI: Evidence of a malignant neoplasm of the lesser curvature of stomach.
+BMGC_DS03184,BMG_DS004390,NCI: Evidence of a malignant neoplasm of the greater curvature of stomach.
+BMGC_DS03185,BMG_DS004391,NCI: A primary or metastatic malignant neoplasm involving the small intestine. | MONDO: A primary or metastatic malignant neoplasm involving the small intestine.
+BMGC_DS03186,BMG_DS004392,"NCI: A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma. | MONDO: A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma."
+BMGC_DS03187,BMG_DS004393,NCI: A primary or metastatic malignant neoplasm that affects the jejunum. | MONDO: A malignant neoplasm involving the jejunum.
+BMGC_DS03188,BMG_DS004394,NCI: A primary or metastatic malignant neoplasm involving the ileum.
+BMGC_DS03189,BMG_DS004395,MONDO: A cancer involving a Meckel's diverticulum.
+BMGC_DS03190,BMG_DS004396,NCI: Evidence of a malignant neoplasm of the hepatic flexure. | MONDO: A malignant neoplasm involving the hepatic flexure of colon.
+BMGC_DS03191,BMG_DS004397,NCI: Evidence of a malignant neoplasm of the transverse colon. | MONDO: A malignant neoplasm involving the transverse colon.
+BMGC_DS03192,BMG_DS004398,NCI: Evidence of a malignant neoplasm of the descending colon. | MONDO: A malignant neoplasm involving the descending colon.
+BMGC_DS03193,BMG_DS004399,NCI: Evidence of a malignant neoplasm of the sigmoid colon. | MONDO: A malignant neoplasm involving the sigmoid colon.
+BMGC_DS03194,BMG_DS004400,"NCI: A primary or metastatic malignant neoplasm that affects the cecum. Representative examples include carcinoma, lymphoma, and sarcoma. | MONDO: A malignant neoplasm involving the caecum"
+BMGC_DS03195,BMG_DS004401,NCI: Evidence of a malignant neoplasm of the ascending colon. | MONDO: A malignant neoplasm involving the ascending colon.
+BMGC_DS03196,BMG_DS004402,NCI: Evidence of a malignant neoplasm of the splenic flexure. | MONDO: A malignant neoplasm involving the splenic flexure of colon.
+BMGC_DS03197,BMG_DS004403,"NCI: A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma. | MONDO: A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma."
+BMGC_DS03198,BMG_DS004404,NCI: Evidence of a malignant neoplasm of the anal canal. | MONDO: A malignant neoplasm involving the anal canal
+BMGC_DS03199,BMG_DS004405,"NCI: A primary or metastatic malignant neoplasm that affects the anal canal or perianal skin. Representative examples include carcinomas, lymphomas, and melanomas. | MONDO: A malignant neoplasm involving the anus"
+BMGC_DS03200,BMG_DS004406,"NCI: A primary or metastatic malignant neoplasm that affects the gallbladder. Representative examples include carcinoma, lymphoma, melanoma, and sarcoma. | MONDO: A malignant neoplasm involving the gall bladder"
+BMGC_DS03201,BMG_DS004407,NCI: A primary or metastatic malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include carcinoma and sarcoma. | MONDO: A cancer that involves the extrahepatic bile duct.
+BMGC_DS03202,BMG_DS004408,NCI: A primary or metastatic malignant neoplasm involving the ampulla of Vater. | MONDO: A primary or metastatic malignant neoplasm involving the ampulla of Vater.
+BMGC_DS03203,BMG_DS004409,NCI: Evidence of a malignant neoplasm of the head of pancreas.
+BMGC_DS03204,BMG_DS004410,NCI: Evidence of a malignant neoplasm of the body of the pancreas.
+BMGC_DS03205,BMG_DS004411,NCI: Evidence of a malignant neoplasm of the tail of pancreas.
+BMGC_DS03206,BMG_DS004412,NCI: Evidence of a malignant neoplasm of the pancreatic duct.
+BMGC_DS03207,BMG_DS004413,
+BMGC_DS03208,BMG_DS004414,
+BMGC_DS03209,BMG_DS004415,"NCI: A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. | MONDO: A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas."
+BMGC_DS03210,BMG_DS004416,NCI: Evidence of a malignant neoplasm of the specified parts of peritoneum.
+BMGC_DS03211,BMG_DS004417,NCI: A primary or metastatic malignant neoplasm involving the peritoneum. Representative examples include carcinoma and malignant mesothelioma. | MONDO: A malignant neoplasm involving the peritoneum
+BMGC_DS03212,BMG_DS004418,"NCI: A malignant neoplasm affecting the spleen. Representative examples include leukemias, lymphomas, and sarcomas. | MONDO: A malignant neoplasm involving the spleen"
+BMGC_DS03213,BMG_DS004420,NCI: A primary or metastatic malignant neoplasm involving the maxillary sinus.
+BMGC_DS03214,BMG_DS004421,NCI: A primary or metastatic malignant neoplasm involving the ethmoid sinus. | MONDO: A malignant neoplasm involving the ethmoid sinus.
+BMGC_DS03215,BMG_DS004422,NCI: A primary or metastatic malignant neoplasm involving the frontal sinus. | MONDO: A malignant neoplasm involving the frontal sinus.
+BMGC_DS03216,BMG_DS004423,NCI: A primary or metastatic malignant neoplasm involving the sphenoid sinus. | MONDO: A malignant neoplasm involving the sphenoidal sinus.
+BMGC_DS03217,BMG_DS004424,NCI: A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas. | MONDO: A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas.
+BMGC_DS03218,BMG_DS004425,NCI: A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. | MONDO: A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.
+BMGC_DS03219,BMG_DS004426,NCI: A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. | MONDO: A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.
+BMGC_DS03220,BMG_DS004427,NCI: Evidence of a malignant neoplasm of the laryngeal cartilage. | MONDO: A malignant neoplasm involving the laryngeal cartilage.
+BMGC_DS03221,BMG_DS004428,NCI: A primary or metastatic malignant neoplasm involving the trachea. | MONDO: A malignant neoplasm involving the trachea
+BMGC_DS03222,BMG_DS004429,MONDO: A malignant neoplasm involving the main bronchus.
+BMGC_DS03223,BMG_DS004430,"NCI: Evidence of a malignant neoplasm of the middle lobe, bronchus or lung."
+BMGC_DS03224,BMG_DS004431,
+BMGC_DS03225,BMG_DS004432,
+BMGC_DS03226,BMG_DS004433,MONDO: A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.
+BMGC_DS03227,BMG_DS004434,
+BMGC_DS03228,BMG_DS004435,
+BMGC_DS03229,BMG_DS004436,NCI: A primary or metastatic malignant neoplasm involving the heart. | MONDO: A malignant neoplasm involving the heart
+BMGC_DS03230,BMG_DS004437,NCI: Evidence of a malignant neoplasm of the posterior mediastinum. | MONDO: A malignant neoplasm involving the posterior mediastinum.
+BMGC_DS03231,BMG_DS004438,MONDO: A malignant neoplasm involving the mediastinum
+BMGC_DS03232,BMG_DS004439,NCI: A primary or metastatic malignant neoplasm that affects the mandible. | MONDO: A malignant neoplasm involving the mandible
+BMGC_DS03233,BMG_DS004440,
+BMGC_DS03234,BMG_DS004441,
+BMGC_DS03235,BMG_DS004442,
+BMGC_DS03236,BMG_DS004449,"NCI: A Kaposi sarcoma arising from the skin. It presents with patches, plaques, or nodules."
+BMGC_DS03237,BMG_DS004450,NCI: Evidence of Kaposi's sarcoma of the soft tissue.
+BMGC_DS03238,BMG_DS004451,NCI: Kaposi sarcoma arising from the palate.
+BMGC_DS03239,BMG_DS004452,
+BMGC_DS03240,BMG_DS004453,NCI: A Kaposi sarcoma arising from the lung.
+BMGC_DS03241,BMG_DS004454,
+BMGC_DS03242,BMG_DS004455,MONDO: Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.
+BMGC_DS03243,BMG_DS004457,NCI: A primary or metastatic neoplasm that affects the placenta. | MONDO: A malignant neoplasm involving the placenta.
+BMGC_DS03244,BMG_DS004458,"NCI: A malignant neoplasm that affects the uterine corpus. Representative examples include endometrial carcinoma, carcinosarcoma, leiomyosarcoma, and adenosarcoma."
+BMGC_DS03245,BMG_DS004459,MONDO: A cancer that involves the UBERON:0016632.
+BMGC_DS03246,BMG_DS004460,
+BMGC_DS03247,BMG_DS004461,"NCI: A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma. | MONDO: A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma."
+BMGC_DS03248,BMG_DS004462,NCI: Evidence of a malignant neoplasm of the parametrium. | MONDO: A malignant neoplasm involving the parametrium.
+BMGC_DS03249,BMG_DS004463,NCI: Evidence of a malignant neoplasm of the uterine adnexa.
+BMGC_DS03250,BMG_DS004464,
+BMGC_DS03251,BMG_DS004465,NCI: A malignant neoplasm that affects the clitoris. | MONDO: A malignant neoplasm that affects the clitoris.
+BMGC_DS03252,BMG_DS004466,"MONDO: A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma."
+BMGC_DS03253,BMG_DS004467,
+BMGC_DS03254,BMG_DS004468,NCI: Evidence of a malignant neoplasm of the prepuce. | MONDO: A malignant neoplasm involving the prepuce.
+BMGC_DS03255,BMG_DS004469,NCI: Evidence of a malignant neoplasm of the glans penis. | MONDO: A malignant neoplasm involving the glans penis.
+BMGC_DS03256,BMG_DS004470,NCI: Evidence of a malignant neoplasm of the body of the penis.
+BMGC_DS03257,BMG_DS004471,NCI: A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma. | MONDO: A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.
+BMGC_DS03258,BMG_DS004472,NCI: A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site. | MONDO: A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site.
+BMGC_DS03259,BMG_DS004473,NCI: A primary or metastatic malignant neoplasm that affects the spermatic cord. | MONDO: A malignant neoplasm involving the spermatic cord.
+BMGC_DS03260,BMG_DS004474,NCI: A primary or metastatic malignant neoplasm affecting the scrotum. | MONDO: A primary or metastatic malignant neoplasm affecting the scrotum.
+BMGC_DS03261,BMG_DS004475,"MONDO: A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma."
+BMGC_DS03262,BMG_DS004476,NCI: Evidence of a malignant neoplasm of the anterior wall of bladder.
+BMGC_DS03263,BMG_DS004477,NCI: Evidence of a malignant neoplasm of the posterior wall of bladder.
+BMGC_DS03264,BMG_DS004478,NCI: Evidence of a malignant neoplasm of the bladder neck. | MONDO: A malignant neoplasm involving the neck of urinary bladder.
+BMGC_DS03265,BMG_DS004479,NCI: Evidence of a malignant neoplasm of the ureteric orifice. | MONDO: A malignant neoplasm involving the ureteral orifice.
+BMGC_DS03266,BMG_DS004480,NCI: Evidence of a malignant neoplasm of the urachus. | MONDO: A malignant neoplasm involving the urachus.
+BMGC_DS03267,BMG_DS004481,NCI: A primary or metastatic malignant neoplasm that affects the renal pelvis. | MONDO: A primary or metastatic malignant neoplasm that affects the renal pelvis.
+BMGC_DS03268,BMG_DS004482,NCI: A primary or metastatic malignant tumor involving the ureter. The majority are carcinomas. | MONDO: A malignant neoplasm involving the ureter
+BMGC_DS03269,BMG_DS004483,NCI: A primary or metastatic malignant neoplasm involving the urethra. | MONDO: A malignant neoplasm involving the urethra
+BMGC_DS03270,BMG_DS004484,MONDO: A malignant neoplasm involving the paraurethral gland.
+BMGC_DS03271,BMG_DS004485,NCI: A primary or metastatic malignant neoplasm involving the orbit. | MONDO: A primary or metastatic malignant neoplasm involving the orbit.
+BMGC_DS03272,BMG_DS004486,NCI: A primary or metastatic malignant neoplasm affecting the lacrimal gland. | MONDO: A malignant neoplasm involving the lacrimal gland.
+BMGC_DS03273,BMG_DS004487,MONDO: A malignant neoplasm involving the conjunctiva.
+BMGC_DS03274,BMG_DS004488,NCI: A primary or metastatic malignant neoplasm that affects the cornea. | MONDO: A malignant neoplasm involving the cornea.
+BMGC_DS03275,BMG_DS004489,NCI: A primary or metastatic malignant neoplasm that affects the choroid. | MONDO: A malignant neoplasm involving the optic choroid.
+BMGC_DS03276,BMG_DS004490,NCI: A primary or metastatic malignant neoplasm affecting the lacrimal duct. | MONDO: A primary or metastatic malignant neoplasm affecting the lacrimal duct.
+BMGC_DS03277,BMG_DS004491,
+BMGC_DS03278,BMG_DS004492,NCI: A primary or metastatic malignant neoplasm affecting the brain. | MONDO: A primary or metastatic malignant neoplasm affecting the brain.
+BMGC_DS03279,BMG_DS004493,NCI: Evidence of a malignant neoplasm of the frontal lobe.
+BMGC_DS03280,BMG_DS004494,NCI: Evidence of a malignant neoplasm of the temporal lobe. | MONDO: A cancer that involves the temporal lobe.
+BMGC_DS03281,BMG_DS004495,NCI: Evidence of a malignant neoplasm of the parietal lobe. | MONDO: A malignant neoplasm involving the parietal lobe
+BMGC_DS03282,BMG_DS004496,NCI: Evidence of a malignant neoplasm of the occipital lobe.
+BMGC_DS03283,BMG_DS004497,"NCI: Primary and secondary (metastatic) malignant tumors that occur in the cerebellum. Histologic types include medulloblastomas, high grade (WHO Stage III or IV) cerebellar astrocytomas, lymphomas, gangliogliomas, gliosarcomas, and several other subtypes. The most frequent malignant cerebellar neoplasm of childhood is medulloblastoma. In adults, metastases from other sites are relatively common. Clinical features include ataxia, headache, nausea, dizziness, nystagmus, diplopia, papilledema, etc. | MONDO: A cancer that involves the cerebellum."
+BMGC_DS03284,BMG_DS004498,NCI: A primary or metastatic malignant neoplasm that affects the brain stem. | MONDO: A primary or metastatic malignant neoplasm that affects the brain stem.
+BMGC_DS03285,BMG_DS004499,
+BMGC_DS03286,BMG_DS004500,
+BMGC_DS03287,BMG_DS004501,NCI: A primary or metastatic malignant neoplasm that affects a cranial nerve. | MONDO: Abnormal malignant growth of the cells that comprise the cranial nerve.
+BMGC_DS03288,BMG_DS004502,"NCI: A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma. | MONDO: A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma."
+BMGC_DS03289,BMG_DS004503,NCI: Evidence of a malignant neoplasm of the spinal meninges. | MONDO: A malignant neoplasm involving the meninx of spinal cord.
+BMGC_DS03290,BMG_DS004504,NCI: A primary or metastatic malignant neoplasm affecting the parathyroid glands. | MONDO: A cancer that involves the parathyroid gland.
+BMGC_DS03291,BMG_DS004505,NCI: A malignant neoplasm that affects the pineal region. | MONDO: Abnormal malignant growth of the cells that comprise the pineal parenchyma.
+BMGC_DS03292,BMG_DS004506,NCI: A carotid body paraganglioma that metastasizes to other anatomic sites. | MONDO: A carotid body paraganglioma that metastasizes to other anatomic sites.
+BMGC_DS03293,BMG_DS004507,"MONDO: A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma."
+BMGC_DS03294,BMG_DS004508,MONDO: A primary or metastatic malignant neoplasm affecting the tissues of the thorax.
+BMGC_DS03295,BMG_DS004510,
+BMGC_DS03296,BMG_DS004511,
+BMGC_DS03297,BMG_DS004512,
+BMGC_DS03298,BMG_DS004513,
+BMGC_DS03299,BMG_DS004514,MONDO: A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity.
+BMGC_DS03300,BMG_DS004530,MONDO: A lipoma that involves the face.
+BMGC_DS03301,BMG_DS004531,NCI: A lipoma that arises from the spermatic cord. | MONDO: A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.
+BMGC_DS03302,BMG_DS004532,
+BMGC_DS03303,BMG_DS004533,
+BMGC_DS03304,BMG_DS004534,
+BMGC_DS03305,BMG_DS004535,
+BMGC_DS03306,BMG_DS004558,NCI: A hemangioma arising from the brain and meninges. | MONDO: A hemangioma arising from the brain and meninges.
+BMGC_DS03307,BMG_DS004560,NCI: A hemangioma arising from organs within the abdominal cavity. | MONDO: A hemangioma arising from organs within the abdominal cavity.
+BMGC_DS03308,BMG_DS004563,"MONDO: Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)"
+BMGC_DS03309,BMG_DS004564,MONDO: A in situ carcinoma that involves the stomach.
+BMGC_DS03310,BMG_DS004565,MONDO: A in situ carcinoma that involves the colon.
+BMGC_DS03311,BMG_DS004566,MONDO: A in situ carcinoma that involves the rectum.
+BMGC_DS03312,BMG_DS004567,NCI: Anal canal or perianal skin intraepithelial neoplasia with severe dysplasia.
+BMGC_DS03313,BMG_DS004568,NCI: Evidence of carcinoma in situ of other and unspecified parts of intestine.
+BMGC_DS03314,BMG_DS004569,MONDO: A in situ carcinoma that involves the larynx.
+BMGC_DS03315,BMG_DS004570,NCI: A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion. | MONDO: A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion.
+BMGC_DS03316,BMG_DS004571,NCI: Evidence of carcinoma in situ of the bronchus and lung.
+BMGC_DS03317,BMG_DS004572,"NCI: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No clinical or radiographic evidence of distant metastasis. (AJCC 6th and 7th eds.) | MONDO: A in situ carcinoma that involves the zone of skin."
+BMGC_DS03318,BMG_DS004573,
+BMGC_DS03319,BMG_DS004574,
+BMGC_DS03320,BMG_DS004575,NCI: Evidence of carcinoma in situ of the skin of scalp and neck.
+BMGC_DS03321,BMG_DS004576,
+BMGC_DS03322,BMG_DS004577,
+BMGC_DS03323,BMG_DS004578,
+BMGC_DS03324,BMG_DS004579,"MONDO: A in situ carcinoma that involves the breast. | MeSH: A condition in which abnormal cells have not spread outside the duct, lobule, or nipple to other tissues of the breast. There are 3 types of breast carcinoma in situ: DUCTAL CARCINOMA IN SITU; LOBULAR CARCINOMA IN SITU; and PAGET DISEASE OF THE NIPPLE."
+BMGC_DS03325,BMG_DS004580,
+BMGC_DS03326,BMG_DS004581,
+BMGC_DS03327,BMG_DS004582,"NCI: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. cN0: No palpable or visibly enlarged inguinal lymph nodes. pN0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 7th ed.) | MONDO: A in situ carcinoma that involves the penis."
+BMGC_DS03328,BMG_DS004583,"MONDO: Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: \"
+BMGC_DS03329,BMG_DS004584,NCI: Evidence of carcinoma in situ of other and unspecified urinary organs.
+BMGC_DS03330,BMG_DS004585,NCI: Evidence of carcinoma in situ of the eye. | MONDO: A carcinoma in situ involving a eye.
+BMGC_DS03331,BMG_DS004586,
+BMGC_DS03332,BMG_DS004591,
+BMGC_DS03333,BMG_DS004593,
+BMGC_DS03334,BMG_DS004595,"NCI: An inflammatory disorder of unknown etiology that affects the thyroid gland. It is characterized by extensive fibrosis of the thyroid parenchyma. The fibrosis extends beyond the thyroid gland capsule to the adjacent structures. | MONDO: Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occurring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease."
+BMGC_DS03335,BMG_DS004599,
+BMGC_DS03336,BMG_DS004600,
+BMGC_DS03337,BMG_DS004601,
+BMGC_DS03338,BMG_DS004605,"MONDO: A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma."
+BMGC_DS03339,BMG_DS004608,
+BMGC_DS03340,BMG_DS004611,NCI: Abnormally high level of estrogen.
+BMGC_DS03341,BMG_DS004619,
+BMGC_DS03342,BMG_DS004632,"MONDO: A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. | MeSH: Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA."
+BMGC_DS03343,BMG_DS004633,"MONDO: An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. | MeSH: Pathological conditions resulting from abnormal anabolism or catabolism of lipids in the body."
+BMGC_DS03344,BMG_DS004634,NCI: A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines. | MONDO: A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.
+BMGC_DS03345,BMG_DS004640,
+BMGC_DS03346,BMG_DS004646,NCI: Anemia associated with inadequate protein intake.
+BMGC_DS03347,BMG_DS004650,MONDO: An instance of thrombocytopenia that is acquired during the lifetime of the individual.
+BMGC_DS03348,BMG_DS004651,NCI: Inflammation of the lymph nodes that is chronic in nature.
+BMGC_DS03349,BMG_DS004654,
+BMGC_DS03350,BMG_DS004655,
+BMGC_DS03351,BMG_DS004657,
+BMGC_DS03352,BMG_DS004658,
+BMGC_DS03353,BMG_DS004659,"NCI: Evidence of major depressive disorder, recurrent."
+BMGC_DS03354,BMG_DS004660,"MONDO: A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite (\"
+BMGC_DS03355,BMG_DS004661,
+BMGC_DS03356,BMG_DS004662,
+BMGC_DS03357,BMG_DS004663,
+BMGC_DS03358,BMG_DS004664,"NCI: Evidence of sedative, hypnotic or anxiolytic abuse, in remission."
+BMGC_DS03359,BMG_DS004665,
+BMGC_DS03360,BMG_DS004666,
+BMGC_DS03361,BMG_DS004669,
+BMGC_DS03362,BMG_DS004670,"NCI: An eating disorder most commonly observed in infants characterized by the repeated regurgitation and rechewing of food for a period of at least one month; this behavior is not associated with a gastrointestinal or other medical reason. | MONDO: Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment."
+BMGC_DS03363,BMG_DS004671,
+BMGC_DS03364,BMG_DS004672,MONDO: An infectious meningitis caused by infection with Streptococcus.
+BMGC_DS03365,BMG_DS004673,
+BMGC_DS03366,BMG_DS004675,
+BMGC_DS03367,BMG_DS004677,NCI: Meningitis in which eosinophils predominate in the cerebrospinal fluid. | MONDO: Meningitis in which eosinophils predominate in the cerebrospinal fluid.
+BMGC_DS03368,BMG_DS004678,MONDO: Chronic form of meningitis (disease).
+BMGC_DS03369,BMG_DS004683,
+BMGC_DS03370,BMG_DS004684,MONDO: A neurodegenerative disease that involves the telencephalon.
+BMGC_DS03371,BMG_DS004685,
+BMGC_DS03372,BMG_DS004686,
+BMGC_DS03373,BMG_DS004688,"HPO: Any anomaly of the anterior horn cell. [https://orcid.org/0000-0002-0736-9199] | MONDO: Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis. | MeSH: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS03374,BMG_DS004689,"NCI: A progressive neurodegenerative disorder affecting upper motor neurons, characterized by progressive muscle weakness. | MONDO: Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. | MeSH: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS03375,BMG_DS004690,
+BMGC_DS03376,BMG_DS004693,
+BMGC_DS03377,BMG_DS004694,
+BMGC_DS03378,BMG_DS004696,"NCI: Evidence of flaccid hemiplegia affecting the unspecified side. | MeSH: Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body."
+BMGC_DS03379,BMG_DS004697,"NCI: A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. | MONDO: A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. | MeSH: Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body."
+BMGC_DS03380,BMG_DS004698,"MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS03381,BMG_DS004699,"MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS03382,BMG_DS004700,"MONDO: A spastic cerebral palsy that affects only one limb. | MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS03383,BMG_DS004702,NCI: Evidence of diplegia of the upper limbs.
+BMGC_DS03384,BMG_DS004706,
+BMGC_DS03385,BMG_DS004707,"MONDO: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. | MeSH: A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS03386,BMG_DS004711,
+BMGC_DS03387,BMG_DS004712,"ORPHANET: A rare cranial neuralgia characterized by paroxysmal, usually unilateral stabbing pain within the sensory distributions of the auricular and pharyngeal branches of the glossopharyngeal and sometimes the vagus nerve (i. e. the posterior part of the tongue, the tonsillar fossa, oropharynx, larynx, angle of the mandible, and/or ear). The attacks last seconds to minutes with intervals between the paroxysms ranging from a few minutes to a few hours, and appear in clusters lasting weeks to months, again with irregular intervals in between. Pain attacks are usually triggered by a specific stimulus but may also occur spontaneously. The condition can sometimes be associated with bradycardia, syncope, seizures, and even asystole, and is then termed vagoglossopharyngeal neuralgia. | MONDO: Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases. | MeSH: Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with SYNCOPE. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)"
+BMGC_DS03388,BMG_DS004713,
+BMGC_DS03389,BMG_DS004714,MONDO: A nerve plexus disease that involves the lumbosacral nerve plexus.
+BMGC_DS03390,BMG_DS004718,MONDO: A neuritis that involves the forelimb.
+BMGC_DS03391,BMG_DS004719,
+BMGC_DS03392,BMG_DS004720,"MONDO: Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5) | MeSH: Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)"
+BMGC_DS03393,BMG_DS004721,MONDO: A peripheral nerve lesion that involves the radial nerve.
+BMGC_DS03394,BMG_DS004722,
+BMGC_DS03395,BMG_DS004723,MONDO: A mononeuritis simplex that involves the hindlimb.
+BMGC_DS03396,BMG_DS004724,"MONDO: A peripheral nerve lesion that involves the sciatic nerve. | MeSH: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)"
+BMGC_DS03397,BMG_DS004725,
+BMGC_DS03398,BMG_DS004726,MONDO: A peripheral nerve lesion that involves the plantar nerve.
+BMGC_DS03399,BMG_DS004728,
+BMGC_DS03400,BMG_DS004729,
+BMGC_DS03401,BMG_DS004730,
+BMGC_DS03402,BMG_DS004731,
+BMGC_DS03403,BMG_DS004735,MONDO: Acute form of endophthalmitis.
+BMGC_DS03404,BMG_DS004736,MONDO: Chronic form of endophthalmitis.
+BMGC_DS03405,BMG_DS004737,"SNOMEDCT_US: A granulomatous, inflammatory disorder of the eye; reaction to vegetable or insect hairs"
+BMGC_DS03406,BMG_DS004738,MONDO: A neurodegenerative disease that involves the eye.
+BMGC_DS03407,BMG_DS004739,MONDO: Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness. | MeSH: Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS.
+BMGC_DS03408,BMG_DS004740,
+BMGC_DS03409,BMG_DS004741,
+BMGC_DS03410,BMG_DS004742,
+BMGC_DS03411,BMG_DS004743,
+BMGC_DS03412,BMG_DS004745,
+BMGC_DS03413,BMG_DS004748,
+BMGC_DS03414,BMG_DS004756,"NCI: Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness. | MONDO: Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness."
+BMGC_DS03415,BMG_DS004757,"MONDO: Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. | MeSH: A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels."
+BMGC_DS03416,BMG_DS004758,"MONDO: Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage."
+BMGC_DS03417,BMG_DS004759,"HPO: A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells. [https://orcid.org/0000-0002-6601-2165, PMID:23371018, PMID:24425852]"
+BMGC_DS03418,BMG_DS004760,HPO: Dilatation of small blood vessels of the retina. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03419,BMG_DS004763,NCI: A partial occlusion of the retinal artery. | MONDO: A partial occlusion of the retinal artery.
+BMGC_DS03420,BMG_DS004764,"NCI: A partial, temporary occlusion of the retinal artery. | MONDO: A partial, temporary occlusion of the retinal artery."
+BMGC_DS03421,BMG_DS004765,NCI: Blockage of the central retinal vein. | MONDO: Blockage of the central retinal vein.
+BMGC_DS03422,BMG_DS004766,
+BMGC_DS03423,BMG_DS004768,HPO: A form of macular degeneration characterized by the presence of multiple cysts in the macula. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03424,BMG_DS004769,
+BMGC_DS03425,BMG_DS004770,
+BMGC_DS03426,BMG_DS004771,
+BMGC_DS03427,BMG_DS004772,
+BMGC_DS03428,BMG_DS004773,
+BMGC_DS03429,BMG_DS004774,
+BMGC_DS03430,BMG_DS004775,NCI: An inherited form of retinal dystrophy.
+BMGC_DS03431,BMG_DS004776,
+BMGC_DS03432,BMG_DS004777,
+BMGC_DS03433,BMG_DS004779,
+BMGC_DS03434,BMG_DS004780,"MONDO: A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation."
+BMGC_DS03435,BMG_DS004781,
+BMGC_DS03436,BMG_DS004784,"MONDO: Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina. | MeSH: Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis)."
+BMGC_DS03437,BMG_DS004787,
+BMGC_DS03438,BMG_DS004793,
+BMGC_DS03439,BMG_DS004794,
+BMGC_DS03440,BMG_DS004795,
+BMGC_DS03441,BMG_DS004796,
+BMGC_DS03442,BMG_DS004797,
+BMGC_DS03443,BMG_DS004798,
+BMGC_DS03444,BMG_DS004799,
+BMGC_DS03445,BMG_DS004805,
+BMGC_DS03446,BMG_DS004807,
+BMGC_DS03447,BMG_DS004809,"ORPHANET: A rare ophthalmic disorder characterized by inflammation primarily of the anterior part of the uvea (iris and ciliary body), due to an infectious etiology. Clinical symptoms are pain, redness, photophobia, and variable visual loss. Signs on examination include presence of inflammatory cells in the anterior chamber and anterior vitreous, keratic precipitates, hypopyon, iris nodules, posterior synechiae, and miosis, among others. | MONDO: An infectious disease involving a pathogenic inflammatory response in the anterior uvea."
+BMGC_DS03448,BMG_DS004812,"HPO: Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. [PMID:27895936, PMID:29881517]"
+BMGC_DS03449,BMG_DS004824,
+BMGC_DS03450,BMG_DS004825,
+BMGC_DS03451,BMG_DS004826,
+BMGC_DS03452,BMG_DS004827,MONDO: Acute form of angle-closure glaucoma.
+BMGC_DS03453,BMG_DS004828,MONDO: Chronic form of angle-closure glaucoma.
+BMGC_DS03454,BMG_DS004829,
+BMGC_DS03455,BMG_DS004834,
+BMGC_DS03456,BMG_DS004839,
+BMGC_DS03457,BMG_DS004843,MONDO: A senile cataract that involves the lens cortex.
+BMGC_DS03458,BMG_DS004847,
+BMGC_DS03459,BMG_DS004851,
+BMGC_DS03460,BMG_DS004852,"MONDO: Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males. | MeSH: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue."
+BMGC_DS03461,BMG_DS004853,"HPO: Difficulty with discriminating red and green hues. [https://orcid.org/0000-0001-8727-6592] | MONDO: Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population. | MeSH: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue."
+BMGC_DS03462,BMG_DS004854,"HPO: Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. [https://orcid.org/0000-0002-0736-9199] | MONDO: Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision. | MeSH: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue."
+BMGC_DS03463,BMG_DS004855,"NCI: Non-heritable difficulty in distinguishing colors. | MONDO: Non-heritable difficulty in distinguishing colors. | MeSH: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue."
+BMGC_DS03464,BMG_DS004856,
+BMGC_DS03465,BMG_DS004857,
+BMGC_DS03466,BMG_DS004858,
+BMGC_DS03467,BMG_DS004859,
+BMGC_DS03468,BMG_DS004860,
+BMGC_DS03469,BMG_DS004861,
+BMGC_DS03470,BMG_DS004862,
+BMGC_DS03471,BMG_DS004863,"ORPHANET: A rare disorder of the anterior segment of the eye characterized by a unilateral or bilateral rapidly progressive, intractable, painful, ulcerative keratitis which initially affects the peripheral cornea and may spread circumferentially and then centrally. The destructive process involves stromal corneal tissue only, leaving the epithelium and endothelium largely unaffected. There is no involvement of the adjacent sclera. The condition can be complicated by glaucoma, cataract, and perforation."
+BMGC_DS03472,BMG_DS004864,
+BMGC_DS03473,BMG_DS004865,
+BMGC_DS03474,BMG_DS004866,
+BMGC_DS03475,BMG_DS004867,NCI: Injury to the cornea secondary to ultraviolet light. | MONDO: Injury to the cornea secondary to ultraviolet light.
+BMGC_DS03476,BMG_DS004868,
+BMGC_DS03477,BMG_DS004870,
+BMGC_DS03478,BMG_DS004871,
+BMGC_DS03479,BMG_DS004872,
+BMGC_DS03480,BMG_DS004873,
+BMGC_DS03481,BMG_DS004874,
+BMGC_DS03482,BMG_DS004875,NCI: An abscess of the cornea. | MONDO: An abscess of the cornea.
+BMGC_DS03483,BMG_DS004879,
+BMGC_DS03484,BMG_DS004881,
+BMGC_DS03485,BMG_DS004882,
+BMGC_DS03486,BMG_DS004883,MONDO: Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.
+BMGC_DS03487,BMG_DS004884,
+BMGC_DS03488,BMG_DS004885,
+BMGC_DS03489,BMG_DS004886,
+BMGC_DS03490,BMG_DS004887,
+BMGC_DS03491,BMG_DS004888,NCI: Keratopathy that is characterized by the presence of epithelial bullae. | MONDO: Keratopathy that is characterized by the presence of epithelial bullae.
+BMGC_DS03492,BMG_DS004889,
+BMGC_DS03493,BMG_DS004890,
+BMGC_DS03494,BMG_DS004891,"HPO: The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS03495,BMG_DS004892,"NCI: The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. | MONDO: The deposition of calcium on the cornea, resulting in pain and decreased visual acuity."
+BMGC_DS03496,BMG_DS004894,
+BMGC_DS03497,BMG_DS004895,
+BMGC_DS03498,BMG_DS004897,"HPO: The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. [https://orcid.org/0000-0002-0736-9199] | MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN."
+BMGC_DS03499,BMG_DS004898,
+BMGC_DS03500,BMG_DS004899,
+BMGC_DS03501,BMG_DS004901,
+BMGC_DS03502,BMG_DS004902,
+BMGC_DS03503,BMG_DS004903,NCI: Conjunctivitis that is characterized by formation of a pseudomembrane. | MONDO: Conjunctivitis that is characterized by formation of a pseudomembrane.
+BMGC_DS03504,BMG_DS004904,NCI: Conjunctivitis that is persistent and long-standing. | MONDO: Conjunctivitis that is persistent and long-standing.
+BMGC_DS03505,BMG_DS004905,
+BMGC_DS03506,BMG_DS004906,
+BMGC_DS03507,BMG_DS004907,
+BMGC_DS03508,BMG_DS004908,"MONDO: A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area."
+BMGC_DS03509,BMG_DS004909,
+BMGC_DS03510,BMG_DS004910,
+BMGC_DS03511,BMG_DS004913,
+BMGC_DS03512,BMG_DS004914,
+BMGC_DS03513,BMG_DS004915,
+BMGC_DS03514,BMG_DS004917,
+BMGC_DS03515,BMG_DS004918,
+BMGC_DS03516,BMG_DS004919,
+BMGC_DS03517,BMG_DS004920,"MONDO: Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron."
+BMGC_DS03518,BMG_DS004924,
+BMGC_DS03519,BMG_DS004927,
+BMGC_DS03520,BMG_DS004928,
+BMGC_DS03521,BMG_DS004930,
+BMGC_DS03522,BMG_DS004931,
+BMGC_DS03523,BMG_DS004932,MONDO: A allergic contact dermatitis that involves the eyelid.
+BMGC_DS03524,BMG_DS004933,
+BMGC_DS03525,BMG_DS004934,
+BMGC_DS03526,BMG_DS004935,
+BMGC_DS03527,BMG_DS004936,
+BMGC_DS03528,BMG_DS004938,"HPO: An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. [https://orcid.org/0000-0003-0986-4123]"
+BMGC_DS03529,BMG_DS004939,"HPO: A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. [https://orcid.org/0000-0003-0986-4123]"
+BMGC_DS03530,BMG_DS004940,
+BMGC_DS03531,BMG_DS004941,HPO: Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. [https://orcid.org/0000-0003-0986-4123]
+BMGC_DS03532,BMG_DS004942,
+BMGC_DS03533,BMG_DS004943,MONDO: An ectropion with a mechanical etiology.
+BMGC_DS03534,BMG_DS004944,
+BMGC_DS03535,BMG_DS004945,"HPO: An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. [https://orcid.org/0000-0003-0986-4123]"
+BMGC_DS03536,BMG_DS004946,HPO: A type of lagophthalmos that occurs in association with facial nerve palsy. [PMID:24618488] | MeSH: Inability to close eyelids completely.
+BMGC_DS03537,BMG_DS004947,
+BMGC_DS03538,BMG_DS004948,HPO: A type of lagophthalmos that occurs following trauma or surgery. [] | MeSH: Inability to close eyelids completely.
+BMGC_DS03539,BMG_DS004952,MONDO: Over-production of pigment in the eyelid.
+BMGC_DS03540,BMG_DS004953,MONDO: Under-production of pigment in the eyelid.
+BMGC_DS03541,BMG_DS004954,MONDO: A hypertrichosis (disease) that involves the eyelid.
+BMGC_DS03542,BMG_DS004955,MONDO: A hypotrichosis that involves the eyelid.
+BMGC_DS03543,BMG_DS004958,"NCI: Inflammation and enlargement of the lacrimal gland. | MONDO: Inflammation and enlargement of the lacrimal gland. | MeSH: Inflammation of the lacrimal sac. (Dorland, 27th ed)"
+BMGC_DS03544,BMG_DS004959,MONDO: Chronic form of dacryoadenitis.
+BMGC_DS03545,BMG_DS004961,
+BMGC_DS03546,BMG_DS004962,
+BMGC_DS03547,BMG_DS004963,
+BMGC_DS03548,BMG_DS004964,
+BMGC_DS03549,BMG_DS004965,MONDO: Acute form of dacryocystitis.
+BMGC_DS03550,BMG_DS004966,
+BMGC_DS03551,BMG_DS004967,
+BMGC_DS03552,BMG_DS004968,MONDO: Chronic form of actinomycosis.
+BMGC_DS03553,BMG_DS004969,NCI: A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. | MONDO: A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.
+BMGC_DS03554,BMG_DS004970,
+BMGC_DS03555,BMG_DS004971,HPO: Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. [PMID:22848141]
+BMGC_DS03556,BMG_DS004972,
+BMGC_DS03557,BMG_DS004973,
+BMGC_DS03558,BMG_DS004975,
+BMGC_DS03559,BMG_DS004978,
+BMGC_DS03560,BMG_DS004979,
+BMGC_DS03561,BMG_DS004980,
+BMGC_DS03562,BMG_DS004981,
+BMGC_DS03563,BMG_DS004982,
+BMGC_DS03564,BMG_DS004983,
+BMGC_DS03565,BMG_DS004984,NCI: A granuloma located on the orbit of the eye. | MONDO: A granuloma located on the orbit of the eye.
+BMGC_DS03566,BMG_DS004986,"MONDO: Progressive inflammation and damage to tissues around the eyes, especially extraocular muscle, connective, and fatty tissue occurring in patients with hyperthyroidism or a history of hyperthyroidism due to Graves’ disease."
+BMGC_DS03567,BMG_DS004987,
+BMGC_DS03568,BMG_DS004989,
+BMGC_DS03569,BMG_DS004990,
+BMGC_DS03570,BMG_DS004991,
+BMGC_DS03571,BMG_DS004992,
+BMGC_DS03572,BMG_DS004997,"HPO: Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS03573,BMG_DS004998,MONDO: A myopathy that involves the extra-ocular muscle.
+BMGC_DS03574,BMG_DS004999,NCI: A disorder of the neural pathway from the optic nerve to the visual cortex. | MONDO: A disorder of the neural pathway from the optic nerve to the visual cortex.
+BMGC_DS03575,BMG_DS005000,"MeSH: Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)"
+BMGC_DS03576,BMG_DS005002,
+BMGC_DS03577,BMG_DS005005,
+BMGC_DS03578,BMG_DS005007,
+BMGC_DS03579,BMG_DS005008,"HPO: A cleft of the optic nerve that extends inferiorly. [https://orcid.org/0000-0002-0736-9199, PMID:16219745]"
+BMGC_DS03580,BMG_DS005009,HPO: Apparent optic disc swelling in the absence of increased intracranial pressure. [https://orcid.org/0000-0002-0736-9199] | MONDO: OBSOLETE. Apparent optic disk swelling in the absence of increased intracranial pressure.
+BMGC_DS03581,BMG_DS005010,MONDO: Acute form of retrobulbar neuritis.
+BMGC_DS03582,BMG_DS005011,MONDO: A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.
+BMGC_DS03583,BMG_DS005012,"MeSH: Damage to the eye or its function (e.g., VISUAL IMPAIRMENT) due to OPTIC NERVE damage secondary to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION."
+BMGC_DS03584,BMG_DS005013,"MeSH: Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)"
+BMGC_DS03585,BMG_DS005014,MONDO: A disease that involves the optic chiasma.
+BMGC_DS03586,BMG_DS005021,"MONDO: Visual impairment due to visual cortex dysfunction. | MeSH: Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)"
+BMGC_DS03587,BMG_DS005035,HPO: A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. [https://orcid.org/0000-0003-0986-4123]
+BMGC_DS03588,BMG_DS005036,HPO: Paralysis of both the extrinsic and intrinsic ocular muscles. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03589,BMG_DS005037,"HPO: An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. [https://orcid.org/0000-0003-0986-4123, PMID:28841851] | MONDO: Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle. | MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS03590,BMG_DS005039,
+BMGC_DS03591,BMG_DS005040,
+BMGC_DS03592,BMG_DS005041,
+BMGC_DS03593,BMG_DS005042,"MONDO: A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur."
+BMGC_DS03594,BMG_DS005043,
+BMGC_DS03595,BMG_DS005044,
+BMGC_DS03596,BMG_DS005045,
+BMGC_DS03597,BMG_DS005047,"HPO: A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [https://orcid.org/0000-0002-0736-9199, PMID:22454726]"
+BMGC_DS03598,BMG_DS005048,"HPO: A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [https://orcid.org/0000-0002-0736-9199, PMID:25376120]"
+BMGC_DS03599,BMG_DS005049,
+BMGC_DS03600,BMG_DS005050,
+BMGC_DS03601,BMG_DS005051,
+BMGC_DS03602,BMG_DS005053,
+BMGC_DS03603,BMG_DS005057,
+BMGC_DS03604,BMG_DS005058,
+BMGC_DS03605,BMG_DS005059,
+BMGC_DS03606,BMG_DS005060,
+BMGC_DS03607,BMG_DS005061,"HPO: Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS03608,BMG_DS005062,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS03609,BMG_DS005064,NCI: A non-neoplastic or neoplastic disorder that affects the pinna and/or the ear canal. Representative examples include infection and carcinoma. | MONDO: A disease involving the external ear.
+BMGC_DS03610,BMG_DS005065,"MONDO: An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it."
+BMGC_DS03611,BMG_DS005066,MONDO: Acute form of perichondritis of auricle.
+BMGC_DS03612,BMG_DS005067,MONDO: Chronic form of perichondritis of auricle.
+BMGC_DS03613,BMG_DS005068,"MONDO: An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species."
+BMGC_DS03614,BMG_DS005069,"MONDO: An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes."
+BMGC_DS03615,BMG_DS005070,MONDO: Chronic form of otomycosis.
+BMGC_DS03616,BMG_DS005072,MONDO: A cholesteatoma (disease) that involves the external ear.
+BMGC_DS03617,BMG_DS005075,HPO: A benign bony growth projecting outward from a bone surface within the external auditory canal. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03618,BMG_DS005077,"MONDO: A acute transudative otitis media with thin, watery and sterile effusion."
+BMGC_DS03619,BMG_DS005078,MONDO: A acute serous otitis media caused by an allergen.
+BMGC_DS03620,BMG_DS005079,MONDO: A blue drum syndrome caused by an allergen.
+BMGC_DS03621,BMG_DS005080,MONDO: A acute sanguinous otitis media caused by an allergen.
+BMGC_DS03622,BMG_DS005081,MONDO: Chronic form of serous otitis media.
+BMGC_DS03623,BMG_DS005082,MONDO: An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.
+BMGC_DS03624,BMG_DS005083,MONDO: Acute form of otosalpingitis.
+BMGC_DS03625,BMG_DS005084,MONDO: Chronic form of otosalpingitis.
+BMGC_DS03626,BMG_DS005087,"MONDO: A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection."
+BMGC_DS03627,BMG_DS005088,
+BMGC_DS03628,BMG_DS005089,
+BMGC_DS03629,BMG_DS005090,"MONDO: A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections."
+BMGC_DS03630,BMG_DS005091,"MONDO: A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection."
+BMGC_DS03631,BMG_DS005095,MONDO: Inflammation of petrous bone. | MeSH: Inflammation of PETROUS BONE.
+BMGC_DS03632,BMG_DS005096,
+BMGC_DS03633,BMG_DS005097,
+BMGC_DS03634,BMG_DS005100,
+BMGC_DS03635,BMG_DS005101,"HPO: Presence of blisters (bullae) on the tympanic membrane, often accompanied by fever, thickening, and erythematous appearance of the tympanic membrane, decreased or absent light reflex, and decreased mobility. [PMID:31971705] | MONDO: A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection."
+BMGC_DS03636,BMG_DS005106,
+BMGC_DS03637,BMG_DS005107,
+BMGC_DS03638,BMG_DS005109,
+BMGC_DS03639,BMG_DS005110,"MONDO: An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear."
+BMGC_DS03640,BMG_DS005112,
+BMGC_DS03641,BMG_DS005113,
+BMGC_DS03642,BMG_DS005114,MONDO: A cholesteatoma in the attic
+BMGC_DS03643,BMG_DS005115,"MONDO: A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear. | MeSH: A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR."
+BMGC_DS03644,BMG_DS005117,NCI: As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response. | MONDO: As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.
+BMGC_DS03645,BMG_DS005119,
+BMGC_DS03646,BMG_DS005120,
+BMGC_DS03647,BMG_DS005121,
+BMGC_DS03648,BMG_DS005123,"MeSH: An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)"
+BMGC_DS03649,BMG_DS005124,"MONDO: Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. | MeSH: Idiopathic recurrent VERTIGO associated with POSITIONAL NYSTAGMUS. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in LABYRINTHITIS and VESTIBULAR NEURONITIS, inflammation in the ear is not observed."
+BMGC_DS03650,BMG_DS005125,"MONDO: An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1) | MeSH: An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)"
+BMGC_DS03651,BMG_DS005126,MONDO: A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
+BMGC_DS03652,BMG_DS005127,"MONDO: A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma."
+BMGC_DS03653,BMG_DS005128,"MONDO: A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma."
+BMGC_DS03654,BMG_DS005129,"MONDO: A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic."
+BMGC_DS03655,BMG_DS005130,MONDO: An labyrinthitis caused by infection with Viruses.
+BMGC_DS03656,BMG_DS005131,
+BMGC_DS03657,BMG_DS005132,
+BMGC_DS03658,BMG_DS005133,
+BMGC_DS03659,BMG_DS005134,
+BMGC_DS03660,BMG_DS005135,
+BMGC_DS03661,BMG_DS005136,
+BMGC_DS03662,BMG_DS005137,
+BMGC_DS03663,BMG_DS005142,NCI: Discharge or drainage of fluid from the ear. | MONDO: Discharge or drainage of fluid from the ear.
+BMGC_DS03664,BMG_DS005154,MONDO: Chronic form of rheumatic pericarditis.
+BMGC_DS03665,BMG_DS005155,NCI: Mitral valve insufficiency secondary to rheumatic fever.
+BMGC_DS03666,BMG_DS005156,NCI: Aortic valve stenosis secondary to rheumatic fever.
+BMGC_DS03667,BMG_DS005157,NCI: Aortic valve insufficiency secondary to rheumatic fever.
+BMGC_DS03668,BMG_DS005159,MONDO: A rheumatologic disorder that involves the pulmonary valve.
+BMGC_DS03669,BMG_DS005160,NCI: Heart failure secondary to rheumatic fever.
+BMGC_DS03670,BMG_DS005161,NCI: A condition of mild to moderate high blood pressure that has no identifiable cause. | MONDO: A condition of mild to moderate high blood pressure that has no identifiable cause.
+BMGC_DS03671,BMG_DS005167,
+BMGC_DS03672,BMG_DS005168,
+BMGC_DS03673,BMG_DS005173,NCI: High blood pressure caused by an underlying medical condition. | MONDO: High blood pressure caused by an underlying medical condition.
+BMGC_DS03674,BMG_DS005174,
+BMGC_DS03675,BMG_DS005175,NCI: Mild to moderate high blood pressure that is caused by an underlying medical condition. | MONDO: Mild to moderate high blood pressure that is caused by an underlying medical condition.
+BMGC_DS03676,BMG_DS005176,
+BMGC_DS03677,BMG_DS005177,"NCI: Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations. | MONDO: Necrosis of the myocardium, as a result of interruption of the blood supply to the area. It is characterized by a severe and rapid onset of symptoms that may include chest pain, often radiating to the left arm and left side of the neck, dyspnea, sweating, and palpitations."
+BMGC_DS03678,BMG_DS005178,MONDO: Acute form of anterolateral myocardial infarction.
+BMGC_DS03679,BMG_DS005179,
+BMGC_DS03680,BMG_DS005180,
+BMGC_DS03681,BMG_DS005181,
+BMGC_DS03682,BMG_DS005182,
+BMGC_DS03683,BMG_DS005184,MONDO: A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.
+BMGC_DS03684,BMG_DS005185,
+BMGC_DS03685,BMG_DS005187,NCI: Acute inflammation of the pericardium.
+BMGC_DS03686,BMG_DS005191,"NCI: The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness. | MONDO: The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness."
+BMGC_DS03687,BMG_DS005192,
+BMGC_DS03688,BMG_DS005193,
+BMGC_DS03689,BMG_DS005194,
+BMGC_DS03690,BMG_DS005198,
+BMGC_DS03691,BMG_DS005199,"NCI: A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC) | MONDO: A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC)"
+BMGC_DS03692,BMG_DS005200,
+BMGC_DS03693,BMG_DS005201,
+BMGC_DS03694,BMG_DS005205,
+BMGC_DS03695,BMG_DS005206,NCI: Evidence of occlusion and stenosis of unspecified precerebral artery.
+BMGC_DS03696,BMG_DS005208,"HPO: The presence of atheromas or atherosclerotic plaques in the aorta. [https://orcid.org/0000-0002-0736-9199, PMID:16818829] | MONDO: A atherosclerosis that involves the aorta."
+BMGC_DS03697,BMG_DS005209,HPO: An atherosclerotic lesion located in the renal artery. [] | MONDO: A atherosclerosis that involves the renal artery.
+BMGC_DS03698,BMG_DS005219,NCI: A disorder of microvessels. | MONDO: A disease involving a capillary.
+BMGC_DS03699,BMG_DS005221,
+BMGC_DS03700,BMG_DS005222,NCI: The formation of a blood clot (thrombus) in the portal vein. | MONDO: The formation of a blood clot (thrombus) in the portal vein.
+BMGC_DS03701,BMG_DS005223,
+BMGC_DS03702,BMG_DS005228,
+BMGC_DS03703,BMG_DS005230,NCI: Bleeding from esophageal varices.
+BMGC_DS03704,BMG_DS005231,
+BMGC_DS03705,BMG_DS005232,
+BMGC_DS03706,BMG_DS005233,MONDO: A varicose disease that involves the pelvic region of trunk.
+BMGC_DS03707,BMG_DS005236,MONDO: Acute form of maxillary sinusitis.
+BMGC_DS03708,BMG_DS005237,MONDO: Acute form of frontal sinusitis.
+BMGC_DS03709,BMG_DS005238,MONDO: Acute form of ethmoid sinusitis.
+BMGC_DS03710,BMG_DS005239,MONDO: Acute form of sphenoid sinusitis.
+BMGC_DS03711,BMG_DS005242,
+BMGC_DS03712,BMG_DS005244,MONDO: Acute form of epiglottitis.
+BMGC_DS03713,BMG_DS005246,MONDO: An upper respiratory tract disease which involves inflammation of both larynx and pharynx.
+BMGC_DS03714,BMG_DS005250,
+BMGC_DS03715,BMG_DS005252,
+BMGC_DS03716,BMG_DS005259,"NCI: Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes. | MONDO: Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes."
+BMGC_DS03717,BMG_DS005260,
+BMGC_DS03718,BMG_DS005272,
+BMGC_DS03719,BMG_DS005273,MONDO: A febrile disease caused by streptococcus pneumoniae. | MeSH: A febrile disease caused by STREPTOCOCCUS PNEUMONIAE.
+BMGC_DS03720,BMG_DS005275,"ORPHANET: Inhalational anthrax is a rare acute systemic infection caused by the inhalation of &lt;i&gt;Bacillus anthracis&lt;/i&gt; spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. | MONDO: A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated."
+BMGC_DS03721,BMG_DS005282,MONDO: A asthma with a basis in a pathological type I hypersensitivity reaction.
+BMGC_DS03722,BMG_DS005284,"MONDO: An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness."
+BMGC_DS03723,BMG_DS005286,NCI: A hypersensitivity pneumonitis associated with the inhalation of organic dust from moldy barley infected with Aspergillus clavatus that is released during harvesting. | MONDO: An extrinsic allergic alveolitis caused by infection with Aspergillus.
+BMGC_DS03724,BMG_DS005287,"NCI: A hypersensitivity pneumonitis associated with the inhalation of fungal spores that are released during mushroom cultivation. | MONDO: An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. | MeSH: A form of alveolitis or pneumonitis due to an acquired hypersensitivity to inhaled antigens associated with farm environment. Antigens in the farm dust are commonly from bacteria actinomycetes (SACCHAROPOLYSPORA and THERMOACTINOMYCES), fungi, and animal proteins in the soil, straw, crops, pelts, serum, and excreta."
+BMGC_DS03725,BMG_DS005288,NCI: A hypersensitivity pneumonitis associated with the inhalation of fungal spores of Cryptostroma corticale in workers stripping the bark from maple and sycamore logs affected by sooty bark disease.
+BMGC_DS03726,BMG_DS005289,NCI: Evidence of becoming ill from breathing air from a humidifier or an air conditioning unit contaminated by various microorganisms. | MONDO: An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease.
+BMGC_DS03727,BMG_DS005296,
+BMGC_DS03728,BMG_DS005297,
+BMGC_DS03729,BMG_DS005300,"ORPHANET: A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices. | MONDO: Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner."
+BMGC_DS03730,BMG_DS005301,
+BMGC_DS03731,BMG_DS005302,NCI: Rapid or severe onset or rapid progression of pulmonary edema causing significant hypoxemia or the need for supplemental oxygen.
+BMGC_DS03732,BMG_DS005305,"MONDO: Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. | MeSH: Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)"
+BMGC_DS03733,BMG_DS005307,
+BMGC_DS03734,BMG_DS005309,
+BMGC_DS03735,BMG_DS005320,
+BMGC_DS03736,BMG_DS005321,HPO: Glossy appearance of the entire tongue surface. [PMID:19125428]
+BMGC_DS03737,BMG_DS005322,NCI: Evidence of an acute gastric ulcer with hemorrhage.
+BMGC_DS03738,BMG_DS005324,NCI: Evidence of an acute gastric ulcer with perforation.
+BMGC_DS03739,BMG_DS005334,NCI: Evidence of an acute gastrojejunal ulcer with hemorrhage.
+BMGC_DS03740,BMG_DS005340,NCI: Inflammation of the stomach resulting from alcohol ingestion. | MONDO: Inflammation of the stomach resulting from alcohol ingestion.
+BMGC_DS03741,BMG_DS005343,
+BMGC_DS03742,BMG_DS005356,NCI: Crohn's disease affecting the small intestine. | MONDO: An Crohn disease involving a pathogenic inflammatory response in the small intestine.
+BMGC_DS03743,BMG_DS005357,NCI: Crohn's disease affecting the colon. | MONDO: Crohn's disease affecting the colon.
+BMGC_DS03744,BMG_DS005362,
+BMGC_DS03745,BMG_DS005365,HPO: Narrowing of the anorectum associated with inflammation or scar tissue. [PMID:25109493]
+BMGC_DS03746,BMG_DS005366,
+BMGC_DS03747,BMG_DS005370,
+BMGC_DS03748,BMG_DS005377,NCI: Blockage of the normal flow of the contents of the gallbladder. | MONDO: Blockage of the normal flow of the contents of the gallbladder.
+BMGC_DS03749,BMG_DS005378,
+BMGC_DS03750,BMG_DS005379,NCI: A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes. | MONDO: A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes.
+BMGC_DS03751,BMG_DS005383,
+BMGC_DS03752,BMG_DS005384,
+BMGC_DS03753,BMG_DS005386,MONDO: Global enlargement of the renal parenchyma in one or both kidneys.
+BMGC_DS03754,BMG_DS005387,
+BMGC_DS03755,BMG_DS005388,MONDO: A urolithiasis that involves the lower urinary tract.
+BMGC_DS03756,BMG_DS005389,
+BMGC_DS03757,BMG_DS005391,
+BMGC_DS03758,BMG_DS005392,NCI: Inflammation of the bladder due to irradiation. | MONDO: Inflammation of the bladder due to irradiation.
+BMGC_DS03759,BMG_DS005393,
+BMGC_DS03760,BMG_DS005394,HPO: Diverticulum (sac or pouch) in the wall of the urinary bladder. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03761,BMG_DS005395,
+BMGC_DS03762,BMG_DS005396,
+BMGC_DS03763,BMG_DS005397,
+BMGC_DS03764,BMG_DS005398,
+BMGC_DS03765,BMG_DS005401,
+BMGC_DS03766,BMG_DS005404,
+BMGC_DS03767,BMG_DS005409,HPO: Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. [https://orcid.org/0000-0002-0736-9199] | MONDO: Loss of testicular volume.
+BMGC_DS03768,BMG_DS005411,
+BMGC_DS03769,BMG_DS005412,
+BMGC_DS03770,BMG_DS005413,NCI: Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma. | MONDO: Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma.
+BMGC_DS03771,BMG_DS005416,"NCI: Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment. | MONDO: Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment."
+BMGC_DS03772,BMG_DS005418,MONDO: Acute form of salpingo-oophoritis.
+BMGC_DS03773,BMG_DS005419,MONDO: Chronic form of salpingo-oophoritis.
+BMGC_DS03774,BMG_DS005424,
+BMGC_DS03775,BMG_DS005425,"NCI: A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. | MONDO: A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions."
+BMGC_DS03776,BMG_DS005426,
+BMGC_DS03777,BMG_DS005427,MONDO: Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.
+BMGC_DS03778,BMG_DS005428,MONDO: Endometriosis that affects the intesines.
+BMGC_DS03779,BMG_DS005429,
+BMGC_DS03780,BMG_DS005431,
+BMGC_DS03781,BMG_DS005434,NCI: A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. | MONDO: A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection.
+BMGC_DS03782,BMG_DS005435,
+BMGC_DS03783,BMG_DS005440,NCI: Leukoplakia of the vagina. | MONDO: Leukoplakia of the vagina.
+BMGC_DS03784,BMG_DS005442,
+BMGC_DS03785,BMG_DS005447,MONDO: Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause.
+BMGC_DS03786,BMG_DS005450,
+BMGC_DS03787,BMG_DS005457,NCI: The unintentional or intentional loss of a pregnancy before 22 weeks gestation.
+BMGC_DS03788,BMG_DS005460,
+BMGC_DS03789,BMG_DS005461,
+BMGC_DS03790,BMG_DS005462,
+BMGC_DS03791,BMG_DS005469,
+BMGC_DS03792,BMG_DS005471,
+BMGC_DS03793,BMG_DS005487,NCI: Acute inflammation of the lymph nodes.
+BMGC_DS03794,BMG_DS005491,
+BMGC_DS03795,BMG_DS005494,
+BMGC_DS03796,BMG_DS005496,"HPO: Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. [PMID:26841242] | MONDO: This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful. | MeSH: Chronic urticaria with identified triggering factor which is either physical, e.g., vibratory urticaria, or non-physical, e.g., aquagenic urticaria."
+BMGC_DS03797,BMG_DS005497,"NCI: An infectious process affecting a joint. Causative agents include bacteria, viruses, fungi, and parasites."
+BMGC_DS03798,BMG_DS005498,NCI: Arthropathy resulting from Behcet's syndrome. | MONDO: Arthropathy resulting from Behcet's syndrome.
+BMGC_DS03799,BMG_DS005500,
+BMGC_DS03800,BMG_DS005501,
+BMGC_DS03801,BMG_DS005502,
+BMGC_DS03802,BMG_DS005503,
+BMGC_DS03803,BMG_DS005504,
+BMGC_DS03804,BMG_DS005505,
+BMGC_DS03805,BMG_DS005506,
+BMGC_DS03806,BMG_DS005507,
+BMGC_DS03807,BMG_DS005510,
+BMGC_DS03808,BMG_DS005511,"NCI: Juvenile rheumatoid arthritis affecting four or fewer joints, usually asymmetrically. The most commonly affected joints are the knee, elbow, wrist, and ankle."
+BMGC_DS03809,BMG_DS005512,
+BMGC_DS03810,BMG_DS005515,
+BMGC_DS03811,BMG_DS005521,
+BMGC_DS03812,BMG_DS005524,MONDO: A disease involving the articular cartilage of joint.
+BMGC_DS03813,BMG_DS005529,
+BMGC_DS03814,BMG_DS005532,
+BMGC_DS03815,BMG_DS005533,
+BMGC_DS03816,BMG_DS005546,
+BMGC_DS03817,BMG_DS005547,MONDO: Any degenerative disorder affecting one or more vertebral disks of the lumbar spine.
+BMGC_DS03818,BMG_DS005554,"MONDO: Any disease of a degenerative nature that affects the intervertebral disk. | MeSH: Degenerative changes in the INTERVERTEBRAL DISC due to aging or structural damage, especially to the vertebral end-plates."
+BMGC_DS03819,BMG_DS005568,
+BMGC_DS03820,BMG_DS005571,"MeSH: Inflammation or irritation of a SYNOVIAL BURSA, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin."
+BMGC_DS03821,BMG_DS005572,
+BMGC_DS03822,BMG_DS005573,
+BMGC_DS03823,BMG_DS005577,
+BMGC_DS03824,BMG_DS005578,
+BMGC_DS03825,BMG_DS005579,
+BMGC_DS03826,BMG_DS005580,MONDO: A tendinitis that involves the patella.
+BMGC_DS03827,BMG_DS005582,MONDO: A tendinitis that involves the tibialis.
+BMGC_DS03828,BMG_DS005583,"MONDO: A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related. | MeSH: A bony outgrowth on the lower surface of the CALCANEUS. Though often presenting along with plantar fasciitis (FASCIITIS, PLANTAR), they are not considered causally related."
+BMGC_DS03829,BMG_DS005588,
+BMGC_DS03830,BMG_DS005589,
+BMGC_DS03831,BMG_DS005591,
+BMGC_DS03832,BMG_DS005595,"NCI: An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain. | MONDO: An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain. | MeSH: Inflammation of a muscle or muscle tissue."
+BMGC_DS03833,BMG_DS005596,"MONDO: A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. | MeSH: A fibromatosis of the plantar fascia characterized by thickening of the fibrous bands on the plantar aponeurosis in the sole of the foot and toes."
+BMGC_DS03834,BMG_DS005597,NCI: A form of myositis that is characterized by the formation of connective tissue within the muscle. | MONDO: A form of myositis that is characterized by the formation of connective tissue within the muscle.
+BMGC_DS03835,BMG_DS005599,
+BMGC_DS03836,BMG_DS005605,
+BMGC_DS03837,BMG_DS005607,"MONDO: A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls."
+BMGC_DS03838,BMG_DS005608,
+BMGC_DS03839,BMG_DS005609,
+BMGC_DS03840,BMG_DS005610,NCI: Aseptic necrosis involving the head of the humerus.
+BMGC_DS03841,BMG_DS005611,
+BMGC_DS03842,BMG_DS005612,
+BMGC_DS03843,BMG_DS005622,
+BMGC_DS03844,BMG_DS005623,"ORPHANET: A rare structural developmental eye defect characterized by a persistent cyst replacing the eye due to partial or complete failure of the invagination of the optic vesicle during the fetal period. If the failure of invagination is only partial, dysplastic ocular structures may be present. The wall of the cyst is composed of connective tissue lined by neuroglial material. The defect is usually unilateral and may be an isolated finding or occur in association with intra- or extraocular malformations."
+BMGC_DS03845,BMG_DS005626,"MONDO: A non-neoplastic disorder that is the result of defects of vascular morphogenesis. | MeSH: A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases."
+BMGC_DS03846,BMG_DS005631,NCI: Mitral valve insufficiency that is present at birth. | MONDO: Mitral valve insufficiency that is present at birth.
+BMGC_DS03847,BMG_DS005632,
+BMGC_DS03848,BMG_DS005634,"MONDO: Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate."
+BMGC_DS03849,BMG_DS005635,"HPO: Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity. [PMID:21331089, PMID:26171570]"
+BMGC_DS03850,BMG_DS005636,"SNOMEDCT_US: A rare autosomal dominant disorder with features of aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying manifestations from infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. | MONDO: Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation."
+BMGC_DS03851,BMG_DS005637,
+BMGC_DS03852,BMG_DS005638,NCI: A usually asymptomatic hereditary disorder which is often associated with polycystic kidney disease. It is characterized by the presence of fluid-filled biliary cysts throughout the liver. | MONDO: An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.
+BMGC_DS03853,BMG_DS005639,"HPO: An abnormal osseous union (fusion) between the radius and the ulna. [https://orcid.org/0000-0002-0736-9199] | MONDO: Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living."
+BMGC_DS03854,BMG_DS005641,MONDO: A rib that is attached to a cervical vertebra or enlarged transverse processes. | MeSH: A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.
+BMGC_DS03855,BMG_DS005643,"MeSH: Disorders caused by nutritional imbalance, either overnutrition or undernutrition, in the FETUS in utero."
+BMGC_DS03856,BMG_DS005652,"NCI: An infection with the Cytomegalovirus that is present from birth. | MeSH: Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults."
+BMGC_DS03857,BMG_DS005653,NCI: Inflammation of the umbilical cord stump in newborns.
+BMGC_DS03858,BMG_DS005654,
+BMGC_DS03859,BMG_DS005655,
+BMGC_DS03860,BMG_DS005657,MONDO: Jaundice in perinates due to cellular damage of liver.
+BMGC_DS03861,BMG_DS005658,"NCI: Hyperglycemia in the newborn due to a defect in the secretion or function of insulin. | MONDO: Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life."
+BMGC_DS03862,BMG_DS005659,"MONDO: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4) | MeSH: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)"
+BMGC_DS03863,BMG_DS005660,"NCI: A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. | MONDO: A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins."
+BMGC_DS03864,BMG_DS005662,NCI: Blood glucose concentration below the lower limit of established reference ranges in a newborn.
+BMGC_DS03865,BMG_DS005664,
+BMGC_DS03866,BMG_DS005665,NCI: A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn. | MONDO: A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn.
+BMGC_DS03867,BMG_DS005668,"NCI: A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. | MONDO: A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition."
+BMGC_DS03868,BMG_DS005669,
+BMGC_DS03869,BMG_DS005671,
+BMGC_DS03870,BMG_DS005675,NCI: Abnormal hypersynchronous electrical activity in the brain of a newborn which may be associated with stereotyped movements or autonomic changes.
+BMGC_DS03871,BMG_DS005688,
+BMGC_DS03872,BMG_DS005689,
+BMGC_DS03873,BMG_DS005690,"MONDO: Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children. | MeSH: A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY."
+BMGC_DS03874,BMG_DS005691,MONDO: A ischemic disease that involves the retina.
+BMGC_DS03875,BMG_DS005692,"HPO: Paralysis of the external ocular muscles. [https://orcid.org/0000-0002-0736-9199] | MeSH: Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles."
+BMGC_DS03876,BMG_DS005693,MeSH: Pain in the joint.
+BMGC_DS03877,BMG_DS005694,NCI: A concretion in the urethra. | MONDO: A concretion in the urethra.
+BMGC_DS03878,BMG_DS005695,"MONDO: A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. | MeSH: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS)."
+BMGC_DS03879,BMG_DS005696,MeSH: Absence of hair from areas where it is normally present.
+BMGC_DS03880,BMG_DS005697,"MONDO: Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. | MeSH: Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased."
+BMGC_DS03881,BMG_DS005698,MONDO: An arthritis affecting five or more separate joints. | MeSH: Acute or chronic inflammation of JOINTS.
+BMGC_DS03882,BMG_DS005699,MONDO: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. | MeSH: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.
+BMGC_DS03883,BMG_DS005700,"ORPHANET: Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. | MONDO: Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. | MeSH: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita."
+BMGC_DS03884,BMG_DS005701,"NCI: A localized, benign but sometimes aggressive osteolytic lesion of the jaws characterized by osteoclast-type giant cells in a vascular stroma. It more frequently affects the anterior jaws, in particular the mandible. (WHO 2017) | MONDO: A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure. | MeSH: A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw."
+BMGC_DS03885,BMG_DS005702,"MONDO: Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps). | MeSH: A syndrome of cutaneous changes associated with sweat retention and extravasation of sweat at different levels in the skin. Miliaria rubra, or prickly heat, results from apocrine duct obstruction. The sweat then seeps into the epidermis, producing pruritic erythematous papulovesicles. (From Dorland, 27th ed)"
+BMGC_DS03886,BMG_DS005703,MeSH: An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement.
+BMGC_DS03887,BMG_DS005704,"NCI: A variant of parapsoriasis in which the plaques are large. | MeSH: The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis)."
+BMGC_DS03888,BMG_DS005707,MONDO: A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.
+BMGC_DS03889,BMG_DS005712,"MONDO: Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts. | MeSH: Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease."
+BMGC_DS03890,BMG_DS005713,"MeSH: Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus."
+BMGC_DS03891,BMG_DS005714,MONDO: Inflammation of the colon due to colonic ischemia resulting from alterations in systemic circulation or local vasculature. | MeSH: Inflammation of the COLON due to colonic ISCHEMIA resulting from alterations in systemic circulation or local vasculature.
+BMGC_DS03892,BMG_DS005715,
+BMGC_DS03893,BMG_DS005716,"NCI: An autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the enzyme coproporphyrinogen oxidase. It results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations. | MONDO: A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. | MeSH: An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS."
+BMGC_DS03894,BMG_DS005717,"MONDO: Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions. | MeSH: An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen."
+BMGC_DS03895,BMG_DS005718,"MONDO: A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues. | MeSH: A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues."
+BMGC_DS03896,BMG_DS005719,"MONDO: A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. | MeSH: A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)"
+BMGC_DS03897,BMG_DS005720,MeSH: A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.
+BMGC_DS03898,BMG_DS005721,"MONDO: A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria. | MeSH: A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G."
+BMGC_DS03899,BMG_DS005722,MeSH: A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move.
+BMGC_DS03900,BMG_DS005723,MONDO: An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications. | MeSH: A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move.
+BMGC_DS03901,BMG_DS005724,"MONDO: Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections. | MeSH: A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C."
+BMGC_DS03902,BMG_DS005725,"MONDO: Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. | MeSH: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine."
+BMGC_DS03903,BMG_DS005726,MONDO: The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis. | MeSH: An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.
+BMGC_DS03904,BMG_DS005727,"MONDO: A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly. | MeSH: An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces."
+BMGC_DS03905,BMG_DS005728,"MONDO: A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis. | MeSH: An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating."
+BMGC_DS03906,BMG_DS005729,MONDO: Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum. | MeSH: Infection with roundworms of the genus ANISAKIS. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute NAUSEA; VOMITING; or penetrate into the wall of the DIGESTIVE TRACT where they give rise to EOSINOPHILIC GRANULOMA in the STOMACH; INTESTINES; or the OMENTUM.
+BMGC_DS03907,BMG_DS005734,MONDO: Skin diseases caused by bacteria. | MeSH: Skin diseases caused by bacteria.
+BMGC_DS03908,BMG_DS005735,MeSH: Skin diseases caused by viruses.
+BMGC_DS03909,BMG_DS005736,MeSH: Infections with nematodes of the order OXYURIDA.
+BMGC_DS03910,BMG_DS005738,"MONDO: A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. | MeSH: A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)"
+BMGC_DS03911,BMG_DS005741,"MONDO: Dental caries involving the tooth root, cementum, or cervical area of the tooth. | MeSH: Dental caries involving the tooth root, cementum, or cervical area of the tooth."
+BMGC_DS03912,BMG_DS005742,MeSH: The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING.
+BMGC_DS03913,BMG_DS005743,"MONDO: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) | MeSH: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)"
+BMGC_DS03914,BMG_DS005744,MeSH: A group of muscle diseases associated with abnormal mitochondria function.
+BMGC_DS03915,BMG_DS005745,MeSH: A group of muscle diseases associated with abnormal mitochondria function.
+BMGC_DS03916,BMG_DS005746,MONDO: Myopathy caused by mitochondrial abnormalities. | MeSH: A group of muscle diseases associated with abnormal mitochondria function.
+BMGC_DS03917,BMG_DS005747,"MONDO: MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations. | MeSH: A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)"
+BMGC_DS03918,BMG_DS005748,"MONDO: A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. | MeSH: A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)"
+BMGC_DS03919,BMG_DS005749,"MONDO: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) | MeSH: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)"
+BMGC_DS03920,BMG_DS005750,"MONDO: Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. | MeSH: Virus diseases caused by CALICIVIRIDAE. They include HEPATITIS E; VESICULAR EXANTHEMA OF SWINE; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans."
+BMGC_DS03921,BMG_DS005751,"MONDO: A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. | MeSH: A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)"
+BMGC_DS03922,BMG_DS005752,"MeSH: Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic."
+BMGC_DS03923,BMG_DS005753,"MONDO: Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. | MeSH: Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic."
+BMGC_DS03924,BMG_DS005754,"MONDO: A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems. | MeSH: A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in PREGNANT PEOPLE with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION."
+BMGC_DS03925,BMG_DS005755,MeSH: Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality.
+BMGC_DS03926,BMG_DS005756,"MONDO: Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). | MeSH: A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait."
+BMGC_DS03927,BMG_DS005759,"MONDO: A disease that involves the superficial vasculature. | MeSH: Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area."
+BMGC_DS03928,BMG_DS005760,"MONDO: An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak. | MeSH: A contact dermatitis due to allergic sensitization to various substances. These substances subsequently produce inflammatory reactions in the skin of those who have acquired hypersensitivity to them as a result of prior exposure."
+BMGC_DS03929,BMG_DS005761,"MONDO: An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site. | MeSH: A non-allergic contact dermatitis caused by prolonged exposure to irritants and not explained by delayed hypersensitivity mechanisms."
+BMGC_DS03930,BMG_DS005762,"MONDO: A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin. | MeSH: A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin."
+BMGC_DS03931,BMG_DS005763,"MONDO: Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. | MeSH: A nonimmunologic, chemically induced type of photosensitivity producing a sometimes vesiculating dermatitis. It results in hyperpigmentation and desquamation of the light-exposed areas of the skin."
+BMGC_DS03932,BMG_DS005764,"MeSH: Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance."
+BMGC_DS03933,BMG_DS005765,"MONDO: A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. | MeSH: A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections."
+BMGC_DS03934,BMG_DS005766,"MONDO: A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. | MeSH: A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident."
+BMGC_DS03935,BMG_DS005767,"SNOMEDCT_US: A rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. The prevalence is unknown but it is one of the rarest forms of porokeratosis. The disease is more frequently seen in males. The exact etiology is unknown. A possible locus for PPPD has been found on chromosome 12q24.1-24.2. Usually follows a dominant (autosomal or X-linked) pattern of inheritance. | MONDO: Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. | MeSH: A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis."
+BMGC_DS03936,BMG_DS005768,"MONDO: A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella. | MeSH: A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis."
+BMGC_DS03937,BMG_DS005769,"MeSH: Conditions in which there is histological damage to the lower epidermis along with a grouped chronic inflammatory infiltrate in the papillary dermis disturbing the interface between the epidermis and dermis. LICHEN PLANUS is the prototype of all lichenoid eruptions. (From Rook et al., Textbook of Dermatology, 4th ed, p398)"
+BMGC_DS03938,BMG_DS005770,"MONDO: A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses. | MeSH: A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses."
+BMGC_DS03939,BMG_DS005775,"MONDO: The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses). | MeSH: Mucoid states characterized by the elevated deposition and accumulation of mucin (mucopolysaccharides) in dermal tissue. The fibroblasts are responsible for the production of acid mucopolysaccharides (GLYCOSAMINOGLYCANS) in the ground substance of the connective tissue system. When fibroblasts produce abnormally large quantities of mucopolysaccharides as hyaluronic acid, chondroitin sulfate, or heparin, they accumulate in large amounts in the dermis."
+BMGC_DS03940,BMG_DS005776,"MeSH: The tearing or bursting of the weakened wall of the aneurysmal sac, usually heralded by sudden worsening pain. The great danger of a ruptured aneurysm is the large amount of blood spilling into the surrounding tissues and cavities, causing HEMORRHAGIC SHOCK."
+BMGC_DS03941,BMG_DS005777,"MONDO: Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs. | MeSH: An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm."
+BMGC_DS03942,BMG_DS005778,MONDO: An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. | MeSH: An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.
+BMGC_DS03943,BMG_DS005780,"MONDO: Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). | MeSH: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)"
+BMGC_DS03944,BMG_DS005781,"MONDO: A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities."
+BMGC_DS03945,BMG_DS005782,"MONDO: A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability."
+BMGC_DS03946,BMG_DS005783,"MONDO: Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. | MeSH: Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology."
+BMGC_DS03947,BMG_DS005784,"MONDO: Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. | MeSH: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY."
+BMGC_DS03948,BMG_DS005785,"MONDO: Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability."
+BMGC_DS03949,BMG_DS005787,"NCI: A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities. | MONDO: Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate."
+BMGC_DS03950,BMG_DS005788,"MONDO: Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. | MeSH: Congenital craniostenosis with syndactyly."
+BMGC_DS03951,BMG_DS005789,"MONDO: Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints."
+BMGC_DS03952,BMG_DS005790,"MONDO: Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature."
+BMGC_DS03953,BMG_DS005791,"MONDO: A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) | MeSH: A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy."
+BMGC_DS03954,BMG_DS005792,NCI: A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone. | MONDO: Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.
+BMGC_DS03955,BMG_DS005793,"MONDO: A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. | MeSH: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES."
+BMGC_DS03956,BMG_DS005794,"SNOMEDCT_US: A rare heterotaxia characterized by complex congenital heart malformations and abnormal lateralization of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor. | MeSH: Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome."
+BMGC_DS03957,BMG_DS005796,ORPHANET: A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance. | MONDO: Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
+BMGC_DS03958,BMG_DS005797,"MONDO: Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females."
+BMGC_DS03959,BMG_DS005798,"MONDO: A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. | MeSH: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity."
+BMGC_DS03960,BMG_DS005800,"ORPHANET: An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. | MONDO: Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate."
+BMGC_DS03961,BMG_DS005801,"ORPHANET: Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C). | MONDO: Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH)."
+BMGC_DS03962,BMG_DS005803,
+BMGC_DS03963,BMG_DS005804,MONDO: An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa.
+BMGC_DS03964,BMG_DS005809,
+BMGC_DS03965,BMG_DS005819,HPO: Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS03966,BMG_DS005820,"HPO: A benign biphasic tumor of the breast with epithelial and stromal components. [https://orcid.org/0000-0002-0736-9199, PMID:23396888] | MONDO: A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported."
+BMGC_DS03967,BMG_DS005821,"NCI: A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. | MONDO: A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure."
+BMGC_DS03968,BMG_DS005823,"MeSH: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions."
+BMGC_DS03969,BMG_DS005825,MONDO: A hardening of the kidney glomerulus caused by scarring of the blood vessels.
+BMGC_DS03970,BMG_DS005829,"MONDO: A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system."
+BMGC_DS03971,BMG_DS005830,NCI: Blockage of the normal flow of contents of the urinary tract. | MONDO: Blockage of the normal flow of contents of the urinary tract.
+BMGC_DS03972,BMG_DS005832,NCI: A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. | MONDO: A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma.
+BMGC_DS03973,BMG_DS005833,NCI: An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm. | MONDO: An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm.
+BMGC_DS03974,BMG_DS005834,NCI: An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. | MONDO: An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma.
+BMGC_DS03975,BMG_DS005835,
+BMGC_DS03976,BMG_DS005836,NCI: A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia. | MONDO: A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia.
+BMGC_DS03977,BMG_DS005837,NCI: An adenoma characterized by the presence of papillary epithelial patterns. | MONDO: An adenoma characterized by the presence of papillary epithelial patterns.
+BMGC_DS03978,BMG_DS005838,MONDO: Virus diseases caused by the arenaviridae. | MeSH: Virus diseases caused by the ARENAVIRIDAE.
+BMGC_DS03979,BMG_DS005840,NCI: A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. | MONDO: A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.
+BMGC_DS03980,BMG_DS005843,"NCI: A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the gene for the mitochondrial DNA polymerase POLG. Clinical signs are usually not present at birth but develop within the first two years of life and include hypoglycemia from underlying liver dysfunction, failure to thrive, spasticity, myoclonus and seizures. The clinical course follows a progression of neurologic disability and hepatic failure. The prognosis is poor with survival outside the first decade unlikely. | MONDO: A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. | MeSH: A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)"
+BMGC_DS03981,BMG_DS005844,"MONDO: An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. | MeSH: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)"
+BMGC_DS03982,BMG_DS005845,"ORPHANET: A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant."
+BMGC_DS03983,BMG_DS005847,"MeSH: A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence."
+BMGC_DS03984,BMG_DS005849,
+BMGC_DS03985,BMG_DS005850,"MeSH: A common and benign breast disease characterized by varying degree of fibrocystic changes in the breast tissue. There are three major patterns of morphological changes, including FIBROSIS, formation of CYSTS, and proliferation of glandular tissue (adenosis). The fibrocystic breast has a dense irregular, lumpy, bumpy consistency."
+BMGC_DS03986,BMG_DS005851,NCI: A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present. | MONDO: A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present.
+BMGC_DS03987,BMG_DS005852,"HPO: A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO)"
+BMGC_DS03988,BMG_DS005853,"ORPHANET: Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population. | MONDO: Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population."
+BMGC_DS03989,BMG_DS005854,"MONDO: Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure. | MeSH: A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072)"
+BMGC_DS03990,BMG_DS005855,"HPO: A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area. [NCIT:C4298, PMID:25484503, PMID:25927152] | MONDO: A hemangioma characterized by the presence of epithelioid endothelial cells."
+BMGC_DS03991,BMG_DS005856,NCI: A hemangioma arising from skeletal muscle. | MONDO: A hemangioma arising from skeletal muscle.
+BMGC_DS03992,BMG_DS005857,
+BMGC_DS03993,BMG_DS005858,NCI: A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. | MONDO: A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.
+BMGC_DS03994,BMG_DS005859,"NCI: A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. | MONDO: A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma."
+BMGC_DS03995,BMG_DS005861,"NCI: A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei. | MONDO: A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei."
+BMGC_DS03996,BMG_DS005862,"MONDO: A high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS."
+BMGC_DS03997,BMG_DS005863,"MONDO: Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma."
+BMGC_DS03998,BMG_DS005865,NCI: A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma. | MONDO: A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma.
+BMGC_DS03999,BMG_DS005866,"MONDO: A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor."
+BMGC_DS04000,BMG_DS005869,"HPO: A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]. [] | MONDO: A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva."
+BMGC_DS04001,BMG_DS005870,NCI: Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site. | MONDO: Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site.
+BMGC_DS04002,BMG_DS005872,"HPO: Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells. [https://orcid.org/0000-0002-0736-9199, PMID:21717450] | MONDO: Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis."
+BMGC_DS04003,BMG_DS005874,
+BMGC_DS04004,BMG_DS005875,"SNOMEDCT_US: A rare soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body. | MONDO: An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma)."
+BMGC_DS04005,BMG_DS005876,NCI: A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas. | MONDO: A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.
+BMGC_DS04006,BMG_DS005877,"NCI: A diverse group of carcinomas of the thymus gland, previously known as thymoma type C. It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation. | MONDO: Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential."
+BMGC_DS04007,BMG_DS005878,"NCI: Encephalopathy that is associated with human immunodeficiency virus (HIV) infection. | MeSH: A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)"
+BMGC_DS04008,BMG_DS005879,"MONDO: Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances. | MeSH: An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein (PRIONS)."
+BMGC_DS04009,BMG_DS005880,"MONDO: Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. | MeSH: Virus diseases caused by CALICIVIRIDAE. They include HEPATITIS E; VESICULAR EXANTHEMA OF SWINE; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans."
+BMGC_DS04010,BMG_DS005881,"MeSH: A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin."
+BMGC_DS04011,BMG_DS005882,"NCI: Inflammation of interstitial lung tissue, usually associated with infection. | MeSH: A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features."
+BMGC_DS04012,BMG_DS005883,"MeSH: A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features."
+BMGC_DS04013,BMG_DS005884,"MONDO: A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom. | MeSH: ANGINA PECTORIS or angina-like chest pain with a normal coronary arteriogram and positive EXERCISE TEST. The cause of the syndrome is unknown. While its recognition is of clinical importance, its prognosis is excellent. (Braunwald, Heart Disease, 4th ed, p1346; Jablonski Dictionary of Syndromes & Eponymic Diseases, 2d ed). It is different from METABOLIC SYNDROME X, a syndrome characterized by INSULIN RESISTANCE and HYPERINSULINEMIA, that has increased risk for cardiovascular disease."
+BMGC_DS04014,BMG_DS005885,"MONDO: Hyperplasia characterized by the presence of a focal proliferation of epithelial cells. | MeSH: Hyperplasia of the mucous membrane of the lips, tongue, and less commonly, the buccal mucosa, floor of the mouth, and palate, presenting soft, painless, round to oval sessile papules about 1 to 4 mm in diameter. The condition usually occurs in children and young adults and has familial predilection, lasting for several months, sometimes years, before running its course. A viral etiology is suspected, the isolated organism being usually the human papillomavirus. (Jablonski, Illustrated Dictionary of Dentistry; Belshe, Textbook of Human Virology, 2d ed, p954)"
+BMGC_DS04015,BMG_DS005886,"MONDO: OBSOLETE. A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction. | MeSH: A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION."
+BMGC_DS04016,BMG_DS005887,"MONDO: A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly. | MeSH: A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)"
+BMGC_DS04017,BMG_DS005888,"MONDO: Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterized by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioral disturbances. | MeSH: A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)"
+BMGC_DS04018,BMG_DS005889,"MeSH: Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells."
+BMGC_DS04019,BMG_DS005892,"MONDO: WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. | MeSH: A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY."
+BMGC_DS04020,BMG_DS005893,"MONDO: CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. | MeSH: A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome."
+BMGC_DS04021,BMG_DS005894,"MONDO: A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral. | MeSH: Oral lesions accompanying cutaneous lichen planus or often occurring alone. The buccal mucosa, lips, gingivae, floor of the mouth, and palate are usually affected (in a descending order of frequency). Typically, oral lesions consist of radiating white or gray, velvety, threadlike lines, arranged in a reticular pattern, at the intersection of which there may be minute, white, elevated dots or streaks (Wickham's striae). (Jablonski, Illustrated Dictionary of Dentistry)"
+BMGC_DS04022,BMG_DS005895,"ORPHANET: A rare hematologic disease characterized by eosinophilia without evidence of clonality persisting for at least six months, for which no underlying cause can be identified. The condition is associated with signs of organ damage and dysfunction. Clinical manifestations are highly variable, depending on the organ systems involved, and include rapidly developing, life-threatening cardiovascular or neurological complications. | MeSH: A heterogeneous group of disorders with the common feature of prolonged eosinophilia of unknown cause and associated organ system dysfunction, including the heart, central nervous system, kidneys, lungs, gastrointestinal tract, and skin. There is a massive increase in the number of EOSINOPHILS in the blood, mimicking leukemia, and extensive eosinophilic infiltration of the various organs."
+BMGC_DS04023,BMG_DS005896,"ORPHANET: A rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma. | MONDO: Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma. | MeSH: A heterogeneous group of disorders with the common feature of prolonged eosinophilia of unknown cause and associated organ system dysfunction, including the heart, central nervous system, kidneys, lungs, gastrointestinal tract, and skin. There is a massive increase in the number of EOSINOPHILS in the blood, mimicking leukemia, and extensive eosinophilic infiltration of the various organs."
+BMGC_DS04024,BMG_DS005897,"MeSH: Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity."
+BMGC_DS04025,BMG_DS005898,"MONDO: Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity. | MeSH: Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity."
+BMGC_DS04026,BMG_DS005900,"MONDO: Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. | MeSH: A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)"
+BMGC_DS04027,BMG_DS005901,"MeSH: Any infection acquired in the community, that is, contrasted with those acquired in a health care facility (CROSS INFECTION). An infection would be classified as community-acquired if the patient had not recently been in a health care facility or been in contact with someone who had been recently in a health care facility."
+BMGC_DS04028,BMG_DS005903,"MONDO: Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness. | MeSH: Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness."
+BMGC_DS04029,BMG_DS005904,"MONDO: Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL. | MeSH: A systemic, large-cell, non-Hodgkin, malignant lymphoma characterized by cells with pleomorphic appearance and expressing the CD30 ANTIGEN. These so-called hallmark cells have lobulated and indented nuclei. This lymphoma is often mistaken for metastatic carcinoma and MALIGNANT HISTIOCYTOSIS."
+BMGC_DS04030,BMG_DS005905,"MONDO: Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features. | MeSH: Clinically benign, histologically malignant, recurrent cutaneous T-cell lymphoproliferative disorder characterized by an infiltration of large atypical cells surrounded by inflammatory cells. The atypical cells resemble REED-STERNBERG CELLS of HODGKIN DISEASE or the malignant cells of CUTANEOUS T-CELL LYMPHOMA. In some cases, lymphomatoid papulosis progresses to lymphomatous conditions including MYCOSIS FUNGOIDES; HODGKIN DISEASE; CUTANEOUS T-CELL LYMPHOMA; or ANAPLASTIC LARGE-CELL LYMPHOMA."
+BMGC_DS04031,BMG_DS005906,"MONDO: An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy. | MeSH: Epithelial hyperplasia of the oral mucosa associated with Epstein-Barr virus (HERPESVIRUS 4, HUMAN) and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy."
+BMGC_DS04032,BMG_DS005909,"MONDO: A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. | MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN."
+BMGC_DS04033,BMG_DS005910,"MeSH: Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)"
+BMGC_DS04034,BMG_DS005912,"MONDO: A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. | MeSH: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)"
+BMGC_DS04035,BMG_DS005913,"MONDO: An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. | MeSH: The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)"
+BMGC_DS04036,BMG_DS005915,"MONDO: Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications. | MeSH: Tuberculosis resistant to chemotherapy with two or more ANTITUBERCULAR AGENTS, including at least ISONIAZID and RIFAMPICIN. The problem of resistance is particularly troublesome in tuberculous OPPORTUNISTIC INFECTIONS associated with HIV INFECTIONS. It requires the use of second line drugs which are more toxic than the first line regimens. TB with isolates that have developed further resistance to at least three of the six classes of second line drugs is defined as EXTENSIVELY DRUG-RESISTANT TUBERCULOSIS."
+BMGC_DS04037,BMG_DS005916,"MONDO: A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs. | MeSH: Tuberculosis resistant to chemotherapy with two or more ANTITUBERCULAR AGENTS, including at least ISONIAZID and RIFAMPICIN. The problem of resistance is particularly troublesome in tuberculous OPPORTUNISTIC INFECTIONS associated with HIV INFECTIONS. It requires the use of second line drugs which are more toxic than the first line regimens. TB with isolates that have developed further resistance to at least three of the six classes of second line drugs is defined as EXTENSIVELY DRUG-RESISTANT TUBERCULOSIS."
+BMGC_DS04038,BMG_DS005918,"MONDO: An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo. | MeSH: An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO."
+BMGC_DS04039,BMG_DS005924,"MeSH: Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE."
+BMGC_DS04040,BMG_DS005930,"MONDO: Infections caused by viruses of the genus cardiovirus, family picornaviridae. | MeSH: Infections caused by viruses of the genus CARDIOVIRUS, family PICORNAVIRIDAE."
+BMGC_DS04041,BMG_DS005932,"MONDO: A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. | MeSH: A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin."
+BMGC_DS04042,BMG_DS005933,"MONDO: A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy. | MeSH: A benign neoplasm of muscle (usually smooth muscle) with glandular elements. It occurs most frequently in the uterus and uterine ligaments. (Stedman, 25th ed)"
+BMGC_DS04043,BMG_DS005934,MONDO: A carcinoma composed of malignant glandular cells and malignant squamous cells. | MeSH: A mixed adenocarcinoma and squamous cell or epidermoid carcinoma.
+BMGC_DS04044,BMG_DS005935,"MONDO: Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy. | MeSH: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)"
+BMGC_DS04045,BMG_DS005936,"MONDO: A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. | MeSH: A malignant tumor composed of more than one type of neoplastic tissue. (Dorland, 27th ed)"
+BMGC_DS04046,BMG_DS005937,"MeSH: A tumor, basically a carcinoma with a single sarcoma such as leiomyosarcoma or angiosarcoma or multiple sarcomas of uterine origin. The role of estrogen has been postulated as a possible etiological factor in this tumor. (Holland et al., Cancer Medicine, 3d ed, p1703)"
+BMGC_DS04047,BMG_DS005939,"MONDO: A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic. | MeSH: A malignant neoplasm of the lung composed chiefly or entirely of immature undifferentiated cells (i.e., blast forms) with little or virtually no stroma. (From Stedman, 25th ed)"
+BMGC_DS04048,BMG_DS005940,"MONDO: A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. | MeSH: A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS)."
+BMGC_DS04049,BMG_DS005941,MONDO: A neoplasm (disease) that involves the adipose tissue. | MeSH: Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue.
+BMGC_DS04050,BMG_DS005942,"MONDO: A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms. | MeSH: A benign neoplasm composed of a mixture of adipose tissue and blood vessels. (Dorland, 27th ed)"
+BMGC_DS04051,BMG_DS005943,"MONDO: A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. | MeSH: A benign tumor containing vascular, adipose, and muscle elements. It occurs most often in the kidney with smooth muscle elements (angiolipoleiomyoma) in association with tuberous sclerosis. (Dorland, 27th ed)"
+BMGC_DS04052,BMG_DS005944,"MONDO: A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma. | MeSH: A liposarcoma containing round mesenchymal cells and a myxoid extracellular matrix in stroma."
+BMGC_DS04053,BMG_DS005946,"MONDO: A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. | MeSH: A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)"
+BMGC_DS04054,BMG_DS005947,"MONDO: A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. | MeSH: A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS04055,BMG_DS005948,"MeSH: Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones."
+BMGC_DS04056,BMG_DS005950,"MONDO: A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent. | MeSH: A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)"
+BMGC_DS04057,BMG_DS005951,"MONDO: A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. | MeSH: Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue."
+BMGC_DS04058,BMG_DS005952,"MONDO: A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage."
+BMGC_DS04059,BMG_DS005953,"MeSH: A sarcoma of the deep layers of the skin. The tumors are locally aggressive tends to recur but rarely metastatic. It can be classified into variants depending on the cell type tumors are derived from or by its characteristics: Pigmented variant from MELANIN-containing DERMAL DENDRITIC CELLS; Myxoid variant, myxoid STROMAL CELLS; Giant cell variant characterized by GIANT CELLS in the tumors; and Fibrosarcomatous variant chracterized by tumor areas histologically indistinguishable from FIBROSARCOMA."
+BMGC_DS04060,BMG_DS005955,"MeSH: An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed)"
+BMGC_DS04061,BMG_DS005956,MONDO: A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. | MeSH: A sarcoma of young adults occurring in the lower extremities and acral regions. It is found intimately bound to tendons as a circumscribed but unencapsulated melanin-bearing tumor of neuroectodermal origin. Clear cell sarcoma is associated with a specific t(12;22)(q13;q12) translocation.
+BMGC_DS04062,BMG_DS005957,"MONDO: A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. | MeSH: A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (From Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS04063,BMG_DS005958,"MONDO: A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels. | MeSH: A benign tumor consisting of vascular and smooth muscle elements."
+BMGC_DS04064,BMG_DS005959,"MONDO: A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. | MeSH: The state of having multiple leiomyomas throughout the body. (Stedman, 25th ed)"
+BMGC_DS04065,BMG_DS005960,"MONDO: A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. | MeSH: A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. Alveolar refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)"
+BMGC_DS04066,BMG_DS005961,"MONDO: A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. | MeSH: A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)"
+BMGC_DS04067,BMG_DS005962,"MONDO: An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh. | MeSH: A variety of rare sarcoma having a reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. It is a rare tumor, usually occurring between 15 and 35 years of age. It appears in the muscles of the extremities in adults and most commonly in the head and neck regions of children. Though slow-growing, it commonly metastasizes to the lungs, brain, bones, and lymph nodes. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1365)"
+BMGC_DS04068,BMG_DS005963,"MONDO: A benign or malignant myomatous neoplasm arising from smooth muscle. | MeSH: A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle."
+BMGC_DS04069,BMG_DS005964,"MONDO: A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum). | MeSH: A highly malignant, primitive form of carcinoma, probably of germinal cell or teratomatous derivation, usually arising in a gonad and rarely in other sites. It is rare in the female ovary, but in the male it accounts for 20% of all testicular tumors. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, p1595)"
+BMGC_DS04070,BMG_DS005965,"MONDO: A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes. | MeSH: A malignant neoplasm of the germinal tissue of the GONADS; MEDIASTINUM; or pineal region. Germinomas are uniform in appearance, consisting of large, round cells with vesicular nuclei and clear or finely granular eosinophilic-staining cytoplasm. (Stedman, 265th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1642-3)"
+BMGC_DS04071,BMG_DS005967,"MONDO: A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors. | MeSH: A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)"
+BMGC_DS04072,BMG_DS005968,"MONDO: A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component. | MeSH: A malignant neoplasm consisting of elements of teratoma with those of embryonal carcinoma or choriocarcinoma, or both. It occurs most often in the testis. (Dorland, 27th ed)"
+BMGC_DS04073,BMG_DS005969,"MONDO: Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. | MeSH: An uncommon variant of CHORIOCARCINOMA. It is composed almost entirely of mononuclear cytotrophoblasts (TROPHOBLASTS). Because its secretion of hCG (CHORIONIC GONADOTROPIN) is low, a large tumor may develop before the hCG can be detected."
+BMGC_DS04074,BMG_DS005970,"MONDO: A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.)"
+BMGC_DS04075,BMG_DS005971,"MONDO: A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. | MeSH: A benign epithelial tumor of the LIVER."
+BMGC_DS04076,BMG_DS005972,"NCI: A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative. | MONDO: A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors."
+BMGC_DS04077,BMG_DS005973,"MONDO: A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative. | MeSH: A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)"
+BMGC_DS04078,BMG_DS005974,"MONDO: A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis. | MeSH: A benign tumor of the sweat glands which is usually multiple and results from malformation of sweat ducts. It is uncommon and more common in females than in males. It is most likely to appear at adolescence, and further lesions may develop during adult life. It does not appear to be hereditary. (Rook et al., Textbook of Dermatology, 4th ed, pp2407-8)"
+BMGC_DS04079,BMG_DS005975,"MONDO: An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina. | MeSH: An adenoma of the large intestine. It is usually a solitary, sessile, often large, tumor of colonic mucosa composed of mucinous epithelium covering delicate vascular projections. Hypersecretion and malignant changes occur frequently. (Stedman, 25th ed)"
+BMGC_DS04080,BMG_DS005976,"MONDO: A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis. | MeSH: A small, circumscribed, benign tumor of the genital tract, composed of small glandlike spaces lined by flattened or cuboidal mesothelium-like cells. (From Dorland, 27th ed)"
+BMGC_DS04081,BMG_DS005977,"MONDO: A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. | MeSH: An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)"
+BMGC_DS04082,BMG_DS005978,"MONDO: A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. | MeSH: An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)"
+BMGC_DS04083,BMG_DS005980,"MONDO: An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. | MeSH: A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)"
+BMGC_DS04084,BMG_DS005981,"MONDO: A carcinoma that arises from epithelial cells of the acinar cell | MeSH: A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)"
+BMGC_DS04085,BMG_DS005982,"MONDO: A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival."
+BMGC_DS04086,BMG_DS005983,MeSH: An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.
+BMGC_DS04087,BMG_DS005984,"MONDO: An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal. | MeSH: A type of BREAST CANCER where the abnormal malignant cells form in the lobules, or milk-producing glands, of the breast."
+BMGC_DS04088,BMG_DS005985,"MONDO: A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade. | MeSH: A tumor of both low- and high-grade malignancy. The low-grade grow slowly, appear in any age group, and are readily cured by excision. The high-grade behave aggressively, widely infiltrate the salivary gland and produce lymph node and distant metastases. Mucoepidermoid carcinomas account for about 21% of the malignant tumors of the parotid gland and 10% of the sublingual gland. They are the most common malignant tumor of the parotid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575; Holland et al., Cancer Medicine, 3d ed, p1240)"
+BMGC_DS04089,BMG_DS005986,"MONDO: A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma. | MeSH: A group of carcinomas which share a characteristic morphology, often being composed of clusters and trabecular sheets of round blue cells, granular chromatin, and an attenuated rim of poorly demarcated cytoplasm. Neuroendocrine tumors include carcinoids, small (oat) cell carcinomas, medullary carcinoma of the thyroid, Merkel cell tumor, cutaneous neuroendocrine carcinoma, pancreatic islet cell tumors, and pheochromocytoma. Neurosecretory granules are found within the tumor cells. (Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS04090,BMG_DS005987,"MONDO: A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland. | MeSH: A poorly differentiated adenocarcinoma in which the nucleus is pressed to one side by a cytoplasmic droplet of mucus. It usually arises in the gastrointestinal system."
+BMGC_DS04091,BMG_DS005989,"MONDO: A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. | MeSH: A malignant tumor arising from the epithelium of the BILE DUCTS."
+BMGC_DS04092,BMG_DS005990,"MONDO: An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. | MeSH: A malignant cystic or semisolid tumor most often occurring in the ovary. Rarely, one is solid. This tumor may develop from a mucinous cystadenoma, or it may be malignant at the onset. The cysts are lined with tall columnar epithelial cells; in others, the epithelium consists of many layers of cells that have lost normal structure entirely. In the more undifferentiated tumors, one may see sheets and nests of tumor cells that have very little resemblance to the parent structure. (Hughes, Obstetric-Gynecologic Terminology, 1972, p184)"
+BMGC_DS04093,BMG_DS005991,MONDO: A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. | MeSH: An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface.
+BMGC_DS04094,BMG_DS005992,"MONDO: A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures. | MeSH: A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)"
+BMGC_DS04095,BMG_DS005993,"MONDO: A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts."
+BMGC_DS04096,BMG_DS005994,"MeSH: An epithelial neoplasm characterized by unusually large anaplastic cells. It is highly malignant with fulminant clinical course, bizarre histologic appearance and poor prognosis. It is most common in the lung and thyroid. (From Stedman, 25th ed & Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS04097,BMG_DS005995,"MONDO: A malignant epithelial neoplasm composed of large, atypical cells. | MeSH: A tumor of undifferentiated (anaplastic) cells of large size. It is usually bronchogenic. (From Dorland, 27th ed)"
+BMGC_DS04098,BMG_DS005996,"MONDO: A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot. | MeSH: A variant of well-differentiated epidermoid carcinoma that is most common in the oral cavity, but also occurs in the larynx, nasal cavity, esophagus, penis, anorectal region, vulva, vagina, uterine cervix, and skin, especially on the sole of the foot. Most intraoral cases occur in elderly male abusers of smokeless tobacco. The treatment is surgical resection. Radiotherapy is not indicated, as up to 30% treated with radiation become highly aggressive within six months. (Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS04099,BMG_DS005999,"MONDO: A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas. | MeSH: Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale."
+BMGC_DS04100,BMG_DS006000,"MONDO: Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome. | MeSH: A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)"
+BMGC_DS04101,BMG_DS006001,"MONDO: An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma. | MeSH: A small, often impalpable benign papilloma arising in a lactiferous duct and frequently causing bleeding from the nipple. (Stedman, 25th ed)"
+BMGC_DS04102,BMG_DS006003,"MONDO: A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO) | MeSH: Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord."
+BMGC_DS04103,BMG_DS006004,"MONDO: A rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases."
+BMGC_DS04104,BMG_DS006005,"MONDO: A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. | MeSH: A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea."
+BMGC_DS04105,BMG_DS006006,"ORPHANET: Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good. | MONDO: Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good."
+BMGC_DS04106,BMG_DS006007,MONDO: A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example. | MeSH: Neoplasms of the SQUAMOUS EPITHELIAL CELLS. The concept does not refer to neoplasms located in tissue composed of squamous elements.
+BMGC_DS04107,BMG_DS006008,"MONDO: An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses. | MeSH: A mucosal tumor of the urinary bladder or nasal cavity in which proliferating epithelium is invaginated beneath the surface and is more smoothly rounded than in other papillomas. (Stedman, 25th ed)"
+BMGC_DS04108,BMG_DS006010,"MONDO: A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens. | MeSH: A sex cord-gonadal stromal tumor consists of LEYDIG CELLS; SERTOLI CELLS; and FIBROBLASTS in varying proportions and degree of differentiation. Most such tumors produce ANDROGENS in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the TESTIS or the OVARY causing precocious masculinization in the males, and defeminization, or virilization (VIRILISM) in the females. In some cases, the Sertoli cells produce ESTROGENS."
+BMGC_DS04109,BMG_DS006011,MONDO: A neoplasm involving a sex cord.
+BMGC_DS04110,BMG_DS006012,"MONDO: Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma. | MeSH: Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)"
+BMGC_DS04111,BMG_DS006013,"MONDO: A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO). | MeSH: Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are highly aggressive and present primarily in adults as rapidly expanding mass lesions. They may arise in tissue that has been previously irradiated. (From Br J Neurosurg 1995 Apr;9(2):171-8)"
+BMGC_DS04112,BMG_DS006014,"MONDO: A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor."
+BMGC_DS04113,BMG_DS006015,"MONDO: An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.) | MeSH: A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)"
+BMGC_DS04114,BMG_DS006016,"MONDO: A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72) | MeSH: A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)"
+BMGC_DS04115,BMG_DS006018,"MONDO: A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. | MeSH: A dull red, firm, dome-shaped hemangioma, sharply demarcated from surrounding skin, usually located on the head and neck, which grows rapidly and generally undergoes regression and involution without scarring. It is caused by proliferation of immature capillary vessels in active stroma, and is usually present at birth or occurs within the first two or three months of life. (Dorland, 27th ed)"
+BMGC_DS04116,BMG_DS006019,"MONDO: Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. | MeSH: A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)"
+BMGC_DS04117,BMG_DS006020,"MONDO: A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. | MeSH: An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS04118,BMG_DS006021,"MONDO: An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative. | MeSH: Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP."
+BMGC_DS04119,BMG_DS006024,"MONDO: A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis. | MeSH: A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)"
+BMGC_DS04120,BMG_DS006025,"MONDO: An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. | MeSH: A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles RHABDOMYOSARCOMA but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210)"
+BMGC_DS04121,BMG_DS006026,"MONDO: A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections. | MeSH: Reproducible depletion of CD4+ lymphocytes below 300 per cubic millimeter in the absence of HIV infection or other known causes of immunodeficiency. This is a rare, heterogeneous syndrome and does not appear to be caused by a transmissible agent."
+BMGC_DS04122,BMG_DS006028,"MONDO: Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). | MeSH: Virus diseases caused by the CORONAVIRUS genus. Some specifics include transmissible enteritis of turkeys (ENTERITIS, TRANSMISSIBLE, OF TURKEYS); FELINE INFECTIOUS PERITONITIS; and transmissible gastroenteritis of swine (GASTROENTERITIS, TRANSMISSIBLE, OF SWINE)."
+BMGC_DS04123,BMG_DS006032,"MONDO: Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion). | MeSH: Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition."
+BMGC_DS04124,BMG_DS006033,MeSH: Congenital structural deformities of the upper and lower extremities collectively or unspecified.
+BMGC_DS04125,BMG_DS006036,"NCI: A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. | MONDO: A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma."
+BMGC_DS04126,BMG_DS006038,"NCI: A benign or malignant, primary or metastatic neoplasm of the brain occurring in adults."
+BMGC_DS04127,BMG_DS006039,"HPO: A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). [https://orcid.org/0000-0002-0736-9199] | MONDO: A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B."
+BMGC_DS04128,BMG_DS006040,"MONDO: A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma."
+BMGC_DS04129,BMG_DS006041,"MONDO: A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas."
+BMGC_DS04130,BMG_DS006045,"NCI: An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes. | MONDO: Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. | MeSH: Congenital craniostenosis with syndactyly."
+BMGC_DS04131,BMG_DS006046,"MONDO: Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay."
+BMGC_DS04132,BMG_DS006047,"MONDO: A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced."
+BMGC_DS04133,BMG_DS006048,SNOMEDCT_US: An autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.
+BMGC_DS04134,BMG_DS006049,"MONDO: Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II)."
+BMGC_DS04135,BMG_DS006050,HPO: This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [https://orcid.org/0000-0002-0736-9199] | MONDO: A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.
+BMGC_DS04136,BMG_DS006051,"SNOMEDCT_US: Distal arthrogryposis type 3 is an autosomal dominant non-progressive myopathy with contractures of the hands, ankle and feet along with cleft palate and short stature. | MONDO: An extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition."
+BMGC_DS04137,BMG_DS006052,"NCI: An autosomal dominant connective tissue disorder caused by mutation(s) in the FBN2 gene, encoding fibrillin-2. It is characterized by contractures, arachnodactyly, scoliosis, micrognathia, and crumpled ears. | MONDO: Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia."
+BMGC_DS04138,BMG_DS006053,ORPHANET: Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. | MONDO: A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.
+BMGC_DS04139,BMG_DS006055,"SNOMEDCT_US: A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. | MONDO: Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. | MeSH: Mandibulofacial dysostosis with congenital eyelid dermoids."
+BMGC_DS04140,BMG_DS006056,"ORPHANET: A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. | MONDO: Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage."
+BMGC_DS04141,BMG_DS006057,"SNOMEDCT_US: A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease. | MONDO: Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures."
+BMGC_DS04142,BMG_DS006058,"MONDO: KBG syndrome is a rare condition characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay."
+BMGC_DS04143,BMG_DS006059,
+BMGC_DS04144,BMG_DS006060,"SNOMEDCT_US: A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Affected individuals typically have an unusually flat, underdeveloped midface, with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases. The pathogenesis remains uncertain, most reported cases were sporadic. | MONDO: A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex."
+BMGC_DS04145,BMG_DS006061,MONDO: Autosomal dominant form of microcephaly (disease).
+BMGC_DS04146,BMG_DS006063,HPO: A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04147,BMG_DS006064,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene.
+BMGC_DS04148,BMG_DS006065,MONDO: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35.
+BMGC_DS04149,BMG_DS006066,MONDO: A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
+BMGC_DS04150,BMG_DS006067,
+BMGC_DS04151,BMG_DS006068,"NCI: A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy. | MONDO: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention."
+BMGC_DS04152,BMG_DS006069,"NCI: A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. | MONDO: A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy."
+BMGC_DS04153,BMG_DS006070,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.
+BMGC_DS04154,BMG_DS006071,"NCI: An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. | MONDO: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene."
+BMGC_DS04155,BMG_DS006072,
+BMGC_DS04156,BMG_DS006073,"MONDO: A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies."
+BMGC_DS04157,BMG_DS006074,"NCI: An autosomal recessive condition caused by mutation(s) in the SLC26A2 gene, encoding sulfate transporter. It is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the ""hitchhiker"" thumb, resulting from deformity of the first metacarpal. | MONDO: Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)."
+BMGC_DS04158,BMG_DS006075,"NCI: A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations. | MONDO: Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations."
+BMGC_DS04159,BMG_DS006077,"MONDO: Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia."
+BMGC_DS04160,BMG_DS006078,"ORPHANET: A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait."
+BMGC_DS04161,BMG_DS006079,"ORPHANET: Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. | MONDO: A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns."
+BMGC_DS04162,BMG_DS006080,"NCI: A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of fine sparse hair, and T-and B-cell immunodeficiency. | MONDO: Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth."
+BMGC_DS04163,BMG_DS006082,"NCI: A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia. | MONDO: A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. | MeSH: The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN."
+BMGC_DS04164,BMG_DS006083,"MONDO: NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. | MeSH: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes  a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry. | MeSH: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry."
+BMGC_DS04165,BMG_DS006084,"ORPHANET: Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs."
+BMGC_DS04166,BMG_DS006085,
+BMGC_DS04167,BMG_DS006086,"MONDO: An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism."
+BMGC_DS04168,BMG_DS006087,"MONDO: FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential."
+BMGC_DS04169,BMG_DS006088,
+BMGC_DS04170,BMG_DS006091,"NCI: Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock."
+BMGC_DS04171,BMG_DS006092,"MeSH: A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE)."
+BMGC_DS04172,BMG_DS006093,"NCI: An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. | MONDO: An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine."
+BMGC_DS04173,BMG_DS006094,HPO: An increased concentration of xanthine in the urine. [HPO_CONTRIBUTOR:gcarletti] | MONDO: A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.
+BMGC_DS04174,BMG_DS006095,"NCI: Partial lipodystrophy, the cause of which is not present at birth. Examples include lipodystrophy associated with human immunodeficiency virus (HIV) therapy, and Barraquer-Simons syndrome, associated with C3 nephritic factor. | MONDO: A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs."
+BMGC_DS04175,BMG_DS006096,"ORPHANET: A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. | MONDO: Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. | MeSH: Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood."
+BMGC_DS04176,BMG_DS006097,"MONDO: Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions."
+BMGC_DS04177,BMG_DS006098,"HPO: An elevated urinary concentration of cystathionine. [https://orcid.org/0000-0002-0736-9199] | MONDO: Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases."
+BMGC_DS04178,BMG_DS006099,MeSH: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
+BMGC_DS04179,BMG_DS006101,"HPO: A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. [https://orcid.org/0000-0002-0736-9199, PMID:18731015] | MONDO: Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone."
+BMGC_DS04180,BMG_DS006102,"NCI: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. | MONDO: Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. | MeSH: A condition of abnormally elevated output of PARATHYROID HORMONE due to parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. It is characterized by the combination of HYPERCALCEMIA, phosphaturia, elevated renal 1,25-DIHYDROXYVITAMIN D3 synthesis, and increased BONE RESORPTION."
+BMGC_DS04181,BMG_DS006103,"NCI: A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. | MONDO: A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features."
+BMGC_DS04182,BMG_DS006106,"MONDO: Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal. | MeSH: Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the involved organ systems. The etiology and pathophysiology are unknown."
+BMGC_DS04183,BMG_DS006108,"MONDO: Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement."
+BMGC_DS04184,BMG_DS006112,NCI: A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene.
+BMGC_DS04185,BMG_DS006113,ORPHANET: Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia. | MONDO: Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.
+BMGC_DS04186,BMG_DS006116,HPO: Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). [https://rarediseases.info.nih.gov/diseases/6229/cyclic-neutropenia] | MONDO: A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.
+BMGC_DS04187,BMG_DS006117,"MONDO: Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. | MeSH: Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA."
+BMGC_DS04188,BMG_DS006118,"ORPHANET: A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy. | MONDO: X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy."
+BMGC_DS04189,BMG_DS006122,"MONDO: An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues."
+BMGC_DS04190,BMG_DS006125,"MONDO: Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure."
+BMGC_DS04191,BMG_DS006130,"MONDO: A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone. | MeSH: Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT."
+BMGC_DS04192,BMG_DS006131,"NCI: Heart failure characterized by elevated cardiac output, low systemic vascular resistance and low arterial-venous oxygen content difference. | MONDO: High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal."
+BMGC_DS04193,BMG_DS006132,"HPO: An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion. [https://orcid.org/0000-0002-0736-9199] | MeSH: A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)"
+BMGC_DS04194,BMG_DS006135,"ORPHANET: A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea. | MONDO: Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea."
+BMGC_DS04195,BMG_DS006137,"ORPHANET: A rare distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. | MONDO: Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. | MeSH: A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive."
+BMGC_DS04196,BMG_DS006138,"NCI: An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by muscle stiffness, which is increased by exposure to cold or activity, and usually eases when the patient warms up through physical activity. | MONDO: Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)."
+BMGC_DS04197,BMG_DS006142,
+BMGC_DS04198,BMG_DS006143,"MONDO: Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies. | MeSH: A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)"
+BMGC_DS04199,BMG_DS006144,"MONDO: A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient."
+BMGC_DS04200,BMG_DS006145,MeSH: A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA.
+BMGC_DS04201,BMG_DS006146,"MONDO: Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) | MeSH: Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)"
+BMGC_DS04202,BMG_DS006147,"MONDO: A type of clinical depression that occurs after childbirth. | MeSH: Depression in POSTPARTUM WOMEN, usually within four weeks after giving birth (PARTURITION). The degree of depression ranges from mild transient depression to neurotic or psychotic depressive disorders. (From DSM-IV, p386)"
+BMGC_DS04203,BMG_DS006151,NCI: Hypertension that presents intermittently.
+BMGC_DS04204,BMG_DS006153,"NCI: An electrocardiographic finding of a supraventricular arrhythmia characterized by 3 or more distinct P wave morphologies with an isoelectric baseline, variable PR intervals and no predominant atrial rhythm. The ventricular rate is typically 100-150 beats per minute. (CDISC) | MONDO: Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic."
+BMGC_DS04205,BMG_DS006154,MeSH: Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age. (from DSM-5)
+BMGC_DS04206,BMG_DS006157,"HPO: Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. [https://orcid.org/0009-0006-4530-3154] | MeSH: Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS04207,BMG_DS006159,NCI: A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. | MONDO: A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.
+BMGC_DS04208,BMG_DS006163,"HPO: A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. [https://orcid.org/0000-0002-0104-692X, PMID:18195376, PMID:4014865, PMID:7976869] | MeSH: Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions."
+BMGC_DS04209,BMG_DS006168,"NCI: Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts. | MONDO: Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts."
+BMGC_DS04210,BMG_DS006169,"NCI: A focal inflammation of glomeruli secondary to mesangial cell proliferation and matrix deposition within the mesangium. | MONDO: Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure."
+BMGC_DS04211,BMG_DS006170,"NCI: Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. | MONDO: Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus."
+BMGC_DS04212,BMG_DS006173,MeSH: Excessive shedding of dry scaly material from the scalp in humans.
+BMGC_DS04213,BMG_DS006176,MeSH: A disease of the eye in which the eyelashes abnormally turn inwards toward the eyeball producing constant irritation caused by motion of the lids.
+BMGC_DS04214,BMG_DS006177,NCI: Deformity or discoloration of a fingernail or toenail.
+BMGC_DS04215,BMG_DS006178,HPO: Circumscribed depigmentation of the hair of the head or the eyelashes. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04216,BMG_DS006182,"ORPHANET: A rare acquired dermis elastic tissue disorder with increased elastic tissue characterized by focal dermal elastosis and transepidermal elimination of abnormal elastic fibers, presenting as small keratotic papules or plaques arranged in groups in serpiginous or annular patterns on the neck, face, and arms, while other areas are less frequently affected. Although spontaneous regression is possible, the lesions often persist over longer periods of time. The condition typically occurs during childhood or early adulthood and is more frequent in men than in women."
+BMGC_DS04217,BMG_DS006184,
+BMGC_DS04218,BMG_DS006185,"NCI: A rare, slow-growing, usually non-invasive intraepithelial adenocarcinoma affecting the penile skin or mucosal surface. The malignant cells are large with abundant pale cytoplasm and vesicular nuclei with prominent nucleoli. (WHO 2016) | MONDO: A premalignant condition morphologically characterized by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003"
+BMGC_DS04219,BMG_DS006187,NCI: A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. | MONDO: A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.
+BMGC_DS04220,BMG_DS006188,"ORPHANET: A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence. | MONDO: An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain."
+BMGC_DS04221,BMG_DS006190,"MONDO: A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. | MeSH: A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymphatic network may play a role in its etiology. Occasionally inherited, yellow nail syndrome mostly is sporadic without apparent family history."
+BMGC_DS04222,BMG_DS006191,"MONDO: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome). | MeSH: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME)."
+BMGC_DS04223,BMG_DS006192,"MONDO: A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. | MeSH: Congenital anomaly of abnormally short fingers or toes."
+BMGC_DS04224,BMG_DS006193,"HPO: Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. [PMID:19152422] | MONDO: Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated."
+BMGC_DS04225,BMG_DS006204,"MONDO: Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia). | MeSH: Formation of a non-infectious THROMBUS, referred to as vegetation, on previously undamaged ENDOCARDIUM. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see THROMBOPHILIA)."
+BMGC_DS04226,BMG_DS006206,MeSH: Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at MENOPAUSE.
+BMGC_DS04227,BMG_DS006209,
+BMGC_DS04228,BMG_DS006210,MONDO: Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.
+BMGC_DS04229,BMG_DS006213,
+BMGC_DS04230,BMG_DS006215,"MONDO: Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. | MeSH: Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS."
+BMGC_DS04231,BMG_DS006216,"MONDO: An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm. | MeSH: A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)"
+BMGC_DS04232,BMG_DS006221,NCI: Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. | MONDO: Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy.
+BMGC_DS04233,BMG_DS006222,"MONDO: Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. | MeSH: A common gynecologic disorder characterized by an abnormal, nonbloody discharge from the genital tract."
+BMGC_DS04234,BMG_DS006230,"MONDO: Changes in the organism associated with senescence, occurring at an accelerated rate. | MeSH: Changes in the organism associated with senescence, occurring at an accelerated rate."
+BMGC_DS04235,BMG_DS006270,
+BMGC_DS04236,BMG_DS006298,NCI: Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
+BMGC_DS04237,BMG_DS006299,"NCI: The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal."
+BMGC_DS04238,BMG_DS006304,MONDO: Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene.
+BMGC_DS04239,BMG_DS006325,"NCI: An overwhelming, irrational, and persistent fear of animals. | MONDO: An overwhelming, irrational, and persistent fear of animals."
+BMGC_DS04240,BMG_DS006327,"MONDO: Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)"
+BMGC_DS04241,BMG_DS006342,MONDO: A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia | MeSH: A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
+BMGC_DS04242,BMG_DS006346,MeSH: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
+BMGC_DS04243,BMG_DS006347,MeSH: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
+BMGC_DS04244,BMG_DS006355,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04245,BMG_DS006356,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04246,BMG_DS006357,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04247,BMG_DS006358,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04248,BMG_DS006360,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04249,BMG_DS006361,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04250,BMG_DS006362,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04251,BMG_DS006363,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04252,BMG_DS006364,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04253,BMG_DS006367,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS04254,BMG_DS006370,"MeSH: Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen."
+BMGC_DS04255,BMG_DS006371,"MeSH: Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen."
+BMGC_DS04256,BMG_DS006381,NCI: A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. | MONDO: A disease involving the visual cortex.
+BMGC_DS04257,BMG_DS006395,"MONDO: Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury. | MeSH: The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition. (From Cortex 1995 Jun;31(2):317-29)."
+BMGC_DS04258,BMG_DS006396,"MONDO: A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)"
+BMGC_DS04259,BMG_DS006397,
+BMGC_DS04260,BMG_DS006399,"NCI: A convulsion marked by alternating contracting and relaxing of the muscles. | MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS04261,BMG_DS006419,"MeSH: An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)"
+BMGC_DS04262,BMG_DS006420,"NCI: Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids). | MONDO: Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids)."
+BMGC_DS04263,BMG_DS006421,
+BMGC_DS04264,BMG_DS006426,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS04265,BMG_DS006427,MONDO: A epilepsy that involves the primary motor cortex.
+BMGC_DS04266,BMG_DS006429,NCI: Inflammation or degeneration of the peripheral motor nerves. | MONDO: Inflammation of the peripheral motor nerves.
+BMGC_DS04267,BMG_DS006430,MeSH: A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA.
+BMGC_DS04268,BMG_DS006431,
+BMGC_DS04269,BMG_DS006435,"MONDO: Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation."
+BMGC_DS04270,BMG_DS006436,NCI: Any disorder of the cornea. | MONDO: Any disorder of the cornea.
+BMGC_DS04271,BMG_DS006445,NCI: Hepatitis that is characterized by the presence of granulomas. | MONDO: Hepatitis that is characterized by the presence of granulomas.
+BMGC_DS04272,BMG_DS006447,"HPO: An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. [PMID:27036365] | MeSH: A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE)."
+BMGC_DS04273,BMG_DS006451,NCI: A disorder characterized by an electrocardiographic finding of episodic atrial fibrillation with abrupt onset and termination. | MONDO: An atrial fibrillation disorder characterized by intermittent atrial fibrillation that lasts less than seven days from onset.
+BMGC_DS04274,BMG_DS006453,NCI: Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries. | MONDO: Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries.
+BMGC_DS04275,BMG_DS006458,"NCI: Failure of proper functioning of the right ventricle, with venous engorgement, hepatic enlargement, and subcutaneous edema. | MeSH: A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION."
+BMGC_DS04276,BMG_DS006463,NCI: Inflammation of the submandibular lymph nodes. | MONDO: Inflammation of the submandibular lymph nodes.
+BMGC_DS04277,BMG_DS006464,HPO: Enlarged lymph nodes in the neck. []
+BMGC_DS04278,BMG_DS006466,
+BMGC_DS04279,BMG_DS006467,"NCI: A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. | MONDO: A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis."
+BMGC_DS04280,BMG_DS006471,"NCI: A rare benign neoplasm that arises from the urinary tract and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium. | MONDO: A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium."
+BMGC_DS04281,BMG_DS006473,NCI: A cystic cancerous tumor arising from the ovary. | MONDO: A cystic cancerous tumor arising from the ovary.
+BMGC_DS04282,BMG_DS006474,MONDO: A carcinoma that arises from epithelial cells of the gall bladder
+BMGC_DS04283,BMG_DS006476,NCI: Leukemia that occurs during the neonatal period. | MONDO: Leukemia that occurs during the neonatal period.
+BMGC_DS04284,BMG_DS006477,
+BMGC_DS04285,BMG_DS006478,"NCI: Abnormal functioning of the central nervous system in the newborn period that may be due to a variety of etiologies including hypoxia/ischemia, metabolic disturbance, or infection."
+BMGC_DS04286,BMG_DS006479,"NCI: Diaphragmatic hernia that is present at birth. | MONDO: A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality."
+BMGC_DS04287,BMG_DS006481,
+BMGC_DS04288,BMG_DS006485,"ORPHANET: Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. | MONDO: Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes."
+BMGC_DS04289,BMG_DS006486,"MONDO: Neuritis of a single nerve. | MeSH: Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ISCHEMIA; traumatic injury; compression; CONNECTIVE TISSUE DISEASES; CUMULATIVE TRAUMA DISORDERS; and other conditions."
+BMGC_DS04290,BMG_DS006493,NCI: Atrophy of the cerebrum caused by focal or generalized neuronal loss.
+BMGC_DS04291,BMG_DS006494,NCI: A genetic or acquired metabolic disorder that is associated with zinc deficiency in the tissues.
+BMGC_DS04292,BMG_DS006495,
+BMGC_DS04293,BMG_DS006498,NCI: A carcinoma arising from the exocrine pancreas. The overwhelming majority of pancreatic carcinomas are adenocarcinomas. | MONDO: A carcinoma that arises from epithelial cells of the exocrine pancreas
+BMGC_DS04294,BMG_DS006503,"MONDO: Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication)."
+BMGC_DS04295,BMG_DS006505,
+BMGC_DS04296,BMG_DS006506,"NCI: A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps). | MONDO: A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps)."
+BMGC_DS04297,BMG_DS006512,
+BMGC_DS04298,BMG_DS006514,"MONDO: A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. | MeSH: A rare form of DEMENTIA that is sometimes familial. Clinical features include APHASIA; APRAXIA; CONFUSION; ANOMIA; memory loss; and personality deterioration. This pattern is consistent with the pathologic findings of circumscribed atrophy of the poles of the FRONTAL LOBE and TEMPORAL LOBE. Neuronal loss is maximal in the HIPPOCAMPUS, entorhinal cortex, and AMYGDALA. Some ballooned cortical neurons contain argentophylic (Pick) bodies. (From Brain Pathol 1998 Apr;8(2):339-54; Adams et al., Principles of Neurology, 6th ed, pp1057-9)"
+BMGC_DS04299,BMG_DS006516,
+BMGC_DS04300,BMG_DS006517,MONDO: Disorders related to or resulting from abuse or mis-use of alcohol. | MeSH: Disorders related to or resulting from abuse or misuse of alcohol.
+BMGC_DS04301,BMG_DS006519,"MeSH: Use of marijuana associated with abnormal psychological, social, and or occupational functioning."
+BMGC_DS04302,BMG_DS006520,
+BMGC_DS04303,BMG_DS006521,
+BMGC_DS04304,BMG_DS006522,"NCI: A bipolar disorder in which at least one episode of major depression alternates with at least one episode of hypomania. In contrast to bipolar I disorder, affected individuals do not experience any manic episodes. | MONDO: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes."
+BMGC_DS04305,BMG_DS006523,"NCI: A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism. | MONDO: A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia."
+BMGC_DS04306,BMG_DS006524,"MONDO: A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism."
+BMGC_DS04307,BMG_DS006526,"NCI: A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition. | MONDO: A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition."
+BMGC_DS04308,BMG_DS006528,"NCI: An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. | MONDO: An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable."
+BMGC_DS04309,BMG_DS006531,MeSH: Disruptions of the rhythmic cycle of bodily functions or activities.
+BMGC_DS04310,BMG_DS006533,"NCI: A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). | MONDO: A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)."
+BMGC_DS04311,BMG_DS006534,"NCI: A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). | MONDO: A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult)."
+BMGC_DS04312,BMG_DS006535,NCI: Evidence of neuroleptic induced parkinsonism.
+BMGC_DS04313,BMG_DS006542,"MONDO: A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs). | MeSH: Disorders related to substance use or abuse."
+BMGC_DS04314,BMG_DS006543,MONDO: Disorders stemming from the misuse and abuse of alcohol. | MeSH: Disorders stemming from the misuse and abuse of alcohol.
+BMGC_DS04315,BMG_DS006545,"HPO: An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. [] | MONDO: A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral."
+BMGC_DS04316,BMG_DS006547,"HPO: A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae. [PMID:16184417]"
+BMGC_DS04317,BMG_DS006551,MONDO: A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.
+BMGC_DS04318,BMG_DS006552,
+BMGC_DS04319,BMG_DS006554,"NCI: A malignant neoplasm arising from the glandular epithelium of the appendix with invasion of the appendiceal wall beyond the muscularis mucosa. The majority of cases are well differentiated adenocarcinomas with mucinous stroma formation. Clinically, it may present as an abdominal mass or with symptoms of acute appendicitis. Patients with chronic ulcerative colitis are at a higher risk in developing appendiceal adenocarcinomas compared to the general population. | MONDO: A carcinoma that arises from glandular epithelial cells of the vermiform appendix."
+BMGC_DS04320,BMG_DS006556,"MONDO: An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage."
+BMGC_DS04321,BMG_DS006558,"MONDO: A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60) | MeSH: A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)"
+BMGC_DS04322,BMG_DS006559,NCI: An adenocarcinoma that arises from the Bartholin gland. Subtypes include papillary and mucinous adenocarcinoma. | MONDO: A carcinoma that arises from glandular epithelial cells of the major vestibular gland.
+BMGC_DS04323,BMG_DS006560,NCI: A carcinoma that arises from the extrahepatic bile ducts. The majority are adenocarcinomas. | MONDO: A carcinoma that arises from epithelial cells of the extrahepatic bile duct.
+BMGC_DS04324,BMG_DS006561,"NCI: Botulism that is caused by contact with spores of Clostridial bacteria, which subsequently grow in the intestine and release toxin. | MONDO: A botulism that occurs between 28 days to one year of life.. | MeSH: A disease caused by potent protein NEUROTOXINS produced by CLOSTRIDIUM BOTULINUM which interfere with the presynaptic release of ACETYLCHOLINE at the NEUROMUSCULAR JUNCTION. Clinical features include abdominal pain, vomiting, acute PARALYSIS (including respiratory paralysis), blurred vision, and DIPLOPIA. Botulism may be classified into several subtypes (e.g., food-borne, infant, wound, and others). (From Adams et al., Principles of Neurology, 6th ed, p1208)"
+BMGC_DS04325,BMG_DS006562,NCI: A finding indicating the presence of an ependymal tumor in the brain. | MONDO: A tumor arising from the ependymal lining of the ventricles.
+BMGC_DS04326,BMG_DS006563,"SNOMEDCT_US: Phyllodes tumor of the breast is a rare fibroepithelial neoplasm accounting for less than 1% of all mammary tumors, usually presenting in adult females (most frequently between the ages of 35-55 years), ranging from benign to malignant and often presenting with well circumscribed mobile masses that grow rapidly and sometimes with additional non-specific symptoms such as dilated skin veins, nipple retraction, skin ulcers, palpable axillary lymphadenopathy or blue discoloration of the skin. | MONDO: A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component."
+BMGC_DS04327,BMG_DS006565,"NCI: A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by the presence of fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units. | MONDO: A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units."
+BMGC_DS04328,BMG_DS006567,HPO: Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04329,BMG_DS006570,"HPO: Inflammation of the blood vessels within the brain. [https://orcid.org/0000-0002-0736-9199] | MeSH: Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61)"
+BMGC_DS04330,BMG_DS006571,"MONDO: Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. | MeSH: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms."
+BMGC_DS04331,BMG_DS006572,"MeSH: Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS04332,BMG_DS006574,"ORPHANET: A rare and heterogeneous gastroenterological clinical syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine in absence of any mechanical occlusive lesion. Permanent alterations in neural, muscular, or mesenchymal structures of the intestinal wall or its extrinsic neural control, chronically impair tonic and propulsive motor functions in one or more segments of the gut. | MONDO: Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth."
+BMGC_DS04333,BMG_DS006575,"NCI: Biliary cirrhosis due to obstruction of the extrahepatic ducts. | MeSH: FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cholangitis involves the destruction of small intra-hepatic bile ducts and decreased bile secretion. Secondary biliary cholangitis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes."
+BMGC_DS04334,BMG_DS006576,"MONDO: A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. | MeSH: A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show larger-than-normal band of subepithelial COLLAGEN."
+BMGC_DS04335,BMG_DS006578,"MeSH: Circumscribed collections of suppurative material occurring in the spinal or intracranial EPIDURAL SPACE. The majority of epidural abscesses occur in the spinal canal and are associated with OSTEOMYELITIS of a vertebral body; ANALGESIA, EPIDURAL; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, URINARY INCONTINENCE, and FECAL INCONTINENCE. Cranial epidural abscesses are usually associated with OSTEOMYELITIS of a cranial bone, SINUSITIS, or OTITIS MEDIA. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)"
+BMGC_DS04336,BMG_DS006582,"NCI: An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge. | MONDO: An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge."
+BMGC_DS04337,BMG_DS006586,"NCI: A syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems. | MONDO: Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies."
+BMGC_DS04338,BMG_DS006590,"MONDO: The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones. | MeSH: The state of being a eunuch, a male without TESTES or whose testes failed to develop. It is characterized by the lack of mature male GERM CELLS and TESTICULAR HORMONES."
+BMGC_DS04339,BMG_DS006592,"HPO: Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. [https://orcid.org/0000-0002-0736-9199, NCIT:C3867] | MONDO: A carcinoma that arises from epithelial cells of the fallopian tube."
+BMGC_DS04340,BMG_DS006593,"MONDO: Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue. | MeSH: A fulminating bacterial infection of the deep layers of the skin and FASCIA. It can be caused by many different organisms, with STREPTOCOCCUS PYOGENES being the most common."
+BMGC_DS04341,BMG_DS006597,"NCI: Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. | MONDO: Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia."
+BMGC_DS04342,BMG_DS006599,HPO: A malignant soft tissue neoplasm that arises from the heart. [NCIT:C7723] | MONDO: A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas.
+BMGC_DS04343,BMG_DS006602,"ORPHANET: Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. | MONDO: Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation."
+BMGC_DS04344,BMG_DS006608,"MONDO: A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features. | MeSH: Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)"
+BMGC_DS04345,BMG_DS006609,"NCI: A carcinoma arising from the small intestine. The vast majority are adenocarcinomas. The remaining cases are adenosquamous, squamous, or undifferentiated carcinomas. | MONDO: A carcinoma that arises from epithelial cells of the small intestine"
+BMGC_DS04346,BMG_DS006610,"NCI: A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS04347,BMG_DS006611,"MONDO: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1."
+BMGC_DS04348,BMG_DS006612,NCI: A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. | MONDO: A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
+BMGC_DS04349,BMG_DS006616,NCI: A hemangioma arising from the liver. | MONDO: A hemangioma arising from the liver.
+BMGC_DS04350,BMG_DS006618,"ORPHANET: Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset."
+BMGC_DS04351,BMG_DS006619,"MONDO: Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism. | MeSH: A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well."
+BMGC_DS04352,BMG_DS006622,"NCI: A common stroke syndrome caused by infarction of the cerebral territories supplied by the middle cerebral artery (MCA). As the areas of the brain perfused by the MCA are extensive, symptoms vary widely but may be characterized by hemiparesis, hemianopia, hemineglect and aphasia. | MeSH: NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."
+BMGC_DS04353,BMG_DS006624,"NCI: An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities. | MONDO: A lysosomal storage disease characterized clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. | MeSH: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)"
+BMGC_DS04354,BMG_DS006625,"MONDO: An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. | MeSH: An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)"
+BMGC_DS04355,BMG_DS006626,"NCI: A life-threatening condition characterized by altered mental status and defective thermoregulation. It is seen in individuals with severe, decompensated hypothyroidism."
+BMGC_DS04356,BMG_DS006627,
+BMGC_DS04357,BMG_DS006630,NCI: Neuropathy that is caused by inadequate blood supply. | MONDO: Neuropathy that is caused by inadequate blood supply.
+BMGC_DS04358,BMG_DS006632,"NCI: A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma. | MONDO: A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma."
+BMGC_DS04359,BMG_DS006633,"NCI: A rare form of Paget disease that arises from the scrotum. It is usually not associated with an underlying malignancy. It presents as a red plaque or raised lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei. | MONDO: A mammary Paget's disease that involves the scrotum."
+BMGC_DS04360,BMG_DS006635,NCI: A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes. | MONDO: A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes.
+BMGC_DS04361,BMG_DS006636,"NCI: A disorder characterized by recurrent episodes of pancreatitis that start at a young age. It is caused by mutations in the PRSS1 or SPINK1 genes. Patients are at a high risk of developing pancreatic carcinoma. | MONDO: Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas."
+BMGC_DS04362,BMG_DS006638,"ORPHANET: A rare urogenital tumor characterized by origin from squamous epithelial cells of the penis, most commonly the glans or inner surface of the prepuce. Macroscopically, the tumors can appear either papillary or flat and ulcerating. Histological subtypes include usual squamous cell carcinoma as the most common type, as well as basaloid, warty, verrucous, papillary, and mixed carcinomas. Patients may initially be asymptomatic but present with itching, bleeding, discharge, foul odor, and pain, as the disease progresses. Regional lymph node involvement is common, while distant metastases occur only late in the disease. Risk factors include HPV infection, smoking, poor hygiene, and HIV infection. Neonatal circumcision is implicated as strongly protective. | MONDO: A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)"
+BMGC_DS04363,BMG_DS006641,"NCI: A malignant mesenchymal neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma. | MONDO: A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma."
+BMGC_DS04364,BMG_DS006643,MONDO: Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
+BMGC_DS04365,BMG_DS006644,MONDO: Hypokalemic periodic paralysis (hypoPP) is characterized by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.
+BMGC_DS04366,BMG_DS006650,NCI: Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities. | MONDO: Pneumoconiosis caused by exposure to talc. It is characterized by fibrosis and granulomatous changes in the lung parenchyma. Chest x-rays reveal diffuse lung opacities and pleural abnormalities.
+BMGC_DS04367,BMG_DS006651,"HPO: Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. [https://orcid.org/0000-0002-7371-8158, PMID:14338290, PMID:16728712, PMID:16738196, PMID:23728865, PMID:25657025] | MONDO: A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis."
+BMGC_DS04368,BMG_DS006652,"NCI: A rare malignant mesenchymal neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma. | MONDO: A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma."
+BMGC_DS04369,BMG_DS006653,"MONDO: Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. | MeSH: Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K."
+BMGC_DS04370,BMG_DS006655,NCI: Squamous cell carcinoma that affects the renal pelvis. | MONDO: A squamous cell carcinoma that involves the renal pelvis.
+BMGC_DS04371,BMG_DS006659,
+BMGC_DS04372,BMG_DS006660,
+BMGC_DS04373,BMG_DS006661,NCI: An ependymoma that arises from the spinal cord. It is characterized by the absence of MYCN gene amplification and frequent loss of chromosome 22q and mutations of NF2. | MONDO: An ependymoma that arises from the spinal cord.
+BMGC_DS04374,BMG_DS006662,"HPO: Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. [PMID:24007734, PMID:26540492] | MeSH: Circumscribed collections of suppurative material occurring in the spinal or intracranial EPIDURAL SPACE. The majority of epidural abscesses occur in the spinal canal and are associated with OSTEOMYELITIS of a vertebral body; ANALGESIA, EPIDURAL; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, URINARY INCONTINENCE, and FECAL INCONTINENCE. Cranial epidural abscesses are usually associated with OSTEOMYELITIS of a cranial bone, SINUSITIS, or OTITIS MEDIA. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)"
+BMGC_DS04375,BMG_DS006667,"MONDO: A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent."
+BMGC_DS04376,BMG_DS006668,MONDO: A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.
+BMGC_DS04377,BMG_DS006670,"MONDO: Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711) | MeSH: Formation or presence of a blood clot (THROMBUS) in the CAVERNOUS SINUS of the brain. Infections of the paranasal sinuses and adjacent structures, CRANIOCEREBRAL TRAUMA, and THROMBOPHILIA are associated conditions. Clinical manifestations include dysfunction of cranial nerves III, IV, V, and VI, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)"
+BMGC_DS04378,BMG_DS006672,"MONDO: A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. | MeSH: An aggressive THYROID GLAND malignancy which generally occurs in IODINE-deficient areas in people with previous thyroid pathology such as GOITER. It is associated with CELL DEDIFFERENTIATION of THYROID CARCINOMA (e.g., FOLLICULAR THYROID CARCINOMA; PAPILLARY THYROID CANCER). Typical initial presentation is a rapidly growing neck mass which upon metastasis is associated with DYSPHAGIA; NECK PAIN; bone pain; DYSPNEA; and NEUROLOGIC DEFICITS."
+BMGC_DS04379,BMG_DS006673,MONDO: A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.
+BMGC_DS04380,BMG_DS006674,"NCI: A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. | MONDO: A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance."
+BMGC_DS04381,BMG_DS006677,"NCI: An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. | MONDO: An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy."
+BMGC_DS04382,BMG_DS006678,HPO: The prolapse of the female urethra into the vagina. [https://orcid.org/0009-0006-4530-3154] | MONDO: Prolapse of the urethral mucosa from the exterior urethral opening.
+BMGC_DS04383,BMG_DS006679,NCI: A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction. | MONDO: Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.
+BMGC_DS04384,BMG_DS006681,"NCI: A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma. | MONDO: A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma."
+BMGC_DS04385,BMG_DS006682,"NCI: A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma. | MONDO: A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma."
+BMGC_DS04386,BMG_DS006683,
+BMGC_DS04387,BMG_DS006684,"ORPHANET: A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established."
+BMGC_DS04388,BMG_DS006685,HPO: An increased concentration of an amino acid in the urine. [https://orcid.org/0000-0002-5316-1399]
+BMGC_DS04389,BMG_DS006689,NCI: A hemangioma arising from the brain. | MONDO: A hemangioma arising from the brain.
+BMGC_DS04390,BMG_DS006695,HPO: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04391,BMG_DS006697,"HPO: Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. [PMID:30725953] | MONDO: Esophagitis resulting from Candida."
+BMGC_DS04392,BMG_DS006705,"MeSH: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue."
+BMGC_DS04393,BMG_DS006708,"NCI: A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. | MeSH: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate."
+BMGC_DS04394,BMG_DS006709,"HPO: The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. [https://orcid.org/0000-0002-0736-9199] | MeSH: Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules."
+BMGC_DS04395,BMG_DS006710,"MeSH: A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA)."
+BMGC_DS04396,BMG_DS006711,NCI: A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. | MONDO: A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.
+BMGC_DS04397,BMG_DS006714,"NCI: A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare. | MONDO: A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare."
+BMGC_DS04398,BMG_DS006718,"HPO: A form of nystagmus in which the eyeball makes rotary motions around the axis. [https://orcid.org/0000-0002-0736-9199] | MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS04399,BMG_DS006723,NCI: A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. | MONDO: A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.
+BMGC_DS04400,BMG_DS006725,"MONDO: Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex. | MeSH: Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ULCERS, peripheral GANGRENE, and MONONEURITIS MULTIPLEX."
+BMGC_DS04401,BMG_DS006726,"HPO: The presence of both a prominent heel and a convex contour of the sole. [https://orcid.org/0000-0002-0736-9199, PMID:19125433] | MONDO: Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus."
+BMGC_DS04402,BMG_DS006727,"HPO: Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. [https://orcid.org/0000-0002-0736-9199] | MONDO: Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction."
+BMGC_DS04403,BMG_DS006728,"HPO: An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS04404,BMG_DS006730,
+BMGC_DS04405,BMG_DS006737,
+BMGC_DS04406,BMG_DS006744,"NCI: A condition resulting in inadequate blood flow through the blood vessels supplying the brain, due to intrinsic disease of the vasculature. | MeSH: A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others."
+BMGC_DS04407,BMG_DS006750,
+BMGC_DS04408,BMG_DS006751,"MeSH: A chronic self-perpetuating hepatocellular INFLAMMATION of unknown cause, usually with HYPERGAMMAGLOBULINEMIA and serum AUTOANTIBODIES."
+BMGC_DS04409,BMG_DS006755,
+BMGC_DS04410,BMG_DS006758,"HPO: A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. [https://orcid.org/0000-0002-0736-9199] | MONDO: An angiomyolipoma arising from the kidney."
+BMGC_DS04411,BMG_DS006762,"HPO: A type of vulvar cancer that originates from melanocytes of the vulva. [https://orcid.org/0000-0002-0736-9199, PMID:8723827] | MONDO: A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria."
+BMGC_DS04412,BMG_DS006765,"MeSH: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)"
+BMGC_DS04413,BMG_DS006766,"MeSH: INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis."
+BMGC_DS04414,BMG_DS006770,
+BMGC_DS04415,BMG_DS006773,"MeSH: A type of ischemic stroke resulting from obstruction due to a BLOOD CLOT formed within in a CEREBRAL ARTERY often associated with ATHEROSCLEROSIS. A stroke due to a blood clot in a cerebral vein is a venous infarction (see VENOUS INFARCTION, BRAIN)."
+BMGC_DS04416,BMG_DS006778,"MONDO: Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. | MeSH: A spectrum of inflammation involving the female upper genital tract and the supporting tissues. It is usually caused by an ascending infection of organisms from the endocervix. Infection may be confined to the uterus (ENDOMETRITIS), the FALLOPIAN TUBES; (SALPINGITIS); the ovaries (OOPHORITIS), the supporting ligaments (PARAMETRITIS), or may involve several of the above uterine appendages. Such inflammation can lead to functional impairment and infertility."
+BMGC_DS04417,BMG_DS006779,"NCI: Jaundice occurring as a result of red blood cell rupture. | MeSH: A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction."
+BMGC_DS04418,BMG_DS006781,"MeSH: Presence of CALCIUM PYROPHOSPHATE in the connective tissues such as the cartilaginous structures of  joints. When accompanied by GOUT-like symptoms, it is referred to as pseudogout."
+BMGC_DS04419,BMG_DS006782,
+BMGC_DS04420,BMG_DS006783,MONDO: Narrowing of the coronary artery lumen diameter. | MeSH: Narrowing or constriction of a coronary artery.
+BMGC_DS04421,BMG_DS006785,"NCI: A syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity. It is caused by mutations within the GNAS genetic locus. | MONDO: McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP). | MeSH: FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome."
+BMGC_DS04422,BMG_DS006786,ORPHANET: A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). | MONDO: Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).
+BMGC_DS04423,BMG_DS006789,"NCI: A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides. | MeSH: Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL."
+BMGC_DS04424,BMG_DS006790,MeSH: The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY.
+BMGC_DS04425,BMG_DS006791,"NCI: An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset. | MONDO: An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset. | MeSH: Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions."
+BMGC_DS04426,BMG_DS006792,NCI: Insufficient production of all the anterior pituitary hormones. | MONDO: Insufficient production of all the anterior pituitary hormones.
+BMGC_DS04427,BMG_DS006793,MONDO: Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
+BMGC_DS04428,BMG_DS006794,"MeSH: Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES."
+BMGC_DS04429,BMG_DS006795,HPO: A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04430,BMG_DS006796,MONDO: A malignant neoplasm involving the lung.
+BMGC_DS04431,BMG_DS006797,"MONDO: An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. | MeSH: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow."
+BMGC_DS04432,BMG_DS006798,"MeSH: An infectious disease caused by a spirochete, BORRELIA BURGDORFERI, which is transmitted chiefly by Ixodes dammini (see IXODES) and pacificus ticks in the United States and Ixodes ricinis (see IXODES) in Europe. It is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations. The disease was formerly known as Lyme arthritis and first discovered at Old Lyme, Connecticut."
+BMGC_DS04433,BMG_DS006799,"MONDO: Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."
+BMGC_DS04434,BMG_DS006800,"MONDO: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) | MONDO: A congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. | MeSH: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)"
+BMGC_DS04435,BMG_DS006803,HPO: Accumulation of fluid within the layers of the retina not limited to the macular region. [PMID:29126927]
+BMGC_DS04436,BMG_DS006804,"MONDO: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. | MeSH: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
+BMGC_DS04437,BMG_DS006805,"MeSH: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
+BMGC_DS04438,BMG_DS006806,"HPO: Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. [https://orcid.org/0000-0002-0736-9199] | MeSH: Fluid accumulation within the PERICARDIUM. Serous effusions are associated with pericardial diseases. Hemopericardium is associated with trauma. Lipid-containing effusion (chylopericardium) results from leakage of THORACIC DUCT. Severe cases can lead to CARDIAC TAMPONADE."
+BMGC_DS04439,BMG_DS006807,"NCI: A transient inflammatory pulmonary disorder characterized by eosinophilia. Eosinophilic infiltration of the lungs may be secondary to parasitic infection or drug hypersensitivity. Clinical signs include dry cough, fever and dyspnea. Prognosis is favorable as the disorder follows a self-limited course. | MeSH: A condition characterized by infiltration of the lung with EOSINOPHILS due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents."
+BMGC_DS04440,BMG_DS006808,"MeSH: A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections."
+BMGC_DS04441,BMG_DS006809,MONDO: A disorder involving the attachment of a tendon or ligament to a bone | MeSH: A disorder occurring at the site of insertion of TENDONS or LIGAMENTS into bones or JOINT CAPSULES.
+BMGC_DS04442,BMG_DS006811,MeSH: Abnormally rapid heartbeats with sudden onset and cessation.
+BMGC_DS04443,BMG_DS006813,"MeSH: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant."
+BMGC_DS04444,BMG_DS006814,"MeSH: A biochemical abnormality referring to an elevation of BLOOD UREA NITROGEN and CREATININE. Azotemia can be produced by KIDNEY DISEASES or other extrarenal disorders. When azotemia becomes associated with a constellation of clinical signs, it is termed UREMIA."
+BMGC_DS04445,BMG_DS006817,"NCI: A rapid, multivectorial, conjugate, involuntary eye movement, without an intersaccadic interval. | MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS04446,BMG_DS006818,"NCI: A hereditary immunodeficiency disorder caused by the lack of expression of major histocompatibility complex (MHC) proteins. Signs include upper and lower respiratory tract bacterial infections, malabsorption, diarrhea, and mucocutaneous candidiasis. | MeSH: Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID)."
+BMGC_DS04447,BMG_DS006819,HPO: The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. [https://orcid.org/0000-0002-7744-1790] | MONDO: An autoimmune form of thrombocytopenia.
+BMGC_DS04448,BMG_DS006820,"MeSH: Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection."
+BMGC_DS04449,BMG_DS006823,"MONDO: Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause. | MeSH: A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)."
+BMGC_DS04450,BMG_DS006824,"MONDO: A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation. | MeSH: A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without AMPUTATION, SURGICAL."
+BMGC_DS04451,BMG_DS006825,"MONDO: An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001) | MeSH: Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (MALT) type as a result of an immunologically mediated disorder."
+BMGC_DS04452,BMG_DS006826,"MONDO: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. | MeSH: An autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated PROTEIN C (also a vitamin K-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (From Harrison's Principles of Internal Medicine, 12th ed, p1511; Wintrobe's Clinical Hematology, 9th ed, p1523)"
+BMGC_DS04453,BMG_DS006830,"MeSH: Decrease, loss, or removal of the mineral constituents of bones. Temporary loss of bone mineral content is especially associated with space flight, weightlessness, and extended immobilization. OSTEOPOROSIS is permanent, includes reduction of total bone mass, and is associated with increased rate of fractures. CALCIFICATION, PHYSIOLOGIC is the process of bone remineralizing. (From Dorland, 27th ed; Stedman, 25th ed; Nicogossian, Space Physiology and Medicine, 2d ed, pp327-33)"
+BMGC_DS04454,BMG_DS006831,"MONDO: Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary) | MeSH: Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)"
+BMGC_DS04455,BMG_DS006833,"NCI: A form of organizing pneumonia with a non-infectious etiology. Excessive proliferation of granulation tissue occurs in alveolar ducts and alveoli and primarily causes injury to alveolar walls, but bronchioles may be affected. | MONDO: Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found. | MeSH: An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a pneumonia-like illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts."
+BMGC_DS04456,BMG_DS006834,"MeSH: Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females."
+BMGC_DS04457,BMG_DS006836,"MONDO: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes. | MeSH: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes."
+BMGC_DS04458,BMG_DS006837,"MeSH: A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS)."
+BMGC_DS04459,BMG_DS006841,"MeSH: A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA <36 degrees C; (2) TACHYCARDIA >90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS."
+BMGC_DS04460,BMG_DS006842,"MONDO: OBSOLETE. An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61) | MeSH: An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen MR. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61)"
+BMGC_DS04461,BMG_DS006848,"MeSH: An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)"
+BMGC_DS04462,BMG_DS006849,"MONDO: Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV). | MeSH: Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional."
+BMGC_DS04463,BMG_DS006850,MONDO: Encephalitis resulting from viral infection. | MeSH: Inflammation of brain parenchymal tissue as a result of viral infection. Encephalitis may occur as primary or secondary manifestation of TOGAVIRIDAE INFECTIONS; HERPESVIRIDAE INFECTIONS; ADENOVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; BUNYAVIRIDAE INFECTIONS; PICORNAVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; ORTHOMYXOVIRIDAE INFECTIONS; RETROVIRIDAE INFECTIONS; and ARENAVIRIDAE INFECTIONS.
+BMGC_DS04464,BMG_DS006851,"MONDO: An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. | MeSH: Acute respiratory illness in humans caused by the SIN NOMBRE VIRUS whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure."
+BMGC_DS04465,BMG_DS006852,"MeSH: Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK."
+BMGC_DS04466,BMG_DS006855,"NCI: An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities. | MONDO: An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities."
+BMGC_DS04467,BMG_DS006857,"MONDO: Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities. | MeSH: A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex."
+BMGC_DS04468,BMG_DS006860,"MONDO: A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures. | MeSH: A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC)."
+BMGC_DS04469,BMG_DS006861,MONDO: An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.
+BMGC_DS04470,BMG_DS006862,"NCI: A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes). | MONDO: A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes)."
+BMGC_DS04471,BMG_DS006864,NCI: A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets. | MONDO: A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.
+BMGC_DS04472,BMG_DS006866,
+BMGC_DS04473,BMG_DS006867,
+BMGC_DS04474,BMG_DS006870,MONDO: A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.
+BMGC_DS04475,BMG_DS006874,"HPO: A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. [NCIT:C3908] | MONDO: A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss."
+BMGC_DS04476,BMG_DS006879,"NCI: An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients."
+BMGC_DS04477,BMG_DS006887,MONDO: Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. | MeSH: MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.
+BMGC_DS04478,BMG_DS006888,MeSH: MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.
+BMGC_DS04479,BMG_DS006891,"MeSH: An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)"
+BMGC_DS04480,BMG_DS006894,"HPO: A benign tumor of the parathyroid gland that can cause hyperparathyroidism. [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent."
+BMGC_DS04481,BMG_DS006899,HPO: Repeated infections of the urinary tract. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04482,BMG_DS006903,"NCI: A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum). | MONDO: A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum)."
+BMGC_DS04483,BMG_DS006915,"NCI: A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication. | MONDO: A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication."
+BMGC_DS04484,BMG_DS006916,"HPO: A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS04485,BMG_DS006919,"NCI: Inflammation of the blood vessel wall characterized by palpable purpura. | MONDO: Inflammation of the blood vessel wall characterized by palpable purpura. | MeSH: Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area."
+BMGC_DS04486,BMG_DS007190,
+BMGC_DS04487,BMG_DS007207,"ORPHANET: A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed. | MONDO: Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed. | MeSH: Group of chronic blistering diseases characterized histologically by ACANTHOLYSIS and blister formation within the EPIDERMIS."
+BMGC_DS04488,BMG_DS007220,"HPO: A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. [PMID:22346281] | MONDO: Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success. | MeSH: Chronic urticaria with identified triggering factor which is either physical, e.g., vibratory urticaria, or non-physical, e.g., aquagenic urticaria."
+BMGC_DS04489,BMG_DS007224,"MONDO: An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. | MeSH: Wheals (urticaria) and/or angioedema presented with daily symptoms lasting for more than 6 weeks. It may be classified into chronic spontaneous and chronic inducible urticaria depending on whether a specific trigger can be linked to the development of vascular reaction."
+BMGC_DS04490,BMG_DS007237,"MONDO: Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities."
+BMGC_DS04491,BMG_DS007251,"MeSH: Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome."
+BMGC_DS04492,BMG_DS007255,
+BMGC_DS04493,BMG_DS007260,"MONDO: Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop."
+BMGC_DS04494,BMG_DS007261,"NCI: A very common, non-neoplastic dermatologic disorder characterized by keratinization of hair follicles of the skin. It manifests as small, rough folliculocentric keratotic papules, usually in the outer-upper arms and thighs. It affects children and adolescents and usually improves with age. | MONDO: A form of dry skin characterized by hair follicles plugged by scale."
+BMGC_DS04495,BMG_DS007262,
+BMGC_DS04496,BMG_DS007272,"ORPHANET: Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses. | MONDO: Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses."
+BMGC_DS04497,BMG_DS007275,"HPO: A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. [https://orcid.org/0009-0006-4530-3154]"
+BMGC_DS04498,BMG_DS007276,
+BMGC_DS04499,BMG_DS007279,"NCI: A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. | MONDO: A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. | MeSH: A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules."
+BMGC_DS04500,BMG_DS007285,"HPO: Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS04501,BMG_DS007290,MONDO: An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.
+BMGC_DS04502,BMG_DS007291,"HPO: Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS04503,BMG_DS007311,"MeSH: ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants."
+BMGC_DS04504,BMG_DS007323,MONDO: A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash.
+BMGC_DS04505,BMG_DS007325,
+BMGC_DS04506,BMG_DS007331,MONDO: An alopecia areata that involves diffuse loss of hair over the whole scalp.
+BMGC_DS04507,BMG_DS007338,"ORPHANET: A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases. | MONDO: Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases."
+BMGC_DS04508,BMG_DS007340,"HPO: Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. [https://orcid.org/0000-0002-0736-9199] | MONDO: Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome."
+BMGC_DS04509,BMG_DS007351,HPO: Loss of all hair on the entire body. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04510,BMG_DS007352,"ORPHANET: Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia. | MONDO: Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia."
+BMGC_DS04511,BMG_DS007362,"NCI: A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress. | MONDO: A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress."
+BMGC_DS04512,BMG_DS007406,"NCI: An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs. | MONDO: An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs."
+BMGC_DS04513,BMG_DS007437,ORPHANET: A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. | MONDO: Angioma serpiginosum (AS) is a benign congenital skin disease characterized by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.
+BMGC_DS04514,BMG_DS007438,
+BMGC_DS04515,BMG_DS007439,NCI: An angiokeratoma that is located on the scrotum. | MONDO: An angiokeratoma that is located on the scrotum or vulva.
+BMGC_DS04516,BMG_DS007440,"HPO: A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter. [PMID:8993949]"
+BMGC_DS04517,BMG_DS007458,
+BMGC_DS04518,BMG_DS007462,"ORPHANET: An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue. | MONDO: Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. | MeSH: A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)"
+BMGC_DS04519,BMG_DS007583,"MONDO: SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis."
+BMGC_DS04520,BMG_DS007611,"MeSH: Inflammation or irritation of a JOINT CAPSULE. | MeSH: Inflammation or irritation of a SYNOVIAL BURSA, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin."
+BMGC_DS04521,BMG_DS007635,HPO: Inflammation of the Achilles tendon. []
+BMGC_DS04522,BMG_DS007658,MONDO: A bursitis that involves the olecranon.
+BMGC_DS04523,BMG_DS007668,"MeSH: Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9)"
+BMGC_DS04524,BMG_DS007680,HPO: Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. [PMID:26672439]
+BMGC_DS04525,BMG_DS007684,"NCI: Inflammation and induration of the fascia related to an accumulation of white blood cells, including eosinophils. | MONDO: Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed."
+BMGC_DS04526,BMG_DS007687,
+BMGC_DS04527,BMG_DS007748,"ORPHANET: A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course. | MONDO: Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course."
+BMGC_DS04528,BMG_DS007771,
+BMGC_DS04529,BMG_DS007775,"MeSH: Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL)."
+BMGC_DS04530,BMG_DS007782,"HPO: An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. [https://orcid.org/0009-0006-4530-3154] | MONDO: Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology."
+BMGC_DS04531,BMG_DS007815,
+BMGC_DS04532,BMG_DS007878,MONDO: Increased collapsibility of the larynx. | MeSH: A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.
+BMGC_DS04533,BMG_DS007892,"HPO: Calcification (abnormal deposits of calcium) in the tracheal tissues. [https://orcid.org/0000-0002-0736-9199, PMID:18663210] | MONDO: Abnormal deposits of calcium in the tracheal tissue."
+BMGC_DS04534,BMG_DS007909,MeSH: A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing.
+BMGC_DS04535,BMG_DS007912,MeSH: Persistent abnormal dilatation of the bronchi.
+BMGC_DS04536,BMG_DS007914,MeSH: Persistent abnormal dilatation of the bronchi.
+BMGC_DS04537,BMG_DS007944,"HPO: Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. [https://orcid.org/0000-0003-0113-912X, PMID:1395384, PMID:18195376, PMID:8370825] | MeSH: Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions."
+BMGC_DS04538,BMG_DS007964,"MONDO: Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE. | MeSH: Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE."
+BMGC_DS04539,BMG_DS007973,NCI: Pneumoconiosis caused by inhalation of kaolin dust. | MONDO: Pneumoconiosis caused by inhalation of kaolin dust.
+BMGC_DS04540,BMG_DS008010,"NCI: Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. | MONDO: Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock."
+BMGC_DS04541,BMG_DS008019,"MeSH: Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors."
+BMGC_DS04542,BMG_DS008027,"HPO: A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. [https://orcid.org/0000-0002-0104-692X, PMID:20028911] | MeSH: Pneumonia due to aspiration or inhalation of various oily or fatty substances or otherwise accumulation of endogenous lipid substances in the PULMONARY ALVEOLI."
+BMGC_DS04543,BMG_DS008028,"HPO: Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. [https://orcid.org/0000-0002-0736-9199, PMID:32040879] | MONDO: Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment."
+BMGC_DS04544,BMG_DS008031,MeSH: Severe complication of pneumonia characterized by liquefaction of lung tissue.
+BMGC_DS04545,BMG_DS008069,"MeSH: An accumulation of air or gas in the PLEURAL CAVITY, which may occur spontaneously or as a result of trauma or a pathological process. The gas may also be introduced deliberately during PNEUMOTHORAX, ARTIFICIAL."
+BMGC_DS04546,BMG_DS008089,MeSH: Difficulty and/or pain in PHONATION or speaking.
+BMGC_DS04547,BMG_DS008099,"MeSH: Pathological processes that affect voice production, usually involving VOCAL CORDS and the LARYNGEAL MUCOSA. Voice disorders can be caused by organic (anatomical), or functional (emotional or psychological) factors leading to DYSPHONIA; APHONIA; and defects in VOICE QUALITY, loudness, and pitch."
+BMGC_DS04548,BMG_DS008106,"HPO: A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. [https://orcid.org/0000-0002-0736-9199] | MeSH: A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)"
+BMGC_DS04549,BMG_DS008167,
+BMGC_DS04550,BMG_DS008181,
+BMGC_DS04551,BMG_DS008183,
+BMGC_DS04552,BMG_DS008207,
+BMGC_DS04553,BMG_DS008209,"MONDO: A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9) | MeSH: A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)"
+BMGC_DS04554,BMG_DS008226,NCI: A disorder of the mitral valve secondary to rheumatic fever. | MONDO: A rheumatologic disorder that involves the mitral valve.
+BMGC_DS04555,BMG_DS008234,
+BMGC_DS04556,BMG_DS008236,NCI: A disorder of the tricuspid valve secondary to rheumatic fever.
+BMGC_DS04557,BMG_DS008247,MONDO: An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.
+BMGC_DS04558,BMG_DS008285,"NCI: A disorder characterised by persistent eosinophilia and acute endocardial lesions, which may progress to endomyocardial fibrosis; most cases are idopathic, but there is some association with malignant tumors."
+BMGC_DS04559,BMG_DS008330,"HPO: Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. [https://orcid.org/0000-0002-0736-9199, PMID:21143934]"
+BMGC_DS04560,BMG_DS008331,NCI: A disorder affecting the conduction system that sends electrical signals in the myocardium.
+BMGC_DS04561,BMG_DS008336,NCI: An electrocardiographic finding of an arrhythmia originating from within the atrioventricular node.
+BMGC_DS04562,BMG_DS008342,NCI: Intermittent failure of atrial electrical impulse conduction to the ventricles. | MONDO: Intermittent failure of atrial electrical impulse conduction to the ventricles.
+BMGC_DS04563,BMG_DS008370,MeSH: A heterogeneous group of diseases characterized by inflammation and necrosis of the blood vessel walls.
+BMGC_DS04564,BMG_DS008409,NCI: A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.
+BMGC_DS04565,BMG_DS008410,NCI: A ruptured aneurysm located in the portion of the descending aortic wall that is within the abdomen.
+BMGC_DS04566,BMG_DS008419,
+BMGC_DS04567,BMG_DS008437,
+BMGC_DS04568,BMG_DS008445,MONDO: A thrombophlebitis that involves the femoral vein.
+BMGC_DS04569,BMG_DS008462,"MeSH: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated."
+BMGC_DS04570,BMG_DS008463,NCI: Evidence of occlusion and stenosis of basilar artery.
+BMGC_DS04571,BMG_DS008465,HPO: Complete obstruction of a carotid artery. [https://orcid.org/0000-0001-5208-3432] | MONDO: A occlusion precerebral artery that involves the carotid artery segment.
+BMGC_DS04572,BMG_DS008466,"MeSH: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated."
+BMGC_DS04573,BMG_DS008470,"MeSH: Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)."
+BMGC_DS04574,BMG_DS008475,
+BMGC_DS04575,BMG_DS008543,"NCI: A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. | MONDO: A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities."
+BMGC_DS04576,BMG_DS008544,"MONDO: A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a \"
+BMGC_DS04577,BMG_DS008546,"MONDO: Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia."
+BMGC_DS04578,BMG_DS008551,"MONDO: Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry."
+BMGC_DS04579,BMG_DS008552,"ORPHANET: A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae. | MONDO: Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth."
+BMGC_DS04580,BMG_DS008554,"HPO: An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. [https://orcid.org/0000-0002-0736-9199, PMID:8923935] | MONDO: A muscle tissue disease characterized by congenital joint contractures of hand and feet."
+BMGC_DS04581,BMG_DS008556,"NCI: A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. | MONDO: A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia."
+BMGC_DS04582,BMG_DS008557,"MONDO: A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis."
+BMGC_DS04583,BMG_DS008559,"MONDO: A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip."
+BMGC_DS04584,BMG_DS008560,"MONDO: Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations."
+BMGC_DS04585,BMG_DS008561,
+BMGC_DS04586,BMG_DS008562,"MeSH: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)"
+BMGC_DS04587,BMG_DS008563,"MONDO: Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity."
+BMGC_DS04588,BMG_DS008564,"NCI: A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties. | MONDO: A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis."
+BMGC_DS04589,BMG_DS008565,"ORPHANET: A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus."
+BMGC_DS04590,BMG_DS008566,"MONDO: Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies."
+BMGC_DS04591,BMG_DS008570,MONDO: Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
+BMGC_DS04592,BMG_DS008571,"MONDO: A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). | MeSH: An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)"
+BMGC_DS04593,BMG_DS008572,"NCI: An autosomal dominant condition caused by mutation(s) in the COL11A1 gene, encoding collagen alpha-1(XI) chain. The syndrome may be characterized by facial dysmorphism, cataracts, myopia, hearing loss, and short stature. Mutation(s) in the COL11A1 gene are causative in Stickler syndrome, but the phenotype of Marshall syndrome is more mild. | MONDO: Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis."
+BMGC_DS04594,BMG_DS008574,"ORPHANET: Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness. | MONDO: Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness."
+BMGC_DS04595,BMG_DS008575,MeSH: Mandibulofacial dysostosis with congenital eyelid dermoids.
+BMGC_DS04596,BMG_DS008577,"NCI: A fatal, congenital, anatomic defect of the head characterised by a total or near total absence of the lower jaw, resulting in the union or close approach of the ears on the ventral side of the neck. | MONDO: Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis."
+BMGC_DS04597,BMG_DS008579,"MONDO: Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects."
+BMGC_DS04598,BMG_DS008580,"MONDO: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart."
+BMGC_DS04599,BMG_DS008581,"MONDO: An extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay."
+BMGC_DS04600,BMG_DS008582,"MONDO: Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii."
+BMGC_DS04601,BMG_DS008583,"MONDO: The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies."
+BMGC_DS04602,BMG_DS008584,"MONDO: A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes."
+BMGC_DS04603,BMG_DS008585,"NCI: A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities. | MONDO: Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)."
+BMGC_DS04604,BMG_DS008586,
+BMGC_DS04605,BMG_DS008587,"MONDO: Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia."
+BMGC_DS04606,BMG_DS008589,"MONDO: A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora."
+BMGC_DS04607,BMG_DS008590,"ORPHANET: A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. | MONDO: An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal."
+BMGC_DS04608,BMG_DS008591,"MONDO: A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant."
+BMGC_DS04609,BMG_DS008593,ORPHANET: Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. | MONDO: Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.
+BMGC_DS04610,BMG_DS008594,MONDO: Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
+BMGC_DS04611,BMG_DS008595,ORPHANET: Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
+BMGC_DS04612,BMG_DS008596,"ORPHANET: A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. | MONDO: CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies."
+BMGC_DS04613,BMG_DS008597,"MONDO: Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects."
+BMGC_DS04614,BMG_DS008598,"ORPHANET: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system, anomalies of the ears with sensorineural or mixed hearing loss, hypoplasia, aplasia or atresia of the salivary glands, dental anomalies, and digital malformations. Patients present obstruction of the nasal lacrimal ducts that can lead to epiphora, and chronic conjunctivitis due to alacrimia. Aplasia or hypoplasia of the salivary glands lead to dry mouth and early onset of severe dental caries. Dental features include late tooth eruption, small and peg-shaped lateral maxillary incisors and mild enamel dysplasia. The digital features are variable and include fifth finger clinodactyly, duplication of the distal phalanx of the thumb, triphalangeal thumb, and/or syndactyly. Unilateral radial aplasia and radial-ulnar synostosis have also been reported in association. | MONDO: A multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations."
+BMGC_DS04615,BMG_DS008599,"ORPHANET: A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. | MONDO: Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage."
+BMGC_DS04616,BMG_DS008600,"ORPHANET: A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. | MONDO: Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage."
+BMGC_DS04617,BMG_DS008601,"MONDO: Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"
+BMGC_DS04618,BMG_DS008602,"NCI: A rare, autosomal dominant inherited bone growth disorder caused by mutations in the COL2A1gene. It is characterized by short stature (dwarfism) and other skeletal abnormalities, round, flat face with bulging and wide-set eyes, myopia and retinal detachment that can lead to blindness. | MONDO: Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root)."
+BMGC_DS04619,BMG_DS008603,"SNOMEDCT_US: Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. | MONDO: Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly."
+BMGC_DS04620,BMG_DS008604,"NCI: An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by a variable phenotype, which may include short limbs, kyphoscoliosis, and other skeletal abnormalities. | MONDO: Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood."
+BMGC_DS04621,BMG_DS008605,"SNOMEDCT_US: Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. | MONDO: Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported."
+BMGC_DS04622,BMG_DS008606,"SNOMEDCT_US: A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. | MONDO: Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings."
+BMGC_DS04623,BMG_DS008607,"NCI: A rare, autosomal recessive inherited syndrome caused by mutations in the DYM gene. It is characterized by abnormal skeletal development, microcephaly, and intellectual disability. | MONDO: Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias."
+BMGC_DS04624,BMG_DS008608,"ORPHANET: A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. | MONDO: A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands."
+BMGC_DS04625,BMG_DS008609,"ORPHANET: Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. | MONDO: Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait."
+BMGC_DS04626,BMG_DS008610,"HPO: An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. [https://orcid.org/0000-0002-0736-9199, PMID:335375]"
+BMGC_DS04627,BMG_DS008612,"ORPHANET: Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. | MONDO: Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones."
+BMGC_DS04628,BMG_DS008613,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. | MONDO: Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss."
+BMGC_DS04629,BMG_DS008614,"ORPHANET: A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs. | MONDO: A bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning."
+BMGC_DS04630,BMG_DS008615,"NCI: A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to PTH resistance can appear later in childhood. | MONDO: Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia."
+BMGC_DS04631,BMG_DS008619,"NCI: An autosomal recessive form of craniotubular hyperostosis due to loss-of-function mutation(s) in the SOST gene, encoding sclerostin. Clinical features include tall stature, enlarged jaw and facial bones, and cranial nerve compression leading to hearing loss and facial palsy. About two-thirds of patients have syndactyly and/or nail malformations. Increased intracranial pressure due to the thickened calvaria and skull base can occur. | MONDO: Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure."
+BMGC_DS04632,BMG_DS008621,"NCI: An autosomal dominant genetic disorder caused by mutations in the GLI3 gene. It is characterized by physical abnormalities of the fingers and/or toes (extra fingers and/ or toes, fusion of the fingers and/or toes), large size head with prominent forehead and hypertelorism. | MONDO: Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome."
+BMGC_DS04633,BMG_DS008622,"MONDO: Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius)."
+BMGC_DS04634,BMG_DS008623,"NCI: A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement. | MONDO: Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity."
+BMGC_DS04635,BMG_DS008626,"MONDO: Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. | MeSH: Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen."
+BMGC_DS04636,BMG_DS008628,"MONDO: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. | MeSH: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs."
+BMGC_DS04637,BMG_DS008631,"NCI: A non-neoplastic hamartomatous polyp that arises from the small intestine. It is characterized by the presence of smooth muscle branching bands, and cystic mucosal changes."
+BMGC_DS04638,BMG_DS008633,"MONDO: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. | MeSH: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE."
+BMGC_DS04639,BMG_DS008635,"MeSH: A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities."
+BMGC_DS04640,BMG_DS008636,MONDO: Autosomal dominant form of hypohidrotic ectodermal dysplasia.
+BMGC_DS04641,BMG_DS008637,"ORPHANET: Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. | MONDO: Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterized by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull."
+BMGC_DS04642,BMG_DS008638,"MONDO: Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. | MeSH: A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS."
+BMGC_DS04643,BMG_DS008640,MONDO: Autosomal dominant form of KID syndrome.
+BMGC_DS04644,BMG_DS008641,"MONDO: Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations."
+BMGC_DS04645,BMG_DS008642,"MONDO: A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes."
+BMGC_DS04646,BMG_DS008643,"MONDO: Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly."
+BMGC_DS04647,BMG_DS008644,"MONDO: Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis."
+BMGC_DS04648,BMG_DS008645,"NCI: A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in the spine and ribs. | MONDO: Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)."
+BMGC_DS04649,BMG_DS008646,"MONDO: Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation. | MeSH: Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death."
+BMGC_DS04650,BMG_DS008647,"NCI: An autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by lymphedema and distichiasis. | MONDO: Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations."
+BMGC_DS04651,BMG_DS008653,"NCI: A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. | MONDO: CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). | MeSH: Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome."
+BMGC_DS04652,BMG_DS008663,"MONDO: A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly."
+BMGC_DS04653,BMG_DS008724,"NCI: A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin. | MONDO: Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p."
+BMGC_DS04654,BMG_DS008757,"MONDO: Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present."
+BMGC_DS04655,BMG_DS008768,"NCI: A rare genetic syndrome caused by abnormalities of chromosome 22. It is characterized by anal atresia with fistula formation, coloboma of the iris, down slanting palpebral fissures, and heart and kidney malformations. | MONDO: Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal."
+BMGC_DS04656,BMG_DS008774,"MONDO: The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. | MeSH: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)."
+BMGC_DS04657,BMG_DS008778,MONDO: Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.
+BMGC_DS04658,BMG_DS008779,"HPO: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. [PMID:19125436]"
+BMGC_DS04659,BMG_DS008780,NCI: A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances. | MONDO: A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.
+BMGC_DS04660,BMG_DS008781,"NCI: A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. | MONDO: Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported."
+BMGC_DS04661,BMG_DS008782,"MONDO: Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance."
+BMGC_DS04662,BMG_DS008783,
+BMGC_DS04663,BMG_DS008784,
+BMGC_DS04664,BMG_DS008790,MONDO: Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.
+BMGC_DS04665,BMG_DS008798,"MONDO: Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging."
+BMGC_DS04666,BMG_DS008803,MONDO: Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
+BMGC_DS04667,BMG_DS008812,"MONDO: Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated. | MeSH: A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM."
+BMGC_DS04668,BMG_DS008816,NCI: A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. | MONDO: A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.
+BMGC_DS04669,BMG_DS008819,NCI: An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. | MONDO: An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.
+BMGC_DS04670,BMG_DS008820,"NCI: A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities. | MONDO: A respiratory malformation characterized by the presence of both bronchi (albeit rudimentary) and alveoli in an under-developed lobe. Both the size and the weight of the lung are reduced. The true prevalence is not well known (1.4% of all births according to Knox et al. 13), but in cases of premature rupture of membranes at 15-28 weeks gestation, the reported prevalence of pulmonary hypoplasia ranges from 9 to 28%. Factors that contribute to pulmonary hypoplasia include adequate volume of the thoracic cavity, pulmonary fluid dynamics, and abnormal fetal breathing movements."
+BMGC_DS04671,BMG_DS008822,"NCI: A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis. | MONDO: Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung."
+BMGC_DS04672,BMG_DS008829,"NCI: A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. | MONDO: A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure."
+BMGC_DS04673,BMG_DS008836,"HPO: Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. [PMID:10859296, PMID:16322929] | MONDO: Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation."
+BMGC_DS04674,BMG_DS008853,MONDO: A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. | MeSH: An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.
+BMGC_DS04675,BMG_DS008854,
+BMGC_DS04676,BMG_DS008855,"ORPHANET: Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated."
+BMGC_DS04677,BMG_DS008856,"MONDO: Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. | MeSH: A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin."
+BMGC_DS04678,BMG_DS008857,"ORPHANET: A rare, genetic, superficial corneal dystrophy disease characterized by white, elevated, epithelial plaques located on the bulbar conjunctiva (sometimes with encroachment of the cornea) and oral mucosa (in any part of the oral cavity), associated with dilated, hyperemic, conjunctival blood vessels, observed mainly in Haliwa-Saponi Native American descendents. Patients may be asymptomatic or present with ocular itching, superficial corneal scarring, excessive lacrimation, photophobia and visual loss due to corneal opacity. Histologically, both ocular and oral lesions display acanthosis with hyperkeratosis and prominent dyskeratosis. | MONDO: A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported."
+BMGC_DS04679,BMG_DS008858,"ORPHANET: A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. | MONDO: Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. | MeSH: A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis."
+BMGC_DS04680,BMG_DS008859,"NCI: A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. | MONDO: A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. | MeSH: An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES."
+BMGC_DS04681,BMG_DS008862,"MONDO: A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot."
+BMGC_DS04682,BMG_DS008863,"HPO: A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones. [PMID:23888253] | MONDO: A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood."
+BMGC_DS04683,BMG_DS008867,HPO: Aplasia of the nail. [https://orcid.org/0000-0002-0736-9199] | MONDO: Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.
+BMGC_DS04684,BMG_DS008868,
+BMGC_DS04685,BMG_DS008869,"ORPHANET: A rare, syndromic genetic deafness disease characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness."
+BMGC_DS04686,BMG_DS008870,"ORPHANET: Björnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. | MONDO: Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome."
+BMGC_DS04687,BMG_DS008872,"HPO: Presence of more than two nipples. [https://orcid.org/0000-0002-0736-9199] | MONDO: Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported."
+BMGC_DS04688,BMG_DS008875,
+BMGC_DS04689,BMG_DS008877,"HPO: Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. [https://orcid.org/0000-0002-9338-3017, PMID:31468724] | MONDO: Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome."
+BMGC_DS04690,BMG_DS008889,
+BMGC_DS04691,BMG_DS008890,"NCI: A congenital malformation characterized by the absence of a normal opening in a part of the small intestine. | MONDO: Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases."
+BMGC_DS04692,BMG_DS008891,NCI: A congenital malformation characterized by the absence of a normal opening in a part of the duodenum. | MONDO: Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.
+BMGC_DS04693,BMG_DS008897,HPO: A developmental defect in which the gallbladder fails to form. [https://orcid.org/0000-0002-6410-0882]
+BMGC_DS04694,BMG_DS008900,"HPO: Mislocalised thyroid gland. [https://orcid.org/0009-0006-4530-3154] | MONDO: Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."
+BMGC_DS04695,BMG_DS008901,NCI: A congenital abnormality characterized by the presence of only one kidney. | MONDO: Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.
+BMGC_DS04696,BMG_DS008902,"HPO: Hypoplasia of the kidney. [https://orcid.org/0000-0002-0736-9199] | MONDO: Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied."
+BMGC_DS04697,BMG_DS008903,"HPO: A developmental defect characterized by absence or poor development of proximal renal tubules. [https://orcid.org/0000-0002-0736-9199] | MONDO: Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner."
+BMGC_DS04698,BMG_DS008909,"NCI: A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. | MONDO: A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. | MeSH: Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism."
+BMGC_DS04699,BMG_DS008910,HPO: An abnormality of the uterus. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04700,BMG_DS008917,"NCI: A condition characterized by typical male genital appearance in a 46,XY individual in whom testes are unable to be located. | MONDO: Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene."
+BMGC_DS04701,BMG_DS008918,MONDO: Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.
+BMGC_DS04702,BMG_DS008920,"MONDO: The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis. | MeSH: A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex."
+BMGC_DS04703,BMG_DS008921,MONDO: A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction. | MeSH: Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.
+BMGC_DS04704,BMG_DS008922,
+BMGC_DS04705,BMG_DS008924,"HPO: Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:22427329]"
+BMGC_DS04706,BMG_DS008925,"NCI: A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures. | MONDO: Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation."
+BMGC_DS04707,BMG_DS008926,"MeSH: Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions."
+BMGC_DS04708,BMG_DS008928,"HPO: Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438]"
+BMGC_DS04709,BMG_DS008932,"HPO: Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. [PMID:23345532, PMID:25754805] | MONDO: Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis."
+BMGC_DS04710,BMG_DS008933,"MONDO: A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders."
+BMGC_DS04711,BMG_DS008936,"HPO: A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. [https://orcid.org/0000-0002-0736-9199] | MONDO: Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene."
+BMGC_DS04712,BMG_DS008937,
+BMGC_DS04713,BMG_DS008938,"HPO: Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. [https://orcid.org/0000-0002-0736-9199] | MONDO: Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies."
+BMGC_DS04714,BMG_DS008939,"MONDO: A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.) | MeSH: A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by CATARACT; MICROPHTHALMOS (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)"
+BMGC_DS04715,BMG_DS008940,ORPHANET: Congenital ptosis is characterized by superior eyelid drop present at birth.
+BMGC_DS04716,BMG_DS008944,HPO: An abnormality of the ear. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04717,BMG_DS008947,NCI: The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22. | MONDO: The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22.
+BMGC_DS04718,BMG_DS008957,"NCI: A situation in utero, when there is increased pressure on the umbilical cord, which constricts blood supply to the fetus."
+BMGC_DS04719,BMG_DS008976,"SNOMEDCT_US: A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections. | MONDO: A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n."
+BMGC_DS04720,BMG_DS008981,MONDO: A dental caries that involves the dentine.
+BMGC_DS04721,BMG_DS008985,MONDO: A dental caries that involves the enamel.
+BMGC_DS04722,BMG_DS009004,
+BMGC_DS04723,BMG_DS009018,NCI: Localized collection of pus in the tissues that enclose the root of a tooth and is associated with the presence of a sinus tract.
+BMGC_DS04724,BMG_DS009022,
+BMGC_DS04725,BMG_DS009025,NCI: A non-neoplastic nodular lesion that arises from the gingiva. | MONDO: A non-neoplastic nodular lesion that arises from the gingiva. | MeSH: Diseases involving the GINGIVA.
+BMGC_DS04726,BMG_DS009033,"MONDO: A chronic inflammatory process that affects the tissues that surround and support the teeth. | MeSH: Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people."
+BMGC_DS04727,BMG_DS009077,"NCI: A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma. | MONDO: A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma."
+BMGC_DS04728,BMG_DS009080,"MONDO: A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness. | MeSH: A viral disease caused by at least two distinct species (serotypes) in the VESICULOVIRUS genus: VESICULAR STOMATITIS INDIANA VIRUS and VESICULAR STOMATITIS NEW JERSEY VIRUS. It is characterized by vesicular eruptions on the ORAL MUCOSA in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness."
+BMGC_DS04729,BMG_DS009095,NCI: Cheilitis due to chronic exposure to ultraviolet (UV) radiation. It may increase the risk for the development of invasive squamous cell carcinoma of the lip.
+BMGC_DS04730,BMG_DS009114,
+BMGC_DS04731,BMG_DS009126,NCI: Difficulty in swallowing due to an abnormality in the mouth or throat. | MeSH: Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS.
+BMGC_DS04732,BMG_DS009127,NCI: Difficulty in swallowing due to an abnormality in the esophagus. | MeSH: Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS.
+BMGC_DS04733,BMG_DS009136,"HPO: A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease. [HPO_CONTRIBUTOR:UToronto_htrang, PMID:23765246] | MONDO: A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma."
+BMGC_DS04734,BMG_DS009146,
+BMGC_DS04735,BMG_DS009184,"HPO: Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. [https://orcid.org/0000-0001-5208-3432, PMID:23904840] | MONDO: An eosinophilic gastroenteritis that is characterized by inflammation of the stomach."
+BMGC_DS04736,BMG_DS009203,
+BMGC_DS04737,BMG_DS009207,
+BMGC_DS04738,BMG_DS009227,"MONDO: Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding. | MeSH: A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE."
+BMGC_DS04739,BMG_DS009295,"NCI: Evidence of an acute peptic ulcer, site unspecified, with hemorrhage."
+BMGC_DS04740,BMG_DS009344,MONDO: A angiodysplasia that involves the intestine.
+BMGC_DS04741,BMG_DS009350,"HPO: A chronic inflammatory disease of the large intestine (colon, cecum and rectum). [https://orcid.org/0009-0006-4530-3154]"
+BMGC_DS04742,BMG_DS009360,
+BMGC_DS04743,BMG_DS009363,MONDO: Inflammation of the rectum and the distal portion of the colon.
+BMGC_DS04744,BMG_DS009405,
+BMGC_DS04745,BMG_DS009427,NCI: Fibrosis of the wall of a segment of the intestine that leads to intestinal lumen narrowing.
+BMGC_DS04746,BMG_DS009444,NCI: A circumscribed inflammatory and necrotic erosive lesion in the mucosa surface of the colon.
+BMGC_DS04747,BMG_DS009450,NCI: Inflammation of a congenital diverticulum of the lower intestine. | MONDO: Inflammation of a congenital diverticulum of the lower intestine.
+BMGC_DS04748,BMG_DS009455,MONDO: A diverticulitis that involves the small intestine.
+BMGC_DS04749,BMG_DS009461,
+BMGC_DS04750,BMG_DS009504,
+BMGC_DS04751,BMG_DS009580,"ORPHANET: A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops. | MONDO: Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene."
+BMGC_DS04752,BMG_DS009581,"ORPHANET: A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. | MONDO: Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis."
+BMGC_DS04753,BMG_DS009603,
+BMGC_DS04754,BMG_DS009647,"NCI: A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. | MONDO: A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. | MeSH: Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS)."
+BMGC_DS04755,BMG_DS009652,"HPO: Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders. []"
+BMGC_DS04756,BMG_DS009664,NCI: Cirrhosis in which no causative agent can be identified.
+BMGC_DS04757,BMG_DS009682,NCI: A cystic lesion located in the liver.
+BMGC_DS04758,BMG_DS009687,MONDO: Inflammation of the gallbladder in the absence of gallstones. | MeSH: Inflammation of the GALLBLADDER wall in the absence of GALLSTONES.
+BMGC_DS04759,BMG_DS009748,NCI: Cholangitis that is both sudden in onset and of a relatively short duration. | MONDO: Cholangitis that is both sudden in onset and of a relatively short duration.
+BMGC_DS04760,BMG_DS009749,NCI: Cholangitis that is persistent and long-standing. | MONDO: Cholangitis that is persistent and long-standing.
+BMGC_DS04761,BMG_DS009750,
+BMGC_DS04762,BMG_DS009754,HPO: Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess). [PMID:21994886] | MONDO: Cholangitis that is characterized by pyogenic organisms.
+BMGC_DS04763,BMG_DS009765,MONDO: An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. | MeSH: An acute INFLAMMATION of the PANCREAS in which the initial edematous pancreatitis evolved into necrosis accompanied by HEMORRHAGE.
+BMGC_DS04764,BMG_DS009766,"MONDO: An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. | MeSH: A severe form of acute INFLAMMATION of the PANCREAS characterized by one or more areas of NECROSIS in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. Massive pancreatic necrosis may lead to DIABETES MELLITUS, and malabsorption."
+BMGC_DS04765,BMG_DS009777,"MeSH: INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis."
+BMGC_DS04766,BMG_DS009784,"MONDO: Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders."
+BMGC_DS04767,BMG_DS009823,
+BMGC_DS04768,BMG_DS009850,"NCI: An idiopathic form of neonatal hemochromatosis, characterized by liver failure and iron accumulation in the tissues. | MONDO: Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4"
+BMGC_DS04769,BMG_DS009851,"SNOMEDCT_US: The early-onset and most severe form of hereditary hemochromatosis a group of diseases characterized by excessive tissue iron deposition of genetic origin. This juvenile form of hemochromatosis has the classical features of HH but is also characterized by severe cardiomyopathy and hypogonadism. Arthropathy, hepatic fibrosis, glucose intolerance, and increased skin pigmentation are frequent. Two types of the disease have been described, both being transmitted in an autosomal recessive way. | MONDO: Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin."
+BMGC_DS04770,BMG_DS009861,
+BMGC_DS04771,BMG_DS009869,
+BMGC_DS04772,BMG_DS009878,MONDO: A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.
+BMGC_DS04773,BMG_DS009887,
+BMGC_DS04774,BMG_DS009895,"ORPHANET: Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. | MONDO: Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout."
+BMGC_DS04775,BMG_DS009896,"SNOMEDCT_US: A type of classical xanthinuria, this disease is a rare autosomal recessive disorder of purine metabolism with characteristics of isolated deficiency of xanthine dehydrogenase, leading to urolithiasis, haematuria, renal colic and urinary tract infections. Some patients are asymptomatic, others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. | MONDO: A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer."
+BMGC_DS04776,BMG_DS009897,"HPO: Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS04777,BMG_DS009898,"NCI: An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones. | MONDO: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy."
+BMGC_DS04778,BMG_DS009899,
+BMGC_DS04779,BMG_DS009902,"NCI: An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied."
+BMGC_DS04780,BMG_DS009903,"NCI: A rare autosomal recessive immunodeficiency caused by mutation(s) in the PNP gene, encoding purine nucleoside phosphorylase. It is characterized by recurrent infections resulting from severe T-cell dysfunction. | MONDO: Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations."
+BMGC_DS04781,BMG_DS009904,"ORPHANET: A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. | MONDO: Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features."
+BMGC_DS04782,BMG_DS009907,
+BMGC_DS04783,BMG_DS009910,MONDO: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.
+BMGC_DS04784,BMG_DS009911,MONDO: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.
+BMGC_DS04785,BMG_DS009912,MONDO: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene.
+BMGC_DS04786,BMG_DS009913,MONDO: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.
+BMGC_DS04787,BMG_DS009914,MONDO: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene.
+BMGC_DS04788,BMG_DS009918,"NCI: Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers. | MONDO: A type of glycogenosis due to G6P deficiency."
+BMGC_DS04789,BMG_DS009919,NCI: Glycogen storage disease usually inherited in an X-linked recessive pattern. It is characterized by a deficiency of hepatic phosphorylase kinase.
+BMGC_DS04790,BMG_DS009921,"NCI: A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. | MONDO: A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy."
+BMGC_DS04791,BMG_DS009922,"NCI: An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure. | MONDO: Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease."
+BMGC_DS04792,BMG_DS009923,
+BMGC_DS04793,BMG_DS009926,"NCI: An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life. | MONDO: Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice."
+BMGC_DS04794,BMG_DS009928,"ORPHANET: Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. | MONDO: Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated."
+BMGC_DS04795,BMG_DS009930,ORPHANET: Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. | MONDO: Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
+BMGC_DS04796,BMG_DS009932,"NCI: Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency. | MONDO: A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement."
+BMGC_DS04797,BMG_DS009933,"NCI: Recessively inherited primary hyperoxaluria due to glyoxylate reductase/hydroxypyruvate reductase (GRHPR) deficiency. | MONDO: Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis."
+BMGC_DS04798,BMG_DS009944,ORPHANET: Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. | MONDO: Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.
+BMGC_DS04799,BMG_DS009946,MONDO: Adult onset lactose intolerance
+BMGC_DS04800,BMG_DS009950,"ORPHANET: A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period. | MONDO: Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period."
+BMGC_DS04801,BMG_DS009951,"ORPHANET: A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere. | MONDO: This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms."
+BMGC_DS04802,BMG_DS009957,"SNOMEDCT_US: A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) types I and II (RCM/RHM type 1; RCM/RHM type 2). In RCM type 1, cyanosis from birth is the only symptom. RCM type 2 is much more severe; the cyanosis is accompanied by neurological dysfunction (with intellectual deficit, microcephaly, growth retardation, opisthotonus, strabismus and hypertonia), which usually becomes evident during the first four months of life. RCM type 1 is caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. RCM type 2 is caused by global loss of Cb5R function. RCM type 1 is generally associated with missense mutations, whereas RCM type 2 is more commonly associated with truncating mutations, splicing errors or mutations that lead to disruption of the active site."
+BMGC_DS04803,BMG_DS009958,"NCI: A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. | MONDO: Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder."
+BMGC_DS04804,BMG_DS009962,
+BMGC_DS04805,BMG_DS009972,"MeSH: An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)"
+BMGC_DS04806,BMG_DS009973,"MeSH: An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)"
+BMGC_DS04807,BMG_DS009974,"NCI: A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood. | MONDO: Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). | MeSH: A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES."
+BMGC_DS04808,BMG_DS009975,"NCI: An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid associated with neuraminidase deficiency. | MONDO: Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. | MeSH: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)"
+BMGC_DS04809,BMG_DS009976,
+BMGC_DS04810,BMG_DS009981,"NCI: An autosomal recessive lysosomal storage disease caused by mutation(s) in the CTSA gene, encoding lysosomal protective protein. It is characterized by a combined deficiency of neuraminidase and beta-galactosidase. | MONDO: A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form."
+BMGC_DS04811,BMG_DS009982,"MONDO: A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. | MeSH: A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)"
+BMGC_DS04812,BMG_DS009983,"ORPHANET: A form of autosomal recessive neutral lipid storage disease characterized by the accumulation of lipid vacuoles in granulocytes (so-called Jordan's anomaly) and a variety of other cell types. Clinically, the skin symptoms with ichthyosiform erythroderma and scaling are initially in the foreground. Later, steatosis hepatis, hepatomegaly and muscle weakness develop. Other manifestations include growth delay, cataracts, sensorineural hearing loss, intellectual disability and bowel disease."
+BMGC_DS04813,BMG_DS009986,"MONDO: Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. | MeSH: The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage."
+BMGC_DS04814,BMG_DS009987,"MONDO: Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea | MeSH: An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type)."
+BMGC_DS04815,BMG_DS009991,"MeSH: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes  a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry."
+BMGC_DS04816,BMG_DS009992,"MONDO: Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease. | MeSH: An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type)."
+BMGC_DS04817,BMG_DS009993,"MONDO: Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. | MeSH: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. | MeSH: This type usually shows severe neurological effect in the first year of life."
+BMGC_DS04818,BMG_DS009994,"MONDO: Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. | MeSH: This type shows moderate to severe neurological effect in childhood. | MeSH: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement."
+BMGC_DS04819,BMG_DS009995,"MONDO: A Krabbe disease that occurs in an adult. | MeSH: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses."
+BMGC_DS04820,BMG_DS009996,"MONDO: A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. | MeSH: A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE."
+BMGC_DS04821,BMG_DS009999,
+BMGC_DS04822,BMG_DS010000,"MONDO: Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. | MeSH: An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid."
+BMGC_DS04823,BMG_DS010001,"ORPHANET: GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations. | MONDO: GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. | MeSH: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)"
+BMGC_DS04824,BMG_DS010002,"MONDO: GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. | MeSH: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)"
+BMGC_DS04825,BMG_DS010003,"MONDO: GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. | MeSH: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)"
+BMGC_DS04826,BMG_DS010004,"MONDO: A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. | MeSH: A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS."
+BMGC_DS04827,BMG_DS010005,"MONDO: GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. | MeSH: A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein."
+BMGC_DS04828,BMG_DS010006,
+BMGC_DS04829,BMG_DS010013,"ORPHANET: A rare form of congenital adrenal hyperplasia due to 17-alpha-hydroxylase (CYP17A1) deficiency and characterized by glucocorticoid deficiency, mineralocorticoid excess leading to hypokalemic hypertension and sex steroid deficiency (hypergonadotrophic hypogonadism). Undervirilization and even female phenotype in 46,XY males, primary amenorrhea in females and lack of pubertal development in both sexes is common. Residual CYP17A1 activity is associated with the severity of this condition with a large spectrum of variability, from presenting in early infancy, to unusually mild courses with isolated sex steroid deficiency but normal ACTH-stimulated cortisol in adult patients. | MONDO: A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension."
+BMGC_DS04830,BMG_DS010018,"ORPHANET: A rare form of classic congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. | MONDO: Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females."
+BMGC_DS04831,BMG_DS010019,
+BMGC_DS04832,BMG_DS010020,"NCI: Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. | MONDO: Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production."
+BMGC_DS04833,BMG_DS010021,NCI: An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism. | MONDO: A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.
+BMGC_DS04834,BMG_DS010022,"MONDO: Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. | MeSH: A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY."
+BMGC_DS04835,BMG_DS010030,NCI: A genetic syndrome affecting infants and children. It is characterized by chronic intrahepatic cholestasis usually progressing to cirrhosis within the first ten years of life. | MONDO: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
+BMGC_DS04836,BMG_DS010032,"ORPHANET: Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. | MONDO: Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life."
+BMGC_DS04837,BMG_DS010035,"ORPHANET: Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. | MONDO: A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery."
+BMGC_DS04838,BMG_DS010039,MONDO: An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.
+BMGC_DS04839,BMG_DS010043,ORPHANET: A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms. | MONDO: An extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.
+BMGC_DS04840,BMG_DS010046,"NCI: A classic type of Ehlers-Danlos syndrome resulting from autosomal dominant mutation(s) in the COL5A1 gene, encoding collagen alpha-1(V) chain. | MONDO: Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene."
+BMGC_DS04841,BMG_DS010047,"NCI: A classic type of Ehlers-Danlos syndrome resulting from autosomal dominant mutation(s) in the COL5A2 gene, encoding collagen alpha-2(V) chain. | MONDO: Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene."
+BMGC_DS04842,BMG_DS010048,"NCI: Ehlers-Danlos syndrome, type III is the hypermobility type Ehlers-Danlos syndrome. In most cases, the cause is unknown. Mutations in the TNXB gene have been found in a very small percentage of cases. | MONDO: Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations."
+BMGC_DS04843,BMG_DS010049,"NCI: Ehlers-Danlos syndrome, type IV is the vascular type Ehlers-Danlos syndrome. It results from mutations in the COL3A1 gene. | MONDO: Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. | MeSH: A subtype of Ehlers-Danlos syndrome (EDS) characterized by vascular pathologies, e.g., AORTIC DISSECTION in addition to common EDS findings, e.g., hyperextensible skin and joints, skin fragility and reduced wound healing capability. It is associated with mutations in collagen type III alpha 1 chain gene (COLLAGEN TYPE III)."
+BMGC_DS04844,BMG_DS010050,MONDO: The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.
+BMGC_DS04845,BMG_DS010051,MONDO: The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported.
+BMGC_DS04846,BMG_DS010052,"NCI: An X-linked condition characterized by joint hyperextensibility, mild skin hyperelastisity, and abnormal scarring. The molecular basis for this condition has not been fully elucidated. | MONDO: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive."
+BMGC_DS04847,BMG_DS010053,"NCI: Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene. | MONDO: Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. | MONDO: A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility."
+BMGC_DS04848,BMG_DS010055,SNOMEDCT_US: Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome with characteristics of severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness. | MONDO: Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.
+BMGC_DS04849,BMG_DS010057,"ORPHANET: A rare type of Ehlers-Danlos syndrome characterized by childhood or adolescence onset of severe, intractable periodontitis, lack of attached gingiva, and presence of pretibial plaques. Additional manifestations are easy bruising, hypermobility mainly of the distal joints, skin hyperextensibility and fragility, abnormal scarring, recurrent infections, hernias, marfanoid facial features, acrogeria, and prominent vasculature. | MONDO: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility."
+BMGC_DS04850,BMG_DS010060,"ORPHANET: A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. | MONDO: Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement."
+BMGC_DS04851,BMG_DS010061,"ORPHANET: A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). | MONDO: Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)."
+BMGC_DS04852,BMG_DS010063,"ORPHANET: A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable. | MONDO: Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect."
+BMGC_DS04853,BMG_DS010064,"ORPHANET: De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. | MONDO: A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract."
+BMGC_DS04854,BMG_DS010065,"SNOMEDCT_US: A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. | MONDO: An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24."
+BMGC_DS04855,BMG_DS010068,"NCI: A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities. | MONDO: Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera."
+BMGC_DS04856,BMG_DS010071,"NCI: A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face. | MONDO: Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI)."
+BMGC_DS04857,BMG_DS010072,"NCI: A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III. | MONDO: Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI)."
+BMGC_DS04858,BMG_DS010075,
+BMGC_DS04859,BMG_DS010076,
+BMGC_DS04860,BMG_DS010078,"SNOMEDCT_US: A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalised subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localised subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance. | MONDO: Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia."
+BMGC_DS04861,BMG_DS010081,
+BMGC_DS04862,BMG_DS010083,"MONDO: AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. | MeSH: A nonproliferative disorder of PLASMA CELLS characterized by excessive production and misfolding of IMMUNOGLOBULIN LIGHT CHAINS that form insoluble amyloid fibrils (see AMYLOID DEPOSITS) in various tissues. Clinical features include LIVER FAILURE; MULTIPLE MYELOMA; NEPHROTIC SYNDROME; RESTRICTIVE CARDIOMYOPATHY, and neuropathies."
+BMGC_DS04863,BMG_DS010086,"ORPHANET: A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (&lt;50 years or &gt;50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy. | MONDO: A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy. | MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN."
+BMGC_DS04864,BMG_DS010087,MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
+BMGC_DS04865,BMG_DS010088,MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
+BMGC_DS04866,BMG_DS010089,"ORPHANET: A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited."
+BMGC_DS04867,BMG_DS010090,"NCI: An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis. | MONDO: An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). | MeSH: A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations."
+BMGC_DS04868,BMG_DS010092,MeSH: A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES.
+BMGC_DS04869,BMG_DS010094,"ORPHANET: A rare group of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. | MONDO: Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis."
+BMGC_DS04870,BMG_DS010096,
+BMGC_DS04871,BMG_DS010102,"ORPHANET: A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (&amp;#946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures."
+BMGC_DS04872,BMG_DS010104,"HPO: Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. [https://orcid.org/0000-0002-0736-9199, PMID:16186440]"
+BMGC_DS04873,BMG_DS010107,"ORPHANET: A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971."
+BMGC_DS04874,BMG_DS010108,"ORPHANET: A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization."
+BMGC_DS04875,BMG_DS010109,"ORPHANET: A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies."
+BMGC_DS04876,BMG_DS010110,"NCI: A bone disorder caused by autosomal recessive mutation(s) of the gene TNFRSF11B, which encodes tumor necrosis factor receptor superfamily member 11B. This condition is characterized by excessive osteoclastic resorption of bone followed by deposition of weak, disorganized woven bone. Clinical characteristics include short stature, enlarged skull, bony deformities, bone pain, warm skin over the affected bone, joint stiffness, headaches, hearing loss, and elevated serum alkaline phosphatase. | MONDO: Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss."
+BMGC_DS04877,BMG_DS010111,"ORPHANET: Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. | MONDO: A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated."
+BMGC_DS04878,BMG_DS010112,
+BMGC_DS04879,BMG_DS010113,MONDO: An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.
+BMGC_DS04880,BMG_DS010114,"MONDO: A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. | MeSH: A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present."
+BMGC_DS04881,BMG_DS010117,
+BMGC_DS04882,BMG_DS010119,"MONDO: A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. | MeSH: Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene."
+BMGC_DS04883,BMG_DS010127,"MONDO: Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. | MeSH: A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS. | MeSH: The genetic defect is in the sodium bicarbonate cotransporter gene SLC4A4 resulting in impaired reabsorption of bicarbonate ions in the proximal renal tubules and bicarbonate-wasting."
+BMGC_DS04884,BMG_DS010128,"MONDO: A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration. | MeSH: Rare autosomal disorder of renal electrolyte transport dysfunctions. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Loss of function mutations in EPITHELIAL SODIUM CHANNELS subunits (autosomal dominant) or MINERALOCORTICOID RECEPTORS (autosomal recessive) cause the disorder. Different mutations in EPITHELIAL SODIUM CHANNELS subunits cause Liddle syndrome. | MeSH: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION."
+BMGC_DS04885,BMG_DS010132,MeSH: A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.
+BMGC_DS04886,BMG_DS010133,
+BMGC_DS04887,BMG_DS010135,ORPHANET: Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. | MONDO: Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
+BMGC_DS04888,BMG_DS010137,"MONDO: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure."
+BMGC_DS04889,BMG_DS010139,"MONDO: Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. | MeSH: An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS."
+BMGC_DS04890,BMG_DS010148,"NCI: An autosomal recessive condition caused by mutation(s) in the QDPR gene, encoding dihydropteridine reductase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. | MONDO: Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. | MeSH: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952)."
+BMGC_DS04891,BMG_DS010149,"NCI: An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia. | MONDO: A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset \"
+BMGC_DS04892,BMG_DS010150,"ORPHANET: Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. | MONDO: Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development."
+BMGC_DS04893,BMG_DS010153,
+BMGC_DS04894,BMG_DS010154,"ORPHANET: A rare, genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA), 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable, ranging from asymptomatic or mild cases presentating with jaundice and vomiting, with subsequent normal development and growth, to more severe cases with manifestions which include intellectual disability, cerebellar ataxia, pellagra, progressive encephalopathy with muscular hypotonia, global developmental delay, stereotyped gestures and/or congenital deafness. | MONDO: Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway."
+BMGC_DS04895,BMG_DS010156,"ORPHANET: A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant. | MONDO: Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria."
+BMGC_DS04896,BMG_DS010157,
+BMGC_DS04897,BMG_DS010159,"MONDO: An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs."
+BMGC_DS04898,BMG_DS010160,
+BMGC_DS04899,BMG_DS010163,"MONDO: Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. | MeSH: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)"
+BMGC_DS04900,BMG_DS010165,"NCI: Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma. | MONDO: Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. | MeSH: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)"
+BMGC_DS04901,BMG_DS010168,"SNOMEDCT_US: A group of tyrosine related oculocutaneous albinism (OCA1) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). The phenotypic spectrum seen in OCA1 is variable. Pigmentation present in the skin, hair and eyes can range from little or none to pigmentation only to the peripheries. Findings of nystagmus, photophobia and reduced visual acuity are often present. The disease is caused by a mutation in the TYR gene located on chromosome 11q14.3 encoding tyrosinase. Mutations in OCA1A and OCA1B lead to a total or partial loss of the catalytic activity of tyrosinase while those in OCA1-MP and OCA1-TS lead to minimal activity or temperature sensitive tyrosinase proteins. The different forms of OCA1 are all transmitted autosomal recessively. | MONDO: Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)."
+BMGC_DS04902,BMG_DS010169,"ORPHANET: A form of oculocutaneous albinism characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. | MONDO: Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm."
+BMGC_DS04903,BMG_DS010174,"ORPHANET: An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. | MONDO: An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia."
+BMGC_DS04904,BMG_DS010179,MONDO: An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.
+BMGC_DS04905,BMG_DS010181,HPO: An increased concentration of urocanic acid in the urine. [https://orcid.org/0000-0002-0736-9199] | MONDO: Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.
+BMGC_DS04906,BMG_DS010188,"ORPHANET: A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported."
+BMGC_DS04907,BMG_DS010189,ORPHANET: A disorder that is characterized by increased glutathione concentration in the plasma and urine. | MONDO: Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.
+BMGC_DS04908,BMG_DS010190,ORPHANET: A very heterogeneous condition characterized by 5-oxoprolinuria. | MONDO: 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
+BMGC_DS04909,BMG_DS010192,"HPO: An increased concentration of proline in the blood. [HPO_CONTRIBUTOR:gcarletti] | MONDO: Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern."
+BMGC_DS04910,BMG_DS010193,"ORPHANET: A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity). | MONDO: Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)."
+BMGC_DS04911,BMG_DS010194,HPO: An increased concentration of hydroxyproline in the blood. [HPO_CONTRIBUTOR:gcarletti]
+BMGC_DS04912,BMG_DS010195,"MONDO: An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. | MeSH: Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY."
+BMGC_DS04913,BMG_DS010199,
+BMGC_DS04914,BMG_DS010200,"NCI: An autosomal recessive disorder caused by mutation(s) in the SLC25A15 gene, encoding mitochondrial ornithine transporter 1. The condition is characterized by failure to thrive, liver dysfunction, psychomotor retardation, encephalopathy and seizures. | MONDO: A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction."
+BMGC_DS04915,BMG_DS010201,"MONDO: Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications. | MeSH: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)"
+BMGC_DS04916,BMG_DS010202,"NCI: An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized by failure to thrive, hyperammonemia, lethargy, seizures, and coma. | MONDO: N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia."
+BMGC_DS04917,BMG_DS010205,"SNOMEDCT_US: A form of citrullinaemia type I characterised clinically by adult onset of symptoms including variable hyperammonaemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur."
+BMGC_DS04918,BMG_DS010206,"MONDO: Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. | MeSH: Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder."
+BMGC_DS04919,BMG_DS010207,"MONDO: Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. | MeSH: A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)"
+BMGC_DS04920,BMG_DS010209,
+BMGC_DS04921,BMG_DS010210,"MONDO: Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present. | MeSH: A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)"
+BMGC_DS04922,BMG_DS010212,"MeSH: A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)"
+BMGC_DS04923,BMG_DS010213,"HPO: Presence of saccharopine in the urine. [PMID:30573525, PMID:32768327, PMID:33996359] | MONDO: Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria."
+BMGC_DS04924,BMG_DS010217,MeSH: An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
+BMGC_DS04925,BMG_DS010218,MeSH: An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
+BMGC_DS04926,BMG_DS010219,HPO: An elevated plasma concentration of sarcosine. [HPO_CONTRIBUTOR:gcarletti] | MONDO: Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.
+BMGC_DS04927,BMG_DS010223,"ORPHANET: Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. | MONDO: Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. | MeSH: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)"
+BMGC_DS04928,BMG_DS010224,"ORPHANET: Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. | MONDO: Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. | MeSH: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)"
+BMGC_DS04929,BMG_DS010227,"HPO: An increased concentration of valine in the blood. [HPO_CONTRIBUTOR:gcarletti] | MONDO: Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal."
+BMGC_DS04930,BMG_DS010228,
+BMGC_DS04931,BMG_DS010229,"MONDO: Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported."
+BMGC_DS04932,BMG_DS010232,"MONDO: Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy."
+BMGC_DS04933,BMG_DS010233,"MONDO: A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death. | MeSH: The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase)."
+BMGC_DS04934,BMG_DS010234,"MONDO: A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease."
+BMGC_DS04935,BMG_DS010238,"NCI: A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia. | MONDO: Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder."
+BMGC_DS04936,BMG_DS010239,"MONDO: A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. | MeSH: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1)."
+BMGC_DS04937,BMG_DS010243,MONDO: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.
+BMGC_DS04938,BMG_DS010244,"NCI: A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma. | MONDO: 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae."
+BMGC_DS04939,BMG_DS010245,
+BMGC_DS04940,BMG_DS010248,"MONDO: Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia."
+BMGC_DS04941,BMG_DS010251,
+BMGC_DS04942,BMG_DS010253,
+BMGC_DS04943,BMG_DS010254,
+BMGC_DS04944,BMG_DS010257,NCI: A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities. | MONDO: Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.
+BMGC_DS04945,BMG_DS010258,
+BMGC_DS04946,BMG_DS010259,"ORPHANET: A rare inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. | MONDO: Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. | MeSH: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)"
+BMGC_DS04947,BMG_DS010260,HPO: Abnormally reduced sulfite oxidase level. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS04948,BMG_DS010261,"ORPHANET: A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease. | MONDO: Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."
+BMGC_DS04949,BMG_DS010263,"HPO: An increased concentration of alanine in the blood. [HPO_CONTRIBUTOR:gcarletti, PMID:16902722, PMID:4696900] | MONDO: Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case."
+BMGC_DS04950,BMG_DS010264,"ORPHANET: A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. | MONDO: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation."
+BMGC_DS04951,BMG_DS010265,"MONDO: Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant."
+BMGC_DS04952,BMG_DS010266,"NCI: A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. | MONDO: A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources."
+BMGC_DS04953,BMG_DS010272,"ORPHANET: A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992."
+BMGC_DS04954,BMG_DS010277,"NCI: A disorder caused by the inability to digest and use lysine, arginine, and ornithine. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. y+L amino acid transporter 1, the product of the SLC7A7 gene, is involved in transporting lysine, arginine, and ornithine between cells in the body. | MONDO: Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism."
+BMGC_DS04955,BMG_DS010282,"ORPHANET: A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive. | MONDO: A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait."
+BMGC_DS04956,BMG_DS010294,
+BMGC_DS04957,BMG_DS010295,
+BMGC_DS04958,BMG_DS010302,
+BMGC_DS04959,BMG_DS010307,"NCI: An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP27B1 gene, encoding 25-hydroxyvitamin D-1 alpha hydroxylase, the renal enzyme that converts 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D (calcitriol), the active metabolite of vitamin D (cholecalciferol). The condition is characterized by reduced serum concentrations of 1 alpha,25-hydroxyvitamin D, normal concentrations of 25-hydroxyvitamin D, increased serum alkaline phosphatase, hypocalcemia due to reduced intestinal calcium absorption, hypophosphatemia due to renal phosphate wasting, secondary hyperparathyroidism, rickets, seizures, muscle weakness and failure to thrive. | MONDO: Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia."
+BMGC_DS04960,BMG_DS010316,NCI: Neuropathy resulting from uremia. | MONDO: Neuropathy resulting from uremia.
+BMGC_DS04961,BMG_DS010328,
+BMGC_DS04962,BMG_DS010333,HPO: Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. [https://orcid.org/0009-0006-4530-3154]
+BMGC_DS04963,BMG_DS010336,
+BMGC_DS04964,BMG_DS010342,"MeSH: Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN."
+BMGC_DS04965,BMG_DS010343,"MONDO: Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. | MeSH: Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN."
+BMGC_DS04966,BMG_DS010347,"HPO: Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS04967,BMG_DS010382,NCI: A non-neoplastic kidney disorder that results from the damage of the renal arteries or veins. It may lead to renal dysfunction and/or hypertension.
+BMGC_DS04968,BMG_DS010391,
+BMGC_DS04969,BMG_DS010402,NCI: Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. | MONDO: Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.
+BMGC_DS04970,BMG_DS010408,
+BMGC_DS04971,BMG_DS010421,NCI: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells. | MONDO: A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells.
+BMGC_DS04972,BMG_DS010424,"MeSH: Symptom of overactive detrusor muscle of the URINARY BLADDER that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. URINARY INCONTINENCE may or may not be present."
+BMGC_DS04973,BMG_DS010531,
+BMGC_DS04974,BMG_DS010545,
+BMGC_DS04975,BMG_DS010551,"NCI: Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. | MONDO: Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy."
+BMGC_DS04976,BMG_DS010553,NCI: Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack. | MONDO: Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack.
+BMGC_DS04977,BMG_DS010555,NCI: Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy. | MONDO: Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.
+BMGC_DS04978,BMG_DS010557,
+BMGC_DS04979,BMG_DS010560,"MONDO: An inflammation of the endometrium and the myometrium. | MeSH: Inflammation of the ENDOMETRIUM, usually caused by intrauterine infections. Endometritis is the most common cause of postpartum fever."
+BMGC_DS04980,BMG_DS010569,NCI: Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation. | MONDO: Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation.
+BMGC_DS04981,BMG_DS010570,NCI: Chronic inflammation of the cervix. | MONDO: Chronic inflammation of the cervix.
+BMGC_DS04982,BMG_DS010605,NCI: A rare condition characterized by the replacement of the epithelium of an organ which is not related to fallopian tube with ectopic fallopian tube-type ciliated epithelium. | MONDO: A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain.
+BMGC_DS04983,BMG_DS010606,HPO: Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix. [https://orcid.org/0000-0002-0736-9199] | MONDO: Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding.
+BMGC_DS04984,BMG_DS010647,"NCI: The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present. | MONDO: The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present."
+BMGC_DS04985,BMG_DS010694,HPO: The presence of nipples that instead of pointing outward are retracted inwards. [https://orcid.org/0009-0006-4530-3154]
+BMGC_DS04986,BMG_DS010821,"MONDO: A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation."
+BMGC_DS04987,BMG_DS010832,"ORPHANET: A rare skin disease characterized by urticarial papules and plaques with severe pruritus mainly on the abdomen, buttocks, and proximal thighs. The condition usually develops during the third trimester of the first pregnancy, although presentation in the postpartum period, which may also feature other types of skin lesions, has been described in some cases. The symptoms generally resolve within few weeks."
+BMGC_DS04988,BMG_DS010900,"NCI: Infection of the endometrium, decidua and/or myometrium occurring at any time between birth and 42 days postpartum."
+BMGC_DS04989,BMG_DS010954,
+BMGC_DS04990,BMG_DS010968,NCI: Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. | MONDO: Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.
+BMGC_DS04991,BMG_DS010972,"ORPHANET: A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death."
+BMGC_DS04992,BMG_DS010980,"MeSH: A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)"
+BMGC_DS04993,BMG_DS011013,MONDO: Urination during sleep. | MeSH: Involuntary discharge of URINE during sleep at night after expected age of completed development of urinary control.
+BMGC_DS04994,BMG_DS011014,
+BMGC_DS04995,BMG_DS011016,"NCI: An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months. | MONDO: An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months."
+BMGC_DS04996,BMG_DS011019,MeSH: Any of various diseases affecting the white matter of the central nervous system.
+BMGC_DS04997,BMG_DS011027,"NCI: A neurologic disorder that is caused by inflammation across both sides of one level, or segment, of the spinal cord. (from NINDS) | MONDO: Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM). | MeSH: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)"
+BMGC_DS04998,BMG_DS011029,"MONDO: Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12) | MeSH: Circumscribed collections of suppurative material occurring in the spinal or intracranial EPIDURAL SPACE. The majority of epidural abscesses occur in the spinal canal and are associated with OSTEOMYELITIS of a vertebral body; ANALGESIA, EPIDURAL; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, URINARY INCONTINENCE, and FECAL INCONTINENCE. Cranial epidural abscesses are usually associated with OSTEOMYELITIS of a cranial bone, SINUSITIS, or OTITIS MEDIA. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)"
+BMGC_DS04999,BMG_DS011034,"MeSH: Formation or presence of a blood clot (THROMBUS) in the CAVERNOUS SINUS of the brain. Infections of the paranasal sinuses and adjacent structures, CRANIOCEREBRAL TRAUMA, and THROMBOPHILIA are associated conditions. Clinical manifestations include dysfunction of cranial nerves III, IV, V, and VI, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)"
+BMGC_DS05000,BMG_DS011035,"MONDO: Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure. | MeSH: Formation or presence of a blood clot (THROMBUS) in the LATERAL SINUSES. This condition is often associated with ear infections (OTITIS MEDIA or MASTOIDITIS) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; NEUROSURGICAL PROCEDURES; THROMBOPHILIA; and other conditions. Clinical features include HEADACHE; VERTIGO; and increased intracranial pressure."
+BMGC_DS05001,BMG_DS011087,"MONDO: Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications."
+BMGC_DS05002,BMG_DS011093,NCI: A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. | MeSH: Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
+BMGC_DS05003,BMG_DS011097,"MeSH: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA."
+BMGC_DS05004,BMG_DS011101,"NCI: A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia. | MeSH: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"
+BMGC_DS05005,BMG_DS011103,"MONDO: Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. | MeSH: Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance."
+BMGC_DS05006,BMG_DS011105,"MONDO: A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements. | MeSH: A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)"
+BMGC_DS05007,BMG_DS011108,"MONDO: A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) | MeSH: A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)"
+BMGC_DS05008,BMG_DS011119,"NCI: Cerebellar ataxia that is transmitted from parent to child. | MONDO: Cerebellar ataxia that is transmitted from parent to child. | MeSH: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked."
+BMGC_DS05009,BMG_DS011124,"MeSH: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked."
+BMGC_DS05010,BMG_DS011132,"NCI: Motor neuron disease that is inherited. | MONDO: An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. | MeSH: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS05011,BMG_DS011133,"MeSH: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS05012,BMG_DS011134,"MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS05013,BMG_DS011148,"MeSH: An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)"
+BMGC_DS05014,BMG_DS011165,"SNOMEDCT_US: A form of spastic cerebral palsy affecting only one limb | MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS05015,BMG_DS011168,"NCI: Paralysis of the nerves located in the legs. | MONDO: Paralysis of the nerves located in the legs. | MeSH: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"
+BMGC_DS05016,BMG_DS011173,"MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS05017,BMG_DS011174,"HPO: Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276064] | MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS05018,BMG_DS011177,"MONDO: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'"
+BMGC_DS05019,BMG_DS011182,"HPO: Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. [https://orcid.org/0000-0002-0736-9199, PMID:28276062, PMID:28276064, PMID:9738682]"
+BMGC_DS05020,BMG_DS011183,
+BMGC_DS05021,BMG_DS011184,"NCI: Prolonged contraction of the muscles, as the result of an epileptic discharge. | MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS05022,BMG_DS011185,"HPO: Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-1735-8178, PMID:11580774]"
+BMGC_DS05023,BMG_DS011186,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS05024,BMG_DS011187,MONDO: An epilepsy syndrome that is located in an area of the brain other than the temporal lobe.
+BMGC_DS05025,BMG_DS011188,"SNOMEDCT_US: A distinct sub-group of genetic generalized epilepsy that includes only four epilepsy syndromes: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. | MONDO: A generalised epilepsy that encompasses several common seizure phenotypes including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. These epilepsy syndromes have polygenic inheritance with or without environmental factors contributing to seizure susceptibility. Seizure types include one or a combination of absence seizures, myoclonic seizures and/or generalized tonic-clonic seizures."
+BMGC_DS05026,BMG_DS011189,
+BMGC_DS05027,BMG_DS011190,"MONDO: Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). | MeSH: A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)"
+BMGC_DS05028,BMG_DS011191,"MeSH: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)"
+BMGC_DS05029,BMG_DS011192,"NCI: A neurologic disorder characterized by frequently recurring myoclonic seizures and other seizure types presenting within the first months of life. | MONDO: A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern."
+BMGC_DS05030,BMG_DS011193,"MONDO: Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy). | MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS05031,BMG_DS011194,"NCI: Paroxysmal episodes of intense, acute periumbilical pain that lasts for one or more hours with intervening periods of usual health lasting weeks to months, with no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the symptoms. The pain interferes with normal activities and is associated with at least two of the following symptoms: anorexia, nausea, vomiting, headache, photophobia, and/or pallor. | MeSH: A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS05032,BMG_DS011196,"NCI: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. | MONDO: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. | MeSH: A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS05033,BMG_DS011198,ORPHANET: A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).
+BMGC_DS05034,BMG_DS011204,"HPO: Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [https://orcid.org/0000-0002-0736-9199] | MeSH: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation."
+BMGC_DS05035,BMG_DS011208,"MeSH: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation."
+BMGC_DS05036,BMG_DS011209,"MeSH: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation."
+BMGC_DS05037,BMG_DS011230,MONDO: A peripheral nerve lesion that involves the common fibular nerve.
+BMGC_DS05038,BMG_DS011232,"NCI: Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination. | MONDO: Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications."
+BMGC_DS05039,BMG_DS011233,"NCI: Charcot-Marie-Tooth disease caused by mutations in the MPZ gene (mapped to chromosome 1q23.3). It results in sensorineural peripheral neuropathy. | MONDO: A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized."
+BMGC_DS05040,BMG_DS011234,"ORPHANET: A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes. | MONDO: Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene."
+BMGC_DS05041,BMG_DS011235,"MONDO: A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. | MeSH: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)"
+BMGC_DS05042,BMG_DS011237,NCI: Any nerve disorder affecting the axon of a nerve.
+BMGC_DS05043,BMG_DS011238,HPO: Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. [https://orcid.org/0000-0002-0736-9199] | MONDO: Polyneuropathy that is characterized by demyelination of axons.
+BMGC_DS05044,BMG_DS011244,"MONDO: A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure. | MeSH: A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)"
+BMGC_DS05045,BMG_DS011259,"MONDO: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness. | MeSH: An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy."
+BMGC_DS05046,BMG_DS011264,"MONDO: A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). | MeSH: Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders."
+BMGC_DS05047,BMG_DS011265,
+BMGC_DS05048,BMG_DS011267,ORPHANET: A rare hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. | MONDO: A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
+BMGC_DS05049,BMG_DS011272,"ORPHANET: A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement."
+BMGC_DS05050,BMG_DS011273,"ORPHANET: Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the &lt;i&gt;alpha-skeletal actin&lt;/i&gt; (&lt;i&gt;ACTA1&lt;/i&gt;) gene may be involved."
+BMGC_DS05051,BMG_DS011274,ORPHANET: Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. | MONDO: Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers.
+BMGC_DS05052,BMG_DS011276,"MONDO: A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. | MeSH: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)"
+BMGC_DS05053,BMG_DS011293,MONDO: A hemosiderosis that involves the camera-type eye.
+BMGC_DS05054,BMG_DS011315,"MONDO: Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision. | MeSH: Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)"
+BMGC_DS05055,BMG_DS011330,"ORPHANET: A rare ophthalmic disorder characterized by 3 stages: vasculitis, occlusion, and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss. | MONDO: Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss."
+BMGC_DS05056,BMG_DS011335,
+BMGC_DS05057,BMG_DS011337,MONDO: Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy.
+BMGC_DS05058,BMG_DS011338,
+BMGC_DS05059,BMG_DS011340,
+BMGC_DS05060,BMG_DS011344,"NCI: A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight. | MeSH: A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis."
+BMGC_DS05061,BMG_DS011345,
+BMGC_DS05062,BMG_DS011346,"NCI: An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision. | MONDO: Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion."
+BMGC_DS05063,BMG_DS011348,"MONDO: A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. | MeSH: Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable."
+BMGC_DS05064,BMG_DS011349,NCI: A non-neoplastic or neoplastic disorder that affects the ciliary body. | MONDO: A disease involving the ciliary body.
+BMGC_DS05065,BMG_DS011368,
+BMGC_DS05066,BMG_DS011369,"MeSH: Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes."
+BMGC_DS05067,BMG_DS011377,MeSH: Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.
+BMGC_DS05068,BMG_DS011378,
+BMGC_DS05069,BMG_DS011381,
+BMGC_DS05070,BMG_DS011383,
+BMGC_DS05071,BMG_DS011389,
+BMGC_DS05072,BMG_DS011391,MONDO: A senile cataract that involves the lens nucleus.
+BMGC_DS05073,BMG_DS011397,"MeSH: Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)"
+BMGC_DS05074,BMG_DS011399,HPO: A severe form of myopia with greater than -6.00 diopters. [HPO_CONTRIBUTOR:DDD_ncarter]
+BMGC_DS05075,BMG_DS011403,NCI: Perception of more than one image when viewing with one eye. | MeSH: A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE.
+BMGC_DS05076,BMG_DS011412,MeSH: The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
+BMGC_DS05077,BMG_DS011428,"MONDO: Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases. | MeSH: A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis."
+BMGC_DS05078,BMG_DS011433,
+BMGC_DS05079,BMG_DS011440,"ORPHANET: Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. | MONDO: Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity."
+BMGC_DS05080,BMG_DS011459,"NCI: A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma. | MONDO: A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma."
+BMGC_DS05081,BMG_DS011462,
+BMGC_DS05082,BMG_DS011471,NCI: A non-neoplastic or neoplastic disorder affecting the oculomotor nerve (third cranial nerve). | MONDO: A disease involving the oculomotor nerve.
+BMGC_DS05083,BMG_DS011472,"MONDO: A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve). | MeSH: Diseases of the sixth cranial (abducens) nerve or its nucleus in the pons. The nerve may be injured along its course in the pons, intracranially as it travels along the base of the brain, in the cavernous sinus, or at the level of superior orbital fissure or orbit. Dysfunction of the nerve causes lateral rectus muscle weakness, resulting in horizontal diplopia that is maximal when the affected eye is abducted and ESOTROPIA. Common conditions associated with nerve injury include INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; ISCHEMIA; and INFRATENTORIAL NEOPLASMS."
+BMGC_DS05084,BMG_DS011484,"MeSH: Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)"
+BMGC_DS05085,BMG_DS011485,"MeSH: Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)"
+BMGC_DS05086,BMG_DS011486,MeSH: Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
+BMGC_DS05087,BMG_DS011488,HPO: Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. [https://orcid.org/0000-0001-5208-3432] | MONDO: A cranial nerve palsy that involves the trochlear nerve.
+BMGC_DS05088,BMG_DS011491,"HPO: Reduced ability to turn the eyes inward in order to focus on a nearby object. [https://orcid.org/0000-0002-0736-9199] | MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS05089,BMG_DS011492,"MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS05090,BMG_DS011493,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05091,BMG_DS011494,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05092,BMG_DS011495,"MONDO: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) | MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05093,BMG_DS011496,"HPO: Nystagmus consisting of horizontal to-and-fro eye movements. [https://orcid.org/0000-0002-0736-9199] | MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05094,BMG_DS011497,"HPO: Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. [https://orcid.org/0000-0002-0736-9199] | MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05095,BMG_DS011498,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05096,BMG_DS011499,"HPO: Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. [https://orcid.org/0000-0002-0736-9199] | MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05097,BMG_DS011500,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05098,BMG_DS011505,"MeSH: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)"
+BMGC_DS05099,BMG_DS011521,MONDO: A disease involving the middle ear.
+BMGC_DS05100,BMG_DS011522,HPO: Acute otitis media is a short and generally painful infection of the middle ear. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS05101,BMG_DS011525,MONDO: Acute form of non-suppurative otitis media.
+BMGC_DS05102,BMG_DS011538,MONDO: A otitis media which involves transudation of fluid in the middle ear without pus formation.
+BMGC_DS05103,BMG_DS011544,"NCI: Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. | MONDO: Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane."
+BMGC_DS05104,BMG_DS011551,NCI: A non-neoplastic or neoplastic polypoid growth in the middle ear. | MONDO: A benign polypoid growth in the middle ear.
+BMGC_DS05105,BMG_DS011611,NCI: Ischemic or hemorrhagic necrosis of the pituitary gland. | MONDO: Ischemic or hemorrhagic necrosis of the pituitary gland.
+BMGC_DS05106,BMG_DS011614,NCI: Abnormally low levels of circulating somatotropin.
+BMGC_DS05107,BMG_DS011618,
+BMGC_DS05108,BMG_DS011619,"MONDO: Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. | MeSH: An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5."
+BMGC_DS05109,BMG_DS011624,"MeSH: A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS."
+BMGC_DS05110,BMG_DS011625,
+BMGC_DS05111,BMG_DS011627,
+BMGC_DS05112,BMG_DS011628,"HPO: Decreased functionality of the female gonads, i.e., of the ovary. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS05113,BMG_DS011631,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.
+BMGC_DS05114,BMG_DS011632,
+BMGC_DS05115,BMG_DS011634,NCI: Subnormal concentration of prolactin.
+BMGC_DS05116,BMG_DS011655,HPO: The onset of puberty before the age of 8 years in girls. [https://orcid.org/0000-0002-0736-9199] | MONDO: A precocious puberty that involves the female organism.
+BMGC_DS05117,BMG_DS011659,NCI: Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. | MONDO: Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.
+BMGC_DS05118,BMG_DS011672,
+BMGC_DS05119,BMG_DS011680,"MONDO: The inability to regulate blood glucose levels resulting in hyperglycemia. | MeSH: A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION."
+BMGC_DS05120,BMG_DS011700,"MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS05121,BMG_DS011701,"MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS05122,BMG_DS011703,MeSH: Disease or injury involving multiple SPINAL NERVE ROOTS. Polyradiculitis refers to inflammation of multiple spinal nerve roots.
+BMGC_DS05123,BMG_DS011704,"MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS05124,BMG_DS011706,"MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS05125,BMG_DS011709,"MONDO: Inflammation or degeneration of the peripheral motor nerves. | MeSH: Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance."
+BMGC_DS05126,BMG_DS011711,"MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS05127,BMG_DS011712,"NCI: Autonomic neuropathy that is caused by diabetes mellitus. | MONDO: Autonomic neuropathy that is caused by diabetes mellitus. | MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS05128,BMG_DS011719,"NCI: Generalized lipodystrophy, the cause of which is not present at birth. | MONDO: Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles)."
+BMGC_DS05129,BMG_DS011720,"MONDO: Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. | MeSH: Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA."
+BMGC_DS05130,BMG_DS011721,"MONDO: Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes). | MeSH: Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death. | MeSH: Rare autosomal recessive syndrome, characterized by a milder set of clinical features with prolonged survival, compared to Donohue syndrome. Mutations in the same INSULIN RECEPTOR, mostly in the non-binding domain, result in Rabson-Mendenhall syndrome (allelic heterogeneity). Clinical features include insulin-resistant DIABETES MELLITUS, often with ACANTHOSIS NIGRICANS; DIABETIC KETOACIDOSIS; HYPERTRICHOSIS; and dysmorphisms."
+BMGC_DS05131,BMG_DS011731,MeSH: A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.
+BMGC_DS05132,BMG_DS011737,
+BMGC_DS05133,BMG_DS011759,"NCI: An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production. | MONDO: Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration."
+BMGC_DS05134,BMG_DS011773,"MONDO: Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms. | MeSH: Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms."
+BMGC_DS05135,BMG_DS011793,"MONDO: Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis."
+BMGC_DS05136,BMG_DS011804,NCI: Abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis.
+BMGC_DS05137,BMG_DS011827,NCI: A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. | MONDO: Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
+BMGC_DS05138,BMG_DS011831,
+BMGC_DS05139,BMG_DS011841,MONDO: An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome.
+BMGC_DS05140,BMG_DS011842,
+BMGC_DS05141,BMG_DS011847,
+BMGC_DS05142,BMG_DS011873,"MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS05143,BMG_DS011885,HPO: A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS05144,BMG_DS011892,"NCI: A state of bone marrow suppression and failure that is caused by a cytotoxic or adverse immunologic response to a drug treatment, leading to a failure of production of red blood cells, white cells and platelets."
+BMGC_DS05145,BMG_DS011914,
+BMGC_DS05146,BMG_DS011915,ORPHANET: Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. | MONDO: Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.
+BMGC_DS05147,BMG_DS011916,"ORPHANET: A rare form of congenital dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia."
+BMGC_DS05148,BMG_DS011950,"HPO: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS05149,BMG_DS011955,"MeSH: A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent."
+BMGC_DS05150,BMG_DS011956,
+BMGC_DS05151,BMG_DS011961,"NCI: A form of beta thalassemia characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. | MONDO: Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis."
+BMGC_DS05152,BMG_DS011966,"MeSH: A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA."
+BMGC_DS05153,BMG_DS011967,
+BMGC_DS05154,BMG_DS011970,ORPHANET: Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. | MONDO: Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.
+BMGC_DS05155,BMG_DS011981,"SNOMEDCT_US: A severe form of alpha-thalassaemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalised oedema, pleural and pericardial effusions, and severe hypochromic anaemia. Caused by deletion or inactivation of all four alpha-globin alleles leading to a severe deficiency in alpha-globin chains of Hb, and to the production of gamma-4 tetramers (Hb Bart's) during fetal life, and beta-4 tetramers (HbH) postnatally. Hb Bart's and HbH have increased oxygen affinity resulting in ineffective tissue oxygen delivery. The disease is mostly the result of combined, biallelic deletions in the HBA1 and HBA2 genes (16p13.3). The pattern of inheritance is autosomal recessive. | MONDO: Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2)."
+BMGC_DS05156,BMG_DS012021,"SNOMEDCT_US: A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant. | MONDO: Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed."
+BMGC_DS05157,BMG_DS012022,"ORPHANET: A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the &lt;i&gt;RHAG&lt;/i&gt; gene), while the amorph type is due to mutations at the &lt;i&gt;RH&lt;/i&gt; locus itself. | MONDO: The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia."
+BMGC_DS05158,BMG_DS012023,
+BMGC_DS05159,BMG_DS012025,"ORPHANET: A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically &lt;10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children."
+BMGC_DS05160,BMG_DS012033,ORPHANET: Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.
+BMGC_DS05161,BMG_DS012035,SNOMEDCT_US: An extremely rare glycogen storage disease with characteristics of haemolytic anaemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without haemolytic anaemia has been reported. | MONDO: Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.
+BMGC_DS05162,BMG_DS012038,
+BMGC_DS05163,BMG_DS012048,"ORPHANET: Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). | MONDO: Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia)."
+BMGC_DS05164,BMG_DS012052,"NCI: A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin D mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease. | MONDO: A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln."
+BMGC_DS05165,BMG_DS012054,NCI: Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. | MONDO: Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present.
+BMGC_DS05166,BMG_DS012092,"NCI: A rare, chronic and relapsing autoimmune disorder of unknown etiology, characterized by the presence of immune thrombocytopenia and autoimmune hemolytic anemia. | MONDO: Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology."
+BMGC_DS05167,BMG_DS012103,
+BMGC_DS05168,BMG_DS012110,
+BMGC_DS05169,BMG_DS012118,NCI: A condition in which the red blood cell level is greater than established reference ranges in a newborn. | MONDO: A condition in which the red blood cell level is greater than established reference ranges in a newborn.
+BMGC_DS05170,BMG_DS012129,ORPHANET: Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. | MONDO: Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.
+BMGC_DS05171,BMG_DS012132,"NCI: A rare, autosomal recessive disorder characterized by exocrine pancreas insufficiency, skeletal abnormalities, bone marrow dysfunction, and an increased incidence of leukemia. | MONDO: Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation."
+BMGC_DS05172,BMG_DS012136,
+BMGC_DS05173,BMG_DS012138,"ORPHANET: A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported. | MONDO: A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported."
+BMGC_DS05174,BMG_DS012140,HPO: A type of agranulocytosis related to ingestion of a specific medication. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS05175,BMG_DS012147,"NCI: A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections. | MONDO: Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections."
+BMGC_DS05176,BMG_DS012151,"MONDO: Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors."
+BMGC_DS05177,BMG_DS012158,MONDO: An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual. | MeSH: A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.
+BMGC_DS05178,BMG_DS012160,"MONDO: A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003"
+BMGC_DS05179,BMG_DS012161,MONDO: Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues.
+BMGC_DS05180,BMG_DS012184,
+BMGC_DS05181,BMG_DS012189,MONDO: A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. | MeSH: A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
+BMGC_DS05182,BMG_DS012190,"HPO: At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia. [https://orcid.org/0000-0002-0736-9199] | MONDO: A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span."
+BMGC_DS05183,BMG_DS012193,"MONDO: A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. | MeSH: Genetic disorders due to mutations in genes involved in COMPLEMENT SYSTEM PROTEINS. They are often classified into distinct pathway of complement activation where causative mutations are found (e.g., classical pathway, lectin pathway, alternative pathway, and terminal complement pathway)."
+BMGC_DS05184,BMG_DS012204,"MONDO: A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion."
+BMGC_DS05185,BMG_DS012231,"NCI: A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. | MONDO: Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis."
+BMGC_DS05186,BMG_DS012232,"NCI: Thrombocytopenia that results from immune destruction of platelets. | MONDO: A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus)."
+BMGC_DS05187,BMG_DS012237,
+BMGC_DS05188,BMG_DS012245,"MONDO: Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. | MeSH: A rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with THROMBOCYTOPENIA, enlarged platelets, and prolonged bleeding time."
+BMGC_DS05189,BMG_DS012256,SNOMEDCT_US: Includes both quantitative and qualitative disorders of procoagulants
+BMGC_DS05190,BMG_DS012258,"MONDO: Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms."
+BMGC_DS05191,BMG_DS012261,"NCI: A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding. | MONDO: Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor."
+BMGC_DS05192,BMG_DS012263,"SNOMEDCT_US: Severe disease manifests factor VIII activity of less than 1%, except in the U.K. and Italy, where severe disease includes factor VIII activity levels of less than 2% | MONDO: Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
+BMGC_DS05193,BMG_DS012264,"SNOMEDCT_US: Moderate disease manifests factor VIII activity of 2% to 5% of normal | MONDO: Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
+BMGC_DS05194,BMG_DS012265,"SNOMEDCT_US: Mild disease manifests factor VIII activity of greater than 5% of normal | MONDO: Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
+BMGC_DS05195,BMG_DS012266,"NCI: An acquired coagulation disorder characterized by the partial or complete absence of factor VIII activity in the blood. | MONDO: An acquired form of hemophilia A, resulting in spontaneous bleeding in individuals with no history of bleeding disorders. It is believed to be caused by spontaneous inhibition of clotting factor VIII by autoantibodies, and is usually associated with other autoimmune conditions."
+BMGC_DS05196,BMG_DS012267,"NCI: A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding. | MONDO: Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms."
+BMGC_DS05197,BMG_DS012276,"NCI: A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. | MONDO: A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease."
+BMGC_DS05198,BMG_DS012277,NCI: A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. | MONDO: A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.
+BMGC_DS05199,BMG_DS012286,MONDO: Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
+BMGC_DS05200,BMG_DS012294,"ORPHANET: A rare bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. | MONDO: Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies."
+BMGC_DS05201,BMG_DS012303,
+BMGC_DS05202,BMG_DS012305,"MONDO: A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins). | MeSH: An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis."
+BMGC_DS05203,BMG_DS012318,NCI: A non-neoplastic or neoplastic disorder that affects the lymph nodes. | MONDO: Any disorder of the lymph nodes.
+BMGC_DS05204,BMG_DS012329,
+BMGC_DS05205,BMG_DS012332,HPO: A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. [PMID:21319348] | MONDO: An abscess that is located in the spleen.
+BMGC_DS05206,BMG_DS012428,
+BMGC_DS05207,BMG_DS012449,
+BMGC_DS05208,BMG_DS012454,
+BMGC_DS05209,BMG_DS012455,
+BMGC_DS05210,BMG_DS012458,
+BMGC_DS05211,BMG_DS012468,MeSH: Infections with bacteria of the genus NOCARDIA.
+BMGC_DS05212,BMG_DS012471,MeSH: Infections with bacteria of the genus NOCARDIA.
+BMGC_DS05213,BMG_DS012522,
+BMGC_DS05214,BMG_DS012524,MONDO: Acute form of gonococcal salpingitis.
+BMGC_DS05215,BMG_DS012532,
+BMGC_DS05216,BMG_DS012598,MONDO: Any disease caused by infection with by Bordetella parapertussis. The symptoms are similar but less severe than Bordetella pertussis whooping cough.
+BMGC_DS05217,BMG_DS012611,
+BMGC_DS05218,BMG_DS012627,
+BMGC_DS05219,BMG_DS012637,
+BMGC_DS05220,BMG_DS012638,
+BMGC_DS05221,BMG_DS012647,
+BMGC_DS05222,BMG_DS012682,NCI: Latent syphilis when infection was acquired less than twelve months previously.
+BMGC_DS05223,BMG_DS012784,
+BMGC_DS05224,BMG_DS012800,
+BMGC_DS05225,BMG_DS012803,"NCI: A gastrointestinal infection attributed to the bacteria campylobacter. It is usually contracted by consuming raw or undercooked poultry or consuming a food that has been in contact with raw poultry. It is characterized by abdominal pain, fever, and diarrhea and usually resolves in two to five days."
+BMGC_DS05226,BMG_DS012809,
+BMGC_DS05227,BMG_DS012813,"NCI: Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly. | MONDO: Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly."
+BMGC_DS05228,BMG_DS012819,
+BMGC_DS05229,BMG_DS012836,
+BMGC_DS05230,BMG_DS012837,
+BMGC_DS05231,BMG_DS012867,
+BMGC_DS05232,BMG_DS012873,
+BMGC_DS05233,BMG_DS012875,
+BMGC_DS05234,BMG_DS012881,
+BMGC_DS05235,BMG_DS012883,
+BMGC_DS05236,BMG_DS012884,
+BMGC_DS05237,BMG_DS012923,NCI: Myocarditis that is caused by an infection with a viral agent. | MONDO: Myocarditis that is caused by an infection with a viral agent.
+BMGC_DS05238,BMG_DS012960,"MONDO: An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks."
+BMGC_DS05239,BMG_DS012997,
+BMGC_DS05240,BMG_DS013000,"MONDO: Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness."
+BMGC_DS05241,BMG_DS013002,
+BMGC_DS05242,BMG_DS013030,"HPO: Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. [HPO_CONTRIBUTOR:ucbasharo]"
+BMGC_DS05243,BMG_DS013052,"MONDO: Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy. | MeSH: A viral disease transmitted by the bite of AEDES mosquitoes infected with ZIKA VIRUS. Its mild DENGUE-like symptoms include fever, rash, headaches and ARTHRALGIA. The viral infection during pregnancy, in rare cases, is associated with congenital brain and ocular abnormalities, called Congenital Zika Syndrome, including MICROCEPHALY and may also lead to GUILLAIN-BARRE SYNDROME."
+BMGC_DS05244,BMG_DS013106,
+BMGC_DS05245,BMG_DS013213,"ORPHANET: Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. | MONDO: A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner."
+BMGC_DS05246,BMG_DS013215,
+BMGC_DS05247,BMG_DS013266,
+BMGC_DS05248,BMG_DS013285,NCI: Evidence of chronic viral hepatitis B without delta-agent.
+BMGC_DS05249,BMG_DS013317,MONDO: An endocarditis (disease) caused by infection with Fungi.
+BMGC_DS05250,BMG_DS013322,"MeSH: Lung infections with the invasive forms of ASPERGILLUS, usually after surgery, transplantation, prolonged NEUTROPENIA or treatment with high-doses of CORTICOSTEROIDS. Invasive pulmonary aspergillosis can progress to CHRONIC NECROTIZING PULMONARY ASPERGILLOSIS or hematogenous spread to other organs."
+BMGC_DS05251,BMG_DS013333,
+BMGC_DS05252,BMG_DS013345,NCI: A fungal infection by any of the Candida species in a newborn infant up to 28 days old. | MONDO: A fungal infection by any of the Candida species in a newborn infant up to 28 days old.
+BMGC_DS05253,BMG_DS013349,"NCI: Fungal pneumonia caused by inhalation of particles of Cryptococcus. It usually occurs in immunocompromised patients such as persons with AIDS, transplant recipients, patients receiving cytotoxic chemotherapy, and patients with hematologic malignancies. It is rare in immunocompetent individuals. Signs and symptoms include fever, cough, and dyspnea."
+BMGC_DS05254,BMG_DS013384,
+BMGC_DS05255,BMG_DS013386,
+BMGC_DS05256,BMG_DS013401,"MONDO: A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy. | MeSH: An inflammatory manifestation of tinea capitis with a pronounced swelling that develops into suppurative central and indurated peripheral area called kerion."
+BMGC_DS05257,BMG_DS013413,
+BMGC_DS05258,BMG_DS013414,
+BMGC_DS05259,BMG_DS013417,"MONDO: Fusariosis describes a superficial, locally invasive, disseminated infection with the pathogenic fungus species, Fusarium, often found in soil and water, which is mainly transmitted to humans through traumatic inoculation and that manifests with keratitis, onychomycosis and less frequently peritonitis and cellulitis. In the immunocompromised, disseminated fusariosis is more common and it manifests with refractory fever, skin lesions (ecthyma-like, target, and multiple subcutaneous nodules), severe myalgias and sino-pulmonary infections. | MeSH: OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections."
+BMGC_DS05260,BMG_DS013471,
+BMGC_DS05261,BMG_DS013556,"MeSH: A human disease caused by the infection of parasitic worms SCHISTOSOMA HAEMATOBIUM. It is endemic in AFRICA and parts of the MIDDLE EAST. Tissue damages most often occur in the URINARY TRACT, specifically the URINARY BLADDER."
+BMGC_DS05262,BMG_DS013562,MONDO: An disease or disorder caused by infection with Schistosoma intercalatum.
+BMGC_DS05263,BMG_DS013625,MeSH: Infection with flukes of the genus Opisthorchis.
+BMGC_DS05264,BMG_DS013626,"NCI: An infection caused by the parasite Opisthorchis viverrini. It results from the ingestion of raw or undercooked food. The clinical features vary from mild to severe and include gastrointestinal symptoms, anorexia, weight loss, hepatomegaly, and cholangitis. Patients are at an increased risk of developing cholangiocarcinoma. | MeSH: Infection with flukes of the genus Opisthorchis."
+BMGC_DS05265,BMG_DS013736,
+BMGC_DS05266,BMG_DS013753,"NCI: An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. | MONDO: An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses."
+BMGC_DS05267,BMG_DS013922,
+BMGC_DS05268,BMG_DS013942,MeSH: Parasitic attack by members of the order SIPHONAPTERA.
+BMGC_DS05269,BMG_DS014094,NCI: A viral or bacterial infectious process affecting the large intestine. | MONDO: A viral or bacterial infectious process affecting the large intestine.
+BMGC_DS05270,BMG_DS014095,
+BMGC_DS05271,BMG_DS014098,
+BMGC_DS05272,BMG_DS014143,"MeSH: Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body."
+BMGC_DS05273,BMG_DS014153,"HPO: Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. [https://orcid.org/0000-0003-2958-5076]"
+BMGC_DS05274,BMG_DS014164,"ORPHANET: A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures. | MONDO: A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures. | MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS05275,BMG_DS014168,"MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS05276,BMG_DS014176,NCI: A medulloblastoma occurring in children. | MONDO: A medulloblastoma occurring in children.
+BMGC_DS05277,BMG_DS014177,NCI: Osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites. | MONDO: A non-disseminated osteosarcoma.
+BMGC_DS05278,BMG_DS014178,NCI: Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood. | MONDO: Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.
+BMGC_DS05279,BMG_DS014179,"MONDO: A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones."
+BMGC_DS05280,BMG_DS014180,NCI: An ependymoma that arises from the infratentorial region of the brain and occurs during childhood. | MONDO: An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.
+BMGC_DS05281,BMG_DS014181,"NCI: A glioma that arises from the brain stem and occurs during childhood. | MONDO: An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life."
+BMGC_DS05282,BMG_DS014182,"MONDO: An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma. | MeSH: Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells."
+BMGC_DS05283,BMG_DS014183,"MONDO: A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma."
+BMGC_DS05284,BMG_DS014184,"MONDO: A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients."
+BMGC_DS05285,BMG_DS014185,NCI: A plasma cell neoplasm that is resistant to treatment. | MONDO: A plasma cell neoplasm that is resistant to treatment.
+BMGC_DS05286,BMG_DS014186,MONDO: A malignant peripheral nerve sheath tumor occurring during adulthood.
+BMGC_DS05287,BMG_DS014187,"NCI: An ependymoma, not otherwise specified that arises from the supratentorial region of the brain and occurs during childhood. | MONDO: An ependymoma that arises from the supratentorial region of the brain and occurs during childhood."
+BMGC_DS05288,BMG_DS014188,NCI: A glioma that arises from the visual pathway and occurs during childhood. | MONDO: A glioma affecting the optic tract and occurring in childhood.
+BMGC_DS05289,BMG_DS014189,"HPO: An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia. [NCIT:C4004, PMID:15621988, PMID:28569272] | MONDO: A carcinoma that arises from glandular epithelial cells of the stomach"
+BMGC_DS05290,BMG_DS014191,NCI: Retinoblastoma restricted to local involvement. | MONDO: Retinoblastoma restricted to local involvement.
+BMGC_DS05291,BMG_DS014192,"NCI: Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow. | MONDO: Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow."
+BMGC_DS05292,BMG_DS014193,NCI: A malignant mesothelioma that has spread beyond its original site of growth.
+BMGC_DS05293,BMG_DS014194,NCI: A germ cell tumor of the central nervous system occurring in children. | MONDO: A germ cell tumor of the central nervous system occurring in children.
+BMGC_DS05294,BMG_DS014195,NCI: The reemergence of gestational trophoblastic tumor after a period of remission.
+BMGC_DS05295,BMG_DS014196,HPO: A malignant epithelial tumor with a glandular organization that originates in the small intestine. [] | MONDO: An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.
+BMGC_DS05296,BMG_DS014197,HPO: A malignant epithelial tumor with a glandular organization that originates in the duodenum. [https://orcid.org/0000-0002-0736-9199] | MONDO: A carcinoma that arises from glandular epithelial cells of the duodenum.
+BMGC_DS05297,BMG_DS014198,NCI: A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine. | MONDO: A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine.
+BMGC_DS05298,BMG_DS014199,NCI: A malignant neoplasm that arises from the gallbladder and it has not spread to other anatomic sites.
+BMGC_DS05299,BMG_DS014200,NCI: A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues. | MONDO: A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues.
+BMGC_DS05300,BMG_DS014201,NCI: A morphologically malignant thymoma that is entirely confined within the capsule. | MONDO: A morphologically malignant thymoma that is entirely confined within the capsule.
+BMGC_DS05301,BMG_DS014204,MONDO: An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly.
+BMGC_DS05302,BMG_DS014205,NCI: Ciliary body and choroid melanoma measuring less than 10 mm in greatest diameter.
+BMGC_DS05303,BMG_DS014206,NCI: Ciliary body and choroid melanoma measuring between 2.5 mm and 10 mm in height and 16 mm or less in basal diameter (medium-sized) or more than 10 mm in height or more than 2 mm in height and more than 16 mm in basal diameter or more than 8 mm in height with optic nerve involvement (large-sized). (Collaborative Ocular Melanoma Study)
+BMGC_DS05304,BMG_DS014208,NCI: A brain stem glioma that occurs during adulthood. | MONDO: A brain stem glioma that occurs in an adult.
+BMGC_DS05305,BMG_DS014209,"NCI: A medulloblastoma occurring in adults. | MONDO: A medulloblastoma arising from the brain, occurring in adults."
+BMGC_DS05306,BMG_DS014210,NCI: A glioblastoma occurring in adults.
+BMGC_DS05307,BMG_DS014211,"NCI: A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. | MONDO: A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain."
+BMGC_DS05308,BMG_DS014212,"MONDO: An osteosarcoma arising from the soft tissue, and occurring in adults."
+BMGC_DS05309,BMG_DS014213,"MONDO: A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma."
+BMGC_DS05310,BMG_DS014214,NCI: A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma. | MONDO: A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma.
+BMGC_DS05311,BMG_DS014215,NCI: A germ cell tumor that occurs during childhood. | MONDO: A germ cell tumor that occurs during childhood.
+BMGC_DS05312,BMG_DS014216,"NCI: Lymphomatoid granulomatosis characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. | MONDO: A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen."
+BMGC_DS05313,BMG_DS014218,MONDO: An oligodendroglioma occurring during adulthood.
+BMGC_DS05314,BMG_DS014220,NCI: A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous cells. | MONDO: A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium.
+BMGC_DS05315,BMG_DS014222,"MONDO: A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival."
+BMGC_DS05316,BMG_DS014223,
+BMGC_DS05317,BMG_DS014224,MONDO: An epithelioid sarcoma occurring in adults.
+BMGC_DS05318,BMG_DS014225,MONDO: A malignant hemangiopericytoma occurring in the adult population.
+BMGC_DS05319,BMG_DS014226,MONDO: A malignant mesenchymoma occurring in adults.
+BMGC_DS05320,BMG_DS014227,NCI: An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells. | MONDO: An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.
+BMGC_DS05321,BMG_DS014229,"NCI: An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures. | MONDO: An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures."
+BMGC_DS05322,BMG_DS014232,NCI: A T-acute lymphoblastic leukemia occurring in adults. | MONDO: An acute T-lymphoblastic leukemia occurring in adults.
+BMGC_DS05323,BMG_DS014234,MONDO: A conventional osteosarcoma characterized by the presence of spindle shaped cells.
+BMGC_DS05324,BMG_DS014235,NCI: An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation. | MONDO: An osteosarcoma characterized by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.
+BMGC_DS05325,BMG_DS014236,"ORPHANET: A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases). | MONDO: Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age."
+BMGC_DS05326,BMG_DS014237,"ORPHANET: A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis. | MONDO: Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure."
+BMGC_DS05327,BMG_DS014238,NCI: Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. | MONDO: Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.
+BMGC_DS05328,BMG_DS014239,NCI: Wilms tumor of the kidney characterized by the predominance of the blastema component. | MONDO: Wilms tumor of the kidney characterized by the predominance of the blastema component.
+BMGC_DS05329,BMG_DS014240,NCI: Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. | MONDO: Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.
+BMGC_DS05330,BMG_DS014241,"NCI: Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). | MONDO: Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern)."
+BMGC_DS05331,BMG_DS014242,
+BMGC_DS05332,BMG_DS014243,"NCI: A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. | MONDO: A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells."
+BMGC_DS05333,BMG_DS014244,MONDO: An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.
+BMGC_DS05334,BMG_DS014245,"MONDO: Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third. | MeSH: A carcinoma that originates usually from cells on the surface of the middle and lower third of the ESOPHAGUS. Tumor cells exhibit typical squamous morphology and form large polypoid lesions. Mutations in RNF6, LZTS1, TGFBR2, DEC1, and WWOX1 genes are associated with this cancer."
+BMGC_DS05335,BMG_DS014246,"ORPHANET: Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach. | MONDO: A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor."
+BMGC_DS05336,BMG_DS014248,"NCI: An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration. | MONDO: An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration."
+BMGC_DS05337,BMG_DS014249,MONDO: A carcinoma that arises from epithelial cells of the anus
+BMGC_DS05338,BMG_DS014250,MONDO: An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.
+BMGC_DS05339,BMG_DS014252,MONDO: A carcinoma that arises from glandular epithelial cells of the gall bladder.
+BMGC_DS05340,BMG_DS014253,MONDO: An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.
+BMGC_DS05341,BMG_DS014255,NCI: An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population. | MONDO: An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population.
+BMGC_DS05342,BMG_DS014256,MONDO: A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells.
+BMGC_DS05343,BMG_DS014257,MONDO: A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct
+BMGC_DS05344,BMG_DS014258,"SNOMEDCT_US: A very rare malignant epithelial tumor of the pancreas characterized, macroscopically by a usually large well-circumscribed fully or partially encapsulated solid mass often with hemorrhage, necrosis and cystic changes in any portion of the pancreas. Histological characteristics are neoplastic cells with variable degrees of differentiation and morphology ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or less commonly jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported. | MONDO: An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis."
+BMGC_DS05345,BMG_DS014259,"MONDO: A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features."
+BMGC_DS05346,BMG_DS014260,MONDO: An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.
+BMGC_DS05347,BMG_DS014261,MONDO: A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures.
+BMGC_DS05348,BMG_DS014263,"MONDO: A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis."
+BMGC_DS05349,BMG_DS014264,"MONDO: An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type."
+BMGC_DS05350,BMG_DS014265,NCI: A small cell neuroendocrine carcinoma arising from the cervix. | MONDO: A small cell carcinoma arising from the cervix.
+BMGC_DS05351,BMG_DS014266,HPO: The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. [https://orcid.org/0000-0002-0736-9199] | MONDO: The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.
+BMGC_DS05352,BMG_DS014267,"MONDO: A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming."
+BMGC_DS05353,BMG_DS014268,MONDO: A carcinoma that arises from glandular epithelial cells of the urinary bladder
+BMGC_DS05354,BMG_DS014270,NCI: Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. | MONDO: Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.
+BMGC_DS05355,BMG_DS014271,NCI: A uveal melanoma characterized by the presence of tumor cell necrosis. | MONDO: A uveal melanoma characterized by the presence of tumor cell necrosis.
+BMGC_DS05356,BMG_DS014272,"MONDO: A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course."
+BMGC_DS05357,BMG_DS014274,NCI: A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm. | MONDO: A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm.
+BMGC_DS05358,BMG_DS014275,"NCI: A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells). | MONDO: A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells)."
+BMGC_DS05359,BMG_DS014276,NCI: A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. | MONDO: A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.
+BMGC_DS05360,BMG_DS014277,"MONDO: Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases."
+BMGC_DS05361,BMG_DS014278,"NCI: A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection. | MONDO: A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection."
+BMGC_DS05362,BMG_DS014279,"NCI: A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. | MONDO: A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize."
+BMGC_DS05363,BMG_DS014280,"MONDO: A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation."
+BMGC_DS05364,BMG_DS014284,NCI: An endometrioid adenocarcinoma of the endometrium showing squamous differentiation.
+BMGC_DS05365,BMG_DS014285,MONDO: A clear cell adenocarcinoma that involves the endometrium.
+BMGC_DS05366,BMG_DS014286,NCI: The reemergence of hairy cell leukemia after a period of remission.
+BMGC_DS05367,BMG_DS014287,NCI: A primary or metastatic malignant neoplasm involving the anterior portion of the urethra. | MONDO: A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body.
+BMGC_DS05368,BMG_DS014288,NCI: A malignant neoplasm that affects the portion of the urethra that is close to the bladder. | MONDO: A malignant neoplasm that affects the portion of the urethra that is close to the bladder.
+BMGC_DS05369,BMG_DS014289,"NCI: A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy. | MONDO: A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy."
+BMGC_DS05370,BMG_DS014290,MONDO: A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
+BMGC_DS05371,BMG_DS014291,MONDO: A malignant hemangiopericytoma occurring in childhood.
+BMGC_DS05372,BMG_DS014292,"MONDO: A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma."
+BMGC_DS05373,BMG_DS014293,
+BMGC_DS05374,BMG_DS014294,MONDO: A malignant peripheral nerve sheath tumor occurring in children.
+BMGC_DS05375,BMG_DS014295,MONDO: An angiosarcoma occurring in childhood.
+BMGC_DS05376,BMG_DS014296,MONDO: An epithelioid sarcoma occurring in childhood.
+BMGC_DS05377,BMG_DS014297,MONDO: A malignant mesenchymoma occurring in children.
+BMGC_DS05378,BMG_DS014299,"HPO: A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. [https://orcid.org/0000-0002-0736-9199, PMID:21043816, PMID:24179657] | MONDO: A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis."
+BMGC_DS05379,BMG_DS014300,"HPO: The presence of a teratoma in the ovary. [https://orcid.org/0000-0002-0736-9199] | MONDO: A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor."
+BMGC_DS05380,BMG_DS014301,MONDO: A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.
+BMGC_DS05381,BMG_DS014302,MONDO: An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.
+BMGC_DS05382,BMG_DS014303,NCI: A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage. | MONDO: A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.
+BMGC_DS05383,BMG_DS014307,"ORPHANET: A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location. | MONDO: A squamous cell carcinoma that involves the lip."
+BMGC_DS05384,BMG_DS014311,HPO: A squamous cell carcinoma that originates in the oropharnyx. [https://orcid.org/0000-0002-0736-9199] | MONDO: A squamous cell carcinoma that involves the oropharynx.
+BMGC_DS05385,BMG_DS014313,"ORPHANET: A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms. | MONDO: A squamous cell carcinoma that involves the hypopharynx."
+BMGC_DS05386,BMG_DS014314,"ORPHANET: A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the supraglottis or glottis. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with hoarseness, dyspnea, stridor, dysphagia, hemoptysis, or odynophagia. | MONDO: A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx."
+BMGC_DS05387,BMG_DS014315,"NCI: A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom. | MONDO: A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom."
+BMGC_DS05388,BMG_DS014316,"NCI: A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland. | MONDO: A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland."
+BMGC_DS05389,BMG_DS014317,"MONDO: A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction."
+BMGC_DS05390,BMG_DS014318,"NCI: An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness. | MONDO: An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness."
+BMGC_DS05391,BMG_DS014319,"NCI: An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx. | MONDO: An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx."
+BMGC_DS05392,BMG_DS014320,"NCI: An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx. | MONDO: An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx."
+BMGC_DS05393,BMG_DS014321,"NCI: A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group. | MONDO: A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group."
+BMGC_DS05394,BMG_DS014322,"NCI: A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass. | MONDO: A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass."
+BMGC_DS05395,BMG_DS014323,"NCI: A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. | MONDO: A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis."
+BMGC_DS05396,BMG_DS014324,"NCI: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas. | MONDO: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas."
+BMGC_DS05397,BMG_DS014325,NCI: An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading. | MONDO: An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading.
+BMGC_DS05398,BMG_DS014326,NCI: An oligodendroglioma that arises from the central nervous system and occurs during childhood. | MONDO: An oligodendroglioma that arises from the central nervous system and occurs during childhood.
+BMGC_DS05399,BMG_DS014327,NCI: A neoplasm that arises from the choroid plexus in the brain and occurs during childhood. | MONDO: A neoplasm that arises from the choroid plexus in the brain and occurs during childhood.
+BMGC_DS05400,BMG_DS014328,"NCI: A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. | MONDO: A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma."
+BMGC_DS05401,BMG_DS014329,"HPO: The presence of a leiomyosarcoma of the uterus. [https://orcid.org/0000-0002-0736-9199] | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS05402,BMG_DS014331,NCI: A meningioma that occurs during childhood. | MONDO: A meningioma that occurs during childhood.
+BMGC_DS05403,BMG_DS014332,NCI: A cholangiocarcinoma occurring in adults.
+BMGC_DS05404,BMG_DS014333,"NCI: A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor. | MONDO: A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor."
+BMGC_DS05405,BMG_DS014334,NCI: A pilocytic astrocytoma that occurs during adolescence. | MONDO: A pilocytic astrocytoma that occurs during adolescence.
+BMGC_DS05406,BMG_DS014336,NCI: An anaplastic ependymoma occurring in adults. | MONDO: An anaplastic ependymoma occurring in adults.
+BMGC_DS05407,BMG_DS014337,"ORPHANET: A rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking. | MONDO: Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking."
+BMGC_DS05408,BMG_DS014338,NCI: A tumor of mixed cell type with astrocytic components as well as ependymoma components. | MONDO: A tumor of mixed cell type with astrocytic components as well as ependymoma components.
+BMGC_DS05409,BMG_DS014339,"NCI: A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components. | MONDO: A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components."
+BMGC_DS05410,BMG_DS014340,NCI: A central nervous system tumor with morphological features of oligoastrocytoma in which there is insufficient information on the IDH genes status.
+BMGC_DS05411,BMG_DS014341,MONDO: A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.
+BMGC_DS05412,BMG_DS014342,MONDO: A astrocytoma that involves the pineal body.
+BMGC_DS05413,BMG_DS014343,NCI: A germ cell tumor of the central nervous system occurring in adults. | MONDO: A germ cell tumor of the central nervous system occurring in adults.
+BMGC_DS05414,BMG_DS014345,"HPO: A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. [PMID:23696924] | MONDO: A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis."
+BMGC_DS05415,BMG_DS014346,"HPO: A cancer that originates in the squamous cells that line the surface of the vulva. [https://orcid.org/0000-0002-0736-9199, PMID:25848321] | MONDO: An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003)"
+BMGC_DS05416,BMG_DS014349,NCI: Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner. | MONDO: Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner.
+BMGC_DS05417,BMG_DS014350,NCI: An infiltrating astrocytic tumor of the brain occurring in adults.
+BMGC_DS05418,BMG_DS014351,"NCI: An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. | MONDO: An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults."
+BMGC_DS05419,BMG_DS014352,NCI: A pineoblastoma occurring in adults. | MONDO: A pineoblastoma occurring in adults.
+BMGC_DS05420,BMG_DS014353,NCI: A papillary meningioma occurring in adults. | MONDO: A papillary meningioma occurring in adults.
+BMGC_DS05421,BMG_DS014354,HPO: The presence of an adenocarcinoma of the pancreas. [https://orcid.org/0000-0002-0736-9199] | MONDO: A carcinoma that arises from glandular epithelial cells of the pancreas
+BMGC_DS05422,BMG_DS014356,"MONDO: Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. | MeSH: A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen."
+BMGC_DS05423,BMG_DS014357,"MONDO: A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters."
+BMGC_DS05424,BMG_DS014377,"SNOMEDCT_US: A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues. | MONDO: A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature."
+BMGC_DS05425,BMG_DS014378,NCI: A term used for any state of depression that is not psychotic. | MONDO: A term used for any state of depression that is not psychotic.
+BMGC_DS05426,BMG_DS014379,"NCI: Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation. | MONDO: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies."
+BMGC_DS05427,BMG_DS014381,"MeSH: An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)"
+BMGC_DS05428,BMG_DS014383,"MONDO: Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation. | MeSH: A nonfamilial polyposis syndrome that is characterized by the presence of diffuse gastrointestinal polyposis, skin hyperpigmentation, ALOPECIA; DIARRHEA, and PROTEIN-LOSING ENTEROPATHY. It was first reported by Cronkhite and Canada in 1955."
+BMGC_DS05429,BMG_DS014384,"MeSH: An outdated term for Tay-Sachs disease. | MeSH: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry."
+BMGC_DS05430,BMG_DS014387,"MONDO: A plague in which the bacteria have infected the lymphatic system. | MeSH: An acute infectious disease caused by YERSINIA PESTIS that affects humans, wild rodents, and their ectoparasites. This condition persists due to its firm entrenchment in sylvatic rodent-flea ecosystems throughout the world. Bubonic plague is the most common form."
+BMGC_DS05431,BMG_DS014388,"MONDO: A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. | MeSH: A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency."
+BMGC_DS05432,BMG_DS014389,"MONDO: Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. | MeSH: A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of LIVEDO RETICULARIS, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60). Mutations in the CECR1 gene (ADA2 protein, human) are associated with Sneddon syndrome."
+BMGC_DS05433,BMG_DS014390,"MeSH: A polysymptomatic condition believed by clinical ecologists to result from immune dysregulation induced by common foods, allergens, and chemicals, resulting in various physical and mental disorders. The medical community has remained largely skeptical of the existence of this disease, given the plethora of symptoms attributed to environmental illness, the lack of reproducible laboratory abnormalities, and the use of unproven therapies to treat the condition. (From Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS05434,BMG_DS014391,"MONDO: Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. | MeSH: A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence (EPILEPSY, ABSENCE), complex partial (EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA. (From Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495)."
+BMGC_DS05435,BMG_DS014392,"MONDO: Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA). | MeSH: A progressive form of dementia characterized by the global loss of language abilities and initial preservation of other cognitive functions. Fluent and nonfluent subtypes have been described. Eventually a pattern of global cognitive dysfunction, similar to ALZHEIMER DISEASE, emerges. Pathologically, there are no Alzheimer or PICK DISEASE like changes, however, spongiform changes of cortical layers II and III are present in the TEMPORAL LOBE and FRONTAL LOBE. (From Brain 1998 Jan;121(Pt 1):115-26)"
+BMGC_DS05436,BMG_DS014393,"NCI: A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. | MeSH: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders."
+BMGC_DS05437,BMG_DS014394,"NCI: A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and hepatomegaly. | MeSH: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders."
+BMGC_DS05438,BMG_DS014395,"MONDO: OBSOLETE. Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD). | MeSH: An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES."
+BMGC_DS05439,BMG_DS014396,"MONDO: A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia. | MeSH: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders."
+BMGC_DS05440,BMG_DS014397,"MONDO: Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. | MeSH: An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)"
+BMGC_DS05441,BMG_DS014398,MONDO: A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates. | MeSH: Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs.
+BMGC_DS05442,BMG_DS014399,"MONDO: Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8) | MeSH: Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8)"
+BMGC_DS05443,BMG_DS014400,"MONDO: Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. | MeSH: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation."
+BMGC_DS05444,BMG_DS014401,"MONDO: A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle."
+BMGC_DS05445,BMG_DS014402,"MONDO: A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. | MeSH: Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA."
+BMGC_DS05446,BMG_DS014403,"MONDO: Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). | MeSH: Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic."
+BMGC_DS05447,BMG_DS014406,"MeSH: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY."
+BMGC_DS05448,BMG_DS014407,"MeSH: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY."
+BMGC_DS05449,BMG_DS014410,"MONDO: A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. | MeSH: A highly fatal, acute hemorrhagic fever caused by EBOLAVIRUS."
+BMGC_DS05450,BMG_DS014411,"MeSH: Infection in humans and animals caused by fungi in the class Zygomycetes. It includes MUCORMYCOSIS and entomophthoramycosis. The latter is a tropical infection of subcutaneous tissue or paranasal sinuses caused by fungi in the order Entomophthorales. Phycomycosis, closely related to zygomycosis, describes infection with members of Phycomycetes, an obsolete classification."
+BMGC_DS05451,BMG_DS014413,
+BMGC_DS05452,BMG_DS014414,NCI: A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine. | MONDO: Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.
+BMGC_DS05453,BMG_DS014423,NCI: An adenocarcinoma characterized by the presence of a trabecular glandular architectural pattern. | MONDO: A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern.
+BMGC_DS05454,BMG_DS014426,NCI: A radiologic finding indicating the presence of bone destruction that results from the spread of cancer to the bone(s). | MONDO: Dissolution of bone that particularly involves the removal or loss of calcium.
+BMGC_DS05455,BMG_DS014427,"NCI: A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. -- 2003 | MONDO: A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. | MeSH: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS."
+BMGC_DS05456,BMG_DS014428,"MONDO: Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults. | MeSH: A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis."
+BMGC_DS05457,BMG_DS014429,NCI: A rare sarcoma arising from the meninges. | MONDO: A rare sarcoma arising from the meninges.
+BMGC_DS05458,BMG_DS014433,"MONDO: A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain."
+BMGC_DS05459,BMG_DS014434,"MONDO: A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia. | MeSH: A disease of cattle caused by bacteria of the genus BRUCELLA leading to abortion in late pregnancy. BRUCELLA ABORTUS is the primary infective agent."
+BMGC_DS05460,BMG_DS014436,"MeSH: An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)"
+BMGC_DS05461,BMG_DS014441,"NCI: A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are squamous cell carcinoma and adenocarcinoma. | MONDO: A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma."
+BMGC_DS05462,BMG_DS014442,"HPO: Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. [https://orcid.org/0000-0002-0736-9199, PMID:18825677] | MeSH: Extensive and rapid death of parenchymal cells in the LIVER, often due to exposure to toxic materials or drug-induced injury. It is characterized by a soft, flabby, yellow-brown wrinkled, and shrunken liver. It was called acute yellow atrophy."
+BMGC_DS05463,BMG_DS014444,HPO: A goiter that is not associated with functional thyroid abnormalities. [https://orcid.org/0000-0002-0736-9199] | MONDO: Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.
+BMGC_DS05464,BMG_DS014446,"ORPHANET: A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia."
+BMGC_DS05465,BMG_DS014452,
+BMGC_DS05466,BMG_DS014455,"MONDO: A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus."
+BMGC_DS05467,BMG_DS014457,
+BMGC_DS05468,BMG_DS014458,"HPO: Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. [https://orcid.org/0000-0002-0736-9199, PMID:19125427] | MONDO: A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure."
+BMGC_DS05469,BMG_DS014459,
+BMGC_DS05470,BMG_DS014460,
+BMGC_DS05471,BMG_DS014463,NCI: Acute infection of the bile ducts caused by bacteria ascending from the small intestine. | MONDO: Acute infection of the bile ducts caused by bacteria ascending from the small intestine.
+BMGC_DS05472,BMG_DS014465,MONDO: Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.
+BMGC_DS05473,BMG_DS014475,"MeSH: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)"
+BMGC_DS05474,BMG_DS014477,"SNOMEDCT_US: A rare genetic retinal dystrophy with characteristics of the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. | MONDO: Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age."
+BMGC_DS05475,BMG_DS014487,"NCI: A hypercoaguable state that results from the presence of the immunoglobulin known as Lupus Anticoagulant. The antibody interacts with cell membrane phospholipids, causing increased aggregation and adhesion of platelets, which causes increased clot formation. Though the majority of patients who test positive for lupus anticoagulant do not have lupus, those individuals afflicted with lupus have a higher probability of developing the antibody."
+BMGC_DS05476,BMG_DS014491,"MONDO: An intestinal infection with Isospora belli. | MeSH: Infection with parasitic protozoa of the genus ISOSPORA, producing intestinal disease. It is caused by ingestion of oocysts and can produce tissue cysts."
+BMGC_DS05477,BMG_DS014493,
+BMGC_DS05478,BMG_DS014494,NCI: Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. | MONDO: A disease characterized by elevated level of the pigment bilirubin in the blood.
+BMGC_DS05479,BMG_DS014500,HPO: One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS05480,BMG_DS014521,MONDO: Inflammation of the mucous membranes.
+BMGC_DS05481,BMG_DS014538,
+BMGC_DS05482,BMG_DS014544,"MeSH: Solitary or multiple benign hepatic vascular tumors, usually occurring in women of 20-50 years of age. The nodule, poorly encapsulated, consists of a central stellate fibrous scar and normal liver elements such as HEPATOCYTES, small BILE DUCTS, and KUPFFER CELLS among the intervening fibrous septa. The pale colored central scar represents large blood vessels with hyperplastic fibromuscular layer and narrowing lumen."
+BMGC_DS05483,BMG_DS014546,NCI: An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm. | MONDO: An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm.
+BMGC_DS05484,BMG_DS014553,NCI: Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies. | MONDO: Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies.
+BMGC_DS05485,BMG_DS014557,"NCI: A reactive metaplastic change in the urinary tract epithelium. The metaplastic changes in the epithelium resemble renal tubular structures. It can occur following surgical procedures, inflammation, stone formation, or trauma. | MONDO: So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria."
+BMGC_DS05486,BMG_DS014558,"HPO: The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. [https://orcid.org/0000-0002-0736-9199, PMID:21152797, PMID:26273166] | MONDO: A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation."
+BMGC_DS05487,BMG_DS014562,NCI: Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia is present.
+BMGC_DS05488,BMG_DS014564,"HPO: Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. [https://orcid.org/0000-0002-0736-9199, PMID:20542174] | MONDO: A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed."
+BMGC_DS05489,BMG_DS014566,NCI: A lymphangioma affecting several anatomic sites.
+BMGC_DS05490,BMG_DS014569,"SNOMEDCT_US: A rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction. | MONDO: A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells."
+BMGC_DS05491,BMG_DS014572,
+BMGC_DS05492,BMG_DS014578,NCI: A malignant neoplasm characterized by then presence of atypical giant cells. | MONDO: A malignant neoplasm characterized by then presence of atypical giant cells.
+BMGC_DS05493,BMG_DS014581,NCI: A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism. | MONDO: A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism.
+BMGC_DS05494,BMG_DS014582,MONDO: A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble \
+BMGC_DS05495,BMG_DS014583,"NCI: A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance. | MONDO: A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance."
+BMGC_DS05496,BMG_DS014584,"NCI: A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva. | MONDO: A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva."
+BMGC_DS05497,BMG_DS014587,NCI: Squamous cell carcinomas with morphologically prominent production of keratin. | MONDO: Squamous cell carcinomas with morphologically prominent production of keratin.
+BMGC_DS05498,BMG_DS014588,
+BMGC_DS05499,BMG_DS014589,"SNOMEDCT_US: A rare malignant epithelial neoplasm composed of undifferentiated epithelial cells with dense lymphoid stroma mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ. | MONDO: A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate."
+BMGC_DS05500,BMG_DS014590,NCI: A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors. | MONDO: A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors.
+BMGC_DS05501,BMG_DS014592,
+BMGC_DS05502,BMG_DS014594,"NCI: A benign or malignant, primary or metastatic neoplasm affecting the transitional cells."
+BMGC_DS05503,BMG_DS014595,NCI: A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. | MONDO: A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity.
+BMGC_DS05504,BMG_DS014596,
+BMGC_DS05505,BMG_DS014597,"NCI: A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization. | MONDO: A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization."
+BMGC_DS05506,BMG_DS014598,NCI: A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. | MONDO: A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features.
+BMGC_DS05507,BMG_DS014599,NCI: An anal carcinoma arising from the transitional zone of the anal canal. | MONDO: An anal carcinoma arising from the transitional zone of the anal canal.
+BMGC_DS05508,BMG_DS014600,NCI: A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. | MONDO: A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis.
+BMGC_DS05509,BMG_DS014601,MONDO: A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics. | MeSH: A lesion with cytological characteristics associated with invasive adenocarcinoma but the tumor cells are confined to the GLANDULAR EPITHELIAL CELLS of origin. Adenocarcinoma in situ of the CERVIX and the LUNG are the most common.
+BMGC_DS05510,BMG_DS014603,NCI: An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma. | MONDO: An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma.
+BMGC_DS05511,BMG_DS014604,"NCI: An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid. | MONDO: An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid."
+BMGC_DS05512,BMG_DS014605,NCI: A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component. | MONDO: A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.
+BMGC_DS05513,BMG_DS014606,"NCI: A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers. | MONDO: A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers."
+BMGC_DS05514,BMG_DS014610,"NCI: A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative. | MONDO: A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative."
+BMGC_DS05515,BMG_DS014611,NCI: An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma. | MONDO: An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma.
+BMGC_DS05516,BMG_DS014613,NCI: An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes. | MONDO: An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes.
+BMGC_DS05517,BMG_DS014614,NCI: A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.
+BMGC_DS05518,BMG_DS014615,NCI: A benign neoplasm composed of glands containing epithelial clear cells. | MONDO: A benign neoplasm composed of glands containing epithelial clear cells.
+BMGC_DS05519,BMG_DS014616,"MONDO: A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma. | MeSH: Benign or borderline malignant neoplasm of the ovary and surrounding tissues. It is characterized by tumor(s) with cystic glands which are lined by cuboidal EPITHELIAL CELLS with clear cytoplasm, resembling ENDOMETRIUM cells. The glands are separated by fibroblastic STROMAL CELLS."
+BMGC_DS05520,BMG_DS014617,NCI: A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma. | MONDO: A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma.
+BMGC_DS05521,BMG_DS014618,"NCI: A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma. | MONDO: A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma."
+BMGC_DS05522,BMG_DS014619,"NCI: A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei. | MONDO: A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei."
+BMGC_DS05523,BMG_DS014620,"NCI: A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular. | MONDO: A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular."
+BMGC_DS05524,BMG_DS014621,"NCI: An adenocarcinoma characterized by the presence of malignant epithelial cells with clear, often vacuolated or foamy cytoplasm."
+BMGC_DS05525,BMG_DS014622,NCI: An adenoma characterized by the presence of a mixed epithelial cell population. | MONDO: An adenoma characterized by the presence of a mixed epithelial cell population.
+BMGC_DS05526,BMG_DS014623,NCI: An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells. | MONDO: An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells.
+BMGC_DS05527,BMG_DS014624,NCI: A morphologic variant of papillary carcinoma of the thyroid gland that predominantly affects children. It is characterized by the presence of a solid growth pattern. The malignant cells have nuclear features that are characteristic of papillary carcinomas of the thyroid gland.
+BMGC_DS05528,BMG_DS014625,NCI: A thyroid gland adenoma composed of microfollicular structures. | MONDO: A thyroid gland adenoma composed of microfollicular structures.
+BMGC_DS05529,BMG_DS014626,NCI: A thyroid gland adenoma composed of large size follicles. | MONDO: A thyroid gland adenoma composed of large size follicles.
+BMGC_DS05530,BMG_DS014627,"NCI: A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. | MONDO: A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration."
+BMGC_DS05531,BMG_DS014629,NCI: A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma. | MONDO: A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.
+BMGC_DS05532,BMG_DS014630,NCI: A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course. | MONDO: A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course.
+BMGC_DS05533,BMG_DS014631,"NCI: A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported. | MONDO: A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported."
+BMGC_DS05534,BMG_DS014632,NCI: A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative. | MONDO: A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative.
+BMGC_DS05535,BMG_DS014633,NCI: A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections. | MONDO: A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections.
+BMGC_DS05536,BMG_DS014634,HPO: A tumor (abnormal growth of tissue) of the ceruminal gland. [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.
+BMGC_DS05537,BMG_DS014635,NCI: An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal. | MONDO: An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal.
+BMGC_DS05538,BMG_DS014637,NCI: A non-invasive papillary serous epithelial neoplasm usually arising from the ovary. | MONDO: A non-invasive papillary serous epithelial neoplasm usually arising from the ovary.
+BMGC_DS05539,BMG_DS014638,NCI: An invasive adenocarcinoma composed of malignant glandular cells which produce mucin.
+BMGC_DS05540,BMG_DS014640,"NCI: A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas. | MONDO: A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas."
+BMGC_DS05541,BMG_DS014641,MONDO: A papillary epithelial neoplasm arising in a cystically dilated breast duct.
+BMGC_DS05542,BMG_DS014645,NCI: A benign glandular epithelial neoplasm consisting of secretory cells forming acinar patterns.
+BMGC_DS05543,BMG_DS014646,"NCI: A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm. | MONDO: A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm."
+BMGC_DS05544,BMG_DS014647,NCI: An invasive adenocarcinoma characterized by the presence of focal or extensive transformation of malignant glandular cells to squamous epithelial cells.
+BMGC_DS05545,BMG_DS014648,NCI: A granulosa cell tumor which has an aggressive clinical course and metastasizes to other anatomic sites.
+BMGC_DS05546,BMG_DS014649,"NCI: A sex cord-stromal tumor occurring in the ovary and testis. In females it occurs predominantly in the first three decades of life and presents unilaterally as stage I disease in the vast majority of cases. It is characterized by the presence of granulosa cells forming macrofollicular structures. The majority of cases have a good prognosis. In males it represents the most frequent congenital testicular neoplasm, and the vast majority of cases occur in the perinatal period. It presents as a scrotal or abdominal mass, and it more often affects the left testis. Approximately 20% of the patients have ambiguous external genitalia. It is characterized by the presence of cystic spaces lined by granulosa cells and cells resembling theca cells. Metastases have not been reported."
+BMGC_DS05547,BMG_DS014652,"NCI: A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course. | MONDO: A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course."
+BMGC_DS05548,BMG_DS014657,"NCI: A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. | MONDO: A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions."
+BMGC_DS05549,BMG_DS014658,NCI: A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle. | MONDO: A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle.
+BMGC_DS05550,BMG_DS014659,"HPO: A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color. [https://orcid.org/0000-0002-0736-9199] | MONDO: An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance."
+BMGC_DS05551,BMG_DS014660,"NCI: A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion. | MONDO: A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion."
+BMGC_DS05552,BMG_DS014662,NCI: A melanoma characterized by the presence of malignant large epithelioid melanocytes. | MONDO: A melanoma characterized by the presence of malignant large epithelioid melanocytes.
+BMGC_DS05553,BMG_DS014663,NCI: A melanoma characterized by the presence of malignant spindle-shaped melanocytes. | MONDO: A melanoma characterized by the presence of malignant spindle-shaped melanocytes.
+BMGC_DS05554,BMG_DS014665,NCI: The occurrence of several sarcomas in different anatomic locations. | MONDO: The occurrence of several sarcomas in different anatomic locations.
+BMGC_DS05555,BMG_DS014666,"NCI: A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. | MONDO: A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes."
+BMGC_DS05556,BMG_DS014668,NCI: An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. | MONDO: An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.
+BMGC_DS05557,BMG_DS014670,NCI: An atypical lipomatous tumor/well differentiated liposarcoma characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma. | MONDO: A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma.
+BMGC_DS05558,BMG_DS014671,"MONDO: A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma."
+BMGC_DS05559,BMG_DS014672,NCI: A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma. | MONDO: A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.
+BMGC_DS05560,BMG_DS014673,"HPO: A lipoma that is located within a muscle. [] | MONDO: A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas."
+BMGC_DS05561,BMG_DS014674,"NCI: A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity. | MONDO: A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity."
+BMGC_DS05562,BMG_DS014675,NCI: A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. | MONDO: A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.
+BMGC_DS05563,BMG_DS014676,NCI: A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm. | MONDO: A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm.
+BMGC_DS05564,BMG_DS014677,"NCI: An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities. | MONDO: An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities."
+BMGC_DS05565,BMG_DS014678,
+BMGC_DS05566,BMG_DS014680,"SNOMEDCT_US: A rare primary genetic renal tumour usually characterised by a unilateral, unicentric, morphologically diverse tumour that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, haematuria, anaemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space have been reported. | MONDO: A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue."
+BMGC_DS05567,BMG_DS014681,"HPO: A rare pediatric carcinoma of the pancreas. [https://orcid.org/0009-0006-4530-3154] | MONDO: Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests."
+BMGC_DS05568,BMG_DS014683,"NCI: A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. | MONDO: A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation."
+BMGC_DS05569,BMG_DS014684,"NCI: A malignant neoplasm that arises from the ovary. It is characterized by the presence of an invasive malignant urothelial-type cellular component and nests of benign urothelial-type cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good. | MONDO: A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good."
+BMGC_DS05570,BMG_DS014685,NCI: A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells. | MONDO: A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells.
+BMGC_DS05571,BMG_DS014686,NCI: A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures. | MONDO: A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures.
+BMGC_DS05572,BMG_DS014688,NCI: A benign or borderline adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. | MONDO: A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential.
+BMGC_DS05573,BMG_DS014690,NCI: A synovial sarcoma characterized by the presence of a spindle cell component only. | MONDO: A synovial sarcoma characterized by the presence of a spindle cell component only.
+BMGC_DS05574,BMG_DS014691,NCI: A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures. | MONDO: A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.
+BMGC_DS05575,BMG_DS014692,NCI: A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component. | MONDO: A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.
+BMGC_DS05576,BMG_DS014693,"NCI: A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen."
+BMGC_DS05577,BMG_DS014694,NCI: A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen. | MONDO: A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.
+BMGC_DS05578,BMG_DS014695,"NCI: A malignant mesothelioma characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor. | MONDO: A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features."
+BMGC_DS05579,BMG_DS014696,"NCI: A testicular germ cell tumor derived from postpubertal-type germ cells. It is characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males. | MONDO: A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males."
+BMGC_DS05580,BMG_DS014698,"NCI: A teratoma characterized by the presence of an extensive component of immature, fetal-type tissues. | MONDO: A teratoma composed of immature, fetal-type tissues."
+BMGC_DS05581,BMG_DS014699,NCI: An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. | MONDO: An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues.
+BMGC_DS05582,BMG_DS014701,"SNOMEDCT_US: A rare germ cell tumour characterised by composition of two or more malignant germ cell components, the most common combination being dysgerminoma and yolk sac tumour. The tumours typically occur between childhood and young adulthood. They are usually located in the gonads, occasionally also in other regions. Clinical presentation corresponds to the individual germ cell components and the tumour location; manifestations may include abdominal pain, abdominal mass, and menstrual disorder in females, and a testicular mass in males. The most important prognostic factor is tumour stage. | MONDO: A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum."
+BMGC_DS05583,BMG_DS014702,"NCI: A carcinoma with histological features identical to thyroid carcinoma, arising in ovarian mature teratoma with aberrant thyroid tissue (struma ovarii). | MONDO: An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion)."
+BMGC_DS05584,BMG_DS014703,"MONDO: Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage."
+BMGC_DS05585,BMG_DS014707,NCI: A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. | MONDO: A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.
+BMGC_DS05586,BMG_DS014709,NCI: A skin hemangioma characterized by the presence of epidermal hyperplasia. | MONDO: A skin hemangioma characterized by the presence of epidermal hyperplasia.
+BMGC_DS05587,BMG_DS014710,NCI: An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone. | MONDO: An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.
+BMGC_DS05588,BMG_DS014712,NCI: A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis. | MONDO: A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis.
+BMGC_DS05589,BMG_DS014713,"NCI: A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. | MONDO: A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification."
+BMGC_DS05590,BMG_DS014714,"NCI: A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling. | MONDO: A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling."
+BMGC_DS05591,BMG_DS014715,MONDO: A chondrosarcoma characterized by the presence of myxoid changes.
+BMGC_DS05592,BMG_DS014716,"NCI: A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor). | MONDO: A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor)."
+BMGC_DS05593,BMG_DS014718,NCI: An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism. | MONDO: An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism.
+BMGC_DS05594,BMG_DS014719,"MONDO: A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton."
+BMGC_DS05595,BMG_DS014722,"SNOMEDCT_US: A rare glial neoplasm with characteristics of extensive infiltration of the brain, often extending to infratentorial structures and even the spinal cord. The neoplasm is composed of elongated glial cells typically resembling astrocytes. Cases in which the predominant cell type is oligodendroglial have also been described. Some neoplasms develop a circumscribed neoplastic mass in addition to the diffuse lesion, usually showing features of high-grade glioma. Clinical symptoms include dementia, headache, seizures, signs of increased intracranial pressure and a variety of neurological deficits. Prognosis is generally poor. | MONDO: A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)"
+BMGC_DS05596,BMG_DS014723,"NCI: A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO) | MONDO: A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)"
+BMGC_DS05597,BMG_DS014724,"NCI: A central nervous system tumor with morphological features of anaplastic astrocytoma in which there is insufficient information on the IDH genes status. | MONDO: Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord."
+BMGC_DS05598,BMG_DS014725,"NCI: A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO) | MONDO: A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)"
+BMGC_DS05599,BMG_DS014726,"NCI: A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO) | MONDO: A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)"
+BMGC_DS05600,BMG_DS014727,"NCI: The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO) | MONDO: The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)"
+BMGC_DS05601,BMG_DS014728,"SNOMEDCT_US: A rare subtype of low-grade glioma of the central nervous system characterised by a well circumscribed, often cystic, brain tumour with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localisation and the size of the tumour, patients can present with signs of raised intracranial pressure (headache, vomiting, papilloedema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. | MONDO: Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported."
+BMGC_DS05602,BMG_DS014729,"HPO: Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth. [https://orcid.org/0000-0002-1735-8178, PMID:30051528, PMID:31535562] | MONDO: A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults."
+BMGC_DS05603,BMG_DS014730,"NCI: A rare glial neoplasm characterized by structural rearrangements of the MN1 gene at chromosome band 22q12.1. It is usually found in the cerebral hemispheres of young adults and children and predominantly affects females. Morphologically, it consists of elongated glial cells with abundant eosinophilic cytoplasm and GFAP-positive processes, arranged perivascularly. | MONDO: Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches."
+BMGC_DS05604,BMG_DS014731,"NCI: A rare histological variant of glioblastoma with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) | MONDO: A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)"
+BMGC_DS05605,BMG_DS014732,"NCI: A central nervous system tumor with morphological features of anaplastic oligodendroglioma in which there is insufficient information on the IDH genes and 1p/19q codeletion status. | MONDO: A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)."
+BMGC_DS05606,BMG_DS014734,NCI: A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles. | MONDO: A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.
+BMGC_DS05607,BMG_DS014735,NCI: A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present. | MONDO: A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.
+BMGC_DS05608,BMG_DS014736,NCI: A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix. | MONDO: A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.
+BMGC_DS05609,BMG_DS014737,NCI: A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells. | MONDO: A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells.
+BMGC_DS05610,BMG_DS014738,NCI: A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells. | MONDO: A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.
+BMGC_DS05611,BMG_DS014739,NCI: A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns. | MONDO: A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns.
+BMGC_DS05612,BMG_DS014740,"NCI: A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis. | MONDO: A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis."
+BMGC_DS05613,BMG_DS014741,ORPHANET: Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST; see this term) characterized histopathologically by focal rhabdomyoblastic differentiation. | MONDO: Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.
+BMGC_DS05614,BMG_DS014742,"NCI: An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity. | MONDO: An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity."
+BMGC_DS05615,BMG_DS014743,"NCI: A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein. | MONDO: A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein."
+BMGC_DS05616,BMG_DS014744,"ORPHANET: Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma (see this term) characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis. | MONDO: Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis."
+BMGC_DS05617,BMG_DS014745,"MONDO: An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. | MeSH: Malignant neoplasms composed of MACROPHAGES or DENDRITIC CELLS. Most histiocytic sarcomas present as localized tumor masses without a leukemic phase. Though the biological behavior of these neoplasms resemble lymphomas, their cell lineage is histiocytic not lymphoid."
+BMGC_DS05618,BMG_DS014746,"MONDO: A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001)"
+BMGC_DS05619,BMG_DS014749,NCI: An adenoma arising from the renal cortex. | MONDO: An adenoma arising from the renal cortex.
+BMGC_DS05620,BMG_DS014750,"MONDO: Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)."
+BMGC_DS05621,BMG_DS014751,MONDO: An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma.
+BMGC_DS05622,BMG_DS014752,"NCI: An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. | MONDO: An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children."
+BMGC_DS05623,BMG_DS014753,HPO: A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. [https://orcid.org/0000-0002-0538-4547]
+BMGC_DS05624,BMG_DS014754,MONDO: A carcinoma that arises from glandular epithelial cells of the colon
+BMGC_DS05625,BMG_DS014755,NCI: A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma. | MONDO: A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.
+BMGC_DS05626,BMG_DS014767,"MONDO: A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400) | MeSH: A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)"
+BMGC_DS05627,BMG_DS014768,
+BMGC_DS05628,BMG_DS014785,"MONDO: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5) | MeSH: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, SEIZURES, and COMA. It may follow a viral illness or MYCOPLASMA PNEUMONIAE infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)"
+BMGC_DS05629,BMG_DS014794,"MONDO: A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy. | MeSH: A paraneoplastic syndrome marked by degeneration of neurons in the LIMBIC SYSTEM. Clinical features include HALLUCINATIONS, loss of EPISODIC MEMORY; ANOSMIA; AGEUSIA; TEMPORAL LOBE EPILEPSY; DEMENTIA; and affective disturbance (depression). Circulating anti-neuronal antibodies (e.g., anti-Hu; anti-Yo; anti-Ri; and anti-Ma2) and small cell lung carcinomas or testicular carcinoma are frequently associated with this syndrome."
+BMGC_DS05630,BMG_DS014799,"MeSH: Infection of the brain, spinal cord, or perimeningeal structures with the larval forms of the genus TAENIA (primarily T. solium in humans). Lesions formed by the organism are referred to as cysticerci. The infection may be subacute or chronic, and the severity of symptoms depends on the severity of the host immune response and the location and number of lesions. SEIZURES represent the most common clinical manifestation although focal neurologic deficits may occur. (From Joynt, Clinical Neurology, 1998, Ch27, pp46-50)"
+BMGC_DS05631,BMG_DS014809,"MONDO: Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy. | MeSH: The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight."
+BMGC_DS05632,BMG_DS014818,"HPO: A progressive loss of the ability to remember the meaning of words, faces and objects. [HPO_CONTRIBUTOR:ICM_PCaroppo, PMID:24966676] | MONDO: Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes."
+BMGC_DS05633,BMG_DS014822,"MeSH: Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)"
+BMGC_DS05634,BMG_DS014825,"MONDO: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) | MeSH: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"
+BMGC_DS05635,BMG_DS014827,"MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS05636,BMG_DS014828,"MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS05637,BMG_DS014829,"MONDO: A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. | MeSH: Recurrent unilateral pulsatile headaches, not preceded or accompanied by an aura, in attacks lasting 4-72 hours. It is characterized by PAIN of moderate to severe intensity; aggravated by physical activity; and associated with NAUSEA and / or PHOTOPHOBIA and PHONOPHOBIA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS05638,BMG_DS014831,"MeSH: A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS05639,BMG_DS014832,"NCI: A migraine disorder characterized by individual and family history of aura that includes motor weakness. | MONDO: A migraine disorder characterized by individual and family history of aura that includes motor weakness. | MeSH: A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS05640,BMG_DS014833,"MeSH: A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS05641,BMG_DS014835,"ORPHANET: A rare, genetic, neurodevelopmental disorder characterized by early-onset of recurrent, transient episodes of hemiplegia (including quadriplegia), which typically disappear upon sleep. | MONDO: A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment."
+BMGC_DS05642,BMG_DS014836,"NCI: An episode of migraine that persists for more than 72 hours. | MeSH: A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS05643,BMG_DS014838,"MONDO: A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. | MeSH: Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types."
+BMGC_DS05644,BMG_DS014844,"NCI: A congenital abnormality characterized by the underdevelopment of the optic nerve. | MeSH: A group of rare genetic disorders characterized by underdeveloped OPTIC NERVES, resulting in increased incidences of vision impairment, CONGENITAL NYSTAGMUS and STRABISMUS. It may be syndromic, and is often associated with CNS malformations."
+BMGC_DS05645,BMG_DS014845,"MONDO: Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. | MeSH: A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM; CORPUS CALLOSUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the HYPOTHALAMUS and other diencephalic structures, and HYPOPITUITARISM."
+BMGC_DS05646,BMG_DS014849,"MONDO: One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects. | MeSH: Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria."
+BMGC_DS05647,BMG_DS014873,"MeSH: Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)"
+BMGC_DS05648,BMG_DS014888,"HPO: An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses. [https://orcid.org/0000-0002-1735-8178, PMID:29923367]"
+BMGC_DS05649,BMG_DS014890,"MONDO: Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma. | MeSH: Formation or presence of a blood clot (THROMBUS) in the SUPERIOR SAGITTAL SINUS or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, CRANIOCEREBRAL TRAUMA; and NEUROSURGICAL PROCEDURES. Clinical features are primarily related to the increased intracranial pressure causing HEADACHE; NAUSEA; and VOMITING. Severe cases can evolve to SEIZURES or COMA."
+BMGC_DS05650,BMG_DS014895,"MeSH: A heterogeneous group of sporadic or familial disorders characterized by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES. Clinical features include multiple, small lobar CEREBRAL HEMORRHAGE; cerebral ischemia (BRAIN ISCHEMIA); and CEREBRAL INFARCTION. Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE. (from Kumar: Robbins and Cotran: Pathologic Basis of Disease, 7th ed., 2005)"
+BMGC_DS05651,BMG_DS014896,"HPO: A separation (dissection) of the layers of the carotid artery wall. [https://orcid.org/0000-0002-0736-9199] | MONDO: Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke."
+BMGC_DS05652,BMG_DS014902,"MONDO: A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event. | MeSH: A syndrome characterized by a transient loss of the ability to form new memories. It primarily occurs in middle aged or elderly individuals, and episodes may last from minutes to hours. During the period of amnesia, immediate and recent memory abilities are impaired, but the level of consciousness and ability to perform other intellectual tasks are preserved. The condition is related to bilateral dysfunction of the medial portions of each TEMPORAL LOBE. Complete recovery normally occurs, and recurrences are unusual. (From Adams et al., Principles of Neurology, 6th ed, pp429-30)"
+BMGC_DS05653,BMG_DS014905,NCI: A type of cerebral palsy characterized by increased muscle tone. | MONDO: A form of cerebral palsy wherein spasticity is the exclusive impairment present.
+BMGC_DS05654,BMG_DS014923,"MeSH: A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994)"
+BMGC_DS05655,BMG_DS014943,
+BMGC_DS05656,BMG_DS014977,"ORPHANET: A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. | MONDO: Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported."
+BMGC_DS05657,BMG_DS014984,NCI: A melanoma that arises from the upper or lower eyelid. | MONDO: A melanoma that arises from the upper or lower eyelid.
+BMGC_DS05658,BMG_DS014987,
+BMGC_DS05659,BMG_DS014988,NCI: A benign or malignant neoplasm that affects the lacrimal gland. | MONDO: A neoplasm (disease) that involves the lacrimal gland.
+BMGC_DS05660,BMG_DS014991,
+BMGC_DS05661,BMG_DS014992,
+BMGC_DS05662,BMG_DS014999,"MeSH: An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy."
+BMGC_DS05663,BMG_DS015012,
+BMGC_DS05664,BMG_DS015031,
+BMGC_DS05665,BMG_DS015051,"NCI: An autosomal recessive corneal dystrophy caused by mutation(s) in the TACSTD2 gene, encoding tumor-associated calcium signal transducer 2. It is characterized by severe corneal amyloidosis that may result in blindness. | MONDO: Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment."
+BMGC_DS05666,BMG_DS015052,"MONDO: Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. | MeSH: An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder."
+BMGC_DS05667,BMG_DS015053,"ORPHANET: Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment. | MONDO: Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment."
+BMGC_DS05668,BMG_DS015055,"HPO: This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. [https://orcid.org/0000-0002-0736-9199] | MONDO: Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision."
+BMGC_DS05669,BMG_DS015056,
+BMGC_DS05670,BMG_DS015058,
+BMGC_DS05671,BMG_DS015059,"ORPHANET: Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision. | MONDO: Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision."
+BMGC_DS05672,BMG_DS015063,NCI: A benign or malignant neoplasm that affects the cornea. | MONDO: A neoplasm (disease) that involves the cornea.
+BMGC_DS05673,BMG_DS015071,
+BMGC_DS05674,BMG_DS015072,
+BMGC_DS05675,BMG_DS015077,NCI: A benign or malignant neoplasm that affects the ciliary body. | MONDO: A neoplasm (disease) that involves the ciliary body.
+BMGC_DS05676,BMG_DS015092,
+BMGC_DS05677,BMG_DS015112,
+BMGC_DS05678,BMG_DS015117,
+BMGC_DS05679,BMG_DS015118,
+BMGC_DS05680,BMG_DS015147,
+BMGC_DS05681,BMG_DS015152,"MONDO: A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. | MeSH: Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel."
+BMGC_DS05682,BMG_DS015154,"MONDO: Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. | MeSH: A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells."
+BMGC_DS05683,BMG_DS015157,"NCI: A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa. | MONDO: A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa."
+BMGC_DS05684,BMG_DS015158,"HPO: A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS05685,BMG_DS015159,"HPO: A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. [https://orcid.org/0000-0002-0736-9199] | MONDO: Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia."
+BMGC_DS05686,BMG_DS015160,"MONDO: Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. | MeSH: A group of inherited disorders characterized by incomplete development of the retinal vasculature. Its severity can vary from complete blindness in infancy, to mild or no visual problems, where small areas of vascular defects are observable only by FLUORESCEIN ANGIOGRAPHY. Exudative vitreoretinopathy 1 is associated with mutations in the FZD4 gene."
+BMGC_DS05687,BMG_DS015161,"SNOMEDCT_US: A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular oedema, retinoschisis). The onset is usually in childhood. Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. Inherited as an autosomal recessive trait and has a progressive course. | MONDO: A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)."
+BMGC_DS05688,BMG_DS015163,"MONDO: A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291) | MeSH: A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) RETINAL PIGMENT EPITHELIUM. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the FOVEA CENTRALIS. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with RETINAL HOLES, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)"
+BMGC_DS05689,BMG_DS015164,"MeSH: Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12)."
+BMGC_DS05690,BMG_DS015168,NCI: A non-Hodgkin lymphoma arising from the retina. | MONDO: A lymphoma that involves the retina.
+BMGC_DS05691,BMG_DS015179,
+BMGC_DS05692,BMG_DS015180,NCI: A form of glaucoma in which there is no visible abnormality in the trabecular meshwork. | MONDO: Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene. | MeSH: Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.
+BMGC_DS05693,BMG_DS015184,
+BMGC_DS05694,BMG_DS015186,
+BMGC_DS05695,BMG_DS015197,
+BMGC_DS05696,BMG_DS015206,
+BMGC_DS05697,BMG_DS015217,"MeSH: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze."
+BMGC_DS05698,BMG_DS015218,"HPO: Convergent squint which follows loss or impairment of vision. [https://orcid.org/0000-0003-0986-4123] | MeSH: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze."
+BMGC_DS05699,BMG_DS015262,HPO: A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. [https://orcid.org/0000-0003-0986-4123] | MeSH: Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in  REFRACTIVE ERROR.
+BMGC_DS05700,BMG_DS015263,HPO: A type of astigmatism related to an irregular shape of the lens. [] | MeSH: Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in  REFRACTIVE ERROR.
+BMGC_DS05701,BMG_DS015270,"MeSH: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications."
+BMGC_DS05702,BMG_DS015274,MeSH: The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
+BMGC_DS05703,BMG_DS015283,
+BMGC_DS05704,BMG_DS015289,
+BMGC_DS05705,BMG_DS015312,"NCI: A non-neoplastic or neoplastic disorder that affects the nasal cavity. Representative examples include inflammatory disorders, papillomas, and carcinomas. | MONDO: A disease involving the nasal cavity."
+BMGC_DS05706,BMG_DS015331,
+BMGC_DS05707,BMG_DS015357,"HPO: It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. [HPO_CONTRIBUTOR:RGD_gthayman, PMID:7378088]"
+BMGC_DS05708,BMG_DS015375,
+BMGC_DS05709,BMG_DS015376,
+BMGC_DS05710,BMG_DS015383,"MONDO: A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing."
+BMGC_DS05711,BMG_DS015390,"MONDO: An pneumonia caused by infection with Chlamydia. | MeSH: Pneumonia caused by infections with the genus CHLAMYDIA; and CHLAMYDOPHILA, usually with CHLAMYDOPHILA PNEUMONIAE."
+BMGC_DS05712,BMG_DS015399,
+BMGC_DS05713,BMG_DS015411,"ORPHANET: Idiopathic bronchiectasis&amp;#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies). | MONDO: Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)."
+BMGC_DS05714,BMG_DS015432,"NCI: Chylothorax that is present at birth. | MONDO: Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations."
+BMGC_DS05715,BMG_DS015448,
+BMGC_DS05716,BMG_DS015450,"ORPHANET: A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause. | MONDO: Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections."
+BMGC_DS05717,BMG_DS015451,
+BMGC_DS05718,BMG_DS015455,NCI: Evidence of chronic obstructive pulmonary disease with acute exacerbation.
+BMGC_DS05719,BMG_DS015469,
+BMGC_DS05720,BMG_DS015491,MeSH: Fungal infections caused by TRICHOSPORON that may become systemic especially in an IMMUNOCOMPROMISED HOST. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.
+BMGC_DS05721,BMG_DS015498,"ORPHANET: A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe. | MONDO: A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe."
+BMGC_DS05722,BMG_DS015517,NCI: Replacement of the lung tissue by connective tissue in a specific area of the lung. | MONDO: Replacement of the lung tissue by connective tissue in a specific area of the lung.
+BMGC_DS05723,BMG_DS015555,NCI: A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. | MONDO: A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops.
+BMGC_DS05724,BMG_DS015562,NCI: Pneumoconiosis caused by the inhalation of mixed mineral dust particles. | MONDO: Pneumoconiosis caused by the inhalation of mixed mineral dust particles.
+BMGC_DS05725,BMG_DS015564,NCI: Pneumoconiosis caused by exposure to slate dust. | MONDO: Pneumoconiosis caused by exposure to slate dust.
+BMGC_DS05726,BMG_DS015571,"SNOMEDCT_US: Respiratory failure due to a low level of oxygen in the blood without a high level of carbon dioxide. | MeSH: Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)"
+BMGC_DS05727,BMG_DS015619,
+BMGC_DS05728,BMG_DS015623,"NCI: Angina pectoris which has not recently changed in frequency, duration or intensity. Stable angina pectoris is relieved by rest or administration or oral, sublingual or transdermal antianginal medications."
+BMGC_DS05729,BMG_DS015634,MONDO: Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. | MeSH: MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.
+BMGC_DS05730,BMG_DS015641,
+BMGC_DS05731,BMG_DS015648,
+BMGC_DS05732,BMG_DS015649,NCI: A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings. | MONDO: A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings.
+BMGC_DS05733,BMG_DS015662,
+BMGC_DS05734,BMG_DS015670,"ORPHANET: A rare familial congenital mitral malformation characterized by systolic displacement of one or both mitral leaflets &gt;2 mm beyond the annular plane into the left atrium. Typical histological findings include myxomatous degeneration and degradation of collagen and elastin. Patients may remain asymptomatic or develop complications such as severe mitral regurgitation, endocarditis, and heart failure. | MONDO: An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome."
+BMGC_DS05735,BMG_DS015678,MONDO: An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.
+BMGC_DS05736,BMG_DS015707,"MONDO: A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
+BMGC_DS05737,BMG_DS015709,MONDO: An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.
+BMGC_DS05738,BMG_DS015730,"MeSH: A group of cardiac arrhythmias in which the cardiac contractions are not initiated at the SINOATRIAL NODE. They include both atrial and ventricular premature beats, and are also known as extra or ectopic heartbeats. Their frequency is increased in heart diseases."
+BMGC_DS05739,BMG_DS015744,"MONDO: An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome. | MeSH: An arrhythmogenic disorder of the heart characterized by irregular heart rhythms in response to physical activity, stress, or catecholamine infusion, often transitioning into VENTRICULAR FIBRILLATION."
+BMGC_DS05740,BMG_DS015750,"ORPHANET: A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients. | MONDO: Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients."
+BMGC_DS05741,BMG_DS015751,"MONDO: A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence."
+BMGC_DS05742,BMG_DS015752,
+BMGC_DS05743,BMG_DS015755,
+BMGC_DS05744,BMG_DS015773,"MONDO: Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. | MeSH: Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease."
+BMGC_DS05745,BMG_DS015774,"ORPHANET: Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal. | MONDO: Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal."
+BMGC_DS05746,BMG_DS015777,
+BMGC_DS05747,BMG_DS015781,
+BMGC_DS05748,BMG_DS015791,"MONDO: Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta. | MeSH: Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)"
+BMGC_DS05749,BMG_DS015806,NCI: The formation of a thrombus in the renal artery.
+BMGC_DS05750,BMG_DS015813,"MeSH: Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)"
+BMGC_DS05751,BMG_DS015814,"NCI: A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media."
+BMGC_DS05752,BMG_DS015898,"HPO: A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). [PMID:22483320, PMID:25864701]"
+BMGC_DS05753,BMG_DS015899,
+BMGC_DS05754,BMG_DS015900,
+BMGC_DS05755,BMG_DS015901,"MONDO: Hennekam syndrome is characterized by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism."
+BMGC_DS05756,BMG_DS015903,"SNOMEDCT_US: An autosomal recessive subtype of primary pulmonary hypertension which has histological characteristics of widespread fibrous intimal proliferation of septal veins and preseptal venules. There is frequent association with pulmonary capillary dilatation and proliferation and the disease can cause occult alveolar haemorrhage. | MONDO: A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal."
+BMGC_DS05757,BMG_DS015907,"NCI: A condition in which neurally-mediated syncope occurs due to a specific circumstance, such as micturition, defecation, coughing, or traction of the hair. (ACC-AHA) | MeSH: A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)"
+BMGC_DS05758,BMG_DS015908,"MeSH: A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)"
+BMGC_DS05759,BMG_DS015981,MONDO: Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.
+BMGC_DS05760,BMG_DS015997,
+BMGC_DS05761,BMG_DS016006,
+BMGC_DS05762,BMG_DS016013,MONDO: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.
+BMGC_DS05763,BMG_DS016038,"MONDO: Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs). | MeSH: Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens."
+BMGC_DS05764,BMG_DS016040,NCI: An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations. | MONDO: An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations.
+BMGC_DS05765,BMG_DS016041,"NCI: Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing. | MONDO: Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing."
+BMGC_DS05766,BMG_DS016042,"NCI: Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning. | MONDO: Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning."
+BMGC_DS05767,BMG_DS016065,
+BMGC_DS05768,BMG_DS016182,"ORPHANET: Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium. | MONDO: Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium."
+BMGC_DS05769,BMG_DS016197,"MONDO: It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy."
+BMGC_DS05770,BMG_DS016200,"HPO: A form of cytomegalovirus infection characterized by infection and inflammation of the colon. [PMID:31194388] | MeSH: Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults."
+BMGC_DS05771,BMG_DS016274,NCI: A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. | MONDO: A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.
+BMGC_DS05772,BMG_DS016284,NCI: Peritonitis that is caused by a bacterial infection. | MONDO: Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis.
+BMGC_DS05773,BMG_DS016299,
+BMGC_DS05774,BMG_DS016339,MONDO: Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.
+BMGC_DS05775,BMG_DS016347,"NCI: An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. | MONDO: An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure."
+BMGC_DS05776,BMG_DS016350,"MONDO: Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus."
+BMGC_DS05777,BMG_DS016352,MONDO: Chronic form of rapidly progressive glomerulonephritis.
+BMGC_DS05778,BMG_DS016353,HPO: Atrophy of the kidney. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS05779,BMG_DS016356,"NCI: Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset. | MONDO: A Fanconi renotubular syndrome that occurs in an adult. Adult Fanconi syndrome is typically acquired."
+BMGC_DS05780,BMG_DS016370,HPO: A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. [PMID:26904418]
+BMGC_DS05781,BMG_DS016378,MONDO: A neoplasm (disease) that involves the paraurethral gland.
+BMGC_DS05782,BMG_DS016379,NCI: A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma. | MONDO: A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma.
+BMGC_DS05783,BMG_DS016386,
+BMGC_DS05784,BMG_DS016390,HPO: A tumor (abnormal growth of tissue) of the scrotum. [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign or malignant neoplasm that affects the scrotum.
+BMGC_DS05785,BMG_DS016406,"NCI: A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor. | MONDO: A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor."
+BMGC_DS05786,BMG_DS016421,
+BMGC_DS05787,BMG_DS016427,MeSH: Diminished or absent ability of a female to achieve conception.
+BMGC_DS05788,BMG_DS016464,"NCI: Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. | MONDO: Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances."
+BMGC_DS05789,BMG_DS016537,NCI: Nodular enlargement of the thyroid gland associated with hyperthyroidism. | MONDO: Nodular enlargement of the thyroid gland associated with hyperthyroidism.
+BMGC_DS05790,BMG_DS016556,NCI: Evidence of congenital hypothyroidism without goiter.
+BMGC_DS05791,BMG_DS016559,
+BMGC_DS05792,BMG_DS016577,"MONDO: An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4. | MeSH: An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4."
+BMGC_DS05793,BMG_DS016580,"NCI: Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism). | MONDO: Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism)."
+BMGC_DS05794,BMG_DS016584,MONDO: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.
+BMGC_DS05795,BMG_DS016585,"NCI: Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase. | MONDO: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene."
+BMGC_DS05796,BMG_DS016586,MONDO: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene.
+BMGC_DS05797,BMG_DS016588,
+BMGC_DS05798,BMG_DS016589,"NCI: Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency. | MeSH: A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA."
+BMGC_DS05799,BMG_DS016610,"MeSH: Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE."
+BMGC_DS05800,BMG_DS016620,"NCI: Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset. | MONDO: Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients."
+BMGC_DS05801,BMG_DS016622,"NCI: A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively. | MONDO: MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes."
+BMGC_DS05802,BMG_DS016623,"NCI: Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. | MONDO: Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes."
+BMGC_DS05803,BMG_DS016624,"MONDO: Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight."
+BMGC_DS05804,BMG_DS016625,"ORPHANET: A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. | MONDO: AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait."
+BMGC_DS05805,BMG_DS016626,"SNOMEDCT_US: A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. | MONDO: This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus."
+BMGC_DS05806,BMG_DS016627,MONDO: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.
+BMGC_DS05807,BMG_DS016628,
+BMGC_DS05808,BMG_DS016629,"ORPHANET: Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. | MONDO: Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989."
+BMGC_DS05809,BMG_DS016630,"SNOMEDCT_US: Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner. | MONDO: Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia."
+BMGC_DS05810,BMG_DS016631,"ORPHANET: Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. | MONDO: Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness."
+BMGC_DS05811,BMG_DS016632,"NCI: An X-linked recessive autoimmune condition caused by mutation(s) in the FOXP3 gene, encoding the forkhead box P3 transcription factor. The condition is characterized by infantile onset of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Associated features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The condition is usually fatal before age 2 years if not treated with bone marrow transplantation. | MONDO: Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections."
+BMGC_DS05812,BMG_DS016633,"NCI: A maternally inherited condition characterized by diabetes and sensorineural deafness with onset after the age of 20, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms. | MONDO: Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness."
+BMGC_DS05813,BMG_DS016650,
+BMGC_DS05814,BMG_DS016663,"NCI: A syndrome of insulin resistance caused by mutation(s) in the INSR gene, encoding the insulin receptor. This condition is characterized by a clinical triad of hyperinsulinemia, acanthosis nigricans, and hyperandrogenism without lipodystrophy. This is the least severe of a spectrum of disorders; the other two conditions are Rabson-Mendenhall Syndrome and Donohoe Syndrome."
+BMGC_DS05815,BMG_DS016668,"MeSH: A condition of low or absent PTH level and HYPOCALCEMIA. It usually occurs as part of an autoimmune syndrome. | MeSH: A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone."
+BMGC_DS05816,BMG_DS016669,NCI: Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). | MONDO: Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).
+BMGC_DS05817,BMG_DS016670,"NCI: Hypoparathyroidism associated with heterozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. | MONDO: Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene."
+BMGC_DS05818,BMG_DS016680,
+BMGC_DS05819,BMG_DS016683,
+BMGC_DS05820,BMG_DS016685,"MONDO: A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported."
+BMGC_DS05821,BMG_DS016688,"HPO: A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. [https://orcid.org/0000-0002-0538-4547] | MONDO: A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland."
+BMGC_DS05822,BMG_DS016689,MONDO: Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.
+BMGC_DS05823,BMG_DS016698,NCI: Ischemic necrosis of the pituitary gland. | MONDO: Ischemic necrosis of the pituitary gland.
+BMGC_DS05824,BMG_DS016707,"HPO: The presence of a hamartoma of the hypothalamus. [https://orcid.org/0000-0002-0736-9199] | MONDO: Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic."
+BMGC_DS05825,BMG_DS016734,"NCI: Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization. | MONDO: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias."
+BMGC_DS05826,BMG_DS016735,
+BMGC_DS05827,BMG_DS016736,"NCI: Congenital adrenal hyperplasia resulting from the deposition of lipid in the adrenal glands due to a defect of intracellular cholesterol transport or metabolism. The condition is characterized by deficiencies of glucocorticoids, mineralocorticoids, and sex steroids: 46,XY infants are undervirilized, whereas 46,XX infants have no genital manifestations. | MONDO: Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males."
+BMGC_DS05828,BMG_DS016740,"NCI: A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. | MONDO: A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. | MeSH: Genetic or familial occurrence of ADDISONS DISEASE characterized by insufficient production of cortisol, aldosterone, and/or other hormones made in the adrenal cortex."
+BMGC_DS05829,BMG_DS016743,"MONDO: Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. | MeSH: A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS."
+BMGC_DS05830,BMG_DS016747,"NCI: Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter."
+BMGC_DS05831,BMG_DS016766,NCI: Inadequate production of circulating testosterone.
+BMGC_DS05832,BMG_DS016777,"NCI: Premature onset of sexual development triggered by the premature secretion of gonadotropins. | MONDO: Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). | MeSH: Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE."
+BMGC_DS05833,BMG_DS016781,"SNOMEDCT_US: A very rare gonadotropin-independent familial form of male-limited precocious puberty generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Caused by an activating mutation of the Lutropin-Choriogonadotropic Hormone Receptor gene (LHCGR, 2p21) which leads to increased levels of sex steroids in the context of low luteinising hormone. This receptor's chronic activation leads to precocious testosterone production by Leydig cells. No effect is observed in female carriers due to the dual luteinising hormone (LH)/ follicle stimulating hormone (FSH) signal necessary to promote ovarian stimulation. Transmission is autosomal dominant. Mothers may act as silent carriers, with each son having a 50% chance of displaying this disorder. | MONDO: Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height."
+BMGC_DS05834,BMG_DS016788,"MONDO: A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia."
+BMGC_DS05835,BMG_DS016790,MONDO: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.
+BMGC_DS05836,BMG_DS016799,MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
+BMGC_DS05837,BMG_DS016801,
+BMGC_DS05838,BMG_DS016812,
+BMGC_DS05839,BMG_DS016815,MONDO: Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.
+BMGC_DS05840,BMG_DS016817,
+BMGC_DS05841,BMG_DS016819,"NCI: An autosomal dominant renal phosphate wasting disorder that results in rickets. | MONDO: Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia."
+BMGC_DS05842,BMG_DS016820,"NCI: An autosomal recessive renal phosphate wasting disorder that results in rickets. | MONDO: Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."
+BMGC_DS05843,BMG_DS016821,"NCI: Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. | MONDO: Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia."
+BMGC_DS05844,BMG_DS016823,MeSH: Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels is associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS.
+BMGC_DS05845,BMG_DS016838,ORPHANET: A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. | MONDO: Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.
+BMGC_DS05846,BMG_DS016839,"NCI: An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision. Other abnormalities include nystagmus, strabismus, and photophobia. | MONDO: X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males."
+BMGC_DS05847,BMG_DS016842,ORPHANET: A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
+BMGC_DS05848,BMG_DS016849,"ORPHANET: A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic."
+BMGC_DS05849,BMG_DS016850,"NCI: An autosomal recessive condition caused by mutation(s) in the TCN2 gene, encoding transcobalamin-2. it is characterized by failure to thrive, megaloblastic anemia, and pancytopenia. | MONDO: Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia."
+BMGC_DS05850,BMG_DS016854,"NCI: An autosomal recessive condition caused by mutation(s) in the SCL46A1 gene, encoding proton-coupled folate transporter. It is characterized by low concentrations of folate resulting in megaloblastic anemia, immune deficiency, and neurologic deficits. | MONDO: Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders."
+BMGC_DS05851,BMG_DS016856,"ORPHANET: A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. | MONDO: Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration."
+BMGC_DS05852,BMG_DS016864,"ORPHANET: Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. | MONDO: Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12."
+BMGC_DS05853,BMG_DS016865,"ORPHANET: Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. | MONDO: Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12."
+BMGC_DS05854,BMG_DS016870,"NCI: 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis. | MONDO: 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia."
+BMGC_DS05855,BMG_DS016872,"MeSH: Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash."
+BMGC_DS05856,BMG_DS016874,
+BMGC_DS05857,BMG_DS016875,"ORPHANET: A rare classic organic aciduria characterized by tissue accumulation and elevation of urinary excretion of 3-hydroxyisobutyric acid. The clinical phenotype ranges from recurrent mild episodes of vomiting with normal cognitive development, to massive acidosis, seizures, and failure to thrive with profound intellectual disability and early death. Dysmorphic craniofacial features (such as microcephaly, triangular face, short, sloping forehead, long, prominent philtrum, and micrognathia) and variable cerebral anomalies have also been described. | MONDO: 3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive."
+BMGC_DS05858,BMG_DS016876,"ORPHANET: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the &lt;i&gt; HIBCH&lt;/i&gt; gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. | MONDO: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established."
+BMGC_DS05859,BMG_DS016877,"HPO: Increased concentration of trimethylamine in the urine. [https://orcid.org/0000-0002-0736-9199] | MONDO: A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals."
+BMGC_DS05860,BMG_DS016884,
+BMGC_DS05861,BMG_DS016886,
+BMGC_DS05862,BMG_DS016888,"SNOMEDCT_US: Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterised by an accumulation of glycogen in lysosomes. | MONDO: Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes."
+BMGC_DS05863,BMG_DS016898,"NCI: An autosomal recessive genetic disorder caused by mutations in the GLYCTK gene, encoding glycerate kinase. The condition is characterized by excretion of D-glyceric acid in the urine. The phenotype varies from mild to severe, and may result in encephalopathy, mental retardation, microcephaly and early death. | MONDO: A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21."
+BMGC_DS05864,BMG_DS016901,"ORPHANET: Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. | MONDO: Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment."
+BMGC_DS05865,BMG_DS016907,"NCI: A genetically heterogenous group of disorders characterized by low mitochondrial DNA in specific tissues resulting in impaired energy production. | MONDO: The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome."
+BMGC_DS05866,BMG_DS016908,"NCI: A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive. | MONDO: Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy."
+BMGC_DS05867,BMG_DS016909,"NCI: The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease. | MONDO: Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction."
+BMGC_DS05868,BMG_DS016912,"NCI: An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting. | MONDO: Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma."
+BMGC_DS05869,BMG_DS016913,"NCI: A rare, autosomal recessive inherited disorder of long-chain fatty-acid oxidation caused by mutations in the CPT2 gene. The disease includes three main types: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. | MONDO: Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form."
+BMGC_DS05870,BMG_DS016914,"NCI: An autosomal recessive condition caused by mutation(s) in the SLC25A20 gene, encoding mitochondrial carnitine/acylcarnitine carrier protein. It is characterized by cardiomyopathy, skeletal muscle damage, and liver dysfunction that results from derangement of long-chain fatty acid oxidation. | MONDO: Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy."
+BMGC_DS05871,BMG_DS016915,"ORPHANET: A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. | MONDO: Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis."
+BMGC_DS05872,BMG_DS016916,"SNOMEDCT_US: A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. | MONDO: Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)."
+BMGC_DS05873,BMG_DS016919,"NCI: An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes. | MONDO: An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes."
+BMGC_DS05874,BMG_DS016920,MONDO: An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.
+BMGC_DS05875,BMG_DS016922,"MONDO: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity."
+BMGC_DS05876,BMG_DS016943,"ORPHANET: Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. | MONDO: Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade."
+BMGC_DS05877,BMG_DS016944,
+BMGC_DS05878,BMG_DS016947,
+BMGC_DS05879,BMG_DS016950,"NCI: A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia. | MONDO: Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. | MeSH: Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided."
+BMGC_DS05880,BMG_DS016952,
+BMGC_DS05881,BMG_DS016955,
+BMGC_DS05882,BMG_DS016960,"NCI: A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills. | MONDO: A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease."
+BMGC_DS05883,BMG_DS016962,ORPHANET: A rare inborn error of metabolism characterized by abnormally high urinary excretion of glutaric acid due to peroxisomal glutaryl-CoA oxidase deficiency. There is no association with a specific clinical phenotype. | MONDO: Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.
+BMGC_DS05884,BMG_DS016968,"MeSH: A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age."
+BMGC_DS05885,BMG_DS016969,
+BMGC_DS05886,BMG_DS016970,"NCI: An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. | MONDO: An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease."
+BMGC_DS05887,BMG_DS016975,"SNOMEDCT_US: A form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. The disease is very rare. Corneal opacities are progressive and are observed from an early age (adolescence or young adulthood) and sometimes result in visual impairment. These lesions are generally more severe than in complete LCAT deficiency and form a mosaic pattern of small dot-like gray-white opacities. Signs of atherosclerosis have only been reported in rare cases although patients have low HDL cholesterol levels. In patients with this disorder, alpha-LCAT activity is abolished, but beta-LCAT activity is preserved. Impaired enzyme function is thought to result in deposition of lipids in the cornea. The disease follows an autosomal recessive pattern of inheritance. | MONDO: Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. | MeSH: An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure."
+BMGC_DS05888,BMG_DS016976,"ORPHANET: A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)."
+BMGC_DS05889,BMG_DS016978,"NCI: An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas. | MONDO: A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes."
+BMGC_DS05890,BMG_DS016988,
+BMGC_DS05891,BMG_DS017012,
+BMGC_DS05892,BMG_DS017036,"NCI: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections. | MONDO: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections."
+BMGC_DS05893,BMG_DS017039,"MONDO: Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy. | MeSH: A skin condition, typically emerges suddenly and frequently occurs after an infection such as STREPTOCOCCAL INFECTION. While prevalent among children, it can also manifest in young adults. Its defining feature is the eruption of small, red, scaly patches that typically appear on the arms, legs, and torso."
+BMGC_DS05894,BMG_DS017041,"ORPHANET: Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis. | MONDO: A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time."
+BMGC_DS05895,BMG_DS017042,"ORPHANET: Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. | MONDO: Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma."
+BMGC_DS05896,BMG_DS017045,"NCI: A raised, inflamed skin reaction to pressure from rubbing or scratching."
+BMGC_DS05897,BMG_DS017046,"NCI: An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by short episodes of fever, rash, and arthralgia after exposure to cold or rapid decrease in temperature. | MONDO: Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."
+BMGC_DS05898,BMG_DS017049,"HPO: The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. [PMID:20464096] | MONDO: Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair."
+BMGC_DS05899,BMG_DS017055,
+BMGC_DS05900,BMG_DS017057,"MONDO: Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia. | MeSH: A rare cutaneous thrombotic disease due to occlusion of dermal vessels. It is characterized by purpuric maculae and ulcerations especially during summer which form scars called atrophie blanche. It is more associated with other syndromes (e.g., PROTEIN C DEFICIENCY; HYPERHOMOCYSTEINEMIA). Livedo reticularis with systemic involvement and stroke is SNEDDON SYNDROME."
+BMGC_DS05901,BMG_DS017058,"NCI: A capillary hemangioma of the skin, presenting as a red papular lesion. | MONDO: A capillary hemangioma of the skin, presenting as a red papular lesion."
+BMGC_DS05902,BMG_DS017060,"MONDO: A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure. | MeSH: A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE."
+BMGC_DS05903,BMG_DS017062,
+BMGC_DS05904,BMG_DS017063,MeSH: Skin diseases involving the FACE.
+BMGC_DS05905,BMG_DS017067,"ORPHANET: A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein. | MONDO: Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne."
+BMGC_DS05906,BMG_DS017068,"ORPHANET: A rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. | MONDO: Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth."
+BMGC_DS05907,BMG_DS017070,"ORPHANET: Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. | MONDO: Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi."
+BMGC_DS05908,BMG_DS017071,"MONDO: Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin. | MeSH: A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology."
+BMGC_DS05909,BMG_DS017092,"NCI: A form of vasculitis that involves small to medium size arteries of the dermis and subcutaneous tissue. The disorder manifests with tender subcutaneous nodules, livedo reticularis, cutaneous ulcers and necrosis; while internal organ involvement is typically spared, extra-cutaneous symptoms may be present. | MONDO: Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy."
+BMGC_DS05910,BMG_DS017103,
+BMGC_DS05911,BMG_DS017106,"ORPHANET: A rare immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C3, C4 and/or C1q), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation are common systemic manifestations. | MONDO: Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations."
+BMGC_DS05912,BMG_DS017150,
+BMGC_DS05913,BMG_DS017158,NCI: A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. | MONDO: A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production.
+BMGC_DS05914,BMG_DS017175,
+BMGC_DS05915,BMG_DS017201,NCI: Inflammation of the stomach that is associated with Helicobacter Pylori.
+BMGC_DS05916,BMG_DS017208,
+BMGC_DS05917,BMG_DS017218,"MONDO: A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. | MeSH: Infection with parasitic protozoa of the genus CYCLOSPORA. It is distributed globally and causes a diarrheal illness. Transmission is waterborne."
+BMGC_DS05918,BMG_DS017221,"MONDO: Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins."
+BMGC_DS05919,BMG_DS017222,
+BMGC_DS05920,BMG_DS017270,
+BMGC_DS05921,BMG_DS017285,
+BMGC_DS05922,BMG_DS017296,
+BMGC_DS05923,BMG_DS017322,"NCI: A self-limited, febrile illness without pneumonia that occurs in epidemics, and that is caused by Legionella species. | MONDO: Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia. | MeSH: An acute, sometimes fatal, pneumonia-like bacterial infection characterized by high fever, malaise, muscle aches, respiratory disorders and headache. It is named for an outbreak at the 1976 Philadelphia convention of the American Legion."
+BMGC_DS05924,BMG_DS017325,"ORPHANET: Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a &lt;i&gt;Streptococcus pyogenes&lt;/i&gt; infection. | MONDO: Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection."
+BMGC_DS05925,BMG_DS017417,NCI: An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth. | MONDO: An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.
+BMGC_DS05926,BMG_DS017469,
+BMGC_DS05927,BMG_DS017482,
+BMGC_DS05928,BMG_DS017498,
+BMGC_DS05929,BMG_DS017500,"MONDO: Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611). | MeSH: Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than HIV infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)."
+BMGC_DS05930,BMG_DS017503,
+BMGC_DS05931,BMG_DS017559,
+BMGC_DS05932,BMG_DS017560,
+BMGC_DS05933,BMG_DS017580,
+BMGC_DS05934,BMG_DS017602,
+BMGC_DS05935,BMG_DS017646,MONDO: Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. | MeSH: Fungal infections caused by TRICHOSPORON that may become systemic especially in an IMMUNOCOMPROMISED HOST. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.
+BMGC_DS05936,BMG_DS017647,MeSH: Fungal infections caused by TRICHOSPORON that may become systemic especially in an IMMUNOCOMPROMISED HOST. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.
+BMGC_DS05937,BMG_DS017666,"MeSH: Infection in humans and animals caused by fungi in the class Zygomycetes. It includes MUCORMYCOSIS and entomophthoramycosis. The latter is a tropical infection of subcutaneous tissue or paranasal sinuses caused by fungi in the order Entomophthorales. Phycomycosis, closely related to zygomycosis, describes infection with members of Phycomycetes, an obsolete classification."
+BMGC_DS05938,BMG_DS017792,"HPO: Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. [https://orcid.org/0000-0002-0736-9199] | MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS05939,BMG_DS017802,
+BMGC_DS05940,BMG_DS017803,"HPO: Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:18179896]"
+BMGC_DS05941,BMG_DS017805,MONDO: A neurodegenerative disease that involves the optic choroid.
+BMGC_DS05942,BMG_DS017808,"NCI: An overwhelming, irrational, and persistent fear of traveling in an aircraft. | MONDO: An overwhelming, irrational, and persistent fear of traveling in an aircraft."
+BMGC_DS05943,BMG_DS017824,NCI: A ventricular tachycardia that is irregular in rate and rhythm. | MONDO: A ventricular tachycardia that is irregular in rate and rhythm.
+BMGC_DS05944,BMG_DS017826,NCI: A primary or metastatic malignant neoplasm affecting the adrenal medulla. | MONDO: A malignant neoplasm involving the adrenal medulla
+BMGC_DS05945,BMG_DS017827,NCI: A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases. | MONDO: A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases.
+BMGC_DS05946,BMG_DS017829,"MONDO: Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery."
+BMGC_DS05947,BMG_DS017833,"HPO: A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS05948,BMG_DS017834,"HPO: Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. [https://orcid.org/0000-0002-0736-9199, PMID:19496508, PMID:9158139] | MONDO: Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens."
+BMGC_DS05949,BMG_DS017836,"HPO: Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. [https://orcid.org/0000-0002-0736-9199] | MONDO: A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies."
+BMGC_DS05950,BMG_DS017837,
+BMGC_DS05951,BMG_DS017838,
+BMGC_DS05952,BMG_DS017839,
+BMGC_DS05953,BMG_DS017841,"HPO: A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. [https://orcid.org/0000-0002-0736-9199] | MONDO: Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane."
+BMGC_DS05954,BMG_DS017851,"HPO: A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). [https://orcid.org/0000-0002-0736-9199] | MONDO: Patent ductus venosus (PDV) is an extremely rare form of congenital portosystemic shunt that results in the diversion of portal blood into the systemic circulation. Failure of DV closure after birth leads to PDV. PDV results in portal venous blood bypassing the liver and directly entering the systemic circulation, decreasing hepatic blood flow and increasing blood volume and toxic substances in the systemic circulation."
+BMGC_DS05955,BMG_DS017853,"HPO: A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:17948095]"
+BMGC_DS05956,BMG_DS017859,"HPO: A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS05957,BMG_DS017860,"HPO: An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199, PMID:16172274]"
+BMGC_DS05958,BMG_DS017863,NCI: A congenital heart defect characterized by the complete atresia of the mitral valve. | MONDO: A congenital heart defect characterized by the complete atresia of the mitral valve.
+BMGC_DS05959,BMG_DS017879,HPO: Enlargement of the chamber of the left heart ventricle. []
+BMGC_DS05960,BMG_DS017883,"NCI: A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment. | MONDO: Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia."
+BMGC_DS05961,BMG_DS017884,"NCI: Pulmonary valve atresia not associated with a ventricular septal defect. | MONDO: Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation."
+BMGC_DS05962,BMG_DS017885,"NCI: Pulmonary valve atresia associated with the presence of a large ventricular septal defect. It may be a severe form of tetralogy of Fallot. | MONDO: Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot."
+BMGC_DS05963,BMG_DS017889,MONDO: An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
+BMGC_DS05964,BMG_DS017891,HPO: Stenosis of a peripheral branch of the pulmonary artery. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS05965,BMG_DS017894,"ORPHANET: Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner."
+BMGC_DS05966,BMG_DS017905,"ORPHANET: A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress."
+BMGC_DS05967,BMG_DS017916,NCI: A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease. | MONDO: A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.
+BMGC_DS05968,BMG_DS017923,"HPO: The male foreskin cannot be fully retracted from the head of the penis. [https://orcid.org/0009-0006-4530-3154] | MONDO: A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes."
+BMGC_DS05969,BMG_DS017925,"HPO: Congenital anomaly characterized by closure or failure to develop an opening in the urethra. [https://orcid.org/0000-0002-0736-9199] | MONDO: Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development."
+BMGC_DS05970,BMG_DS017929,HPO: An abnormal shortening of the femur. [https://orcid.org/0000-0002-0736-9199] | MONDO: Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
+BMGC_DS05971,BMG_DS017931,"NCI: A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures. | MONDO: Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."
+BMGC_DS05972,BMG_DS017932,ORPHANET: Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality. | MONDO: Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality.
+BMGC_DS05973,BMG_DS017933,"HPO: A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. [PMID:22483320, PMID:25864701] | MONDO: Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin."
+BMGC_DS05974,BMG_DS017934,
+BMGC_DS05975,BMG_DS017949,HPO: A tumor (abnormal growth of tissue) of the middle ear. [https://orcid.org/0000-0002-0736-9199] | MONDO: A neoplasm (disease) that involves the middle ear.
+BMGC_DS05976,BMG_DS017952,NCI: A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. | MONDO: A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
+BMGC_DS05977,BMG_DS017954,NCI: A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. | MONDO: A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
+BMGC_DS05978,BMG_DS017956,NCI: A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. | MONDO: A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.
+BMGC_DS05979,BMG_DS017958,NCI: A benign or malignant neoplasm that affects the glottic area of the larynx. | MONDO: A benign or malignant neoplasm that affects the glottic area of the larynx.
+BMGC_DS05980,BMG_DS017959,NCI: A benign or malignant neoplasm that affects the supraglottic area of the larynx. | MONDO: A benign or malignant neoplasm that affects the supraglottic area of the larynx.
+BMGC_DS05981,BMG_DS017960,NCI: A benign or malignant neoplasm that affects the subglottic area of the larynx. | MONDO: A benign or malignant neoplasm that affects the subglottic area of the larynx.
+BMGC_DS05982,BMG_DS017963,NCI: A carcinoma that arises from the fundus of the stomach. | MONDO: A carcinoma that arises from epithelial cells of the fundus of stomach.
+BMGC_DS05983,BMG_DS017965,NCI: A carcinoma that arises from the body of the stomach. | MONDO: A carcinoma that arises from epithelial cells of the body of stomach.
+BMGC_DS05984,BMG_DS017967,"HPO: The presence of a neoplasm of the small intestine. [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma."
+BMGC_DS05985,BMG_DS017970,"MONDO: A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms."
+BMGC_DS05986,BMG_DS017972,MONDO: Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.
+BMGC_DS05987,BMG_DS017974,"MONDO: An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma."
+BMGC_DS05988,BMG_DS017975,"MONDO: A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. | MeSH: A carcinoma that originates in the intrahepatic bile duct epithelium of the intrahepatic biliary tree. Malignant lesions are solid, nodular, and grayish. Most cases are adenocarcinomas. Somatic mutations in BAP1, ARID1A, PBRM1, IDH1, and IDH2 genes have been identified. OMIM: 615619"
+BMGC_DS05989,BMG_DS017976,"NCI: A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma. | MONDO: A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma."
+BMGC_DS05990,BMG_DS017977,NCI: A malignant vascular neoplasm arising from the liver. | MONDO: A malignant vascular neoplasm arising from the liver.
+BMGC_DS05991,BMG_DS017981,NCI: A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma. | MONDO: A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.
+BMGC_DS05992,BMG_DS017983,NCI: A benign or malignant neoplasm involving the ampulla of Vater. | MONDO: A benign or malignant neoplasm involving the ampulla of Vater.
+BMGC_DS05993,BMG_DS017986,NCI: An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes. | MONDO: An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes.
+BMGC_DS05994,BMG_DS017987,"NCI: A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor. | MONDO: A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor."
+BMGC_DS05995,BMG_DS017988,"HPO: A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. [https://orcid.org/0000-0002-0736-9199] | MONDO: A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection."
+BMGC_DS05996,BMG_DS017989,
+BMGC_DS05997,BMG_DS017990,NCI: A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion. | MONDO: A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.
+BMGC_DS05998,BMG_DS017992,"NCI: A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma. | MONDO: A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma."
+BMGC_DS05999,BMG_DS017993,"HPO: Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. [https://orcid.org/0009-0006-4530-3154] | MONDO: A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos."
+BMGC_DS06000,BMG_DS017996,NCI: A squamous cell carcinoma of the skin with a prominent clear cell component. | MONDO: A squamous cell carcinoma of the skin with a prominent clear cell component.
+BMGC_DS06001,BMG_DS017997,NCI: A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis. | MONDO: A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis.
+BMGC_DS06002,BMG_DS017999,"NCI: A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae."
+BMGC_DS06003,BMG_DS018000,MONDO: A squamous papilloma that involves the zone of skin.
+BMGC_DS06004,BMG_DS018002,"HPO: A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. [NCIT:C4463] | MONDO: A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands."
+BMGC_DS06005,BMG_DS018006,"MONDO: A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes. | MeSH: Benign follicular tumor usually of the upper lip."
+BMGC_DS06006,BMG_DS018007,NCI: A tumor involving the follicular infundibulum.
+BMGC_DS06007,BMG_DS018008,"MONDO: Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene. | MeSH: Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein)."
+BMGC_DS06008,BMG_DS018009,"NCI: A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course. | MONDO: A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course."
+BMGC_DS06009,BMG_DS018010,MONDO: A adenoid cystic carcinoma that involves the skin of body.
+BMGC_DS06010,BMG_DS018011,NCI: A rare carcinoma of the skin. It is characterized by epidermoid cells interspersed with glandular cells. | MONDO: A mucoepidermoid carcinoma that involves the zone of skin.
+BMGC_DS06011,BMG_DS018013,"NCI: A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures. | MONDO: A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures."
+BMGC_DS06012,BMG_DS018016,"NCI: A benign, intermediate, or malignant neoplasm that arises from the dermis. | MONDO: A benign, intermediate, or malignant neoplasm that arises from the dermis."
+BMGC_DS06013,BMG_DS018017,"NCI: A skin neoplasm composed of fibrohistiocytic cells, spindle fibrous cells, and histiocytes in a storiform pattern."
+BMGC_DS06014,BMG_DS018018,"NCI: A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages. | MONDO: A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages."
+BMGC_DS06015,BMG_DS018020,MONDO: A granular cell tumor that involves the zone of skin.
+BMGC_DS06016,BMG_DS018021,NCI: A ganglioneuroma arising from the skin. | MONDO: A ganglioneuroma arising from the skin.
+BMGC_DS06017,BMG_DS018022,"HPO: The presence of leiomyoma of the skin. [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS06018,BMG_DS018024,"HPO: The presence of leiomyosarcoma of the skin. [https://orcid.org/0000-0002-0736-9199] | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS06019,BMG_DS018026,"ORPHANET: A rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. | MONDO: Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia."
+BMGC_DS06020,BMG_DS018027,"HPO: A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. [https://orcid.org/0000-0002-0736-9199, PMID:2644316] | MONDO: Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood."
+BMGC_DS06021,BMG_DS018028,
+BMGC_DS06022,BMG_DS018030,NCI: A malignant vascular neoplasm arising from the skin. | MONDO: A malignant vascular neoplasm arising from the skin.
+BMGC_DS06023,BMG_DS018032,NCI: A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site. | MONDO: A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site.
+BMGC_DS06024,BMG_DS018036,MONDO: Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.
+BMGC_DS06025,BMG_DS018037,NCI: An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. | MONDO: An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.
+BMGC_DS06026,BMG_DS018038,"NCI: A rare malignant mesothelioma that arises from the pericardium. Clinical presentation includes pericardial effusion, congestive heart failure, a mass or cardiac tamponade. Surgical resection is the treatment of choice. Adjunct treatments of chemotherapy or radiation have not improved outcomes. The prognosis is extremely poor due to its late presentation and difficulty obtaining complete surgical excision. In most cases the diagnosis is made at autopsy or postoperatively."
+BMGC_DS06027,BMG_DS018041,"NCI: A mesenchymal neoplasm composed of adipose (fatty) tissue. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases. | MONDO: A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma."
+BMGC_DS06028,BMG_DS018042,NCI: An infiltrating ductal breast carcinoma associated with stromal fibrosis. | MONDO: An infiltrating ductal breast carcinoma associated with stromal fibrosis.
+BMGC_DS06029,BMG_DS018043,"ORPHANET: A rare genetic, malignant breast tumor characterized by early onset breast cancer in association with a germline mutation. Tumors arising in carriers of &lt;i&gt;BRCA1&lt;/i&gt; and &lt;i&gt;BRCA2&lt;/i&gt; mutations differ morphologically and genetically from each other, as well as from sporadic breast cancers. Most &lt;i&gt;BRCA1&lt;/i&gt;-associated tumors are invasive ductal adenocarcinomas of no special type, typically of higher grade than sporadic tumors, and more often negative for hormone receptors. In addition, more cases with features of typical or atypical medullary carcinoma are seen in these patients. Likewise, &lt;i&gt;BRCA2&lt;/i&gt;-associated tumors tend to be of higher grade than sporadic ones, although their phenotype is similar. They show a low frequency of HER-2 expression. | MONDO: Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
+BMGC_DS06030,BMG_DS018044,"NCI: A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present. | MONDO: A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present."
+BMGC_DS06031,BMG_DS018046,NCI: A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity. | MONDO: A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity.
+BMGC_DS06032,BMG_DS018047,NCI: A breast fibroadenoma that usually occurs in young women. It is characterized by epithelial hyperplasia and an increased stromal cellularity.
+BMGC_DS06033,BMG_DS018048,"MONDO: An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor."
+BMGC_DS06034,BMG_DS018049,"ORPHANET: A rare malignant epithelial tumor of ovary characterized by confluent or cribriform proliferations of round, oval, or tubular glands, typically lined by stratified non-mucin-containing epithelium with well-defined luminal margins. Squamous differentiation, secretory changes, oxyphilic variants, sex cord-stromal type patterns, or sertoliform endometrioid carcinomas may occur. Patients most commonly present in the sixth decade of life, either with a pelvic mass with or without pain, or without any symptoms. The tumor may be bilateral and is frequently associated with endometriosis and/or endometrial carcinoma. | MONDO: An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma."
+BMGC_DS06035,BMG_DS018052,"NCI: An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor. | MONDO: An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor."
+BMGC_DS06036,BMG_DS018053,"HPO: A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare. [PMID:30725635] | MONDO: A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells."
+BMGC_DS06037,BMG_DS018054,NCI: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells. | MONDO: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.
+BMGC_DS06038,BMG_DS018057,"ORPHANET: Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen. | MONDO: Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen."
+BMGC_DS06039,BMG_DS018058,MONDO: A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma.
+BMGC_DS06040,BMG_DS018059,"MONDO: A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients."
+BMGC_DS06041,BMG_DS018060,MONDO: An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.
+BMGC_DS06042,BMG_DS018061,"MONDO: A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage."
+BMGC_DS06043,BMG_DS018062,"MONDO: A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular."
+BMGC_DS06044,BMG_DS018064,MONDO: A carcinoma in situ involving a endometrium.
+BMGC_DS06045,BMG_DS018065,NCI: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins. | MONDO: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins.
+BMGC_DS06046,BMG_DS018066,MONDO: An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.
+BMGC_DS06047,BMG_DS018069,"HPO: A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens. [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma."
+BMGC_DS06048,BMG_DS018070,NCI: A rare kidney neoplasm of low malignant potential. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. It usually presents as a unilateral solitary mass. | MONDO: A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells.
+BMGC_DS06049,BMG_DS018071,HPO: A sarcoma of the kidney. [https://orcid.org/0000-0002-0736-9199] | MONDO: A sarcoma involving a kidney.
+BMGC_DS06050,BMG_DS018072,"HPO: A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. [https://orcid.org/0000-0002-9113-2978] | MONDO: A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions."
+BMGC_DS06051,BMG_DS018073,NCI: A rare solitary fibrous tumor arising from the kidney.
+BMGC_DS06052,BMG_DS018074,NCI: A neoplasm involving the renal pelvis. | MONDO: A neoplasm (disease) that involves the renal pelvis.
+BMGC_DS06053,BMG_DS018077,NCI: A malignant neoplasm that arises from the choroid plexus. The vast majority are carcinomas. | MONDO: A malignant neoplasm involving the choroid plexus
+BMGC_DS06054,BMG_DS018079,MONDO: A oligodendroglioma that involves the spinal cord.
+BMGC_DS06055,BMG_DS018080,"HPO: A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS. [https://orcid.org/0000-0002-0538-4547, NCIT:C4536, PMID:15741248] | MONDO: A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly."
+BMGC_DS06056,BMG_DS018081,
+BMGC_DS06057,BMG_DS018082,"ORPHANET: A rare, functioning, pituitary adenoma characterized by the presence of a pituitary mass associated with high levels of circulating, free, thyroid hormones in conjunction with normal to high levels of TSH and unresponsiveness of TSH levels to TRH stimulation and T3 suppression tests, typically manifesting with signs and symptoms of mild to moderate hyperthyroidism (e.g. goiter (most frequently observed), palpitation, excessive sweating, arrhythmia, weight loss, tremor) and/or tumor mass effect (such as headache, visual field defects, hypopituitarism). Occasionally, cosecretion of prolactin and/or growth hormone may cause galactorrhea and/or acromegaly. | MONDO: A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism."
+BMGC_DS06058,BMG_DS018086,"MONDO: A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. | MeSH: Glial cell derived tumors arising from the optic nerve, usually presenting in childhood."
+BMGC_DS06059,BMG_DS018087,HPO: A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. [ISBN-13:978-0199552641] | MONDO: A meningioma that affects the sheath of the optic nerve.
+BMGC_DS06060,BMG_DS018089,"NCI: A primary or metastatic malignant neoplasm affecting the eighth cranial nerve, also referred to as the vestibulocochlear nerve. | MONDO: A malignant neoplasm involving the vestibulocochlear nerve."
+BMGC_DS06061,BMG_DS018090,"NCI: A carcinoma that arises from the lacrimal gland. It is characterized by the presence of malignant epithelial cells that form cribriform, tubular, and solid patterns. | MONDO: A adenoid cystic carcinoma that involves the lacrimal gland."
+BMGC_DS06062,BMG_DS018091,NCI: An adenocarcinoma that arises from the lacrimal gland. | MONDO: A carcinoma that arises from glandular epithelial cells of the lacrimal gland
+BMGC_DS06063,BMG_DS018092,NCI: A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland. | MONDO: A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland.
+BMGC_DS06064,BMG_DS018093,NCI: A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit. | MONDO: A malignant mesenchymal neoplasm with skeletal muscle differentiation that arises from the orbit.
+BMGC_DS06065,BMG_DS018094,NCI: A cavernous hemangioma arising from the orbit. | MONDO: A cavernous hemangioma arising from the orbit.
+BMGC_DS06066,BMG_DS018095,"NCI: A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain. | MONDO: A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain."
+BMGC_DS06067,BMG_DS018096,MONDO: A malignant melanoma within the conjunctiva of the eye.
+BMGC_DS06068,BMG_DS018098,NCI: A rare squamous cell carcinoma that arises from the cornea. | MONDO: A rare squamous cell carcinoma that arises from the cornea.
+BMGC_DS06069,BMG_DS018099,NCI: A melanoma that arises from the cornea. | MONDO: A melanoma within the cornea of the eye.
+BMGC_DS06070,BMG_DS018100,NCI: A malignant neoplasm that affects the iris. This category includes primary iris melanoma and metastatic malignant neoplasms in the iris. | MONDO: A malignant neoplasm involving the iris.
+BMGC_DS06071,BMG_DS018101,HPO: Malignant tumor of melanocytes affecting the iris. [HPO_CONTRIBUTOR:DDD_ncarter] | MONDO: A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.
+BMGC_DS06072,BMG_DS018103,"HPO: Malignant tumor of melanocytes of the ciliary body. [https://orcid.org/0000-0002-0736-9199] | MONDO: A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor."
+BMGC_DS06073,BMG_DS018105,"HPO: Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented). [https://orcid.org/0000-0002-0736-9199, PMID:22557869] | MONDO: A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis."
+BMGC_DS06074,BMG_DS018107,NCI: A primary or metastatic malignant neoplasm affecting the adrenal cortex. | MONDO: A cancer that involves the adrenal cortex.
+BMGC_DS06075,BMG_DS018110,"NCI: A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of ""idiopathic hypereosinophilic syndrome"" is preferred. (WHO, 2001)"
+BMGC_DS06076,BMG_DS018111,NCI: A malignant vascular neoplasm arising from the spleen. | MONDO: A malignant vascular neoplasm arising from the spleen.
+BMGC_DS06077,BMG_DS018113,
+BMGC_DS06078,BMG_DS018114,NCI: A primary or metastatic malignant neoplasm that affects the pericardium. | MONDO: A malignant neoplasm involving the pericardium.
+BMGC_DS06079,BMG_DS018115,
+BMGC_DS06080,BMG_DS018116,NCI: A primary or metastatic malignant neoplasm that affects the myocardium. | MONDO: A malignant neoplasm involving the myocardium.
+BMGC_DS06081,BMG_DS018117,NCI: A malignant neoplasm that affects the endocardium. | MONDO: A malignant neoplasm involving the endocardium.
+BMGC_DS06082,BMG_DS018118,MONDO: A gastrointestinal system cancer that is located in the proximal esophagus and the distal stomach.
+BMGC_DS06083,BMG_DS018119,MONDO: A malignant neoplasm involving the intestine
+BMGC_DS06084,BMG_DS018120,"NCI: A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. | MONDO: A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
+BMGC_DS06085,BMG_DS018121,NCI: A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. | MONDO: A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue.
+BMGC_DS06086,BMG_DS018122,NCI: A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare. | MONDO: A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare.
+BMGC_DS06087,BMG_DS018123,NCI: A malignancy that affects the dermis. | MONDO: A malignant neoplasm involving the dermis.
+BMGC_DS06088,BMG_DS018124,
+BMGC_DS06089,BMG_DS018125,NCI: A primary or metastatic malignant neoplasm that affects the broad ligament. | MONDO: A malignant neoplasm involving the broad ligament of uterus.
+BMGC_DS06090,BMG_DS018126,MONDO: A malignant neoplasm involving the round ligament of uterus.
+BMGC_DS06091,BMG_DS018127,MONDO: A cancer involving a dorsal plus ventral thalamus.
+BMGC_DS06092,BMG_DS018129,NCI: Evidence of a malignant neoplasm of the cerebral ventricle.
+BMGC_DS06093,BMG_DS018130,NCI: A Kaposi sarcoma arising from the conjunctiva.
+BMGC_DS06094,BMG_DS018131,NCI: A Kaposi sarcoma arising from the cornea.
+BMGC_DS06095,BMG_DS018132,NCI: A primary or metastatic malignant neoplasm that affects the structures of the chest wall. Representative examples include lymphoma and chondrosarcoma. | MONDO: A cancer that involves the chest wall.
+BMGC_DS06096,BMG_DS018133,"NCI: The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site. | MONDO: The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site."
+BMGC_DS06097,BMG_DS018138,MONDO: A in situ carcinoma that involves the nasal cavity.
+BMGC_DS06098,BMG_DS018146,
+BMGC_DS06099,BMG_DS018153,"NCI: A neoplasm that arises from the nasal cavity and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. Representative examples include Schneiderian papilloma and salivary gland-type adenoma. | MONDO: A benign neoplasm that involves the nasal cavity."
+BMGC_DS06100,BMG_DS018160,"NCI: A neoplasm that arises from the colon or rectum and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential. | MONDO: A benign neoplasm that involves the large intestine."
+BMGC_DS06101,BMG_DS018166,"MONDO: A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin."
+BMGC_DS06102,BMG_DS018167,NCI: A benign adipose tissue neoplasm arising from the skin. | MONDO: A benign or malignant adipose tissue neoplasm of the skin.
+BMGC_DS06103,BMG_DS018172,ORPHANET: A rare group of malformation characterized by the presence of lipomatous mass in direct contact with the spinal cord. It includes dysraphic (extramedullary) spinal cord lipomas and non-dysraphic (intramedullary) spinal cord lipoma. | MONDO: A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.
+BMGC_DS06104,BMG_DS018177,"NCI: A meningioma that affects the spinal cord. | MONDO: Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent."
+BMGC_DS06105,BMG_DS018194,"MeSH: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)"
+BMGC_DS06106,BMG_DS018223,
+BMGC_DS06107,BMG_DS018225,"MeSH: Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes."
+BMGC_DS06108,BMG_DS018229,
+BMGC_DS06109,BMG_DS018352,
+BMGC_DS06110,BMG_DS018353,
+BMGC_DS06111,BMG_DS018354,"HPO: A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. [https://orcid.org/0000-0002-0736-9199] | MONDO: A malignant neoplasm involving the central nervous system"
+BMGC_DS06112,BMG_DS018363,
+BMGC_DS06113,BMG_DS018365,
+BMGC_DS06114,BMG_DS018368,
+BMGC_DS06115,BMG_DS018379,
+BMGC_DS06116,BMG_DS018384,NCI: Evidence of other sphingolipidosis not specified elsewhere.
+BMGC_DS06117,BMG_DS018443,
+BMGC_DS06118,BMG_DS018446,
+BMGC_DS06119,BMG_DS018518,NCI: Evidence of other specified diseases of liver not specified elsewhere.
+BMGC_DS06120,BMG_DS018582,NCI: Endocarditis caused by bacterial infection with Listeria species.
+BMGC_DS06121,BMG_DS018590,NCI: Aplastic anemia without a known cause. | MONDO: Aplastic anemia without a known cause.
+BMGC_DS06122,BMG_DS018595,
+BMGC_DS06123,BMG_DS018617,NCI: Evidence of other specified diabetes mellitus with unspecified complication not specified elsewhere.
+BMGC_DS06124,BMG_DS018663,"MeSH: Meningeal inflammation produced by CRYPTOCOCCUS NEOFORMANS, an encapsulated yeast that tends to infect individuals with ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature HEADACHE; NAUSEA; PHOTOPHOBIA; focal neurologic deficits; SEIZURES; cranial neuropathies; and HYDROCEPHALUS. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)"
+BMGC_DS06125,BMG_DS018683,"MONDO: An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. | MeSH: Anxiety disorders in which the essential feature is persistent and irrational fear of a specific object, activity, or situation that the individual feels compelled to avoid."
+BMGC_DS06126,BMG_DS018684,NCI: Insomnia as a result of an extrinsic cause. | MeSH: Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.
+BMGC_DS06127,BMG_DS018713,"MONDO: Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed. | MeSH: An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)"
+BMGC_DS06128,BMG_DS018726,"NCI: Hypoxia in utero, caused by conditions such as inadequate placental function (often abruptio placentae), preeclamptic toxicity, prolapse of the umbilical cord, or complications from anesthetic administration. | MeSH: Deficient oxygenation of FETAL BLOOD."
+BMGC_DS06129,BMG_DS018736,NCI: A benign tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. | MONDO: A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.
+BMGC_DS06130,BMG_DS018737,MONDO: The response of human skin to sun exposure.
+BMGC_DS06131,BMG_DS018740,"NCI: A rare cutaneous melanoma where most of the melanoma tumor cells are devoid of melanin pigment. Amelanotic melanomas are more likely to present at a more advanced stage of disease, compared with pigmented melanomas. | MONDO: A amelanotic melanoma that involves the zone of skin."
+BMGC_DS06132,BMG_DS018750,"NCI: An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present. | MONDO: An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present."
+BMGC_DS06133,BMG_DS018751,HPO: Lymphoma that originates in the stomach itself. [] | MONDO: An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.
+BMGC_DS06134,BMG_DS018752,"NCI: A carcinoma arising in the anal margin or perianal skin (below the anal verge and involving the perianal hair-bearing skin). It includes basal cell and squamous cell carcinoma. Anal margin carcinoma is staged as a skin carcinoma, separately from anal canal carcinoma. | MONDO: A carcinoma that arises from epithelial cells of the perianal skin"
+BMGC_DS06135,BMG_DS018753,"NCI: A well differentiated, low grade neuroendocrine neoplasm that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. | MONDO: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent."
+BMGC_DS06136,BMG_DS018755,"NCI: A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor. | MONDO: A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor."
+BMGC_DS06137,BMG_DS018756,NCI: An aggressive malignant melanocytic neoplasm that arises from the rectum. | MONDO: An aggressive malignant melanocytic neoplasm that arises from the rectum.
+BMGC_DS06138,BMG_DS018757,NCI: A low or high grade astrocytoma that arises in the spinal cord. | MONDO: A low or high grade astrocytoma that arises in the spinal cord.
+BMGC_DS06139,BMG_DS018758,"NCI: A glioblastoma that arises from the brain, usually the cerebral hemispheres. | MONDO: A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor."
+BMGC_DS06140,BMG_DS018759,NCI: A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement. | MONDO: A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement.
+BMGC_DS06141,BMG_DS018761,"ORPHANET: A form of gestational trophoblastic neoplasia characterized histologically by trophoblast proliferation, absence of chorionic villi (except in cases of intraplacental choriocarcinoma) and tissue necrosis with bleeding. The tumor occurs secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. Indicative signs are persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after removal of a hydatidiform mole; persistent unexplained metrorrhagia following spontaneous abortion or VTP; occasionally unexplained metrorrhagia in the weeks or months following normal childbirth or an ectopic pregnancy. Occasionally, metastases (lung, liver, brain, kidneys, vagina) are indicative signs in women of childbearing age. | MONDO: Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole."
+BMGC_DS06142,BMG_DS018762,"NCI: A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma. | MONDO: A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma."
+BMGC_DS06143,BMG_DS018765,HPO: A carcinoma derived from a squamous epithelial cell of the tongue. [https://orcid.org/0000-0002-0736-9199] | MONDO: A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.
+BMGC_DS06144,BMG_DS018766,NCI: A benign or malignant neoplasm that affects the pericardium. | MONDO: A neoplasm (disease) that involves the pericardium.
+BMGC_DS06145,BMG_DS018768,"NCI: A malignant neoplasm that affects the external ear. Representative examples include squamous cell carcinoma, basal cell carcinoma, and ceruminous adenocarcinoma. | MONDO: A malignant neoplasm involving the external ear."
+BMGC_DS06146,BMG_DS018769,"MONDO: OBSOLETE. A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia). | MONDO: A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent. | MeSH: Benign proliferation of the ENDOMETRIUM in the UTERUS. Endometrial hyperplasia is classified by its cytology and glandular tissue. There are simple, complex (adenomatous without atypia), and atypical hyperplasia representing also the ascending risk of becoming malignant. | MeSH: A benign form of endometrial hyperplasia with crowded endometrial glands and little stroma between the glands. Complex hyperplasia has low risk of progression to endometrial carcinoma."
+BMGC_DS06147,BMG_DS018770,"MONDO: An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear. | MONDO: OBSOLETE. A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia). | MeSH: A benign form of endometrial hyperplasia with increased number of cells with atypia. The atypical cells are large and irregular and have an increased nuclear/cytoplasmic ratio. The risk of progression to endometrial carcinoma rises with the increasing degree of cell atypia. | MeSH: Benign proliferation of the ENDOMETRIUM in the UTERUS. Endometrial hyperplasia is classified by its cytology and glandular tissue. There are simple, complex (adenomatous without atypia), and atypical hyperplasia representing also the ascending risk of becoming malignant."
+BMGC_DS06148,BMG_DS018771,NCI: A benign schwannoma occurring in the trigeminal nerve. | MONDO: A schwannoma that involves the trigeminal nerve.
+BMGC_DS06149,BMG_DS018775,NCI: A meningioma that arises within the cranial cavity. | MONDO: A meningioma that arises within the cranial cavity.
+BMGC_DS06150,BMG_DS018776,"MONDO: A congenital or acquired cyst that is present in the central nervous system. | MeSH: Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement."
+BMGC_DS06151,BMG_DS018781,NCI: A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis. | MONDO: A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.
+BMGC_DS06152,BMG_DS018782,"NCI: A germ cell tumor that arises in the pineal region. Representative examples include teratoma, germinoma, and choriocarcinoma."
+BMGC_DS06153,BMG_DS018783,NCI: A solitary fibrous tumor that arises from the meninges. | MONDO: A solitary fibrous tumor/hemangiopericytoma that arises from the meninges.
+BMGC_DS06154,BMG_DS018784,
+BMGC_DS06155,BMG_DS018787,"NCI: Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. | MONDO: Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm."
+BMGC_DS06156,BMG_DS018789,"ORPHANET: A rare, malignant splenic B-cell lymphoma/leukemia characterized by circulating abnormal lymphocytes with intermediate morphology between prolymphocytes and hairy cells with positive expression of CD11c and negative expression of CD25, CD123 and the BRAFV600E mutation. Manifestations include splenomegaly, elevated white blood cell (WBC) count, hyper-cellular bone marrow and anemia/thrombocytopenia, but no monocytopenia. | MONDO: Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C)."
+BMGC_DS06157,BMG_DS018790,"HPO: A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. [NCIT:C8644] | MONDO: The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)"
+BMGC_DS06158,BMG_DS018791,"MONDO: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) | MeSH: A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder."
+BMGC_DS06159,BMG_DS018794,NCI: A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site. | MONDO: A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.
+BMGC_DS06160,BMG_DS018795,NCI: Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. | MONDO: Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.
+BMGC_DS06161,BMG_DS018796,
+BMGC_DS06162,BMG_DS018797,"MONDO: The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults."
+BMGC_DS06163,BMG_DS018798,
+BMGC_DS06164,BMG_DS018799,NCI: A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features. | MONDO: A squamous cell carcinoma of the skin with a prominent spindle cell component.
+BMGC_DS06165,BMG_DS018800,NCI: A verrucous carcinoma that arises from the plantar aspect of the foot. | MONDO: A verrucous carcinoma that involves the plantar part of pes.
+BMGC_DS06166,BMG_DS018805,NCI: A malignant mesenchymal cell neoplasm that affects the urinary bladder. | MONDO: A malignant mesenchymal cell neoplasm that affects the urinary bladder.
+BMGC_DS06167,BMG_DS018806,"NCI: A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma. | MONDO: A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma."
+BMGC_DS06168,BMG_DS018807,
+BMGC_DS06169,BMG_DS018820,"MeSH: Diseases of the twelfth cranial (hypoglossal) nerve or nuclei. The nuclei and fascicles of the nerve are located in the medulla, and the nerve exits the skull via the hypoglossal foramen and innervates the muscles of the tongue. Lower brain stem diseases, including ischemia and MOTOR NEURON DISEASES may affect the nuclei or nerve fascicles. The nerve may also be injured by diseases of the posterior fossa or skull base. Clinical manifestations include unilateral weakness of tongue musculature and lingual dysarthria, with deviation of the tongue towards the side of weakness upon attempted protrusion."
+BMGC_DS06170,BMG_DS018821,
+BMGC_DS06171,BMG_DS018825,
+BMGC_DS06172,BMG_DS018839,
+BMGC_DS06173,BMG_DS018843,"MONDO: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. | MeSH: A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias."
+BMGC_DS06174,BMG_DS018844,"MONDO: An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment."
+BMGC_DS06175,BMG_DS018850,"MONDO: A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes. | MeSH: The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)."
+BMGC_DS06176,BMG_DS018854,MONDO: A primary or metastatic malignant neoplasm involving the vulva.
+BMGC_DS06177,BMG_DS018856,
+BMGC_DS06178,BMG_DS018857,"NCI: Uncommon, involuntary movements of the head and upper extremities resembling shivering and straining seen in infants and children during normal activities and without impaired consciousness or epileptiform electroencephalogram (EEG). Resolution or improvement by age 2 or 3 is often noted."
+BMGC_DS06179,BMG_DS018863,"NCI: Acute inflammation of the endocardium. Bacteria is the usual etiologic agent, and the distinction between ""acute"" and ""subacute"" has traditionally been made based on the pathogenic organism and clinical presentation."
+BMGC_DS06180,BMG_DS018864,
+BMGC_DS06181,BMG_DS018867,
+BMGC_DS06182,BMG_DS018868,
+BMGC_DS06183,BMG_DS018872,
+BMGC_DS06184,BMG_DS018879,
+BMGC_DS06185,BMG_DS018881,
+BMGC_DS06186,BMG_DS018883,
+BMGC_DS06187,BMG_DS018884,"MeSH: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, SEIZURES, and COMA. It may follow a viral illness or MYCOPLASMA PNEUMONIAE infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)"
+BMGC_DS06188,BMG_DS018885,"MONDO: Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. | MeSH: A syndrome characterized by the acute onset of unilateral FACIAL PARALYSIS which progresses over a 2-5 day period. Weakness of the orbicularis oculi muscle and resulting incomplete eye closure may be associated with corneal injury. Pain behind the ear often precedes the onset of paralysis. This condition may be associated with HERPESVIRUS 1, HUMAN infection of the facial nerve. (Adams et al., Principles of Neurology, 6th ed, p1376)"
+BMGC_DS06189,BMG_DS018886,"MONDO: Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. | MeSH: A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS."
+BMGC_DS06190,BMG_DS018888,"MeSH: A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)"
+BMGC_DS06191,BMG_DS018889,MeSH: The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
+BMGC_DS06192,BMG_DS018890,"MONDO: A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. | MeSH: A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome."
+BMGC_DS06193,BMG_DS018892,"ORPHANET: A rare soft tissue tumor characterized by a benign space occupying lesion in neonates, most typically located on the gingival mucosa overlying the anterior alveolar ridge of the maxilla near the canine, although the mandibular region may also be involved. Females are much more frequently affected than males. The tumor mostly presents as a single lesion, potentially interfering with feeding and respiration. Metastasis, malignant transformation, or recurrence after excision have not been reported. | MONDO: A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative."
+BMGC_DS06194,BMG_DS018893,"MeSH: An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy."
+BMGC_DS06195,BMG_DS018894,"NCI: A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. | MONDO: A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. | MeSH: A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))"
+BMGC_DS06196,BMG_DS018895,"MONDO: A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. | MeSH: A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses."
+BMGC_DS06197,BMG_DS018896,MONDO: A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.
+BMGC_DS06198,BMG_DS018897,"MeSH: An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE."
+BMGC_DS06199,BMG_DS018898,"MeSH: A systemic non-thrombocytopenic purpura caused by HYPERSENSITIVITY VASCULITIS and deposition of IGA-containing IMMUNE COMPLEXES within the blood vessels throughout the body, including those in the kidney (KIDNEY GLOMERULUS). Clinical symptoms include URTICARIA; ERYTHEMA; ARTHRITIS; GASTROINTESTINAL HEMORRHAGE; and renal involvement. Most cases are seen in children after acute upper respiratory infections."
+BMGC_DS06200,BMG_DS018899,"MONDO: A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo. | MeSH: A pathological condition that is characterized by a host of cranial symptoms, such as headaches, abnormal functions of the eyes and the ears, and psychological and mental disorders. This syndrome usually appears after neck injuries, inflammation, or neoplasm."
+BMGC_DS06201,BMG_DS018902,"MeSH: Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity."
+BMGC_DS06202,BMG_DS018903,"MONDO: Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574) | MeSH: Excessive growth of the gingiva either by an increase in the size of the constituent cells (GINGIVAL HYPERTROPHY) or by an increase in their number (GINGIVAL HYPERPLASIA). (From Jablonski's Dictionary of Dentistry, 1992, p574)"
+BMGC_DS06203,BMG_DS018904,"MONDO: Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. | MeSH: An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)"
+BMGC_DS06204,BMG_DS018905,"MONDO: A benign or malignant neoplasm that affects the skull base. | MeSH: Neoplasms of the base of the skull specifically, differentiated from neoplasms of unspecified sites or bones of the skull (SKULL NEOPLASMS)."
+BMGC_DS06205,BMG_DS018906,"MONDO: A childhood-onset epilepsy syndrome that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit. | MeSH: An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and DYSARTHRIA. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)"
+BMGC_DS06206,BMG_DS018908,"NCI: A neoplasm that arises from hematopoietic and lymphoid cells. Representative examples include myeloproliferative neoplasms, myelodysplastic syndromes, leukemias, Hodgkin lymphomas, and non-Hodgkin lymphomas. | MONDO: A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes."
+BMGC_DS06207,BMG_DS018912,"MeSH: A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators."
+BMGC_DS06208,BMG_DS018914,MONDO: Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics. | MeSH: Acute or chronic INFLAMMATION of the PANCREAS due to excessive ALCOHOL DRINKING. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics.
+BMGC_DS06209,BMG_DS018915,"MONDO: Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed) | MeSH: Compression of the ROTATOR CUFF tendons and subacromial bursa between the HUMERAL HEAD and the ACROMION of the SCAPULA. This condition is associated with subacromial BURSITIS, as well as rotator cuff (largely supraspinatus) and bicipital tendon INFLAMMATION. | MeSH: Compression of the ROTATOR CUFF tendons and subacromial bursa between the HUMERAL HEAD and  the ACROMION of the SCAPULA. This condition is associated with subacromial BURSITIS, as well as rotator cuff (largely supraspinatus) and bicipital tendon INFLAMMATION."
+BMGC_DS06210,BMG_DS018918,"MeSH: A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE."
+BMGC_DS06211,BMG_DS018919,"MeSH: STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus."
+BMGC_DS06212,BMG_DS018921,"ORPHANET: Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. | MONDO: Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair."
+BMGC_DS06213,BMG_DS018926,"HPO: It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. [PMID:11073535] | MONDO: Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure."
+BMGC_DS06214,BMG_DS018929,NCI: Polycythemia that is caused by excess erythropoietin. | MONDO: Polycythemia that is caused by excess erythropoietin.
+BMGC_DS06215,BMG_DS018933,"MeSH: A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)"
+BMGC_DS06216,BMG_DS018944,"NCI: Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis. | MONDO: Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis."
+BMGC_DS06217,BMG_DS018947,NCI: A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria. | MONDO: A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria.
+BMGC_DS06218,BMG_DS018953,NCI: Sarcoidosis affecting the tissues of the heart. | MONDO: Sarcoidosis affecting the tissues of the heart.
+BMGC_DS06219,BMG_DS018958,"ORPHANET: Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months."
+BMGC_DS06220,BMG_DS018964,HPO: An erosion or abrasion of the cornea's outermost layer of epithelial cells. [https://orcid.org/0009-0006-4530-3154]
+BMGC_DS06221,BMG_DS018965,"MeSH: An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION."
+BMGC_DS06222,BMG_DS018970,"NCI: Inflammation of the mouth mucosa caused by head and neck radiation therapy. Signs and symptoms include dry mouth due to lack of saliva, mucosal ulcerations and diffuse erythema of the mouth, taste alteration, and dysphagia."
+BMGC_DS06223,BMG_DS018974,"NCI: A diffuse malignant neoplasm that arises from mesothelial cells, usually in the pleura or peritoneum. Histologic variants include biphasic, epithelioid, sarcomatoid, and desmoplastic mesothelioma."
+BMGC_DS06224,BMG_DS018975,
+BMGC_DS06225,BMG_DS018976,"ORPHANET: A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed. | MONDO: Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene."
+BMGC_DS06226,BMG_DS018979,MeSH: A degenerative disease of the dermal connective tissue characterized by the development of erythematous papules or nodules in the pretibial area. The papules form plaques covered with telangiectatic vessels. More than half of the affected patients have diabetes.
+BMGC_DS06227,BMG_DS018987,
+BMGC_DS06228,BMG_DS018988,MONDO: A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
+BMGC_DS06229,BMG_DS018989,MONDO: Chronic form of periapical periodontitis.
+BMGC_DS06230,BMG_DS018990,
+BMGC_DS06231,BMG_DS018996,MONDO: An inherited metabolic disorder characterized by iron accumulation in the tissues.
+BMGC_DS06232,BMG_DS018998,MONDO: The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. | MeSH: Formation of stones in the KIDNEY.
+BMGC_DS06233,BMG_DS019001,"MONDO: Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery. | MeSH: Compressive lesion affecting the nerve roots of the CAUDA EQUINA (e.g., compression, herniation, inflammation, rupture, or stenosis), which controls the function of the bladder and bowel. Symptoms may include neurological dysfunction of bladder or bowels, loss of sexual sensation and altered sensation or paralysis in the lower extremities."
+BMGC_DS06234,BMG_DS019003,"MeSH: Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body."
+BMGC_DS06235,BMG_DS019004,
+BMGC_DS06236,BMG_DS019009,ORPHANET: Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
+BMGC_DS06237,BMG_DS019023,
+BMGC_DS06238,BMG_DS019024,
+BMGC_DS06239,BMG_DS019028,"NCI: An infection that is caused by nematodes of the genus Angiostrongylus; signs and symptoms are dependent on the invading species, but generally include gastrointestinal symptoms and fever, and can have extraintestinal manifestations (e.g., central nervous system, anterior and posterior eye). | MONDO: A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur."
+BMGC_DS06240,BMG_DS019036,"ORPHANET: Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. | MONDO: Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described."
+BMGC_DS06241,BMG_DS019037,"ORPHANET: Malignant mixed Müllerian tumor of the ovary is a rare and very aggressive neoplasm presenting most commonly in postmenopausal women and is composed of adenocarcinomatous and sarcomatous elements and, depending on the types of these elements, can be classified as homologous or heterologous. It often has a poor prognosis. | MONDO: A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements."
+BMGC_DS06242,BMG_DS019064,
+BMGC_DS06243,BMG_DS019099,"MeSH: Inflammation of the BRAIN due to infection, autoimmune processes, toxins, and other conditions. Viral infections (see ENCEPHALITIS, VIRAL) are a relatively frequent cause of this condition."
+BMGC_DS06244,BMG_DS019118,"NCI: Evidence of early-onset cerebellar ataxia. | MeSH: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked."
+BMGC_DS06245,BMG_DS019123,"NCI: Evidence of late-onset cerebellar ataxia. | MeSH: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked."
+BMGC_DS06246,BMG_DS019124,
+BMGC_DS06247,BMG_DS019135,"NCI: An autosomal recessive condition caused by mutation(s) in the SMN1 gene, encoding survival motor neuron protein. It is characterized by onset between 3 and 15 months of age, and is intermediate in terms of severity between spinal muscular atrophy (SMA) type I and SMA type III. | MONDO: Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. | MeSH: A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)"
+BMGC_DS06248,BMG_DS019136,"MeSH: A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)"
+BMGC_DS06249,BMG_DS019137,"MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS06250,BMG_DS019141,"MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS06251,BMG_DS019142,"MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS06252,BMG_DS019145,"ORPHANET: Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. | MONDO: Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss."
+BMGC_DS06253,BMG_DS019148,"MeSH: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)"
+BMGC_DS06254,BMG_DS019150,MONDO: A hereditary spastic paraplegia that is part of a larger syndrome.
+BMGC_DS06255,BMG_DS019152,"MONDO: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin."
+BMGC_DS06256,BMG_DS019153,"MeSH: An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)"
+BMGC_DS06257,BMG_DS019154,"MeSH: An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)"
+BMGC_DS06258,BMG_DS019160,"MONDO: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. | MeSH: A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)"
+BMGC_DS06259,BMG_DS019162,"MeSH: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)"
+BMGC_DS06260,BMG_DS019164,"MONDO: Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. | MONDO: Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. | MeSH: An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21."
+BMGC_DS06261,BMG_DS019170,"ORPHANET: A rare, genetic, movement disorder characterized by early-onset, very slowly progressive choreiform movements that may involve variable parts of the body, typically aggravated by stress or anxiety, in various members of a family. Additional variable manifestations include hypotonia, often resulting in psychomotor delay (including gait disturbances) and dysarthria, as well as myoclonus, dystonia, behavioral symptoms (ADHD, obsessive-compulsive disorder), learning difficulties (particularly in writing) and spasticity with hyperreflexia and/or flexor/extensor plantar reflexes. | MeSH: Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS06262,BMG_DS019174,HPO: A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06263,BMG_DS019176,
+BMGC_DS06264,BMG_DS019177,"MONDO: Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis."
+BMGC_DS06265,BMG_DS019179,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS06266,BMG_DS019182,MONDO: An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome.
+BMGC_DS06267,BMG_DS019185,NCI: Evidence of non-familial idiopathic dystonia. | MONDO: An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual.
+BMGC_DS06268,BMG_DS019196,"MeSH: A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)"
+BMGC_DS06269,BMG_DS019204,"MONDO: Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. | MeSH: A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system."
+BMGC_DS06270,BMG_DS019213,"MONDO: Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations."
+BMGC_DS06271,BMG_DS019232,"MeSH: The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)"
+BMGC_DS06272,BMG_DS019233,"MONDO: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) | MeSH: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)"
+BMGC_DS06273,BMG_DS019234,"MONDO: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. | MeSH: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)"
+BMGC_DS06274,BMG_DS019235,"MeSH: A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1125-6)"
+BMGC_DS06275,BMG_DS019239,MeSH: A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE.
+BMGC_DS06276,BMG_DS019240,"MeSH: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the TEMPORAL LOBE, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic. (From Adams et al., Principles of Neurology, 6th ed, p321)."
+BMGC_DS06277,BMG_DS019243,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS06278,BMG_DS019244,"SNOMEDCT_US: A rare genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. | MONDO: A rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. | MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS06279,BMG_DS019247,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS06280,BMG_DS019249,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS06281,BMG_DS019250,"MeSH: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the TEMPORAL LOBE, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic. (From Adams et al., Principles of Neurology, 6th ed, p321)."
+BMGC_DS06282,BMG_DS019251,MeSH: A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE.
+BMGC_DS06283,BMG_DS019252,MeSH: A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE.
+BMGC_DS06284,BMG_DS019254,MeSH: A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE.
+BMGC_DS06285,BMG_DS019257,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS06286,BMG_DS019259,"ORPHANET: A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable. | MONDO: A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable. | MeSH: A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)"
+BMGC_DS06287,BMG_DS019260,"MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS06288,BMG_DS019262,"MeSH: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)"
+BMGC_DS06289,BMG_DS019263,"MeSH: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)"
+BMGC_DS06290,BMG_DS019266,"NCI: A genetically heterogenous condition characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures. | MONDO: A rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. | MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS06291,BMG_DS019267,"ORPHANET: A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders. | MONDO: A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders. | MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS06292,BMG_DS019268,"NCI: A neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an EEG pattern of periods of low electrical brain activity interspersed with bursts of high spiky activity. | MONDO: A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity."
+BMGC_DS06293,BMG_DS019275,"ORPHANET: A rare reflex epilepsy characterized by seizures and photoparoxysmal responses triggered by flashing or flickering lights, or patterns. Exact nature of the stimulus and seizure type are variable. The disorder mainly presents in childhood and adolescence and can either occur as an isolated condition, or be associated to other epilepsy syndromes. | MONDO: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. | MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS06294,BMG_DS019279,
+BMGC_DS06295,BMG_DS019283,"MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS06296,BMG_DS019286,"MeSH: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)"
+BMGC_DS06297,BMG_DS019287,"MONDO: Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) | MeSH: Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS06298,BMG_DS019291,"MeSH: A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS06299,BMG_DS019295,"MeSH: A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS06300,BMG_DS019306,"NCI: A subtype of circadian rhythm sleep disorder in which the individual exhibits a persistent pattern of late sleep onset and late awakening, which results from an endogenous sleep-wake cycle that is delayed relative to the societal norm. | MONDO: A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle. | MeSH: Dyssomnias associated with disruption of the normal 24 hour sleep wake cycle secondary to travel (e.g., JET LAG SYNDROME), shift work, or other causes."
+BMGC_DS06301,BMG_DS019309,MeSH: A sleep disorder characterized by grinding and clenching of the teeth and forceful lateral or protrusive jaw movements. Sleep bruxism may be associated with TOOTH INJURIES; TEMPOROMANDIBULAR JOINT DISORDERS; sleep disturbances; and other conditions.
+BMGC_DS06302,BMG_DS019312,"ORPHANET: A rare otorhinolaryngologic disease characterized by total or partial anosmia at birth. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome. | MONDO: This syndrome is characterized by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome."
+BMGC_DS06303,BMG_DS019316,"MeSH: A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)"
+BMGC_DS06304,BMG_DS019317,"MeSH: A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)"
+BMGC_DS06305,BMG_DS019322,"MONDO: An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. | MeSH: A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)"
+BMGC_DS06306,BMG_DS019327,"ORPHANET: A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis."
+BMGC_DS06307,BMG_DS019328,"NCI: Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. | MONDO: Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females."
+BMGC_DS06308,BMG_DS019330,ORPHANET: A rare neurologic disease characterized by recurrent mononeuropathies usually triggered by minor physical activities innocuous to healthy people. | MONDO: Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.
+BMGC_DS06309,BMG_DS019334,"MONDO: A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse. | MeSH: A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)"
+BMGC_DS06310,BMG_DS019350,"MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS06311,BMG_DS019362,"NCI: Polyneuropathy arising in intensive care unit patients. It is a common complication of severe sepsis and is thought to represent a neurologic manifestation of systemic inflammatory response syndrome (SIRS). | MeSH: Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance."
+BMGC_DS06312,BMG_DS019399,"MeSH: Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems."
+BMGC_DS06313,BMG_DS019411,"NCI: Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. | MONDO: Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner."
+BMGC_DS06314,BMG_DS019420,"MeSH: Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions."
+BMGC_DS06315,BMG_DS019430,"MeSH: Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis."
+BMGC_DS06316,BMG_DS019457,"MeSH: Softening or loss of brain tissue following CEREBRAL INFARCTION; cerebral ischemia (see BRAIN ISCHEMIA), infection, CRANIOCEREBRAL TRAUMA, or other injury. The term is often used during gross pathologic inspection to describe blurred cortical margins and decreased consistency of brain tissue following infarction. Multicystic encephalomalacia refers to the formation of multiple cystic cavities of various sizes in the cerebral cortex of neonates and infants following injury, most notably perinatal hypoxia-ischemic events. (From Davis et al., Textbook of Neuropathology, 2nd ed, p665; J Neuropathol Exp Neurol, 1995 Mar;54(2):268-75)"
+BMGC_DS06317,BMG_DS019465,"MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS06318,BMG_DS019468,"MONDO: A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia."
+BMGC_DS06319,BMG_DS019469,"NCI: A type of cerebral palsy characterized by decreased muscle tone. | MONDO: A type of cerebral palsy characterized by decreased muscle tone. | MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS06320,BMG_DS019474,"MeSH: Prolonged unconsciousness from which the individual cannot be aroused, associated with traumatic injuries to the BRAIN. This may be defined as unconsciousness persisting for 6 hours or longer. Coma results from injury to both cerebral hemispheres or the RETICULAR FORMATION of the BRAIN STEM. Contributing mechanisms include DIFFUSE AXONAL INJURY and BRAIN EDEMA. (From J Neurotrauma 1997 Oct;14(10):699-713)"
+BMGC_DS06321,BMG_DS019477,"MONDO: A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders. | MeSH: A clinical disorder characterized by excessive fluid intake (polydipsia); HYPONATREMIA; and POLYURIA in SCHIZOPHRENIA and other psychiatric disorders. Impaired water metabolism in psychogenic polydipsia can result in WATER INTOXICATION."
+BMGC_DS06322,BMG_DS019493,MONDO: An malignant otitis externa caused by infection with Pseudomonas aeruginosa.
+BMGC_DS06323,BMG_DS019512,HPO: An abnormal narrowing of the external auditory canal. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06324,BMG_DS019515,MONDO: Chronic form of tympanitis.
+BMGC_DS06325,BMG_DS019520,"MONDO: A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color."
+BMGC_DS06326,BMG_DS019521,MONDO: A acute transudative otitis media which involves bloody effusion.
+BMGC_DS06327,BMG_DS019552,"MeSH: Idiopathic inflammation of the VESTIBULAR NERVE, characterized clinically by the acute or subacute onset of VERTIGO; NAUSEA; and imbalance. The COCHLEAR NERVE is typically spared and HEARING LOSS and TINNITUS do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)"
+BMGC_DS06328,BMG_DS019558,"MeSH: A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions."
+BMGC_DS06329,BMG_DS019607,
+BMGC_DS06330,BMG_DS019628,
+BMGC_DS06331,BMG_DS019629,
+BMGC_DS06332,BMG_DS019636,"NCI: Recurrent respiratory papillomatosis that affects the larynx. | MONDO: Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11."
+BMGC_DS06333,BMG_DS019642,
+BMGC_DS06334,BMG_DS019647,"MONDO: Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation."
+BMGC_DS06335,BMG_DS019649,"MONDO: Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema. | MeSH: Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of SUBCUTANEOUS FAT often in obese women. It is associated with HEMATOMA, pain and may progress to secondary LYMPHEDEMA which is known as lipolymphedema."
+BMGC_DS06336,BMG_DS019669,ORPHANET: Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
+BMGC_DS06337,BMG_DS019672,"MONDO: A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens."
+BMGC_DS06338,BMG_DS019689,
+BMGC_DS06339,BMG_DS019690,"ORPHANET: A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus."
+BMGC_DS06340,BMG_DS019708,
+BMGC_DS06341,BMG_DS019710,"MONDO: A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. | MeSH: A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS."
+BMGC_DS06342,BMG_DS019711,"MeSH: An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)"
+BMGC_DS06343,BMG_DS019712,
+BMGC_DS06344,BMG_DS019719,"MONDO: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene."
+BMGC_DS06345,BMG_DS019732,"MONDO: An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. | MeSH: Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms."
+BMGC_DS06346,BMG_DS019737,MONDO: Chronic form of congestive splenomegaly.
+BMGC_DS06347,BMG_DS019749,NCI: Sarcoidosis of the cerebrum. | MONDO: Sarcoidosis of the cerebrum.
+BMGC_DS06348,BMG_DS019757,"NCI: Immunodeficiency disease that arises independent of another pathologic process, disease, or injury. | MONDO: A disorder in which the immune system is unable to mount an adequate immune response."
+BMGC_DS06349,BMG_DS019760,"MONDO: The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. | MeSH: An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND."
+BMGC_DS06350,BMG_DS019761,"ORPHANET: A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations. | MONDO: Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs). | MeSH: Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash."
+BMGC_DS06351,BMG_DS019763,NCI: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases. | MONDO: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.
+BMGC_DS06352,BMG_DS019764,NCI: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection. | MONDO: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.
+BMGC_DS06353,BMG_DS019778,"HPO: Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. [https://orcid.org/0000-0002-0736-9199, PMID:2251975]"
+BMGC_DS06354,BMG_DS019799,"ORPHANET: Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections. | MONDO: Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections."
+BMGC_DS06355,BMG_DS019800,"MONDO: Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit."
+BMGC_DS06356,BMG_DS019801,
+BMGC_DS06357,BMG_DS019805,"SNOMEDCT_US: A rare disorder characterised by haemolytic anaemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. Several mutations have been identified in the gene encoding glutathione synthetase, localised to chromosome 20q11.2. Transmission is autosomal recessive."
+BMGC_DS06358,BMG_DS019806,
+BMGC_DS06359,BMG_DS019808,"ORPHANET: A rare primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected."
+BMGC_DS06360,BMG_DS019820,"ORPHANET: Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease."
+BMGC_DS06361,BMG_DS019822,
+BMGC_DS06362,BMG_DS019823,"ORPHANET: Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable. | MONDO: A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection."
+BMGC_DS06363,BMG_DS019833,
+BMGC_DS06364,BMG_DS019834,"ORPHANET: Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. | MONDO: Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."
+BMGC_DS06365,BMG_DS019835,"ORPHANET: A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by &lt;i&gt; Neisseria meningitidis&lt;/i&gt;, &lt;i&gt;Escherichia coli&lt;/i&gt;, and &lt;i&gt;Haemophilus influenzae&lt;/i&gt;), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components."
+BMGC_DS06366,BMG_DS019840,"NCI: An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity. | MONDO: An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity."
+BMGC_DS06367,BMG_DS019846,"MONDO: The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9."
+BMGC_DS06368,BMG_DS019849,"MONDO: Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. | MeSH: A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION."
+BMGC_DS06369,BMG_DS019852,"ORPHANET: Griscelli syndrome (GS) is a rare cutaneous disease characterized by a silvery-gray sheen of the hair and hypopigmentation of the skin, which can be associated to primary neurological impairment (type 1), immunologic impairment (type 2) or be isolated (type 3). | MONDO: Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3)."
+BMGC_DS06370,BMG_DS019858,
+BMGC_DS06371,BMG_DS019859,"HPO: The absence of all teeth from the normal series by a failure to develop. [https://orcid.org/0000-0002-9338-3017, PMID:31468724] | MONDO: Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth."
+BMGC_DS06372,BMG_DS019864,
+BMGC_DS06373,BMG_DS019865,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.
+BMGC_DS06374,BMG_DS019866,
+BMGC_DS06375,BMG_DS019867,
+BMGC_DS06376,BMG_DS019868,
+BMGC_DS06377,BMG_DS019870,"ORPHANET: Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). | MONDO: Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)."
+BMGC_DS06378,BMG_DS019871,"ORPHANET: Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth. | MONDO: Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth."
+BMGC_DS06379,BMG_DS019879,
+BMGC_DS06380,BMG_DS019898,"ORPHANET: Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. | MONDO: Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome."
+BMGC_DS06381,BMG_DS019931,MONDO: Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion). | MeSH: Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).
+BMGC_DS06382,BMG_DS019957,"HPO: A depression located at an oral commissure. [https://orcid.org/0009-0006-4530-3154, PMID:19125428]"
+BMGC_DS06383,BMG_DS019965,"MONDO: Inflammation of the colon that is only apparent by microscopic examination. | MeSH: A condition characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. This syndrome was first described in 1980 by Read and associates. Subtypes include COLLAGENOUS COLITIS and LYMPHOCYTIC COLITIS. Both have similar clinical symptoms and are distinguishable only by histology."
+BMGC_DS06384,BMG_DS019966,"MONDO: Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. | MeSH: A subtype of MICROSCOPIC COLITIS, characterized by chronic watery DIARRHEA of unknown origin, a normal COLONOSCOPY but abnormal histopathology on BIOPSY. Microscopic examination of biopsy samples taken from the COLON show infiltration of LYMPHOCYTES in the superficial EPITHELIUM and the underlying connective tissue (lamina propria)."
+BMGC_DS06385,BMG_DS019967,
+BMGC_DS06386,BMG_DS019972,
+BMGC_DS06387,BMG_DS019991,
+BMGC_DS06388,BMG_DS020017,"NCI: A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics."
+BMGC_DS06389,BMG_DS020020,NCI: Evidence of chronic viral hepatitis B with delta-agent.
+BMGC_DS06390,BMG_DS020022,"NCI: A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma. | MONDO: A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma."
+BMGC_DS06391,BMG_DS020054,
+BMGC_DS06392,BMG_DS020056,"NCI: A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. | MONDO: Metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD) is a type of liver disease that is not caused by alcohol. It typically does not cause symptoms in the early stages, but it can cause health problems due to fat accumulation, inflammation, and scarring in the liver. | MeSH: Fatty liver finding without excessive ALCOHOL CONSUMPTION."
+BMGC_DS06393,BMG_DS020112,"HPO: The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. [https://orcid.org/0000-0002-0736-9199] | MONDO: Chronic form of diarrheal disease."
+BMGC_DS06394,BMG_DS020150,"NCI: Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. | MONDO: Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. | MeSH: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction."
+BMGC_DS06395,BMG_DS020151,"HPO: A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. [HPO_CONTRIBUTOR:Eurenomics_ewuehl, https://orcid.org/0000-0002-2234-4248, PMID:29910038] | MONDO: Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids."
+BMGC_DS06396,BMG_DS020152,"NCI: Nephrotic syndrome characterized by two or more consecutive relapses during steroid tapering or within fourteen days of discontinuing steroids. | MeSH: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction."
+BMGC_DS06397,BMG_DS020153,"NCI: Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life. | MONDO: Congenital nephrotic syndrome, Finnish type is characterized by protein loss beginning during fetal life."
+BMGC_DS06398,BMG_DS020165,"NCI: Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. | MONDO: Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female."
+BMGC_DS06399,BMG_DS020167,"HPO: A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. [HPO_CONTRIBUTOR:Eurenomics_ewuehl] | MONDO: A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months."
+BMGC_DS06400,BMG_DS020189,
+BMGC_DS06401,BMG_DS020192,"MeSH: Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)"
+BMGC_DS06402,BMG_DS020202,
+BMGC_DS06403,BMG_DS020205,MONDO: Acute form of kidney papillary necrosis.
+BMGC_DS06404,BMG_DS020247,
+BMGC_DS06405,BMG_DS020249,"MONDO: An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. | MeSH: An autoimmune disease of the KIDNEY and the LUNG. It is characterized by the presence of circulating autoantibodies targeting the epitopes in the non-collagenous domains of COLLAGEN TYPE IV in the basement membranes of kidney glomeruli (KIDNEY GLOMERULUS) and lung alveoli (PULMONARY ALVEOLI), and the subsequent destruction of these basement membranes. Clinical features include pulmonary alveolar hemorrhage and glomerulonephritis."
+BMGC_DS06406,BMG_DS020267,"ORPHANET: A rare genetic glomerular disease characterized by variably severe nephropathy with microscopic hematuria and proteinuria, in the absence of nail and bone abnormalities. Characteristic ultrastructural findings are irregular thickening and moth-eaten appearance of the glomerular basement membrane with focal deposition of type III collagen fibrils. | MONDO: A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency."
+BMGC_DS06407,BMG_DS020269,
+BMGC_DS06408,BMG_DS020271,"NCI: A genetically heterogenous condition usually inherited in an autosomal recessive pattern. It is characterized by nephronophthisis and retinitis pigmentosa. | MONDO: Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy."
+BMGC_DS06409,BMG_DS020272,
+BMGC_DS06410,BMG_DS020273,MONDO: Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.
+BMGC_DS06411,BMG_DS020275,
+BMGC_DS06412,BMG_DS020277,"NCI: A complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness."
+BMGC_DS06413,BMG_DS020282,
+BMGC_DS06414,BMG_DS020307,MONDO: A non-neoplastic or neoplastic disorder affecting the ureter. | MeSH: Pathological processes involving the URETERS.
+BMGC_DS06415,BMG_DS020323,
+BMGC_DS06416,BMG_DS020324,
+BMGC_DS06417,BMG_DS020346,HPO: The presence of uric acid-containing calculi (stones) in the kidneys. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06418,BMG_DS020347,
+BMGC_DS06419,BMG_DS020353,
+BMGC_DS06420,BMG_DS020385,
+BMGC_DS06421,BMG_DS020386,"ORPHANET: Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present."
+BMGC_DS06422,BMG_DS020387,"ORPHANET: A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). | MONDO: Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy)."
+BMGC_DS06423,BMG_DS020388,"NCI: An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis. | MONDO: An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis."
+BMGC_DS06424,BMG_DS020395,MeSH: A condition in which the percentage of motile sperm is abnormally low.
+BMGC_DS06425,BMG_DS020396,HPO: A structural anomaly of sperm. [https://orcid.org/0000-0002-0736-9199] | MeSH: Conditions in which sperm show abnormal morphology.
+BMGC_DS06426,BMG_DS020397,"HPO: Any structural anomaly of the acrosome resulting in a round sperm head. [https://orcid.org/0000-0002-0736-9199, MP:0002686] | MONDO: Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene."
+BMGC_DS06427,BMG_DS020698,"MONDO: Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal."
+BMGC_DS06428,BMG_DS020710,"NCI: An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). | MONDO: An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency)."
+BMGC_DS06429,BMG_DS020803,
+BMGC_DS06430,BMG_DS020819,"ORPHANET: A rare, chronic, photodermatosis disease characterized by intensely pruritic, polymorphic, erythematous, excoriated and/or lichenified papules, macules, plaques and nodules, occurring on sun-exposed areas of the skin (particularly face, nose, lips, and ears), frequently associating cheilitis (especially of the lower lip) and conjuctivitis, which are present year-round or only in the spring/summer (depending on geographic location), observed mainly in Native Americans and Mestizos. Cheilitis may be the sole clinical presentation. Histologically, the presence of lymphoid follicles in mucosa is pathognomonic."
+BMGC_DS06431,BMG_DS020869,
+BMGC_DS06432,BMG_DS020878,
+BMGC_DS06433,BMG_DS020924,
+BMGC_DS06434,BMG_DS020967,"MONDO: Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails."
+BMGC_DS06435,BMG_DS020985,"MONDO: Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma. | MeSH: Benign childhood alopecia that improves spontaneously with aging. It is characterized by anagen hairs (misshapen hair bulbs and absent inner and outer root sheaths), thin, and sparse hairs that pulls out easily."
+BMGC_DS06436,BMG_DS021001,"MeSH: A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7)."
+BMGC_DS06437,BMG_DS021013,
+BMGC_DS06438,BMG_DS021034,
+BMGC_DS06439,BMG_DS021044,"MeSH: Adverse cutaneous reactions caused by ingestion, parenteral use, or local application of a drug. These may assume various morphologic patterns and produce various types of lesions."
+BMGC_DS06440,BMG_DS021059,"ORPHANET: A rare inherited epidermolysis bullosa (EB) characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. | MONDO: Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes."
+BMGC_DS06441,BMG_DS021061,
+BMGC_DS06442,BMG_DS021074,"ORPHANET: A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. | MONDO: A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities."
+BMGC_DS06443,BMG_DS021075,"MONDO: Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism."
+BMGC_DS06444,BMG_DS021076,"MONDO: A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)."
+BMGC_DS06445,BMG_DS021091,"HPO: Overgrowth of fat in the perivesical and perirectal area. [PMID:25247089] | MONDO: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males."
+BMGC_DS06446,BMG_DS021093,"MONDO: A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations."
+BMGC_DS06447,BMG_DS021114,MONDO: A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.
+BMGC_DS06448,BMG_DS021145,"ORPHANET: A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised. | MONDO: A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised."
+BMGC_DS06449,BMG_DS021156,"MONDO: A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. | MeSH: An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN."
+BMGC_DS06450,BMG_DS021157,"MONDO: EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)."
+BMGC_DS06451,BMG_DS021158,"MONDO: Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait."
+BMGC_DS06452,BMG_DS021159,"NCI: An autosomal dominant condition caused by mutation(s) in the TP63 gene, encoding tumor protein 63. It is characterized by congenital ectodermal dysplasia, ankyloblepharon filiforme adnatum, and cleft lip/palate. | MONDO: An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate."
+BMGC_DS06453,BMG_DS021161,"ORPHANET: A rare, ectodermal dysplasia syndrome characterized by hypodontia of primary or permanent dentition, and nail dysplasia manifesting as dystrophic fingernails and toenails, and thin, flat nail plates. Additional signs and symptoms may include sparse, slow-growing and fine scalp hair, thin scanty eyebrows, poor jaw development, everted lower lip, dry skin, and sweat gland involvement."
+BMGC_DS06454,BMG_DS021162,
+BMGC_DS06455,BMG_DS021164,"SNOMEDCT_US: A multiple congenital anomalies syndrome. Approximately 38 patients have been reported in literature since the first description in 1947. Patients have a short stature and a typical facies. Scalp hair may be primarily present but disappears after the first months of life leading to complete or partial alopecia. Eyebrows and/or eyelashes are sparse. Primary and permanent teeth are formed but fail to erupt. Ocular manifestations may include progressive optic atrophy, glaucoma and strabismus. Otorhinolaryngologic features include choanal atresia and deafness. Patients have a mild intellectual deficit. Some patients have also been reported with umbilical hernia, hyperextensible joints, osseous anomalies and cutaneous manifestations. Homozygous nonsense or splicing mutations in the ANTXR1 gene, encoding anthrax toxin receptor 1 cause GAPO Syndrome. | MONDO: A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations"
+BMGC_DS06456,BMG_DS021165,"ORPHANET: A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported. | MONDO: Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant."
+BMGC_DS06457,BMG_DS021166,"MONDO: Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit."
+BMGC_DS06458,BMG_DS021167,"MONDO: Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet."
+BMGC_DS06459,BMG_DS021170,"ORPHANET: A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina."
+BMGC_DS06460,BMG_DS021172,ORPHANET: Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. | MONDO: Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.
+BMGC_DS06461,BMG_DS021176,"ORPHANET: A genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. | MONDO: Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia."
+BMGC_DS06462,BMG_DS021183,"ORPHANET: Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission. | MONDO: Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission."
+BMGC_DS06463,BMG_DS021184,MONDO: An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome.
+BMGC_DS06464,BMG_DS021185,SNOMEDCT_US: A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. | MONDO: A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
+BMGC_DS06465,BMG_DS021189,"ORPHANET: A rare genetic skin disease characterized by the triad of congenital scleroatrophy predominantly of the hands with sclerodactyly, palmoplantar keratoderma, and nail changes (consisting of hypoplasia, ridging, clubbing, and white discoloration). Additional features include palmar hypohidrosis and a high susceptibility to early-onset squamous cell carcinoma of affected skin areas."
+BMGC_DS06466,BMG_DS021193,"NCI: A rare, autosomal dominant inherited disorder caused by heterozygous mutation in the DSRAD gene. Most cases have been reported from countries in East Asia. It is characterized by the presence of hyperpigmented and hypopigmented macules on the dorsal aspect of the extremities and face. | MONDO: Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs."
+BMGC_DS06467,BMG_DS021195,"ORPHANET: A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis."
+BMGC_DS06468,BMG_DS021210,"NCI: A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative. | MONDO: A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative."
+BMGC_DS06469,BMG_DS021213,"MONDO: Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. | MeSH: Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2)."
+BMGC_DS06470,BMG_DS021214,"ORPHANET: A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti. | MONDO: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present."
+BMGC_DS06471,BMG_DS021215,"ORPHANET: Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. | MONDO: Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission."
+BMGC_DS06472,BMG_DS021216,"ORPHANET: Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported. | MONDO: Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibers of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported."
+BMGC_DS06473,BMG_DS021275,HPO: Intrapelvic bulging of the medial acetabular wall. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06474,BMG_DS021401,NCI: A group of conditions used to describe polyarthritis occurring in children. | MONDO: A group of conditions used to describe polyarthritis occurring in children.
+BMGC_DS06475,BMG_DS021407,NCI: Ankylosing spondylitis occurring in children or adolescents.
+BMGC_DS06476,BMG_DS021499,"NCI: A congenital autoinflammatory disorder that presents within a few days of birth and is characterized by a clinical triad of skin rash, chronic meningitis, and joint pain with recurrent fever and inflammation. | MONDO: Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. | MeSH: A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations."
+BMGC_DS06477,BMG_DS021602,"MONDO: Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019) | MeSH: Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)"
+BMGC_DS06478,BMG_DS021614,"MONDO: An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus."
+BMGC_DS06479,BMG_DS021639,"ORPHANET: A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur. | MONDO: A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity."
+BMGC_DS06480,BMG_DS021661,"MONDO: A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)."
+BMGC_DS06481,BMG_DS021665,
+BMGC_DS06482,BMG_DS021732,"ORPHANET: A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported."
+BMGC_DS06483,BMG_DS021733,"MONDO: Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. | MeSH: Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development."
+BMGC_DS06484,BMG_DS021738,"NCI: A rare, autosomal recessive inherited disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle weakness, multiple contractures, and hypermobility in their distal joints."
+BMGC_DS06485,BMG_DS021739,"NCI: An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. | MONDO: An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage."
+BMGC_DS06486,BMG_DS021746,"MONDO: Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. | MeSH: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations."
+BMGC_DS06487,BMG_DS021747,NCI: Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. | MONDO: Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
+BMGC_DS06488,BMG_DS021749,
+BMGC_DS06489,BMG_DS021759,"MONDO: A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure."
+BMGC_DS06490,BMG_DS021760,"ORPHANET: A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement. | MONDO: Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene."
+BMGC_DS06491,BMG_DS021763,"ORPHANET: A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs, periodic paralysis, post-exertion muscle cramps, and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable, cases with normal muscle strength but myalgia or fatigue, as well as clinically asymptomatic cases have been described. | MONDO: Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported. | MeSH: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality."
+BMGC_DS06492,BMG_DS021768,
+BMGC_DS06493,BMG_DS021777,"NCI: Myotonic dystrophy that is present at birth. | MONDO: Myotonic dystrophy that is present at birth. | MeSH: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2."
+BMGC_DS06494,BMG_DS021879,"NCI: An autoinflammatory disease characterized by sterile bone lesions which are multifocal and/or recurrent. | MONDO: Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine."
+BMGC_DS06495,BMG_DS021943,HPO: A general term describing features characterized by abnormal development of bones and connective tissues. [https://orcid.org/0000-0002-0736-9199] | MONDO: Any Mendelian diseases that affects growth and development of the skeleton.
+BMGC_DS06496,BMG_DS021944,"NCI: An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia. | MONDO: Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints."
+BMGC_DS06497,BMG_DS021945,ORPHANET: Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. | MONDO: Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
+BMGC_DS06498,BMG_DS021949,"NCI: A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips. | MONDO: Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis."
+BMGC_DS06499,BMG_DS021950,"NCI: An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood. | MONDO: Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity."
+BMGC_DS06500,BMG_DS021974,"HPO: Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically. [PMID:27412524, PMID:30618151] | MeSH: Inflammation of the SYNOVIAL MEMBRANE."
+BMGC_DS06501,BMG_DS021994,NCI: Any degenerative disorder affecting one or more vertebral discs of the cervical spine. | MONDO: Any degenerative disorder affecting one or more vertebral disks of the cervical spine.
+BMGC_DS06502,BMG_DS022238,"HPO: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. [HPO_CONTRIBUTOR:jalbers, PMID:28276060] | MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS06503,BMG_DS022244,"MeSH: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications."
+BMGC_DS06504,BMG_DS022254,"MeSH: Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS."
+BMGC_DS06505,BMG_DS022255,"HPO: Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS06506,BMG_DS022261,HPO: An eye that is more deeply recessed into the plane of the face than is typical. [PMID:19125427] | MONDO: Abnormal recession of the eyeball within the eye socket.
+BMGC_DS06507,BMG_DS022264,HPO: Heterochromia iridis is a difference in the color of the iris in the two eyes. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06508,BMG_DS022271,HPO: The presence of an increased number of twists and turns of the retinal artery. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06509,BMG_DS022274,"MeSH: Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions."
+BMGC_DS06510,BMG_DS022280,MeSH: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
+BMGC_DS06511,BMG_DS022281,MeSH: Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve.
+BMGC_DS06512,BMG_DS022284,
+BMGC_DS06513,BMG_DS022307,NCI: A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. | MONDO: A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. | MeSH: Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
+BMGC_DS06514,BMG_DS022309,NCI: A reduction in the strength of the facial muscles. | MeSH: Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.
+BMGC_DS06515,BMG_DS022321,HPO: Deposition of calcium salts in the aortic valve. [https://orcid.org/0000-0002-0736-9199] | MONDO: Calcification of the aortic valve
+BMGC_DS06516,BMG_DS022328,HPO: An abnormal widening of the diameter of the pulmonary artery. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06517,BMG_DS022329,"NCI: A derangement in the normal functioning of the sinoatrial node. Typically, SA node dysfunction is manifest as sinoatrial exit block or sinus arrest, but may present as an absolute or relative bradycardia in the presence of a stressor. It may be associated with bradycardia-tachycardia syndrome | MONDO: A disease involving the sinoatrial node."
+BMGC_DS06518,BMG_DS022331,"HPO: A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS06519,BMG_DS022348,"NCI: A central nervous system tumor with morphological features of anaplastic oligoastrocytoma in which there is insufficient information on the IDH genes status. | MONDO: An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity."
+BMGC_DS06520,BMG_DS022349,"HPO: Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. [https://orcid.org/0000-0002-0736-9199, PMID:11135453] | MONDO: A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)"
+BMGC_DS06521,BMG_DS022352,NCI: A meningioma that affects the choroid plexus. | MONDO: A meningioma that affects the choroid plexus.
+BMGC_DS06522,BMG_DS022353,NCI: A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells. | MONDO: A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells.
+BMGC_DS06523,BMG_DS022354,NCI: A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells. | MONDO: A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.
+BMGC_DS06524,BMG_DS022355,"NCI: A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies. | MONDO: A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies."
+BMGC_DS06525,BMG_DS022356,"NCI: A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO) | MONDO: A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)"
+BMGC_DS06526,BMG_DS022357,"NCI: A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO) | MONDO: A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO)"
+BMGC_DS06527,BMG_DS022367,"NCI: A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary."
+BMGC_DS06528,BMG_DS022371,"HPO: A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. [HPO_CONTRIBUTOR:GC_HPE] | MONDO: Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally."
+BMGC_DS06529,BMG_DS022372,HPO: A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. [HPO_CONTRIBUTOR:GC_HPE] | MONDO: Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.
+BMGC_DS06530,BMG_DS022375,"NCI: A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation. | MeSH: Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)"
+BMGC_DS06531,BMG_DS022377,HPO: The presence of developmental dysplasia of the cerebral cortex. [https://orcid.org/0000-0002-0736-9199] | MONDO: Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.
+BMGC_DS06532,BMG_DS022379,HPO: Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. [PMID:4058748] | MONDO: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.
+BMGC_DS06533,BMG_DS022380,"MONDO: Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy. | MeSH: Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation."
+BMGC_DS06534,BMG_DS022381,"MONDO: Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."
+BMGC_DS06535,BMG_DS022383,"SNOMEDCT_US: A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed. | MONDO: Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability."
+BMGC_DS06536,BMG_DS022384,"MONDO: Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood)."
+BMGC_DS06537,BMG_DS022386,"HPO: Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. [https://orcid.org/0000-0002-0003-6754, PMID:32706613, PMID:33168212] | MONDO: Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization."
+BMGC_DS06538,BMG_DS022395,"NCI: A rare syndrome of unknown cause that occurs in females. It is characterized by underdeveloped or absent vagina and uterus in an otherwise phenotypically normal female with a normal 46,XX karyotype. Other abnormalities include unilateral renal agenesis, skeletal abnormalities, hearing loss, and heart defects. | MONDO: Spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)."
+BMGC_DS06539,BMG_DS022397,"HPO: Two sided hypoplasia of the kidney. [HPO_CONTRIBUTOR:Eurenomics_fschaefer] | MONDO: Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present."
+BMGC_DS06540,BMG_DS022398,"NCI: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes. | MONDO: Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome."
+BMGC_DS06541,BMG_DS022400,"HPO: A unilateral form of developmental dysplasia of the kidney. [https://orcid.org/0000-0002-0736-9199] | MONDO: Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD."
+BMGC_DS06542,BMG_DS022401,"NCI: A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. | MONDO: Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD."
+BMGC_DS06543,BMG_DS022407,HPO: The presence of many cysts in the kidney. [HPO_CONTRIBUTOR:Eurenomics_ewuehl]
+BMGC_DS06544,BMG_DS022418,"HPO: In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. [https://orcid.org/0000-0002-6670-9157, PMID:16235349, PMID:19125433]"
+BMGC_DS06545,BMG_DS022420,"HPO: Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). [https://orcid.org/0009-0006-4530-3154]"
+BMGC_DS06546,BMG_DS022424,HPO: A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. [https://orcid.org/0009-0006-4530-3154]
+BMGC_DS06547,BMG_DS022429,
+BMGC_DS06548,BMG_DS022430,"HPO: Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. [https://orcid.org/0000-0002-0736-9199] | MONDO: Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate."
+BMGC_DS06549,BMG_DS022434,MONDO: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.
+BMGC_DS06550,BMG_DS022435,"MONDO: Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation."
+BMGC_DS06551,BMG_DS022436,HPO: Agenesis of one or more vertebrae of the cervical vertebral column. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06552,BMG_DS022443,ORPHANET: Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. | MONDO: Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
+BMGC_DS06553,BMG_DS022444,
+BMGC_DS06554,BMG_DS022445,"ORPHANET: A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or in the perinatal period."
+BMGC_DS06555,BMG_DS022446,"ORPHANET: A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others. | MONDO: Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal."
+BMGC_DS06556,BMG_DS022447,"ORPHANET: Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. | MONDO: Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing."
+BMGC_DS06557,BMG_DS022448,"ORPHANET: Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy. | MONDO: Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy."
+BMGC_DS06558,BMG_DS022450,
+BMGC_DS06559,BMG_DS022451,"MONDO: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis."
+BMGC_DS06560,BMG_DS022452,"SNOMEDCT_US: Syndrome with characteristics of disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three siblings from a Mexican mestizo family. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. | MONDO: A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment."
+BMGC_DS06561,BMG_DS022453,"NCI: An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by osteoarthritis and mild chondrodysplasia. | MONDO: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk."
+BMGC_DS06562,BMG_DS022454,ORPHANET: Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. | MONDO: Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.
+BMGC_DS06563,BMG_DS022455,"MONDO: Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure."
+BMGC_DS06564,BMG_DS022457,ORPHANET: Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. | MONDO: Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.
+BMGC_DS06565,BMG_DS022458,"ORPHANET: Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). | MONDO: A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)."
+BMGC_DS06566,BMG_DS022459,"ORPHANET: Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis."
+BMGC_DS06567,BMG_DS022460,"ORPHANET: A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts."
+BMGC_DS06568,BMG_DS022461,"ORPHANET: A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated."
+BMGC_DS06569,BMG_DS022462,"ORPHANET: A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. | MONDO: Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed."
+BMGC_DS06570,BMG_DS022463,"SNOMEDCT_US: A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance. | MONDO: Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood."
+BMGC_DS06571,BMG_DS022464,"ORPHANET: Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. | MONDO: Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones."
+BMGC_DS06572,BMG_DS022466,"NCI: An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs. | MONDO: Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs."
+BMGC_DS06573,BMG_DS022467,"ORPHANET: A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features."
+BMGC_DS06574,BMG_DS022468,"NCI: A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation. | MONDO: An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature."
+BMGC_DS06575,BMG_DS022469,MONDO: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.
+BMGC_DS06576,BMG_DS022470,
+BMGC_DS06577,BMG_DS022471,"ORPHANET: A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide iliac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age. | MONDO: Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome."
+BMGC_DS06578,BMG_DS022472,"MONDO: Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies."
+BMGC_DS06579,BMG_DS022473,"MONDO: A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment."
+BMGC_DS06580,BMG_DS022475,"ORPHANET: A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. | MONDO: A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease."
+BMGC_DS06581,BMG_DS022476,MONDO: Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.
+BMGC_DS06582,BMG_DS022477,ORPHANET: Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. | MONDO: Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.
+BMGC_DS06583,BMG_DS022478,"ORPHANET: Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). | MONDO: Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male)."
+BMGC_DS06584,BMG_DS022479,"ORPHANET: Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. | MONDO: Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit."
+BMGC_DS06585,BMG_DS022483,"ORPHANET: A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described."
+BMGC_DS06586,BMG_DS022484,MONDO: Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.
+BMGC_DS06587,BMG_DS022486,"SNOMEDCT_US: A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts. | MONDO: Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content."
+BMGC_DS06588,BMG_DS022487,"MeSH: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene."
+BMGC_DS06589,BMG_DS022488,"ORPHANET: Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. | MONDO: Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss."
+BMGC_DS06590,BMG_DS022489,"MONDO: Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis."
+BMGC_DS06591,BMG_DS022491,"NCI: An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis. | MONDO: Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies."
+BMGC_DS06592,BMG_DS022492,"ORPHANET: A rare sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. | MONDO: A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture."
+BMGC_DS06593,BMG_DS022495,"ORPHANET: A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint. | MONDO: Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known."
+BMGC_DS06594,BMG_DS022496,"MONDO: Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth."
+BMGC_DS06595,BMG_DS022497,"ORPHANET: A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts. | MONDO: A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma."
+BMGC_DS06596,BMG_DS022499,"ORPHANET: Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive. | MONDO: Dermochondrocorneal dystrophy is characterized by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive."
+BMGC_DS06597,BMG_DS022500,"NCI: An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis."
+BMGC_DS06598,BMG_DS022501,"ORPHANET: Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. | MONDO: Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy."
+BMGC_DS06599,BMG_DS022502,"ORPHANET: A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant."
+BMGC_DS06600,BMG_DS022504,"MONDO: Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern."
+BMGC_DS06601,BMG_DS022506,
+BMGC_DS06602,BMG_DS022507,"MONDO: Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. | MeSH: An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A."
+BMGC_DS06603,BMG_DS022509,
+BMGC_DS06604,BMG_DS022512,"ORPHANET: A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk. | MONDO: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation."
+BMGC_DS06605,BMG_DS022513,"ORPHANET: A rare, inherited, epidermolysis bullosa simplex characterized by primarily acral blistering with onset typically at birth. Patients have easy bruisability, hemorrhagic blistering, and onychogryphosis. | MONDO: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering."
+BMGC_DS06606,BMG_DS022515,"HPO: A type of blistering that affects the skin of the tibial region. [https://orcid.org/0000-0002-0736-9199, PMID:15265795] | MONDO: Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region."
+BMGC_DS06607,BMG_DS022516,"MONDO: Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails."
+BMGC_DS06608,BMG_DS022518,"ORPHANET: A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. | MONDO: Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement."
+BMGC_DS06609,BMG_DS022522,"ORPHANET: A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991."
+BMGC_DS06610,BMG_DS022523,
+BMGC_DS06611,BMG_DS022528,"ORPHANET: Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. | MONDO: Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia."
+BMGC_DS06612,BMG_DS022530,NCI: Absence of one or both mammary glands.
+BMGC_DS06613,BMG_DS022531,"SNOMEDCT_US: Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out. | MONDO: Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy."
+BMGC_DS06614,BMG_DS022551,"MeSH: A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)"
+BMGC_DS06615,BMG_DS022552,"MeSH: A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)"
+BMGC_DS06616,BMG_DS022568,MONDO: Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.
+BMGC_DS06617,BMG_DS022569,"MONDO: A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts."
+BMGC_DS06618,BMG_DS022593,"ORPHANET: A group of rare immunodeficiency-associated lymphoproliferative disorders characterized by lymphoid or plasmacytic proliferations developing in the context of immunosuppression in a recipient of a solid organ or stem cell allograft. The group includes non-destructive post-transplant lymphoproliferative disorders (PTLDs), polymorphic PTLD, monomorphic PTLDs, and classic Hodgkin lymphoma PTLD. Patients may have more than one type of PTLD in a single or in different locations. The most commonly involved sites are lymph nodes, gastrointestinal tract, lungs, and liver, although the disease may occur almost anywhere in the body. In solid organ transplant recipients, PTLD may also involve the allograft. | MONDO: Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)"
+BMGC_DS06619,BMG_DS022594,MONDO: A malignant neoplasm involving the lower lip.
+BMGC_DS06620,BMG_DS022596,"NCI: A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize. | MONDO: A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize."
+BMGC_DS06621,BMG_DS022597,"NCI: A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. | MONDO: A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity."
+BMGC_DS06622,BMG_DS022598,"NCI: Evidence of a malignant neoplasm of the upper lip, inner aspect."
+BMGC_DS06623,BMG_DS022599,NCI: Evidence of a malignant neoplasm of the lower gum. | MONDO: A cancer involving a gingiva of lower jaw.
+BMGC_DS06624,BMG_DS022629,NCI: Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena. | MONDO: Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena.
+BMGC_DS06625,BMG_DS022631,"MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS06626,BMG_DS022646,NCI: The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence.
+BMGC_DS06627,BMG_DS022651,
+BMGC_DS06628,BMG_DS022658,"MONDO: Stone(s) within the urinary tract. | MeSH: Formation of stones in any part of the URINARY TRACT, usually in the KIDNEY; URINARY BLADDER; or the URETER."
+BMGC_DS06629,BMG_DS022664,
+BMGC_DS06630,BMG_DS022674,"NCI: A stroke syndrome caused by infarction of the cerebral territories supplied by the posterior cerebral artery (PCA). Signs and symptoms may include visual field deficits, agnosia, aphasia and memory deficits. | MeSH: NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)."
+BMGC_DS06631,BMG_DS022686,
+BMGC_DS06632,BMG_DS022704,
+BMGC_DS06633,BMG_DS022818,HPO: A bilateral type of conductive hearing impairment. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06634,BMG_DS022820,HPO: A bilateral form of sensorineural hearing impairment. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06635,BMG_DS022856,
+BMGC_DS06636,BMG_DS022882,"MeSH: Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS06637,BMG_DS022901,"HPO: A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS06638,BMG_DS022905,MeSH: Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
+BMGC_DS06639,BMG_DS022906,MeSH: Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
+BMGC_DS06640,BMG_DS022907,MeSH: Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
+BMGC_DS06641,BMG_DS022908,MeSH: Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
+BMGC_DS06642,BMG_DS022918,"NCI: Fluid accumulation in multiple fetal anatomic cavities that is of non-immune origin. | MONDO: Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. | MeSH: Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS."
+BMGC_DS06643,BMG_DS022919,"NCI: Fluid accumulation in multiple fetal anatomic cavities attributable to a maternal immune response against fetal blood cell antigens. | MONDO: Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility. | MeSH: Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS."
+BMGC_DS06644,BMG_DS022974,NCI: An infectious disorder of newborn infants that is characterized by a systemic inflammatory response most commonly caused by bacteria. | MONDO: Bacterial infection in the bloodstream of newborn infants younger than 28 days old.
+BMGC_DS06645,BMG_DS022977,
+BMGC_DS06646,BMG_DS022991,
+BMGC_DS06647,BMG_DS022996,"MONDO: A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent. | MONDO: OBSOLETE. A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia). | MeSH: A benign form of endometrial hyperplasia with increased number of endometrial glands and thickened endometrium. Simple hyperplasia has little risk of progression to endometrial carcinoma. | MeSH: Benign proliferation of the ENDOMETRIUM in the UTERUS. Endometrial hyperplasia is classified by its cytology and glandular tissue. There are simple, complex (adenomatous without atypia), and atypical hyperplasia representing also the ascending risk of becoming malignant."
+BMGC_DS06648,BMG_DS022997,"NCI: A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002 | MONDO: A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002"
+BMGC_DS06649,BMG_DS023001,"MeSH: Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME)."
+BMGC_DS06650,BMG_DS023015,
+BMGC_DS06651,BMG_DS023017,"NCI: A mature T-cell and NK-cell non-Hodgkin lymphoma of intraepithelial T-lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is characterized by the presence of pleomorphic medium-sized to large T-lymphocytes with vesicular nuclei, prominent nucleoli, and moderate to abundant pale cytoplasm. It is associated with celiac disease. | MONDO: An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease."
+BMGC_DS06652,BMG_DS023018,"ORPHANET: Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life. | MONDO: Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life."
+BMGC_DS06653,BMG_DS023019,MONDO: The lack of vision. It is caused by neurological or physiological factors. | MeSH: The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
+BMGC_DS06654,BMG_DS023027,"ORPHANET: A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner. | MONDO: Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner."
+BMGC_DS06655,BMG_DS023030,"MONDO: A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported."
+BMGC_DS06656,BMG_DS023060,"MONDO: Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. | MeSH: Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)"
+BMGC_DS06657,BMG_DS023108,
+BMGC_DS06658,BMG_DS023109,
+BMGC_DS06659,BMG_DS023112,"MeSH: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)"
+BMGC_DS06660,BMG_DS023127,
+BMGC_DS06661,BMG_DS023138,
+BMGC_DS06662,BMG_DS023171,NCI: A condition in which a person has reduced protein production from two of the four alpha-globin alleles.
+BMGC_DS06663,BMG_DS023175,ORPHANET: Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion. | MONDO: Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
+BMGC_DS06664,BMG_DS023181,ORPHANET: Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms). | MONDO: Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.
+BMGC_DS06665,BMG_DS023193,"ORPHANET: Nonspherocytic haemolytic anaemia due to hexokinase deficiency is characterised by severe hemolysis, appearing in infancy. Seventeen affected families have been reported so far. Transmission is autosomal recessive. Mutations have been described in &lt;i&gt;HK1&lt;/i&gt;, the gene that encodes red blood cell-specific hexokinase-R."
+BMGC_DS06666,BMG_DS023202,
+BMGC_DS06667,BMG_DS023209,
+BMGC_DS06668,BMG_DS023212,"NCI: An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis."
+BMGC_DS06669,BMG_DS023236,
+BMGC_DS06670,BMG_DS023298,MeSH: Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.
+BMGC_DS06671,BMG_DS023307,"MONDO: An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. | MONDO: Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening."
+BMGC_DS06672,BMG_DS023322,"NCI: A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days. | MONDO: A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days."
+BMGC_DS06673,BMG_DS023328,"NCI: A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb. | MONDO: A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb."
+BMGC_DS06674,BMG_DS023330,
+BMGC_DS06675,BMG_DS023406,
+BMGC_DS06676,BMG_DS023411,MeSH: Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina.
+BMGC_DS06677,BMG_DS023418,
+BMGC_DS06678,BMG_DS023421,"NCI: A benign, borderline, or malignant epithelial tumor characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. | MONDO: A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells."
+BMGC_DS06679,BMG_DS023427,NCI: A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin. | MONDO: A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.
+BMGC_DS06680,BMG_DS023429,NCI: Evidence of a malignant neoplasm of the external upper lip.
+BMGC_DS06681,BMG_DS023430,
+BMGC_DS06682,BMG_DS023433,
+BMGC_DS06683,BMG_DS023495,
+BMGC_DS06684,BMG_DS023496,
+BMGC_DS06685,BMG_DS023498,"HPO: A carcinoma of the endometrium, the mucous lining of the uterus. [https://orcid.org/0000-0002-0736-9199, NCIT:C7558] | MONDO: A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation."
+BMGC_DS06686,BMG_DS023499,"NCI: A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma. | MONDO: A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma."
+BMGC_DS06687,BMG_DS023501,NCI: A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. | MONDO: A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern.
+BMGC_DS06688,BMG_DS023503,"NCI: A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath. | MONDO: A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath."
+BMGC_DS06689,BMG_DS023504,"MONDO: A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension. | MeSH: A cognitive disorder characterized by an impaired ability to comprehend written and printed words or phrases despite intact vision. This condition may be developmental or acquired. Developmental dyslexia is marked by reading achievement that falls substantially below that expected given the individual's chronological age, measured intelligence, and age-appropriate education. The disturbance in reading significantly interferes with academic achievement or with activities of daily living that require reading skills. (From DSM-IV)"
+BMGC_DS06690,BMG_DS023505,"NCI: Episodic apnea, which is more common in young children and usually resolves by age six."
+BMGC_DS06691,BMG_DS023521,NCI: Evidence of other specified coagulation defects not specified elsewhere.
+BMGC_DS06692,BMG_DS023522,NCI: Evidence of other primary thrombocytopenia not specified elsewhere.
+BMGC_DS06693,BMG_DS023523,
+BMGC_DS06694,BMG_DS023528,
+BMGC_DS06695,BMG_DS023545,
+BMGC_DS06696,BMG_DS023549,NCI: Evidence of other dystonia not specified elsewhere.
+BMGC_DS06697,BMG_DS023550,NCI: Evidence of other specified extrapyramidal and movement disorders not specified elsewhere.
+BMGC_DS06698,BMG_DS023552,NCI: Evidence of other specified degenerative diseases of nervous system not specified elsewhere.
+BMGC_DS06699,BMG_DS023558,
+BMGC_DS06700,BMG_DS023566,
+BMGC_DS06701,BMG_DS023591,"NCI: Evidence of post-traumatic hydrocephalus. | MeSH: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA."
+BMGC_DS06702,BMG_DS023656,
+BMGC_DS06703,BMG_DS023744,
+BMGC_DS06704,BMG_DS023761,
+BMGC_DS06705,BMG_DS023815,
+BMGC_DS06706,BMG_DS023817,
+BMGC_DS06707,BMG_DS023831,
+BMGC_DS06708,BMG_DS023834,
+BMGC_DS06709,BMG_DS023844,"MONDO: A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly."
+BMGC_DS06710,BMG_DS023889,NCI: A malignant neoplasm that affects the renal parenchyma but not the pelvis.
+BMGC_DS06711,BMG_DS023892,
+BMGC_DS06712,BMG_DS023899,
+BMGC_DS06713,BMG_DS023910,
+BMGC_DS06714,BMG_DS023913,
+BMGC_DS06715,BMG_DS023919,
+BMGC_DS06716,BMG_DS023921,
+BMGC_DS06717,BMG_DS023923,
+BMGC_DS06718,BMG_DS023929,
+BMGC_DS06719,BMG_DS023930,
+BMGC_DS06720,BMG_DS023931,
+BMGC_DS06721,BMG_DS023932,
+BMGC_DS06722,BMG_DS023934,
+BMGC_DS06723,BMG_DS023939,
+BMGC_DS06724,BMG_DS023950,
+BMGC_DS06725,BMG_DS023954,"NCI: Evidence of Alzheimer's disease with late onset. | MeSH: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)"
+BMGC_DS06726,BMG_DS023955,
+BMGC_DS06727,BMG_DS023965,"MONDO: Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions. | MeSH: Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ISCHEMIA; traumatic injury; compression; CONNECTIVE TISSUE DISEASES; CUMULATIVE TRAUMA DISORDERS; and other conditions."
+BMGC_DS06728,BMG_DS023971,
+BMGC_DS06729,BMG_DS023987,"NCI: A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. | MONDO: A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems."
+BMGC_DS06730,BMG_DS023988,
+BMGC_DS06731,BMG_DS023995,
+BMGC_DS06732,BMG_DS024047,
+BMGC_DS06733,BMG_DS024076,
+BMGC_DS06734,BMG_DS024078,
+BMGC_DS06735,BMG_DS024085,
+BMGC_DS06736,BMG_DS024086,
+BMGC_DS06737,BMG_DS024090,
+BMGC_DS06738,BMG_DS024108,
+BMGC_DS06739,BMG_DS024109,
+BMGC_DS06740,BMG_DS024140,
+BMGC_DS06741,BMG_DS024172,
+BMGC_DS06742,BMG_DS024179,
+BMGC_DS06743,BMG_DS024180,
+BMGC_DS06744,BMG_DS024181,
+BMGC_DS06745,BMG_DS024184,NCI: Evidence of a malignant neoplasm of the border of tongue.
+BMGC_DS06746,BMG_DS024185,NCI: Evidence of a malignant neoplasm of the lateral floor of mouth.
+BMGC_DS06747,BMG_DS024187,NCI: Evidence of a malignant neoplasm of the anterior surface of epiglottis.
+BMGC_DS06748,BMG_DS024188,NCI: A primary or metastatic malignant neoplasm that affects the postcricoid region. | MONDO: A primary or metastatic malignant neoplasm that affects the postcricoid region.
+BMGC_DS06749,BMG_DS024189,NCI: Evidence of a malignant neoplasm of the posterior wall of hypopharynx.
+BMGC_DS06750,BMG_DS024191,NCI: A primary or metastatic malignant neoplasm involving the abdominal region of the esophagus. | MONDO: A cancer that involves the abdominal part of esophagus.
+BMGC_DS06751,BMG_DS024192,NCI: A primary or metastatic malignant neoplasm that affects the appendix. Representative examples include carcinoma and lymphoma. | MONDO: A malignant neoplasm involving the vermiform appendix
+BMGC_DS06752,BMG_DS024193,NCI: Evidence of a malignant neoplasm of the endocrine pancreas.
+BMGC_DS06753,BMG_DS024195,NCI: A malignant neoplasm that affects the labia majora. | MONDO: A malignant neoplasm involving the labium majora.
+BMGC_DS06754,BMG_DS024196,NCI: A malignant neoplasm that affects the labia minora. | MONDO: A malignant neoplasm that affects the labia minora.
+BMGC_DS06755,BMG_DS024197,NCI: Evidence of a malignant neoplasm of the trigone of bladder. | MONDO: A malignant neoplasm involving the trigone of urinary bladder.
+BMGC_DS06756,BMG_DS024198,"NCI: Evidence of a malignant neoplasm of the dome of bladder. | MONDO: Cancer of the upper, convex surface of the bladder."
+BMGC_DS06757,BMG_DS024199,NCI: Evidence of a malignant neoplasm of the lateral wall of bladder.
+BMGC_DS06758,BMG_DS024200,NCI: A malignant neoplasm that affects the ciliary body. Representative examples include melanoma and malignant medulloepithelioma. | MONDO: A malignant neoplasm involving the ciliary body.
+BMGC_DS06759,BMG_DS024202,NCI: A primary or metastatic malignant neoplasm affecting the olfactory nerve.
+BMGC_DS06760,BMG_DS024203,"NCI: A primary or metastatic malignant neoplasm affecting the pituitary gland. | MONDO: A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract."
+BMGC_DS06761,BMG_DS024204,
+BMGC_DS06762,BMG_DS024216,"MeSH: Disease of LYMPH NODES which are abnormal in size, number or consistency."
+BMGC_DS06763,BMG_DS024218,"MONDO: A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma."
+BMGC_DS06764,BMG_DS024220,"MONDO: Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. | MeSH: An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness."
+BMGC_DS06765,BMG_DS024224,MONDO: An abnormality of the nervous system that is present at birth or detected in the neonatal period.
+BMGC_DS06766,BMG_DS024229,MONDO: An pneumonia caused by infection with Klebsiella.
+BMGC_DS06767,BMG_DS024231,NCI: An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas. | MONDO: An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.
+BMGC_DS06768,BMG_DS024234,HPO: Lung parenchymal involvement with lymphoma. [HPO_CONTRIBUTOR:DDD_tkuijpers]
+BMGC_DS06769,BMG_DS024238,"MONDO: Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death. | MeSH: ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT."
+BMGC_DS06770,BMG_DS024241,"MONDO: Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V)"
+BMGC_DS06771,BMG_DS024261,
+BMGC_DS06772,BMG_DS024264,NCI: Sudden onset pyelonephritis. | MONDO: Sudden onset pyelonephritis.
+BMGC_DS06773,BMG_DS024266,
+BMGC_DS06774,BMG_DS024274,"MONDO: Cessation of air flow during sleep due to upper airway obstruction. | MeSH: A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)"
+BMGC_DS06775,BMG_DS024275,"MeSH: A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration."
+BMGC_DS06776,BMG_DS024283,
+BMGC_DS06777,BMG_DS024286,
+BMGC_DS06778,BMG_DS024288,"MeSH: Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL)."
+BMGC_DS06779,BMG_DS024293,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06780,BMG_DS024298,NCI: An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. | MONDO: An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.
+BMGC_DS06781,BMG_DS024307,
+BMGC_DS06782,BMG_DS024313,
+BMGC_DS06783,BMG_DS024314,
+BMGC_DS06784,BMG_DS024361,MONDO: Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury. | MeSH: Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
+BMGC_DS06785,BMG_DS024365,NCI: A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. | MONDO: A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.
+BMGC_DS06786,BMG_DS024377,"MeSH: Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency."
+BMGC_DS06787,BMG_DS024379,"MONDO: Cholecystitis resulting from infection by gas producing organisms. | MeSH: A variant of acute cholecystitis with inflammation of the GALLBLADDER that is characterized by the pockets of gas in the gallbladder wall. It is due to secondary infection caused by gas-forming organisms, and has a high risk of perforation."
+BMGC_DS06788,BMG_DS024393,
+BMGC_DS06789,BMG_DS024397,"MeSH: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS06790,BMG_DS024398,"MeSH: A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS06791,BMG_DS024401,"HPO: Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days. [] | MeSH: Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes."
+BMGC_DS06792,BMG_DS024422,"HPO: Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. [https://orcid.org/0000-0003-0986-4123]"
+BMGC_DS06793,BMG_DS024429,"NCI: Partial or complete opacity of the crystalline lens of both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)"
+BMGC_DS06794,BMG_DS024440,"ORPHANET: A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner."
+BMGC_DS06795,BMG_DS024448,
+BMGC_DS06796,BMG_DS024460,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06797,BMG_DS024461,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06798,BMG_DS024462,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06799,BMG_DS024463,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06800,BMG_DS024464,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06801,BMG_DS024465,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06802,BMG_DS024466,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06803,BMG_DS024467,"MeSH: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)"
+BMGC_DS06804,BMG_DS024482,"HPO: Absence of transferrin, a protein that transports iron, in the blood. [https://orcid.org/0000-0002-0736-9199] | MONDO: Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated."
+BMGC_DS06805,BMG_DS024514,NCI: Headache triggered by exercise. | MeSH: Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes.
+BMGC_DS06806,BMG_DS024522,ORPHANET: A rare cytotoxic cutaneous alpha-beta T-cell lymphoma characterized by solitary or multiple erythematous subcutaneous nodules and plaques that can be localized to the lower extremities or generalized. It has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue and often associated with hemophagocytic lymphohistiocytosis. | MONDO: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue.
+BMGC_DS06807,BMG_DS024523,
+BMGC_DS06808,BMG_DS024524,"NCI: An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) | MONDO: An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)"
+BMGC_DS06809,BMG_DS024526,"HPO: A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. [https://orcid.org/0000-0002-0736-9199, PMID:17539799] | MONDO: Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene. | MeSH: Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)"
+BMGC_DS06810,BMG_DS024527,NCI: A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. | MONDO: A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.
+BMGC_DS06811,BMG_DS024529,MONDO: A prenatal onset growth disorder with multiorgan manifestations. | MeSH: Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.
+BMGC_DS06812,BMG_DS024530,"MeSH: INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS."
+BMGC_DS06813,BMG_DS024531,"MeSH: INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors."
+BMGC_DS06814,BMG_DS024532,"NCI: A combination of medical conditions that when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, dyslipidemia, impaired glucose tolerance, and insulin resistance. | MeSH: A cluster of symptoms that are risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome include ABDOMINAL OBESITY; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state."
+BMGC_DS06815,BMG_DS024533,MeSH: Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS.
+BMGC_DS06816,BMG_DS024534,MeSH: Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS.
+BMGC_DS06817,BMG_DS024535,HPO: Addiction to opioids. [] | MONDO: Disorders related or resulting from abuse or mis-use of opioids.
+BMGC_DS06818,BMG_DS024536,"MeSH: Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis)."
+BMGC_DS06819,BMG_DS024537,"MeSH: Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS."
+BMGC_DS06820,BMG_DS024538,"MeSH: An acute infectious disease caused by YERSINIA PESTIS that affects humans, wild rodents, and their ectoparasites. This condition persists due to its firm entrenchment in sylvatic rodent-flea ecosystems throughout the world. Bubonic plague is the most common form."
+BMGC_DS06821,BMG_DS024539,"MONDO: A plague in which the bacteria have infected the lungs. | MeSH: An acute infectious disease caused by YERSINIA PESTIS that affects humans, wild rodents, and their ectoparasites. This condition persists due to its firm entrenchment in sylvatic rodent-flea ecosystems throughout the world. Bubonic plague is the most common form."
+BMGC_DS06822,BMG_DS024540,"HPO: Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung. [PMID:29770793] | MeSH: Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS."
+BMGC_DS06823,BMG_DS024545,MONDO: A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax. | MeSH: A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or PNEUMOTHORAX.
+BMGC_DS06824,BMG_DS024546,MONDO: A neoplasm (disease) that involves the retina. | MeSH: Tumors or cancer of the RETINA.
+BMGC_DS06825,BMG_DS024547,"MONDO: Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disk of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas. | MeSH: Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain."
+BMGC_DS06826,BMG_DS024548,"MONDO: Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) | MeSH: Reduction of CEREBROSPINAL FLUID pressure characterized clinically by ORTHOSTATIC HEADACHE and occasionally by an ABDUCENS NERVE PALSY; HEARING LOSS; NAUSEA; neck stiffness, and other symptoms. This condition may be spontaneous or secondary to CEREBROSPINAL FLUID LEAK; SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)"
+BMGC_DS06827,BMG_DS024549,MeSH: Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
+BMGC_DS06828,BMG_DS024550,"MONDO: Chronic form of hepatitis B infection. | MeSH: INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact."
+BMGC_DS06829,BMG_DS024551,MONDO: Chronic form of hepatitis C infection. | MeSH: INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS.
+BMGC_DS06830,BMG_DS024553,"MeSH: Liver disease lasting six months or more, caused by an adverse effect of a drug or chemical. The adverse effect may be caused by drugs, drug metabolites, chemicals from the environment, or an idiosyncratic response."
+BMGC_DS06831,BMG_DS024554,"MONDO: A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. | MeSH: An extremely rare condition manifested as monoclonal IMMUNOGLOBULIN M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate."
+BMGC_DS06832,BMG_DS024555,MONDO: A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.
+BMGC_DS06833,BMG_DS024558,ORPHANET: Gaisbock syndrome is characterised by secondary polycythemia.
+BMGC_DS06834,BMG_DS024559,"NCI: An electrocardiographic finding in which a failure of impulse formation or conduction in the sinus node produces prolongation of the P-P interval or dropped P waves. The threshold for the prolongation of the P-P interval is not well defined. (CDISC) | MONDO: Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves."
+BMGC_DS06835,BMG_DS024560,MONDO: The loss of muscle tissue due to inactivity or disease.
+BMGC_DS06836,BMG_DS024561,NCI: A carcinoma that arises from the duodenum. The vast majority of cases are adenocarcinomas. | MONDO: A carcinoma that involves the duodenum.
+BMGC_DS06837,BMG_DS024565,
+BMGC_DS06838,BMG_DS024573,
+BMGC_DS06839,BMG_DS024575,"NCI: A congenital abnormality characterized by the absence of one or both kidneys. | MONDO: Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)."
+BMGC_DS06840,BMG_DS024576,NCI: A meningioma that affects the cerebral hemispheres. | MONDO: A meningioma that affects the cerebral hemispheres.
+BMGC_DS06841,BMG_DS024577,"ORPHANET: A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. | MONDO: A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation."
+BMGC_DS06842,BMG_DS024579,"HPO: An increased concentration of glycine in the urine. [HPO_CONTRIBUTOR:gcarletti, PMID:18901181, PMID:20240447]"
+BMGC_DS06843,BMG_DS024591,MeSH: Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
+BMGC_DS06844,BMG_DS024596,"ORPHANET: A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome. | MONDO: A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34."
+BMGC_DS06845,BMG_DS024600,"MeSH: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)."
+BMGC_DS06846,BMG_DS024602,"ORPHANET: A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients."
+BMGC_DS06847,BMG_DS024607,
+BMGC_DS06848,BMG_DS024609,"MeSH: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS06849,BMG_DS024610,"ORPHANET: A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam. | MeSH: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)"
+BMGC_DS06850,BMG_DS024611,"ORPHANET: Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the &lt;i&gt;NPHP1&lt;/i&gt; gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. | MONDO: Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type."
+BMGC_DS06851,BMG_DS024613,"HPO: A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. [PMID:21590624, PMID:23213494]"
+BMGC_DS06852,BMG_DS024614,MONDO: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15.
+BMGC_DS06853,BMG_DS024615,"ORPHANET: A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy. | MONDO: Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy."
+BMGC_DS06854,BMG_DS024618,"MeSH: Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL."
+BMGC_DS06855,BMG_DS024621,"NCI: A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the skeletal muscle. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize. | MeSH: Inflammation of a muscle or muscle tissue."
+BMGC_DS06856,BMG_DS024629,MONDO: Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.
+BMGC_DS06857,BMG_DS024630,"NCI: A congenital condition characterized by the presence of giant and/or multiple satellite congenital melanocytic nevi in the skin and benign melanocytic pigmentation of the leptomeninges. | MONDO: Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death."
+BMGC_DS06858,BMG_DS024633,"SNOMEDCT_US: A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight | MONDO: Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later"
+BMGC_DS06859,BMG_DS024634,"NCI: A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma. | MONDO: Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS."
+BMGC_DS06860,BMG_DS024635,MONDO: Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site. | MeSH: Two or more distinct types of malignant lymphoid tumors occurring within a single organ or tissue at the same time. It may contain different types of non-Hodgkin lymphoma cells or both Hodgkin and non-Hodgkin lymphoma cells.
+BMGC_DS06861,BMG_DS024638,"ORPHANET: Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. | MONDO: Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. | MeSH: A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)"
+BMGC_DS06862,BMG_DS024640,"NCI: A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. | MONDO: A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. | MeSH: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality."
+BMGC_DS06863,BMG_DS024643,NCI: Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. | MONDO: Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes.
+BMGC_DS06864,BMG_DS024651,ORPHANET: Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. | MONDO: Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars.
+BMGC_DS06865,BMG_DS024653,
+BMGC_DS06866,BMG_DS024654,MONDO: A cancer that involves the intrahepatic bile duct.
+BMGC_DS06867,BMG_DS024655,MONDO: A primary or metastatic malignant neoplasm involving the esophagus.
+BMGC_DS06868,BMG_DS024656,"HPO: The combination of pendular nystagmus, head nodding, and torticollis. [https://orcid.org/0000-0002-0736-9199, PMID:7499100] | MONDO: Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis."
+BMGC_DS06869,BMG_DS024664,"MONDO: Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. | MeSH: Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix."
+BMGC_DS06870,BMG_DS024665,"NCI: A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention."
+BMGC_DS06871,BMG_DS024673,NCI: An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin. | MONDO: An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.
+BMGC_DS06872,BMG_DS024674,"ORPHANET: Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances. | MONDO: Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances. | MeSH: Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in man. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans."
+BMGC_DS06873,BMG_DS024676,"SNOMEDCT_US: A type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and in some cases subarachnoid hemorrhage. | MONDO: A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)"
+BMGC_DS06874,BMG_DS024687,
+BMGC_DS06875,BMG_DS024689,"MONDO: A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash. | MeSH: A group of arthropod-borne diseases caused by spotted fever bio-group members of RICKETTSIA. They are characterized by fever, headache, and petechial (spotted) rash."
+BMGC_DS06876,BMG_DS024698,MeSH: An inflammation of MEIBOMIAN GLANDS.
+BMGC_DS06877,BMG_DS024700,"NCI: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. | MONDO: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. | MeSH: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA."
+BMGC_DS06878,BMG_DS024701,"NCI: An X-linked immunodeficiency syndrome that exclusively affects males, although females can be carriers. It is caused by mutation(s) in SH2D1A and/or XIAP genes and is characterized by life-threatening episodes of infectious mononucleosis, hypogammaglobulinemia, and subsequent development of lymphomas (usually B-cell lymphomas) and other lymphoproliferative disorders. | MONDO: X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)."
+BMGC_DS06879,BMG_DS024703,
+BMGC_DS06880,BMG_DS024704,MONDO: A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.
+BMGC_DS06881,BMG_DS024706,"NCI: A carcinoma arising from the thyroid gland. It includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic carcinoma. | MONDO: A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic."
+BMGC_DS06882,BMG_DS024707,"MeSH: Diseases affecting PIGMENTATION, including SKIN PIGMENTATION."
+BMGC_DS06883,BMG_DS024709,
+BMGC_DS06884,BMG_DS024712,"NCI: An arteritis characterized by the presence of inflammation and necrosis in the arterial wall. | MeSH: A form of necrotizing non-granulomatous inflammation occurring primarily in medium-sized ARTERIES, often with microaneurysms. It is characterized by muscle, joint, and abdominal pain resulting from arterial infarction and scarring in affected organs. Polyarteritis nodosa with lung involvement is called CHURG-STRAUSS SYNDROME."
+BMGC_DS06885,BMG_DS024713,"MeSH: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)"
+BMGC_DS06886,BMG_DS024719,"MONDO: A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms."
+BMGC_DS06887,BMG_DS024720,"MONDO: Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual."
+BMGC_DS06888,BMG_DS024722,"MeSH: Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition."
+BMGC_DS06889,BMG_DS024726,
+BMGC_DS06890,BMG_DS024729,HPO: Decreased concentration of fibrinogen in the blood. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06891,BMG_DS024732,
+BMGC_DS06892,BMG_DS024734,HPO: Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. [https://orcid.org/0000-0002-0736-9199] | MONDO: A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.
+BMGC_DS06893,BMG_DS024735,"MONDO: An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. | MeSH: Presence of CALCIUM PYROPHOSPHATE in the connective tissues such as the cartilaginous structures of joints. When accompanied by GOUT-like symptoms, it is referred to as pseudogout."
+BMGC_DS06894,BMG_DS024743,MeSH: Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.
+BMGC_DS06895,BMG_DS024750,"MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS06896,BMG_DS024772,"MONDO: A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator. | MeSH: A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)."
+BMGC_DS06897,BMG_DS024821,"MeSH: Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9)"
+BMGC_DS06898,BMG_DS024827,
+BMGC_DS06899,BMG_DS024834,MeSH: Infections with bacteria of the genus STREPTOCOCCUS.
+BMGC_DS06900,BMG_DS024837,MONDO: A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia.
+BMGC_DS06901,BMG_DS024846,NCI: A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma. | MONDO: A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.
+BMGC_DS06902,BMG_DS024848,"NCI: A grade 3 or grade 4 glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma. | MONDO: A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma."
+BMGC_DS06903,BMG_DS024850,"HPO: A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. [PMID:28613730, PMID:32706613] | MONDO: Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache."
+BMGC_DS06904,BMG_DS024851,HPO: The presence of multiple lung cysts. [PMID:20028879]
+BMGC_DS06905,BMG_DS024859,
+BMGC_DS06906,BMG_DS024884,NCI: Gastroenteritis resulting from a bacterial infection.
+BMGC_DS06907,BMG_DS024901,
+BMGC_DS06908,BMG_DS024961,MeSH: Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
+BMGC_DS06909,BMG_DS024971,"NCI: A rare glioblastoma that arises from the spinal cord and occurs in adults. | MONDO: A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)"
+BMGC_DS06910,BMG_DS024992,NCI: A neuroblastoma arising from the central nervous system. | MONDO: A neuroblastoma arising from the cerebral hemispheres.
+BMGC_DS06911,BMG_DS024994,NCI: A neuroblastoma arising from the adrenal gland. | MONDO: A neuroblastoma arising from the adrenal gland.
+BMGC_DS06912,BMG_DS024995,
+BMGC_DS06913,BMG_DS024996,
+BMGC_DS06914,BMG_DS024997,"MONDO: Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. | MeSH: Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome."
+BMGC_DS06915,BMG_DS025021,
+BMGC_DS06916,BMG_DS025045,"NCI: A squamous cell carcinoma or less frequently an adenocarcinoma, often associated with human papillomavirus (HPV) infection. Homosexual men are at particular risk. The most important prognostic factors are tumor stage and nodal status. | MONDO: A carcinoma that arises from epithelial cells of the anal canal"
+BMGC_DS06917,BMG_DS025046,NCI: Inflammation of the stomach resulting from viral infection. | MONDO: Inflammation of the stomach resulting from viral infection.
+BMGC_DS06918,BMG_DS025047,
+BMGC_DS06919,BMG_DS025151,HPO: Increased blood pressure during a pregnancy. [https://orcid.org/0009-0006-4530-3154]
+BMGC_DS06920,BMG_DS025163,"MONDO: Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure."
+BMGC_DS06921,BMG_DS025206,
+BMGC_DS06922,BMG_DS025751,
+BMGC_DS06923,BMG_DS025980,
+BMGC_DS06924,BMG_DS026054,
+BMGC_DS06925,BMG_DS026063,
+BMGC_DS06926,BMG_DS026064,
+BMGC_DS06927,BMG_DS026067,
+BMGC_DS06928,BMG_DS026068,
+BMGC_DS06929,BMG_DS026070,
+BMGC_DS06930,BMG_DS026073,
+BMGC_DS06931,BMG_DS026621,"NCI: An autosomal recessive disorder of creatine synthesis caused by mutations(s) in the GAMT gene on chromosome 19p13, encoding guanidinoacetate N-methyltransferase. It is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. | MONDO: A creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations."
+BMGC_DS06932,BMG_DS026622,"MONDO: Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. | MeSH: Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist."
+BMGC_DS06933,BMG_DS026623,ORPHANET: 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. | MONDO: 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.
+BMGC_DS06934,BMG_DS026625,
+BMGC_DS06935,BMG_DS026626,
+BMGC_DS06936,BMG_DS026631,"ORPHANET: Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)). | MONDO: Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD )."
+BMGC_DS06937,BMG_DS026647,"MeSH: Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS."
+BMGC_DS06938,BMG_DS026657,"MeSH: Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy."
+BMGC_DS06939,BMG_DS026660,HPO: Spastic weakness affecting all four limbs. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06940,BMG_DS026666,HPO: An abnormal structure of the first digit of the hand. []
+BMGC_DS06941,BMG_DS026673,MONDO: OBSOLETE. Allergic reaction to tree nuts that is triggered by the immune system. | MeSH: Allergic reaction to tree nuts that is triggered by the immune system.
+BMGC_DS06942,BMG_DS026679,"MONDO: Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein."
+BMGC_DS06943,BMG_DS026682,"MeSH: Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology."
+BMGC_DS06944,BMG_DS026693,
+BMGC_DS06945,BMG_DS026694,HPO: A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain. [PMID:11394453] | MONDO: A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria.
+BMGC_DS06946,BMG_DS026698,
+BMGC_DS06947,BMG_DS026699,
+BMGC_DS06948,BMG_DS026730,MONDO: A gonorrhea that involves the seminal vesicle.
+BMGC_DS06949,BMG_DS026738,HPO: Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. [PMID:25807072] | MONDO: Chronic form of idiopathic urticaria. | MeSH: Wheals (urticaria) and/or angioedema presented with daily symptoms lasting for more than 6 weeks. It may be classified into chronic spontaneous and chronic inducible urticaria depending on whether a specific trigger can be linked to the development of vascular reaction.
+BMGC_DS06950,BMG_DS026743,"HPO: Inflammation, or an inflammatory state in the large intestine. []"
+BMGC_DS06951,BMG_DS026784,HPO: A recurrent form of sinusitis. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS06952,BMG_DS026802,
+BMGC_DS06953,BMG_DS026804,"HPO: An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS06954,BMG_DS026808,
+BMGC_DS06955,BMG_DS026809,NCI: Total inability to hear sounds in one or both ears. | MeSH: A general term for the complete loss of the ability to hear from both ears.
+BMGC_DS06956,BMG_DS026860,NCI: A sarcoma that occurs in the retroperitoneal region. | MONDO: A sarcoma involving a retroperitoneal space.
+BMGC_DS06957,BMG_DS026863,
+BMGC_DS06958,BMG_DS026874,ORPHANET: An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH). | MONDO: Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
+BMGC_DS06959,BMG_DS026885,"NCI: Partial or complete paralysis of the hypoglossal nerve. | MeSH: Diseases of the twelfth cranial (hypoglossal) nerve or nuclei. The nuclei and fascicles of the nerve are located in the medulla, and the nerve exits the skull via the hypoglossal foramen and innervates the muscles of the tongue. Lower brain stem diseases, including ischemia and MOTOR NEURON DISEASES may affect the nuclei or nerve fascicles. The nerve may also be injured by diseases of the posterior fossa or skull base. Clinical manifestations include unilateral weakness of tongue musculature and lingual dysarthria, with deviation of the tongue towards the side of weakness upon attempted protrusion."
+BMGC_DS06960,BMG_DS026889,"ORPHANET: A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis. | MONDO: A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status."
+BMGC_DS06961,BMG_DS026894,"NCI: A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. | MONDO: A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs."
+BMGC_DS06962,BMG_DS026895,"NCI: A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. Fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor. | MONDO: A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor."
+BMGC_DS06963,BMG_DS026896,"NCI: A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites. | MONDO: A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites."
+BMGC_DS06964,BMG_DS026917,NCI: A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.
+BMGC_DS06965,BMG_DS026926,"MeSH: A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174)"
+BMGC_DS06966,BMG_DS026958,"NCI: A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. | MONDO: A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. | MeSH: Infection caused by HUMAN HERPES VIRUS 3 (e.g., CHICKENPOX and HERPES ZOSTER)."
+BMGC_DS06967,BMG_DS026972,"MONDO: Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors."
+BMGC_DS06968,BMG_DS026975,"NCI: A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site. | MONDO: A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site."
+BMGC_DS06969,BMG_DS026982,
+BMGC_DS06970,BMG_DS027011,"SNOMEDCT_US: An absence seizure with changes in tone that are more pronounced than in a typical absence seizure or the onset and/or cessation is not abrupt, often associated with slow (less than three per second), irregular, generalized spike-wave activity."
+BMGC_DS06971,BMG_DS027020,"HPO: A carcinoma of the larynx. [https://orcid.org/0000-0002-0736-9199, NCIT:C4855] | MONDO: Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation."
+BMGC_DS06972,BMG_DS027022,MONDO: A scoliosis with no known cause.
+BMGC_DS06973,BMG_DS027024,MONDO: A neoplasm (disease) that involves the adrenal medulla.
+BMGC_DS06974,BMG_DS027025,MONDO: Recurrent episodes of over-eating.
+BMGC_DS06975,BMG_DS027027,"MeSH: A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others."
+BMGC_DS06976,BMG_DS027030,MONDO: A neoplasm involving a lymph node.
+BMGC_DS06977,BMG_DS027036,ORPHANET: A rare inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. | MONDO: Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
+BMGC_DS06978,BMG_DS027037,"MONDO: Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma."
+BMGC_DS06979,BMG_DS027039,"MONDO: A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. | MeSH: Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acquired. Development of the acquired hyperhomocysteinemia is mostly associated with vitamins B and/or folate deficiency (e.g., PERNICIOUS ANEMIA, vitamin malabsorption). Familial hyperhomocysteinemia often results in a more severe elevation of total homocysteine and excretion into the urine, resulting in HOMOCYSTINURIA. Hyperhomocysteinemia is a risk factor for cardiovascular and neurodegenerative diseases, osteoporotic fractures and complications during pregnancy."
+BMGC_DS06980,BMG_DS027041,"NCI: A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma. | MONDO: A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma."
+BMGC_DS06981,BMG_DS027042,"NCI: A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. | MONDO: A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms."
+BMGC_DS06982,BMG_DS027044,
+BMGC_DS06983,BMG_DS027047,"MONDO: Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly."
+BMGC_DS06984,BMG_DS027048,
+BMGC_DS06985,BMG_DS027049,NCI: An infectious process affecting the urinary bladder.
+BMGC_DS06986,BMG_DS027051,"NCI: A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases. | MONDO: A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases."
+BMGC_DS06987,BMG_DS027052,NCI: A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas. | MONDO: A carcinoma that arises from epithelial cells of the ureter.
+BMGC_DS06988,BMG_DS027057,"NCI: One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease. | MONDO: A carcinoma that arises from epithelial cells of the prostate gland."
+BMGC_DS06989,BMG_DS027058,"MeSH: Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology."
+BMGC_DS06990,BMG_DS027059,NCI: Cessation of breathing and/or cardiac function.
+BMGC_DS06991,BMG_DS027060,"MeSH: Any disorder marked by obstruction of conducting airways of the lung. AIRWAY OBSTRUCTION may be acute, chronic, intermittent, or persistent."
+BMGC_DS06992,BMG_DS027063,"MeSH: Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people."
+BMGC_DS06993,BMG_DS027064,"MONDO: A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria. | MeSH: Sepsis associated with HYPOTENSION or hypoperfusion despite adequate fluid resuscitation. Perfusion abnormalities may include but are not limited to LACTIC ACIDOSIS; OLIGURIA; or acute alteration in mental status."
+BMGC_DS06994,BMG_DS027065,"ORPHANET: Subcorneal pustular dermatosis is a rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities. | MONDO: A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities."
+BMGC_DS06995,BMG_DS027066,"MeSH: An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44)"
+BMGC_DS06996,BMG_DS027067,"HPO: Addiction to cocaine. [] | MONDO: A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance."
+BMGC_DS06997,BMG_DS027068,MeSH: A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.
+BMGC_DS06998,BMG_DS027069,"MONDO: Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases. | MeSH: A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)."
+BMGC_DS06999,BMG_DS027070,"MONDO: Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets. | MeSH: Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS."
+BMGC_DS07000,BMG_DS027072,MONDO: An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss. | MeSH: A pathological process consisting of the formation of new blood vessels in the CHOROID.
+BMGC_DS07001,BMG_DS027074,"ORPHANET: A group of rare tumors of the vulva comprising HPV-associated and HPV-independent squamous cell carcinomas as the most frequent malignant vulvar tumors, basal cell carcinomas, adenocarcinomas, and Bartholin gland carcinomas. Depending on the type of tumor and disease stage, patients may present with a painless vulvar mass or ulcer, or with pruritus, a burning sensation, pain, or bleeding. | MONDO: A carcinoma that arises from epithelial cells of the mammalian vulva"
+BMGC_DS07002,BMG_DS027076,"MeSH: Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS."
+BMGC_DS07003,BMG_DS027077,MeSH: A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.
+BMGC_DS07004,BMG_DS027079,"MONDO: An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. | MeSH: Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM."
+BMGC_DS07005,BMG_DS027081,
+BMGC_DS07006,BMG_DS027082,"MONDO: An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. | MeSH: Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers."
+BMGC_DS07007,BMG_DS027083,"MONDO: Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0)"
+BMGC_DS07008,BMG_DS027084,HPO: A glioma affecting the brainstem. [https://orcid.org/0000-0002-0736-9199] | MONDO: A neuroglial tumor that arises from the brain stem.
+BMGC_DS07009,BMG_DS027085,MONDO: A neoplasm (disease) that involves the brainstem.
+BMGC_DS07010,BMG_DS027086,
+BMGC_DS07011,BMG_DS027091,
+BMGC_DS07012,BMG_DS027092,"MeSH: A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients."
+BMGC_DS07013,BMG_DS027093,
+BMGC_DS07014,BMG_DS027094,"MONDO: Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma."
+BMGC_DS07015,BMG_DS027095,HPO: The presence of a carcinoma of the breast. [https://orcid.org/0000-0002-0736-9199] | MONDO: A carcinoma that arises from epithelial cells of the breast
+BMGC_DS07016,BMG_DS027099,"HPO: A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. [PMID:16300038, PMID:25861336] | MONDO: A tuberculosis that occurs at body sites other than the lung. | MeSH: MYCOBACTERIUM infections of organs other than the lung."
+BMGC_DS07017,BMG_DS027104,"NCI: A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality. | MONDO: A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality."
+BMGC_DS07018,BMG_DS027105,MONDO: A carcinoma that arises from epithelial cells of the lung
+BMGC_DS07019,BMG_DS027106,
+BMGC_DS07020,BMG_DS027107,MONDO: Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency.
+BMGC_DS07021,BMG_DS027109,NCI: Evidence of a malignant neoplasm of the ventral surface of tongue.
+BMGC_DS07022,BMG_DS027110,MONDO: A small round cell tumor with neural differentiation arising from the soft tissues or bone.
+BMGC_DS07023,BMG_DS027118,MONDO: A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas.
+BMGC_DS07024,BMG_DS027148,NCI: A hemangioma arising from the subcutaneous soft tissues. | MONDO: A hemangioma arising from the subcutaneous soft tissues.
+BMGC_DS07025,BMG_DS027149,"HPO: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen. [PMID:11307096] | MONDO: A hemangioma arising from the spleen."
+BMGC_DS07026,BMG_DS027163,"NCI: A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. | MONDO: A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences."
+BMGC_DS07027,BMG_DS027164,"MONDO: 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation."
+BMGC_DS07028,BMG_DS027165,"MONDO: Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit."
+BMGC_DS07029,BMG_DS027166,"MONDO: Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings."
+BMGC_DS07030,BMG_DS027194,NCI: A primary or metastatic malignant neoplasm involving any part of the digestive system.
+BMGC_DS07031,BMG_DS027206,"MeSH: Drug-related movement disorder characterized by uncontrollable movements in certain muscles. It is associated with a long-term exposure to certain neuroleptic medications (e.g., METOCLOPRAMIDE)."
+BMGC_DS07032,BMG_DS027211,MONDO: Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. | MeSH: A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).
+BMGC_DS07033,BMG_DS027221,
+BMGC_DS07034,BMG_DS027230,NCI: A primary or metastatic malignant neoplasm involving the oculomotor nerve. | MONDO: A cancer involving a oculomotor nerve.
+BMGC_DS07035,BMG_DS027253,"HPO: Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. [HPO_CONTRIBUTOR:Eurenomics_fschaefer] | MONDO: Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure."
+BMGC_DS07036,BMG_DS027254,NCI: A hemangioma arising from the skin. | MONDO: A hemangioma arising from the skin.
+BMGC_DS07037,BMG_DS027255,
+BMGC_DS07038,BMG_DS027256,"NCI: A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion. | MONDO: A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors."
+BMGC_DS07039,BMG_DS027257,MONDO: A common presentation of craniosynostosis and polysyndactyly.
+BMGC_DS07040,BMG_DS027259,MONDO: Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). | MeSH: A genetic or acquired polyuric disorder caused by a deficiency of VASOPRESSINS secreted by the NEUROHYPOPHYSIS. Clinical signs include the excretion of large volumes of dilute URINE; HYPERNATREMIA; THIRST; and polydipsia. Etiologies include HEAD TRAUMA; surgeries and diseases involving the HYPOTHALAMUS and the PITUITARY GLAND. This disorder may also be caused by mutations of genes such as ARVP encoding vasopressin and its corresponding neurophysin (NEUROPHYSINS).
+BMGC_DS07041,BMG_DS027260,HPO: Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS07042,BMG_DS027288,NCI: Pneumonia that is not acquired in a hospital or long-term care facility setting. | MeSH: Infection of the lungs in a patient who is not hospitalized or who has not resided in a long-term care facility for 14 days prior to the onset of symptoms. It is associated with some signs and symptoms of acute infection and is accompanied by the presence of an acute infiltrate on chest radiograph.(US Pharm. 2007;32(10):44-5 https://www.uspharmacist.com/article/community-acquired-pneumonia)
+BMGC_DS07043,BMG_DS027291,
+BMGC_DS07044,BMG_DS027292,MONDO: Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body. | MeSH: Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body.
+BMGC_DS07045,BMG_DS027293,"MeSH: Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS07046,BMG_DS027295,"MeSH: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)"
+BMGC_DS07047,BMG_DS027296,
+BMGC_DS07048,BMG_DS027297,"ORPHANET: Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms). | MONDO: A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."
+BMGC_DS07049,BMG_DS027298,"MONDO: A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting."
+BMGC_DS07050,BMG_DS027299,NCI: A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. | MONDO: A carcinoma that arises from epithelial cells of the colon
+BMGC_DS07051,BMG_DS027300,"NCI: A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium. | MONDO: A carcinoma that arises from epithelial cells of the stomach."
+BMGC_DS07052,BMG_DS027301,"MONDO: Serotoninergic syndrome is characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs)."
+BMGC_DS07053,BMG_DS027304,HPO: The presence of a carcinoma of the urinary bladder. [https://orcid.org/0000-0002-0736-9199] | MONDO: A carcinoma that arises from epithelial cells of the urinary bladder
+BMGC_DS07054,BMG_DS027305,"MONDO: A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma."
+BMGC_DS07055,BMG_DS027307,NCI: A carcinoma that arises from the skin. Representative examples are basal cell carcinoma and squamous cell carcinoma. | MONDO: A carcinoma that arises from epithelial cells of the zone of skin
+BMGC_DS07056,BMG_DS027309,
+BMGC_DS07057,BMG_DS027311,"NCI: A carcinoma that arises from the urethra. Morphologically, the tumors are similar to those described in the bladder."
+BMGC_DS07058,BMG_DS027312,"NCI: A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate. | MONDO: A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate."
+BMGC_DS07059,BMG_DS027317,
+BMGC_DS07060,BMG_DS027318,
+BMGC_DS07061,BMG_DS027319,"MONDO: A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand. | MeSH: Diseases of the cervical (and first thoracic) roots, nerve trunks, cords, and peripheral nerve components of the BRACHIAL PLEXUS. Clinical manifestations include regional pain, PARESTHESIA; MUSCLE WEAKNESS, and decreased sensation (HYPESTHESIA) in the upper extremity. These disorders may be associated with trauma (including BIRTH INJURIES); THORACIC OUTLET SYNDROME; NEOPLASMS; NEURITIS; RADIOTHERAPY; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp1351-2)"
+BMGC_DS07062,BMG_DS027320,"HPO: Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS07063,BMG_DS027321,
+BMGC_DS07064,BMG_DS027323,MONDO: Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. | MeSH: Infection of the VULVA and VAGINA with a fungus of the genus CANDIDA.
+BMGC_DS07065,BMG_DS027325,"HPO: A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. [] | MONDO: Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis."
+BMGC_DS07066,BMG_DS027327,"MeSH: A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS07067,BMG_DS027329,"MONDO: Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) | MeSH: Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)"
+BMGC_DS07068,BMG_DS027332,
+BMGC_DS07069,BMG_DS027335,MONDO: An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual.
+BMGC_DS07070,BMG_DS027336,"MONDO: Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root. | MeSH: Disease involving a spinal nerve root (see SPINAL NERVE ROOTS) which may result from compression related to INTERVERTEBRAL DISK DISPLACEMENT; SPINAL CORD INJURIES; SPINAL DISEASES; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root."
+BMGC_DS07071,BMG_DS027337,"MeSH: A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)"
+BMGC_DS07072,BMG_DS027339,"ORPHANET: Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). | MONDO: A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."
+BMGC_DS07073,BMG_DS027342,NCI: An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. | MONDO: An instance of hypertrophic pyloric stenosis that is inherited.
+BMGC_DS07074,BMG_DS027350,
+BMGC_DS07075,BMG_DS027353,MONDO: Presence or formation of gallstones in the common bile duct. | MeSH: Presence or formation of GALLSTONES in the COMMON BILE DUCT.
+BMGC_DS07076,BMG_DS027355,
+BMGC_DS07077,BMG_DS027363,
+BMGC_DS07078,BMG_DS027366,
+BMGC_DS07079,BMG_DS027369,"MONDO: An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin. | MeSH: A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors."
+BMGC_DS07080,BMG_DS027375,NCI: A malignant neoplasm affecting the nasal cavity. Representative examples include carcinoma and lymphoma. | MONDO: A malignant neoplasm involving the nasal cavity
+BMGC_DS07081,BMG_DS027376,
+BMGC_DS07082,BMG_DS027378,NCI: A malignant epithelial neoplasm arising from the appendix. The vast majority of the cases are adenocarcinomas. | MONDO: A carcinoma that arises from epithelial cells of the vermiform appendix
+BMGC_DS07083,BMG_DS027380,
+BMGC_DS07084,BMG_DS027386,NCI: Spontaneous rupture of fetal membranes that occurs before the onset of labor and before 37 weeks. | MONDO: A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.
+BMGC_DS07085,BMG_DS027393,
+BMGC_DS07086,BMG_DS027394,
+BMGC_DS07087,BMG_DS027395,
+BMGC_DS07088,BMG_DS027399,"MONDO: A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine."
+BMGC_DS07089,BMG_DS027410,
+BMGC_DS07090,BMG_DS027413,
+BMGC_DS07091,BMG_DS027426,"MONDO: Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay."
+BMGC_DS07092,BMG_DS027429,
+BMGC_DS07093,BMG_DS027430,
+BMGC_DS07094,BMG_DS027450,
+BMGC_DS07095,BMG_DS027502,SNOMEDCT_US: The following must be present on at least one OCT (Optical coherence tomography ) scan image: (i) Partial vitreous detachment as indicated by elevation of cortical vitreous above the retinal surface in the perifoveal area (ii) Persistent vitreous attachment.
+BMGC_DS07096,BMG_DS027506,
+BMGC_DS07097,BMG_DS027513,
+BMGC_DS07098,BMG_DS027518,"MONDO: An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. | MeSH: A general term which describes a group of rare eye disorders that affect the cone cells of the RETINA. Cone dystrophy can cause a variety of symptoms including decreased visual clarity or acuity when looking straight ahead (central vision), a reduced ability to see colors, and an increased sensitivity to light (PHOTOPHOBIA)."
+BMGC_DS07099,BMG_DS027519,
+BMGC_DS07100,BMG_DS027520,"HPO: Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS07101,BMG_DS027522,"NCI: An autosomal dominant form of macular dystrophy associated with mutation(s) in the DNase1 hypersensitivity site DHS6S1. | MONDO: North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination."
+BMGC_DS07102,BMG_DS027523,MONDO: A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.
+BMGC_DS07103,BMG_DS027530,NCI: A hemangioblastoma that arises from the retina. It can occur sporadically or as part of von Hippel- Lindau syndrome. | MONDO: A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement.
+BMGC_DS07104,BMG_DS027532,NCI: A lymphoma that arises from the eye. | MONDO: A lymphoma that involves the eye.
+BMGC_DS07105,BMG_DS027558,
+BMGC_DS07106,BMG_DS027563,HPO: A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. [PMID:34230606]
+BMGC_DS07107,BMG_DS027575,
+BMGC_DS07108,BMG_DS027584,
+BMGC_DS07109,BMG_DS027588,"NCI: An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus. | MONDO: X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. | MeSH: A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported."
+BMGC_DS07110,BMG_DS027589,NCI: A carcinoma of the larynx that arises from the glottic area. | MONDO: A carcinoma that arises from epithelial cells of the glottis.
+BMGC_DS07111,BMG_DS027591,MONDO: A carcinoma that arises from epithelial cells of the bile duct
+BMGC_DS07112,BMG_DS027592,"MONDO: A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)"
+BMGC_DS07113,BMG_DS027593,"NCI: An autosomal dominant inherited form of amyloidosis. | MONDO: Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. | MeSH: Diseases in which there is a familial pattern of AMYLOIDOSIS."
+BMGC_DS07114,BMG_DS027595,"MeSH: Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ISCHEMIA; traumatic injury; compression; CONNECTIVE TISSUE DISEASES; CUMULATIVE TRAUMA DISORDERS; and other conditions."
+BMGC_DS07115,BMG_DS027596,"NCI: A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. | MONDO: A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site."
+BMGC_DS07116,BMG_DS027598,"MeSH: NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."
+BMGC_DS07117,BMG_DS027599,"MeSH: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)"
+BMGC_DS07118,BMG_DS027600,"MONDO: Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction. | MeSH: NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."
+BMGC_DS07119,BMG_DS027601,"MeSH: Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT."
+BMGC_DS07120,BMG_DS027605,MONDO: Acute form of diarrhea.
+BMGC_DS07121,BMG_DS027606,
+BMGC_DS07122,BMG_DS027608,MONDO: Primary or metastatic malignant neoplasm involving the kidney.
+BMGC_DS07123,BMG_DS027609,"NCI: A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs. | MONDO: A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs."
+BMGC_DS07124,BMG_DS027610,"NCI: Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative. | MONDO: Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative."
+BMGC_DS07125,BMG_DS027611,"NCI: A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma. | MONDO: A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma."
+BMGC_DS07126,BMG_DS027616,MONDO: The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed.
+BMGC_DS07127,BMG_DS027628,"NCI: A ruptured aneurysm located in the wall of the aorta. | MeSH: The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA."
+BMGC_DS07128,BMG_DS027638,"HPO: An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. [https://orcid.org/0000-0002-0736-9199, ISBN:0199747725, PMID:28261574]"
+BMGC_DS07129,BMG_DS027641,MeSH: Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
+BMGC_DS07130,BMG_DS027644,HPO: Wasting (atrophy) of the vermis of cerebellum. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS07131,BMG_DS027646,NCI: Inflammation of the cerebrum. | MONDO: Inflammation of the cerebrum.
+BMGC_DS07132,BMG_DS027647,"MeSH: Disease involving a spinal nerve root (see SPINAL NERVE ROOTS) which may result from compression related to INTERVERTEBRAL DISK DISPLACEMENT; SPINAL CORD INJURIES; SPINAL DISEASES; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root."
+BMGC_DS07133,BMG_DS027650,"MONDO: A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia. | MeSH: Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, accompanied by symptoms of fever, cough, chest pain, tachypnea, or DYSPNEA, often seen in patients with SICKLE CELL ANEMIA. Multiple factors (e.g., infection, and pulmonary FAT EMBOLISM) may contribute to the development of the syndrome."
+BMGC_DS07134,BMG_DS027658,"MeSH: Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence."
+BMGC_DS07135,BMG_DS027659,
+BMGC_DS07136,BMG_DS027662,"NCI: An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells. | MONDO: An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells."
+BMGC_DS07137,BMG_DS027666,"HPO: A type of dystonia that is localized to a specific part of the body. [https://orcid.org/0000-0002-0736-9199] | MONDO: A dystonia that is localized to a specific part of the body. | MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07138,BMG_DS027675,"HPO: A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible. [NCIT:C27200, PMID:25069607] | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS07139,BMG_DS027677,"NCI: Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. | MONDO: Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function."
+BMGC_DS07140,BMG_DS027689,"SNOMEDCT_US: A rare movement disorder characterised by involuntary spasmodic contractions of the inspiratory muscles synchronised with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. | MONDO: Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours."
+BMGC_DS07141,BMG_DS027690,
+BMGC_DS07142,BMG_DS027691,"HPO: A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter. [PMID:20538328] | MeSH: Abnormal increase of EOSINOPHILS in the blood, tissues or organs."
+BMGC_DS07143,BMG_DS027692,MeSH: Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis. | MeSH: A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
+BMGC_DS07144,BMG_DS027693,HPO: Elevated systolic blood pressure without an elevated blood pressure. [PMID:21947466] | MeSH: Hypertension with elevated systolic and normal diastolic blood pressure. It is the most common subtype in the elderly and is related to VASCULAR STIFFNESS and ATHEROSCLEROTIC PLAQUE buildup.
+BMGC_DS07145,BMG_DS027694,NCI: Hypertensive crisis with acute or ongoing end-organ damage.
+BMGC_DS07146,BMG_DS027695,"NCI: Hypertensive crisis without end-organ damage. | MONDO: A hypertensive disorder that is characterized by marked elevation in blood pressure, such as systolic blood pressure greater than 180 mmHg or diastolic blood pressure greater than 110 mmHg, and without evidence of target organ damage, such as pulmonary edema, cardiac ischemia, neurologic deficits, or acute renal failure. | MeSH: A severe, acute increase in BLOOD PRESSURE that may result in STROKE or MYOCARDIAL ISCHEMIA."
+BMGC_DS07147,BMG_DS027704,"NCI: A disorder characterized by irreversible damage to the liver tissue, leading to complete liver failure. Causes include cirrhosis, viral hepatitis, metastases to the liver, genetic disorders, toxins, and drugs. | MeSH: Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed."
+BMGC_DS07148,BMG_DS027708,"NCI: A persistent non-neoplastic disorder of the lungs. Representative examples include: chronic obstructive pulmonary disease, chronic bronchitis, emphysema, pulmonary fibrosis, pneumoconiosis, asbestosis, atelectasis, radiation induced pneumonitis, and radiation fibrosis."
+BMGC_DS07149,BMG_DS027714,"MeSH: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)"
+BMGC_DS07150,BMG_DS027715,MONDO: A myocardial infarction (disease) that involves the cardiac septum.
+BMGC_DS07151,BMG_DS027721,"NCI: Neutropenia associated with fever, the latter indicating the presence of an infection. | MeSH: Fever accompanied by a significant reduction in the number of NEUTROPHILS."
+BMGC_DS07152,BMG_DS027726,"HPO: Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS07153,BMG_DS027727,NCI: The inability of the ovaries to function.
+BMGC_DS07154,BMG_DS027730,"NCI: A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma. | MONDO: A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma."
+BMGC_DS07155,BMG_DS027732,"MONDO: Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31) | MeSH: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"
+BMGC_DS07156,BMG_DS027747,
+BMGC_DS07157,BMG_DS027749,"MONDO: Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus. | MeSH: Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS."
+BMGC_DS07158,BMG_DS027754,"SNOMEDCT_US: An autoimmune disorder characterised by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive. | MONDO: An autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc)."
+BMGC_DS07159,BMG_DS027755,
+BMGC_DS07160,BMG_DS027758,"HPO: Inflammation of the sacroiliac joint, generally accompanied by lower back pain. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS07161,BMG_DS027759,"MONDO: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. | MeSH: The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma."
+BMGC_DS07162,BMG_DS027761,NCI: A benign or malignant neoplasm that occurs in the sellar region. Representative examples include craniopharyngioma and pituitary gland adenoma. | MONDO: A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.
+BMGC_DS07163,BMG_DS027770,
+BMGC_DS07164,BMG_DS027772,"NCI: A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue. | MONDO: A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue."
+BMGC_DS07165,BMG_DS027777,"NCI: Absence of the thyroid gland in a newborn. | MONDO: Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."
+BMGC_DS07166,BMG_DS027778,"NCI: A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent."
+BMGC_DS07167,BMG_DS027790,
+BMGC_DS07168,BMG_DS027794,"MeSH: Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS."
+BMGC_DS07169,BMG_DS027795,"MeSH: Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS."
+BMGC_DS07170,BMG_DS027796,"MeSH: Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS."
+BMGC_DS07171,BMG_DS027797,MONDO: A malignant neoplasm involving the adrenal gland
+BMGC_DS07172,BMG_DS027798,"MeSH: An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)"
+BMGC_DS07173,BMG_DS027799,"NCI: Evidence of Alzheimer's disease with early onset. | MeSH: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)"
+BMGC_DS07174,BMG_DS027800,"MeSH: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications."
+BMGC_DS07175,BMG_DS027801,"MONDO: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications. | MeSH: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications."
+BMGC_DS07176,BMG_DS027802,"MeSH: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life."
+BMGC_DS07177,BMG_DS027803,"ORPHANET: A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits."
+BMGC_DS07178,BMG_DS027804,"HPO: Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) [https://orcid.org/0000-0002-0736-9199, PMID:28613730] | MONDO: Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic."
+BMGC_DS07179,BMG_DS027807,NCI: An astrocytoma that arises from the cerebral hemispheres. | MONDO: An astrocytoma that arises from the cerebral hemispheres.
+BMGC_DS07180,BMG_DS027808,"HPO: Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. [PMID:6568936] | MeSH: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions."
+BMGC_DS07181,BMG_DS027810,"MeSH: Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems."
+BMGC_DS07182,BMG_DS027811,"MONDO: A disease or disorder that involves the parasympathetic nervous system. | MeSH: Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems."
+BMGC_DS07183,BMG_DS027812,"MONDO: A disease or disorder that involves the sympathetic nervous system. | MeSH: Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems."
+BMGC_DS07184,BMG_DS027813,MeSH: Acute or chronic pain located in the posterior regions of the THORAX; LUMBOSACRAL REGION; or the adjacent regions.
+BMGC_DS07185,BMG_DS027814,MeSH: Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
+BMGC_DS07186,BMG_DS027815,MONDO: A malignant neoplasm involving the biliary tree
+BMGC_DS07187,BMG_DS027816,"MONDO: OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). | MeSH: Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES."
+BMGC_DS07188,BMG_DS027817,"MONDO: OBSOLETE. Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). | MeSH: Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES."
+BMGC_DS07189,BMG_DS027818,MeSH: The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
+BMGC_DS07190,BMG_DS027823,"MeSH: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function."
+BMGC_DS07191,BMG_DS027824,NCI: A neoplasm arising from the brain.
+BMGC_DS07192,BMG_DS027825,
+BMGC_DS07193,BMG_DS027826,"MeSH: Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology."
+BMGC_DS07194,BMG_DS027827,"MeSH: Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology."
+BMGC_DS07195,BMG_DS027828,"MeSH: Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX."
+BMGC_DS07196,BMG_DS027829,"MeSH: Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX."
+BMGC_DS07197,BMG_DS027830,"MeSH: Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX."
+BMGC_DS07198,BMG_DS027832,"MeSH: A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994)"
+BMGC_DS07199,BMG_DS027834,"MeSH: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)"
+BMGC_DS07200,BMG_DS027835,"MONDO: A congenital or acquired aneurysm within the cranium. | MeSH: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)"
+BMGC_DS07201,BMG_DS027836,"MeSH: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)"
+BMGC_DS07202,BMG_DS027837,"MeSH: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)"
+BMGC_DS07203,BMG_DS027838,MeSH: Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS.
+BMGC_DS07204,BMG_DS027839,"MeSH: The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction)."
+BMGC_DS07205,BMG_DS027840,"MeSH: The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction)."
+BMGC_DS07206,BMG_DS027841,"MeSH: The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction)."
+BMGC_DS07207,BMG_DS027842,"MeSH: The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction)."
+BMGC_DS07208,BMG_DS027843,"MeSH: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)"
+BMGC_DS07209,BMG_DS027844,"MeSH: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)"
+BMGC_DS07210,BMG_DS027845,"MeSH: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)"
+BMGC_DS07211,BMG_DS027846,"MeSH: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)"
+BMGC_DS07212,BMG_DS027847,"NCI: A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. | MONDO: A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. | MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS07213,BMG_DS027848,"MeSH: A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)"
+BMGC_DS07214,BMG_DS027852,"ORPHANET: Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. | MONDO: Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity."
+BMGC_DS07215,BMG_DS027853,"MONDO: Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood. | MeSH: Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore. | MeSH: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms."
+BMGC_DS07216,BMG_DS027854,"MONDO: Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. | MeSH: Caused by mutations of gene ERCC6. | MeSH: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms."
+BMGC_DS07217,BMG_DS027855,"MONDO: Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. | MeSH: Caused by mutations of gene CKN1. | MeSH: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms."
+BMGC_DS07218,BMG_DS027856,"NCI: Genetic based difficulty in distinguishing colors. | MeSH: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue."
+BMGC_DS07219,BMG_DS027857,"MeSH: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue."
+BMGC_DS07220,BMG_DS027858,"HPO: A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. [HPO_CONTRIBUTOR:jalbers, PMID:19125841, PMID:972656] | MeSH: Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)"
+BMGC_DS07221,BMG_DS027859,"MeSH: Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate."
+BMGC_DS07222,BMG_DS027860,MeSH: A general term for the complete loss of the ability to hear from both ears.
+BMGC_DS07223,BMG_DS027861,"MeSH: Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)"
+BMGC_DS07224,BMG_DS027863,MeSH: A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE.
+BMGC_DS07225,BMG_DS027864,"MeSH: A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)"
+BMGC_DS07226,BMG_DS027865,"MONDO: Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene. | MeSH: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE."
+BMGC_DS07227,BMG_DS027866,"MeSH: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE."
+BMGC_DS07228,BMG_DS027867,"MeSH: Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)"
+BMGC_DS07229,BMG_DS027868,
+BMGC_DS07230,BMG_DS027869,"MeSH: A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS."
+BMGC_DS07231,BMG_DS027871,"MeSH: An acute or subacute inflammatory process of the CENTRAL NERVOUS SYSTEM characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include CONFUSION, somnolence, FEVER, nuchal rigidity, and involuntary movements. The illness may progress to COMA and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)"
+BMGC_DS07232,BMG_DS027872,"MeSH: An acute or subacute inflammatory process of the CENTRAL NERVOUS SYSTEM characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include CONFUSION, somnolence, FEVER, nuchal rigidity, and involuntary movements. The illness may progress to COMA and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)"
+BMGC_DS07233,BMG_DS027873,"MONDO: An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921) | MeSH: An acute or subacute inflammatory process of the CENTRAL NERVOUS SYSTEM characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include CONFUSION, somnolence, FEVER, nuchal rigidity, and involuntary movements. The illness may progress to COMA and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921)"
+BMGC_DS07234,BMG_DS027878,"MeSH: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, SEIZURES, and COMA. It may follow a viral illness or MYCOPLASMA PNEUMONIAE infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5)"
+BMGC_DS07235,BMG_DS027879,"MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS07236,BMG_DS027880,"MeSH: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)"
+BMGC_DS07237,BMG_DS027881,"NCI: A seizure with no apparent symptoms. | MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS07238,BMG_DS027882,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS07239,BMG_DS027883,"MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS07240,BMG_DS027884,"MeSH: A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)"
+BMGC_DS07241,BMG_DS027885,"MeSH: A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)"
+BMGC_DS07242,BMG_DS027886,"MeSH: A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)"
+BMGC_DS07243,BMG_DS027887,"ORPHANET: A rare infantile epilepsy syndrome characterized by infancy-onset of myoclonic seizures in otherwise neurologically and developmentally normal patients. Jerks may vary in severity, can be singular or occur in a series, and occur spontaneously or (less commonly) after sensory stimuli. Seizures are self-limiting and remit within several months to years from onset, although generalized tonic-clonic seizures or other forms of epilepsy may be seen later in life. Developmental delay and cognitive and behavioral difficulties have been reported in a considerable percentage of patients. | MONDO: A neonatal/infantile epilepsy syndrome that is characterized by the onset of myoclonic seizures between the ages of 6-18 months (range 4 months to 3 years). Males are twice as likely to be affected as females. Antecedent and birth history is unremarkable. Head size and neurological examination are normal. Prior development is usually normal. Cognitive, motor and behavioral difficulties are reported, especially if seizures are poorly controlled. Developmental outcome is normal in 60-85% of cases. Mild intellectual impairment and attention problems can be seen. | MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS07244,BMG_DS027888,"NCI: A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills. | MONDO: Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. | MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS07245,BMG_DS027889,"MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS07246,BMG_DS027890,"MeSH: A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)"
+BMGC_DS07247,BMG_DS027892,"MeSH: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation."
+BMGC_DS07248,BMG_DS027893,"MeSH: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation."
+BMGC_DS07249,BMG_DS027894,"MeSH: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation."
+BMGC_DS07250,BMG_DS027896,"MeSH: A common nonarticular rheumatic syndrome characterized by myalgia and multiple points of focal muscle tenderness to palpation (trigger points). Muscle pain is typically aggravated by inactivity or exposure to cold. This condition is often associated with general symptoms, such as sleep disturbances, fatigue, stiffness, HEADACHES, and occasionally DEPRESSION. There is significant overlap between fibromyalgia and the chronic fatigue syndrome (FATIGUE SYNDROME, CHRONIC). Fibromyalgia may arise as a primary or secondary disease process. It is most frequent in females aged 20 to 50 years. (From Adams et al., Principles of Neurology, 6th ed, p1494-95)"
+BMGC_DS07251,BMG_DS027897,"MeSH: A common nonarticular rheumatic syndrome characterized by myalgia and multiple points of focal muscle tenderness to palpation (trigger points). Muscle pain is typically aggravated by inactivity or exposure to cold. This condition is often associated with general symptoms, such as sleep disturbances, fatigue, stiffness, HEADACHES, and occasionally DEPRESSION. There is significant overlap between fibromyalgia and the chronic fatigue syndrome (FATIGUE SYNDROME, CHRONIC). Fibromyalgia may arise as a primary or secondary disease process. It is most frequent in females aged 20 to 50 years. (From Adams et al., Principles of Neurology, 6th ed, p1494-95)"
+BMGC_DS07252,BMG_DS027898,"MeSH: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)"
+BMGC_DS07253,BMG_DS027899,"MONDO: A nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR. | MeSH: A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)"
+BMGC_DS07254,BMG_DS027900,"ORPHANET: A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. | MONDO: Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism."
+BMGC_DS07255,BMG_DS027902,"MeSH: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)"
+BMGC_DS07256,BMG_DS027903,"MeSH: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)"
+BMGC_DS07257,BMG_DS027904,"MeSH: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)"
+BMGC_DS07258,BMG_DS027905,NCI: Headache triggered by coughing or straining in the absence of an intracranial disorder. | MeSH: Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes.
+BMGC_DS07259,BMG_DS027906,"MeSH: A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)"
+BMGC_DS07260,BMG_DS027907,"MeSH: A syndrome characterized by central nervous system dysfunction in association with LIVER FAILURE, including portal-systemic shunts. Clinical features include lethargy and CONFUSION (frequently progressing to COMA); ASTERIXIS; NYSTAGMUS, PATHOLOGIC; brisk oculovestibular reflexes; decorticate and decerebrate posturing; MUSCLE SPASTICITY; and bilateral extensor plantar reflexes (see REFLEX, BABINSKI). ELECTROENCEPHALOGRAPHY may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5)"
+BMGC_DS07261,BMG_DS027908,"ORPHANET: A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS). | MONDO: Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system. | MeSH: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)"
+BMGC_DS07262,BMG_DS027913,"MeSH: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)"
+BMGC_DS07263,BMG_DS027914,"NCI: An early-onset form of Huntington disease (before age 20) caused by trinucleotide repeat expansion in the HTT gene, encoding huntingtin. | MONDO: Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age. | MeSH: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)"
+BMGC_DS07264,BMG_DS027915,MeSH: A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME.
+BMGC_DS07265,BMG_DS027919,"HPO: Recurrent episodes of severe hypersomnia are accompanied by cognitive and behavioral disturbances, including confusion, derealization, apathy, compulsive eating, and hypersexuality. [PMID:36865656] | MONDO: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320) | MeSH: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., IDIOPATHIC HYPERSOMNOLENCE; NARCOLEPSY; and KLEINE-LEVIN SYNDROME) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, MENTAL DISORDERS, and SLEEP APNEA SYNDROME). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)"
+BMGC_DS07266,BMG_DS027920,"MeSH: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., IDIOPATHIC HYPERSOMNOLENCE; NARCOLEPSY; and KLEINE-LEVIN SYNDROME) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, MENTAL DISORDERS, and SLEEP APNEA SYNDROME). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)"
+BMGC_DS07267,BMG_DS027921,"MeSH: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., IDIOPATHIC HYPERSOMNOLENCE; NARCOLEPSY; and KLEINE-LEVIN SYNDROME) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, MENTAL DISORDERS, and SLEEP APNEA SYNDROME). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)"
+BMGC_DS07268,BMG_DS027922,"MONDO: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction. | MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS07269,BMG_DS027923,"MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS07270,BMG_DS027924,"MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS07271,BMG_DS027925,"MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS07272,BMG_DS027926,"MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS07273,BMG_DS027927,"MeSH: Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; AUTONOMIC NERVOUS SYSTEM DISEASES; SLEEP DISORDERS; behavioral symptoms related to dysfunction of the LIMBIC SYSTEM; and neuroendocrine disorders."
+BMGC_DS07274,BMG_DS027928,NCI: Insomnia that has persisted at least one month. | MeSH: Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.
+BMGC_DS07275,BMG_DS027929,MeSH: Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.
+BMGC_DS07276,BMG_DS027930,MeSH: Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.
+BMGC_DS07277,BMG_DS027931,"SNOMEDCT_US: Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterised by typical CJD features (rapidly progressive dementia, personality/behavioural changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. | MONDO: Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. | MeSH: A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))"
+BMGC_DS07278,BMG_DS027933,"NCI: A disorder characterized by impairment of the auditory processing, resulting in deficiencies in the recognition and interpretation of sounds by the brain. Causes include brain maturation delays and brain traumas or tumors. | MONDO: Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech. | MeSH: Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors."
+BMGC_DS07279,BMG_DS027934,MONDO: A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect.
+BMGC_DS07280,BMG_DS027935,"MeSH: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850)."
+BMGC_DS07281,BMG_DS027936,"MeSH: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850)."
+BMGC_DS07282,BMG_DS027937,"MeSH: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses."
+BMGC_DS07283,BMG_DS027938,"ORPHANET: A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an onset between 30 months and 16 years of age, often beginning with behavioral abnormalities or deterioration of school performance. Further manifestations are ataxia, gait disturbances, reduced deep tendon reflexes, spasticity, seizures, paralysis, dementia, and loss of speech, vision, and hearing, eventually resulting in complete loss of motor and cognitive skills, and decerebration. The rate of deterioration is variable with possible survival up to the third decade of life. | MONDO: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes."
+BMGC_DS07284,BMG_DS027939,"ORPHANET: A subtype of Metachromatic leukodystrophy characterized by rapidly progressive psychomotor regression with an onset before 30 months of age after a period of apparently normal development. Manifestations developing during the course of the disease are impaired feeding and swallowing due to pseudobulbar palsies, seizures, painful spasms, muscle weakness, ataxia, paralysis, dementia, and loss of speech, vision, and hearing, quickly resulting in complete loss of motor and cognitive skills, and decerebration. Death occurs within the first decade of life. | MeSH: An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms."
+BMGC_DS07285,BMG_DS027940,"ORPHANET: A subtype of Metachromatic leukodystrophy characterized by progressive psychomotor regression with an insidious onset after the age of 16 years, most often beginning with intellectual and behavioral changes, such as memory deficits or emotional instability. The clinical picture is dominated by gradual cognitive, later also motor, decline, taking a protracted course with periods of waxing and waning. Decerebration and death occur within decades after disease onset. | MeSH: An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms."
+BMGC_DS07286,BMG_DS027942,"ORPHANET: Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine. | MONDO: Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine. | MeSH: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)"
+BMGC_DS07287,BMG_DS027943,"NCI: A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. | MONDO: A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache."
+BMGC_DS07288,BMG_DS027944,NCI: A meningioma that affects the cerebral sulcus. | MONDO: A meningioma that affects the cerebral sulcus.
+BMGC_DS07289,BMG_DS027945,NCI: A meningioma that affects the superior sagittal sinus and invades the parasagittal angle. | MONDO: A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.
+BMGC_DS07290,BMG_DS027946,"MeSH: Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults."
+BMGC_DS07291,BMG_DS027947,"MeSH: Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults."
+BMGC_DS07292,BMG_DS027948,"MeSH: An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)"
+BMGC_DS07293,BMG_DS027949,
+BMGC_DS07294,BMG_DS027950,"MeSH: A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults."
+BMGC_DS07295,BMG_DS027951,"MeSH: A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults."
+BMGC_DS07296,BMG_DS027952,"MeSH: An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)"
+BMGC_DS07297,BMG_DS027953,"MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS07298,BMG_DS027954,"ORPHANET: A rare, genetic motor neuron disease characterized by predominantly motor axonal peripheral neuropathy manifesting with progressive scapuloperoneal muscular atrophy and weakness, laryngeal palsy, congenital absence of muscles, and, in some, skeletal abnormalities. | MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS07299,BMG_DS027955,"MONDO: Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. | MeSH: A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive."
+BMGC_DS07300,BMG_DS027956,MONDO: X-linked form of Emery-Dreifuss muscular dystrophy. | MeSH: Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome.
+BMGC_DS07301,BMG_DS027957,"MeSH: A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition."
+BMGC_DS07302,BMG_DS027958,"MeSH: A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition."
+BMGC_DS07303,BMG_DS027960,"MeSH: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)"
+BMGC_DS07304,BMG_DS027961,"MeSH: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)"
+BMGC_DS07305,BMG_DS027962,"MeSH: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)"
+BMGC_DS07306,BMG_DS027963,"MeSH: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)"
+BMGC_DS07307,BMG_DS027964,"MeSH: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence. (Adams et al., Principles of Neurology, 6th ed, pp1242-6)"
+BMGC_DS07308,BMG_DS027965,"HPO: Marked, involuntary jerking of the eyelids. [] | MeSH: Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3)."
+BMGC_DS07309,BMG_DS027966,NCI: An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. | MONDO: Idiopathic form of inflammatory myopathy. | MeSH: Inflammation of a muscle or muscle tissue.
+BMGC_DS07310,BMG_DS027967,ORPHANET: A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities. | MeSH: Inflammation of a muscle or muscle tissue.
+BMGC_DS07311,BMG_DS027968,"MONDO: Autosomal recessive form of myotonia congenita. | MONDO: A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). | MeSH: Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders."
+BMGC_DS07312,BMG_DS027969,"NCI: Evidence of narcolepsy with cataplexy. | MONDO: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). | MeSH: A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)"
+BMGC_DS07313,BMG_DS027970,MeSH: Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
+BMGC_DS07314,BMG_DS027971,MeSH: Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
+BMGC_DS07315,BMG_DS027972,"MeSH: A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)"
+BMGC_DS07316,BMG_DS027973,"ORPHANET: A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed. | MeSH: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA."
+BMGC_DS07317,BMG_DS027974,"MONDO: A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. | MeSH: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure. | MeSH: This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin)."
+BMGC_DS07318,BMG_DS027975,"NCI: A well-differentiated (WHO grade 2), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)"
+BMGC_DS07319,BMG_DS027979,"MeSH: Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect."
+BMGC_DS07320,BMG_DS027980,"MeSH: Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis."
+BMGC_DS07321,BMG_DS027982,"MeSH: Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)"
+BMGC_DS07322,BMG_DS027983,"MeSH: Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)"
+BMGC_DS07323,BMG_DS027984,"MONDO: An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. | MeSH: Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES."
+BMGC_DS07324,BMG_DS027987,"NCI: A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria. | MONDO: Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications."
+BMGC_DS07325,BMG_DS027988,"MeSH: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952)."
+BMGC_DS07326,BMG_DS027989,"ORPHANET: A disorder of pterin metabolism characterized by tetrahydropterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin deficiency, characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. | MONDO: Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. | MeSH: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952)."
+BMGC_DS07327,BMG_DS027990,MONDO: A disease that involves the adenohypophysis. | MeSH: Disorders involving either the ADENOHYPOPHYSIS or the NEUROHYPOPHYSIS. These diseases usually manifest as hypersecretion or hyposecretion of PITUITARY HORMONES. Neoplastic pituitary masses can also cause compression of the OPTIC CHIASM and other adjacent structures.
+BMGC_DS07328,BMG_DS027994,"MeSH: An acute infectious disease of humans, particularly children, caused by any of three serotypes of human poliovirus (POLIOVIRUS). Usually the infection is limited to the gastrointestinal tract and nasopharynx, and is often asymptomatic. The central nervous system, primarily the spinal cord, may be affected, leading to rapidly progressive paralysis, coarse FASCICULATION and hyporeflexia. Motor neurons are primarily affected. Encephalitis may also occur. The virus replicates in the nervous system, and may cause significant neuronal loss, most notably in the spinal cord. A rare related condition, nonpoliovirus poliomyelitis, may result from infections with nonpoliovirus enteroviruses. (From Adams et al., Principles of Neurology, 6th ed, pp764-5)"
+BMGC_DS07329,BMG_DS027995,"MeSH: An acute infectious disease of humans, particularly children, caused by any of three serotypes of human poliovirus (POLIOVIRUS). Usually the infection is limited to the gastrointestinal tract and nasopharynx, and is often asymptomatic. The central nervous system, primarily the spinal cord, may be affected, leading to rapidly progressive paralysis, coarse FASCICULATION and hyporeflexia. Motor neurons are primarily affected. Encephalitis may also occur. The virus replicates in the nervous system, and may cause significant neuronal loss, most notably in the spinal cord. A rare related condition, nonpoliovirus poliomyelitis, may result from infections with nonpoliovirus enteroviruses. (From Adams et al., Principles of Neurology, 6th ed, pp764-5)"
+BMGC_DS07330,BMG_DS027996,"MeSH: An acute infectious disease of humans, particularly children, caused by any of three serotypes of human poliovirus (POLIOVIRUS). Usually the infection is limited to the gastrointestinal tract and nasopharynx, and is often asymptomatic. The central nervous system, primarily the spinal cord, may be affected, leading to rapidly progressive paralysis, coarse FASCICULATION and hyporeflexia. Motor neurons are primarily affected. Encephalitis may also occur. The virus replicates in the nervous system, and may cause significant neuronal loss, most notably in the spinal cord. A rare related condition, nonpoliovirus poliomyelitis, may result from infections with nonpoliovirus enteroviruses. (From Adams et al., Principles of Neurology, 6th ed, pp764-5)"
+BMGC_DS07331,BMG_DS027997,"MeSH: Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance."
+BMGC_DS07332,BMG_DS027998,"MeSH: Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance."
+BMGC_DS07333,BMG_DS028000,MeSH: Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
+BMGC_DS07334,BMG_DS028001,MeSH: Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
+BMGC_DS07335,BMG_DS028002,"MeSH: Disease involving a spinal nerve root (see SPINAL NERVE ROOTS) which may result from compression related to INTERVERTEBRAL DISK DISPLACEMENT; SPINAL CORD INJURIES; SPINAL DISEASES; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root."
+BMGC_DS07336,BMG_DS028003,"MONDO: An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma."
+BMGC_DS07337,BMG_DS028004,"MeSH: A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism."
+BMGC_DS07338,BMG_DS028005,"MeSH: A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism."
+BMGC_DS07339,BMG_DS028006,"MONDO: A Sandhoff disease that occurs in an adult. | MeSH: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE."
+BMGC_DS07340,BMG_DS028007,"MeSH: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE."
+BMGC_DS07341,BMG_DS028008,"MeSH: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE."
+BMGC_DS07342,BMG_DS028009,"MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS07343,BMG_DS028010,"MeSH: Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM)."
+BMGC_DS07344,BMG_DS028011,"MeSH: Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects."
+BMGC_DS07345,BMG_DS028012,"MeSH: Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects."
+BMGC_DS07346,BMG_DS028013,"MeSH: Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects."
+BMGC_DS07347,BMG_DS028014,"MeSH: The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder."
+BMGC_DS07348,BMG_DS028015,"MeSH: The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder."
+BMGC_DS07349,BMG_DS028016,"MONDO: OBSOLETE. A rare form of sleep disorder. | MeSH: Abnormal sleep-wake schedule or pattern associated with the CIRCADIAN RHYTHM which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle."
+BMGC_DS07350,BMG_DS028017,MeSH: Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language.
+BMGC_DS07351,BMG_DS028018,"MeSH: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)"
+BMGC_DS07352,BMG_DS028019,"NCI: Status epilepticus without prominent motor symptoms, the duration of which is at least ten minutes. | MeSH: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)"
+BMGC_DS07353,BMG_DS028020,"MeSH: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)"
+BMGC_DS07354,BMG_DS028021,"MeSH: Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)"
+BMGC_DS07355,BMG_DS028022,"MeSH: Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)"
+BMGC_DS07356,BMG_DS028023,
+BMGC_DS07357,BMG_DS028024,
+BMGC_DS07358,BMG_DS028025,
+BMGC_DS07359,BMG_DS028029,"MeSH: A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)"
+BMGC_DS07360,BMG_DS028030,"MeSH: A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)"
+BMGC_DS07361,BMG_DS028031,"MeSH: A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)"
+BMGC_DS07362,BMG_DS028034,"MeSH: An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD."
+BMGC_DS07363,BMG_DS028035,"MeSH: A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)"
+BMGC_DS07364,BMG_DS028036,"SNOMEDCT_US: An extremely uncommon form of vasculitis. Eleven documented cases have been reported in the literature, affecting older children and young adults. In contrast to the classic form of temporal arteritis, it is not a systemic disease nor does it cause local symptoms at the temporal area.The term juvenile temporal arteritis was coined by Lie and his colleagues, in 1975, when they reported four cases of an otherwise asymptomatic disease presenting with a painless nodule at the temporal region. None of the cases showed evidence of systemic disease or history of trauma to the temporal region. Excisional biopsy of the lesions revealed a non-giant cell granulomatous inflammation of the temporal arteries with eosinophilic infiltration, intimal proliferation and micro aneurysmal disruption of the media. The disease has a benign clinical course, is treated by surgical excision and does not recur. | MONDO: Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs. | MeSH: A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)"
+BMGC_DS07365,BMG_DS028040,"MONDO: A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites."
+BMGC_DS07366,BMG_DS028041,"MeSH: Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)"
+BMGC_DS07367,BMG_DS028042,"MeSH: Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)"
+BMGC_DS07368,BMG_DS028043,"HPO: Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. [PMID:23885280] | MeSH: A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions."
+BMGC_DS07369,BMG_DS028044,NCI: A primary or metastatic malignant neoplasm that affects the tonsil. | MONDO: A primary or metastatic malignant neoplasm that affects the tonsil.
+BMGC_DS07370,BMG_DS028047,"HPO: Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. [PMID:24765483] | MeSH: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated."
+BMGC_DS07371,BMG_DS028051,"ORPHANET: An acute arboviral infection caused by a virus of the &lt;i&gt;Flaviviridae&lt;/i&gt; family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. | MONDO: An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. | MeSH: A mosquito-borne viral illness caused by the WEST NILE VIRUS, a FLAVIVIRUS and endemic to regions of Africa, Asia, and Europe. Common clinical features include HEADACHE; FEVER; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. MENINGITIS; ENCEPHALITIS; and MYELITIS may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)"
+BMGC_DS07372,BMG_DS028052,"MeSH: A mosquito-borne viral illness caused by the WEST NILE VIRUS, a FLAVIVIRUS and endemic to regions of Africa, Asia, and Europe. Common clinical features include HEADACHE; FEVER; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. MENINGITIS; ENCEPHALITIS; and MYELITIS may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)"
+BMGC_DS07373,BMG_DS028053,"MeSH: A mosquito-borne viral illness caused by the WEST NILE VIRUS, a FLAVIVIRUS and endemic to regions of Africa, Asia, and Europe. Common clinical features include HEADACHE; FEVER; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. MENINGITIS; ENCEPHALITIS; and MYELITIS may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)"
+BMGC_DS07374,BMG_DS028054,"MeSH: A mosquito-borne viral illness caused by the WEST NILE VIRUS, a FLAVIVIRUS and endemic to regions of Africa, Asia, and Europe. Common clinical features include HEADACHE; FEVER; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. MENINGITIS; ENCEPHALITIS; and MYELITIS may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)"
+BMGC_DS07375,BMG_DS028055,
+BMGC_DS07376,BMG_DS028056,"NCI: A malignant neoplasm that affects the various anatomic sites of the supratentorial brain. | MONDO: Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation."
+BMGC_DS07377,BMG_DS028057,NCI: Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces. | MONDO: Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.
+BMGC_DS07378,BMG_DS028058,MeSH: An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
+BMGC_DS07379,BMG_DS028059,"MeSH: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE."
+BMGC_DS07380,BMG_DS028060,"MeSH: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE."
+BMGC_DS07381,BMG_DS028061,"MeSH: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE."
+BMGC_DS07382,BMG_DS028062,"MeSH: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)"
+BMGC_DS07383,BMG_DS028063,"MeSH: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)"
+BMGC_DS07384,BMG_DS028064,"MeSH: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)"
+BMGC_DS07385,BMG_DS028065,"MeSH: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)"
+BMGC_DS07386,BMG_DS028066,MONDO: An acute lymphoblastic leukemia occurring during adulthood.
+BMGC_DS07387,BMG_DS028068,"MeSH: A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include EOSINOPHILIA, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn WD, Semin Arthritis Rheum 1997 Jun;26(6):788-93)"
+BMGC_DS07388,BMG_DS028070,"MeSH: Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)"
+BMGC_DS07389,BMG_DS028071,"MeSH: Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)"
+BMGC_DS07390,BMG_DS028072,"MeSH: Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)"
+BMGC_DS07391,BMG_DS028073,"MeSH: Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)"
+BMGC_DS07392,BMG_DS028074,"MeSH: Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)"
+BMGC_DS07393,BMG_DS028075,"MeSH: Meningeal inflammation produced by CRYPTOCOCCUS NEOFORMANS, an encapsulated yeast that tends to infect individuals with ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature HEADACHE; NAUSEA; PHOTOPHOBIA; focal neurologic deficits; SEIZURES; cranial neuropathies; and HYDROCEPHALUS. (From Adams et al., Principles of Neurology, 6th ed, pp721-2)"
+BMGC_DS07394,BMG_DS028077,"MeSH: A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)"
+BMGC_DS07395,BMG_DS028078,"MeSH: A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)"
+BMGC_DS07396,BMG_DS028079,MeSH: A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE.
+BMGC_DS07397,BMG_DS028080,MeSH: A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE.
+BMGC_DS07398,BMG_DS028081,"MeSH: A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)"
+BMGC_DS07399,BMG_DS028082,MeSH: A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move.
+BMGC_DS07400,BMG_DS028083,"MeSH: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
+BMGC_DS07401,BMG_DS028088,"MeSH: Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)"
+BMGC_DS07402,BMG_DS028089,"MeSH: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)"
+BMGC_DS07403,BMG_DS028090,"MeSH: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)"
+BMGC_DS07404,BMG_DS028091,"MeSH: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)"
+BMGC_DS07405,BMG_DS028092,"MeSH: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)"
+BMGC_DS07406,BMG_DS028093,"ORPHANET: Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development. | MeSH: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)"
+BMGC_DS07407,BMG_DS028094,"ORPHANET: Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs. | MONDO: Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs. | MeSH: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)"
+BMGC_DS07408,BMG_DS028095,"ORPHANET: Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. | MONDO: Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. | MeSH: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)"
+BMGC_DS07409,BMG_DS028096,"ORPHANET: Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. | MONDO: Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. | MeSH: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)"
+BMGC_DS07410,BMG_DS028097,"MeSH: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)"
+BMGC_DS07411,BMG_DS028098,"MONDO: A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites."
+BMGC_DS07412,BMG_DS028099,"NCI: A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres. | MONDO: A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres."
+BMGC_DS07413,BMG_DS028100,
+BMGC_DS07414,BMG_DS028101,
+BMGC_DS07415,BMG_DS028102,MONDO: Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. | MeSH: A malignant neurilemmoma with nerve sheath differentiation. It is often associated with NEUROFIBROMATOSIS 1 and RHABDOMYOSARCOMA.
+BMGC_DS07416,BMG_DS028103,"NCI: A rare benign tumor composed entirely of neoplastic perineurial cells. It may occur in the soft tissues, intraneurally or in mucosal sites. | MONDO: A usually benign perineurioma not associated with a nerve, arising from the soft tissues."
+BMGC_DS07417,BMG_DS028104,"MeSH: A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)."
+BMGC_DS07418,BMG_DS028105,"MeSH: A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)."
+BMGC_DS07419,BMG_DS028112,"MeSH: A common primary headache disorder, characterized by a dull, non-pulsatile, diffuse, band-like (or vice-like) PAIN of mild to moderate intensity in the HEAD; SCALP; or NECK. The subtypes are classified by frequency and severity of symptoms. There is no clear cause even though it has been associated with MUSCLE CONTRACTION and stress. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS07420,BMG_DS028113,"MONDO: Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. | MeSH: A form of frontotemporal lobar degeneration and a progressive form of dementia characterized by motor speech impairment and AGRAMMATISM, with relative sparing of single word comprehension and semantic memory."
+BMGC_DS07421,BMG_DS028114,"MeSH: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders."
+BMGC_DS07422,BMG_DS028115,"MeSH: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders."
+BMGC_DS07423,BMG_DS028116,"MeSH: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders."
+BMGC_DS07424,BMG_DS028117,"MONDO: Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disk is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. | MeSH: Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)"
+BMGC_DS07425,BMG_DS028118,"MeSH: Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)"
+BMGC_DS07426,BMG_DS028119,"MeSH: Progressive myopathies characterized by the presence of inclusion bodies on muscle biopsy. Sporadic and hereditary forms have been described. The sporadic form is an acquired, adult-onset inflammatory vacuolar myopathy affecting proximal and distal muscles. Familial forms usually begin in childhood and lack inflammatory changes. Both forms feature intracytoplasmic and intranuclear inclusions in muscle tissue. (Adams et al., Principles of Neurology, 6th ed, pp1409-10)"
+BMGC_DS07427,BMG_DS028120,"MeSH: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"
+BMGC_DS07428,BMG_DS028121,"MeSH: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"
+BMGC_DS07429,BMG_DS028122,"MeSH: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)"
+BMGC_DS07430,BMG_DS028126,"MeSH: Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)"
+BMGC_DS07431,BMG_DS028127,"MeSH: Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)"
+BMGC_DS07432,BMG_DS028130,MeSH: Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
+BMGC_DS07433,BMG_DS028132,"MONDO: A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis). | MeSH: A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA), such as INFARCTION; HEMORRHAGE; or ISCHEMIA in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (DYSKINESIAS) and muscle weakness (HEMIPARESIS)."
+BMGC_DS07434,BMG_DS028133,"MeSH: A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA), such as INFARCTION; HEMORRHAGE; or ISCHEMIA in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (DYSKINESIAS) and muscle weakness (HEMIPARESIS)."
+BMGC_DS07435,BMG_DS028134,"MeSH: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function."
+BMGC_DS07436,BMG_DS028135,"MeSH: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function. | MeSH: Brain dysfunction or damage caused by acquired (i.e., non-inborn) metabolic disorders. Associated conditions include ENDOCRINE DISEASES; WATER-ELECTROLYTE IMBALANCE; KIDNEY DISEASES; LIVER DISEASES; anoxia (HYPOXIA, BRAIN); nutritional disorders (see NUTRITIONAL AND METABOLIC DISEASES); an encephalopathy associated with HEMODIALYSIS; and other disorders. (From Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, pp208-260)"
+BMGC_DS07437,BMG_DS028137,MeSH: An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
+BMGC_DS07438,BMG_DS028138,"MONDO: Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. | MeSH: An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system."
+BMGC_DS07439,BMG_DS028139,"MeSH: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)"
+BMGC_DS07440,BMG_DS028140,"MeSH: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)"
+BMGC_DS07441,BMG_DS028141,"MeSH: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)"
+BMGC_DS07442,BMG_DS028143,"MONDO: A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal. | MeSH: Dyssomnias associated with disruption of the normal 24 hour sleep wake cycle secondary to travel (e.g., JET LAG SYNDROME), shift work, or other causes."
+BMGC_DS07443,BMG_DS028145,"MeSH: A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)"
+BMGC_DS07444,BMG_DS028146,"MeSH: A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration."
+BMGC_DS07445,BMG_DS028147,"MeSH: A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration."
+BMGC_DS07446,BMG_DS028151,"MONDO: A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)"
+BMGC_DS07447,BMG_DS028152,"MONDO: Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387) | MeSH: Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)"
+BMGC_DS07448,BMG_DS028153,"MeSH: A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME."
+BMGC_DS07449,BMG_DS028154,"MeSH: A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME."
+BMGC_DS07450,BMG_DS028155,"MONDO: A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. | MeSH: A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME."
+BMGC_DS07451,BMG_DS028156,"SNOMEDCT_US: Syndrome with characteristics of episodes of myoclonus. Renal disease is an inconsistent feature occuring in some but not all cases. Myoclonic jerks typically occur in the torso, upper and lower limbs and face. Some affected individuals develop seizures, peripheral neuropathy or sensorineural hearing loss. Where renal problems occur, an early sign is proteinuria. Age of onset and the clinical course may vary even among members of the same family. The syndrome is caused by mutations in the SCARB2 gene leading to production of an altered LIMP-2 protein that cannot get to the lysosome. As a result, the movement of beta-glucocerebrosidase to lysosomes is impaired. Inherited in an autosomal recessive pattern. | MONDO: Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. | MeSH: A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME."
+BMGC_DS07452,BMG_DS028157,"MeSH: A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME."
+BMGC_DS07453,BMG_DS028158,"NCI: A rare, autosomal dominant inherited progressive neurodegenerative disorder. It is caused by a mutation in the ATN1 gene, resulting in a combined degeneration of the dentatorubral and pallidoluysian systems. It can appear at any age, but it usually affects individuals between 20 and 30 years and leads to death within 10-15 years. The clinical presentation depends on the age of the affected individual; juvenile patients develop severe progressive myoclonus epilepsy and cognitive decline, whereas adult patients develop ataxia, choreoathetosis and dementia. | MONDO: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. | MeSH: A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME."
+BMGC_DS07454,BMG_DS028159,"MeSH: A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME."
+BMGC_DS07455,BMG_DS028160,"MONDO: Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. | MeSH: A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)."
+BMGC_DS07456,BMG_DS028161,"MeSH: A form of stimulus sensitive MYOCLONIC EPILEPSY inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)."
+BMGC_DS07457,BMG_DS028162,"MONDO: Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. | MeSH: An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, DYSARTHRIA, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)"
+BMGC_DS07458,BMG_DS028163,"MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS07459,BMG_DS028164,"MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS07460,BMG_DS028165,"MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS07461,BMG_DS028166,"MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS07462,BMG_DS028167,"MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS07463,BMG_DS028168,"SNOMEDCT_US: A rare neurologic disease with characteristics of seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (for example musicogenic seizures, seizures triggered by the voice). | MONDO: Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice). | MeSH: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)"
+BMGC_DS07464,BMG_DS028169,"MeSH: Prolonged unconsciousness from which the individual cannot be aroused, associated with traumatic injuries to the BRAIN. This may be defined as unconsciousness persisting for 6 hours or longer. Coma results from injury to both cerebral hemispheres or the RETICULAR FORMATION of the BRAIN STEM. Contributing mechanisms include DIFFUSE AXONAL INJURY and BRAIN EDEMA. (From J Neurotrauma 1997 Oct;14(10):699-713)"
+BMGC_DS07465,BMG_DS028170,"MeSH: The splitting of the vessel wall in one or both (left and right) internal carotid arteries (CAROTID ARTERY, INTERNAL). Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation."
+BMGC_DS07466,BMG_DS028173,"MeSH: Formation or presence of a blood clot (THROMBUS) in the SUPERIOR SAGITTAL SINUS or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, CRANIOCEREBRAL TRAUMA; and NEUROSURGICAL PROCEDURES. Clinical features are primarily related to the increased intracranial pressure causing HEADACHE; NAUSEA; and VOMITING. Severe cases can evolve to SEIZURES or COMA."
+BMGC_DS07467,BMG_DS028174,"MeSH: Formation or presence of a blood clot (THROMBUS) in the SUPERIOR SAGITTAL SINUS or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, CRANIOCEREBRAL TRAUMA; and NEUROSURGICAL PROCEDURES. Clinical features are primarily related to the increased intracranial pressure causing HEADACHE; NAUSEA; and VOMITING. Severe cases can evolve to SEIZURES or COMA."
+BMGC_DS07468,BMG_DS028175,"MeSH: Formation or presence of a blood clot (THROMBUS) in the CAVERNOUS SINUS of the brain. Infections of the paranasal sinuses and adjacent structures, CRANIOCEREBRAL TRAUMA, and THROMBOPHILIA are associated conditions. Clinical manifestations include dysfunction of cranial nerves III, IV, V, and VI, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)"
+BMGC_DS07469,BMG_DS028178,"MeSH: Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES."
+BMGC_DS07470,BMG_DS028179,"MeSH: Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES."
+BMGC_DS07471,BMG_DS028183,"MONDO: Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body. | MeSH: NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body."
+BMGC_DS07472,BMG_DS028185,"MeSH: NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."
+BMGC_DS07473,BMG_DS028186,"MeSH: NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."
+BMGC_DS07474,BMG_DS028187,"MeSH: NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."
+BMGC_DS07475,BMG_DS028188,"MeSH: NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."
+BMGC_DS07476,BMG_DS028189,"MeSH: NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction."
+BMGC_DS07477,BMG_DS028190,"MeSH: Disorders associated with acute or chronic exposure to compounds containing ARSENIC (ARSENICALS) which may be fatal. Acute oral ingestion is associated with gastrointestinal symptoms and an encephalopathy which may manifest as SEIZURES, mental status changes, and COMA. Chronic exposure is associated with mucosal irritation, desquamating rash, myalgias, peripheral neuropathy, and white transverse (Mees) lines in the fingernails. (Adams et al., Principles of Neurology, 6th ed, p1212)"
+BMGC_DS07478,BMG_DS028191,"MeSH: Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)"
+BMGC_DS07479,BMG_DS028192,"MeSH: Neurologic disorders occurring in children following lead exposure. The most frequent manifestation of childhood lead toxicity is an encephalopathy associated with chronic ingestion of lead that usually presents between the ages of 1 and 3 years. Clinical manifestations include behavioral changes followed by lethargy; CONVULSIONS; HALLUCINATIONS; DELIRIUM; ATAXIA; and vomiting. Elevated intracranial pressure (HYPERTENSION, INTRACRANIAL) and CEREBRAL EDEMA may occur. (From Adams et al., Principles of Neurology, 6th ed, p1210-2)"
+BMGC_DS07480,BMG_DS028193,"MeSH: Neurologic conditions in adults associated with acute or chronic exposure to lead or any of its salts. The most common lead related neurologic syndrome in adults consists of a polyneuropathy involving motor fibers. This tends to affect distal nerves and may present as wrist drop due to RADIAL NEUROPATHY. Additional features of chronic lead exposure include ANEMIA; CONSTIPATION; colicky abdominal pain; a bluish lead line of the gums; interstitial nephritis (NEPHRITIS, INTERSTITIAL); and saturnine gout. An encephalopathy may rarely occur. (From Adams et al., Principles of Neurology, 6th ed, p1212)"
+BMGC_DS07481,BMG_DS028194,"MeSH: A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)"
+BMGC_DS07482,BMG_DS028195,MeSH: Acute and chronic neurologic disorders associated with the various neurologic effects of ETHANOL. Primary sites of injury include the brain and peripheral nerves.
+BMGC_DS07483,BMG_DS028197,"MeSH: A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174)"
+BMGC_DS07484,BMG_DS028198,"MeSH: A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174)"
+BMGC_DS07485,BMG_DS028199,MeSH: Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems.
+BMGC_DS07486,BMG_DS028200,"MONDO: A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. | MeSH: Disorders caused by cellular or humoral immune responses primarily directed towards nervous system autoantigens. The immune response may be directed towards specific tissue components (e.g., myelin) and may be limited to the central nervous system (e.g., MULTIPLE SCLEROSIS) or the peripheral nervous system (e.g., GUILLAIN-BARRE SYNDROME)."
+BMGC_DS07487,BMG_DS028201,"MeSH: Disorders caused by cellular or humoral immune responses primarily directed towards nervous system autoantigens. The immune response may be directed towards specific tissue components (e.g., myelin) and may be limited to the central nervous system (e.g., MULTIPLE SCLEROSIS) or the peripheral nervous system (e.g., GUILLAIN-BARRE SYNDROME)."
+BMGC_DS07488,BMG_DS028206,"MONDO: Vasculitis affecting the blood vessels of the brain and/or spinal cord. | MeSH: Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61)"
+BMGC_DS07489,BMG_DS028207,"MeSH: Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61)"
+BMGC_DS07490,BMG_DS028208,"MeSH: Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61)"
+BMGC_DS07491,BMG_DS028209,"MeSH: Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61)"
+BMGC_DS07492,BMG_DS028210,"MONDO: Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. | MeSH: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)"
+BMGC_DS07493,BMG_DS028211,"MeSH: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)"
+BMGC_DS07494,BMG_DS028212,"MeSH: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)"
+BMGC_DS07495,BMG_DS028213,"MeSH: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)"
+BMGC_DS07496,BMG_DS028214,NCI: A neoplasm that originates from the brain stem.
+BMGC_DS07497,BMG_DS028215,"MONDO: Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain). | MeSH: Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)."
+BMGC_DS07498,BMG_DS028216,"MeSH: A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS07499,BMG_DS028218,"MeSH: Idiopathic inflammation of the VESTIBULAR NERVE, characterized clinically by the acute or subacute onset of VERTIGO; NAUSEA; and imbalance. The COCHLEAR NERVE is typically spared and HEARING LOSS and TINNITUS do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)"
+BMGC_DS07500,BMG_DS028219,"MONDO: Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304) | MeSH: Idiopathic inflammation of the VESTIBULAR NERVE, characterized clinically by the acute or subacute onset of VERTIGO; NAUSEA; and imbalance. The COCHLEAR NERVE is typically spared and HEARING LOSS and TINNITUS do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)"
+BMGC_DS07501,BMG_DS028220,"MeSH: Idiopathic inflammation of the VESTIBULAR NERVE, characterized clinically by the acute or subacute onset of VERTIGO; NAUSEA; and imbalance. The COCHLEAR NERVE is typically spared and HEARING LOSS and TINNITUS do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)"
+BMGC_DS07502,BMG_DS028224,"MeSH: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)"
+BMGC_DS07503,BMG_DS028225,"MeSH: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)"
+BMGC_DS07504,BMG_DS028226,"ORPHANET: The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. | MONDO: The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. | MeSH: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)"
+BMGC_DS07505,BMG_DS028227,"ORPHANET: The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term). | MONDO: The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD. | MeSH: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)"
+BMGC_DS07506,BMG_DS028228,"MeSH: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)"
+BMGC_DS07507,BMG_DS028229,"MeSH: A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)"
+BMGC_DS07508,BMG_DS028230,"MeSH: Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME)."
+BMGC_DS07509,BMG_DS028231,"MONDO: Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome). | MeSH: Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME)."
+BMGC_DS07510,BMG_DS028232,"MeSH: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)"
+BMGC_DS07511,BMG_DS028233,"MeSH: Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)"
+BMGC_DS07512,BMG_DS028234,"MeSH: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"
+BMGC_DS07513,BMG_DS028235,"MeSH: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"
+BMGC_DS07514,BMG_DS028236,"MeSH: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"
+BMGC_DS07515,BMG_DS028237,"MeSH: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"
+BMGC_DS07516,BMG_DS028238,"MeSH: Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh."
+BMGC_DS07517,BMG_DS028239,"MONDO: Neuropathy of the femoral nerve. | MeSH: Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh."
+BMGC_DS07518,BMG_DS028240,"MONDO: Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) | MeSH: Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)"
+BMGC_DS07519,BMG_DS028245,MONDO: A disease involving the olfactory nerve.
+BMGC_DS07520,BMG_DS028246,"MeSH: Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS."
+BMGC_DS07521,BMG_DS028247,"MeSH: Diseases of the sixth cranial (abducens) nerve or its nucleus in the pons. The nerve may be injured along its course in the pons, intracranially as it travels along the base of the brain, in the cavernous sinus, or at the level of superior orbital fissure or orbit. Dysfunction of the nerve causes lateral rectus muscle weakness, resulting in horizontal diplopia that is maximal when the affected eye is abducted and ESOTROPIA. Common conditions associated with nerve injury include INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; ISCHEMIA; and INFRATENTORIAL NEOPLASMS."
+BMGC_DS07522,BMG_DS028249,"MONDO: Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) | MeSH: Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with SYNCOPE. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390)"
+BMGC_DS07523,BMG_DS028252,"MeSH: Diseases of the twelfth cranial (hypoglossal) nerve or nuclei. The nuclei and fascicles of the nerve are located in the medulla, and the nerve exits the skull via the hypoglossal foramen and innervates the muscles of the tongue. Lower brain stem diseases, including ischemia and MOTOR NEURON DISEASES may affect the nuclei or nerve fascicles. The nerve may also be injured by diseases of the posterior fossa or skull base. Clinical manifestations include unilateral weakness of tongue musculature and lingual dysarthria, with deviation of the tongue towards the side of weakness upon attempted protrusion."
+BMGC_DS07524,BMG_DS028253,"MeSH: Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191)"
+BMGC_DS07525,BMG_DS028254,"MeSH: Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191)"
+BMGC_DS07526,BMG_DS028255,"MONDO: Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. | MeSH: Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions."
+BMGC_DS07527,BMG_DS028256,"MeSH: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)"
+BMGC_DS07528,BMG_DS028257,"MeSH: Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis."
+BMGC_DS07529,BMG_DS028258,"MeSH: Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis."
+BMGC_DS07530,BMG_DS028259,"MeSH: Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis."
+BMGC_DS07531,BMG_DS028260,"MONDO: Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. | MeSH: Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis."
+BMGC_DS07532,BMG_DS028261,"NCI: The sudden or severe onset of neurological deficit(s) attributable to an acute focal vascular injury of the central nervous system. | MeSH: A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)"
+BMGC_DS07533,BMG_DS028262,"MeSH: A form of non-Hodgkin lymphoma having a usually diffuse pattern with both small and medium lymphocytes and small cleaved cells. It accounts for about 5% of adult non-Hodgkin lymphomas in the United States and Europe. The majority of mantle-cell lymphomas are associated with a t(11;14) translocation resulting in overexpression of the CYCLIN D1 gene (GENES, BCL-1)."
+BMGC_DS07534,BMG_DS028263,MeSH: Infarctions that occur in the BRAIN STEM which is comprised of the MIDBRAIN; PONS; and MEDULLA OBLONGATA. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.
+BMGC_DS07535,BMG_DS028264,"MONDO: A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. | MeSH: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)"
+BMGC_DS07536,BMG_DS028265,"MONDO: A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase. | MeSH: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)"
+BMGC_DS07537,BMG_DS028266,"MONDO: The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) | MeSH: The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)"
+BMGC_DS07538,BMG_DS028267,"MeSH: A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present."
+BMGC_DS07539,BMG_DS028268,"MeSH: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
+BMGC_DS07540,BMG_DS028269,"MeSH: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
+BMGC_DS07541,BMG_DS028270,"MeSH: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
+BMGC_DS07542,BMG_DS028271,"MeSH: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
+BMGC_DS07543,BMG_DS028272,"MeSH: A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA."
+BMGC_DS07544,BMG_DS028273,"MeSH: Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero."
+BMGC_DS07545,BMG_DS028274,"MeSH: Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero."
+BMGC_DS07546,BMG_DS028275,"MeSH: Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero."
+BMGC_DS07547,BMG_DS028276,"SNOMEDCT_US: Main features described as dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. The disease typically presents in the fourth decade. Ataxia gradually progresses and additional features may emerge including proprioceptive loss, hypoactive reflexes, ophthalmoparesis, and mild optic neuropathy. Initial presentation with blepharospasm, oromandibular dystonia, and retrocollis preceding ataxia has been reported. Caused by CAG repeat expansions in the ATXN1 gene region on chromosome 6p23. | MONDO: Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. | MeSH: A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)"
+BMGC_DS07548,BMG_DS028277,"SNOMEDCT_US: Main features described as truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. Presents in the third or fourth decade, Parkinsonism is also a less common but well-documented manifestation. There is no distinct clinical feature that reliably distinguishes type 1 from type 2 although tremor and autonomic dysfunction are more common in type 2. | MONDO: A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. | MeSH: A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)"
+BMGC_DS07549,BMG_DS028278,"SNOMEDCT_US: A very rare progressive and untreatable disease with manifestations of ataxia with sensory neuropathy. Prevalence is unknown, typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats. | MONDO: Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy. | MeSH: A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)"
+BMGC_DS07550,BMG_DS028279,"SNOMEDCT_US: Disease with characteristics of early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.Three families have been reported to date. Clinical manifestations include cerebellar signs (ataxia, dysarthria, and intention tremor) and eye movement abnormalities such as gaze-evoked nystagmus, down beat nystagmus, and impaired smooth pursuit. Occasionally defects of the visual field and horizontal gaze palsy can be also present. Non-cerebellar signs such as facial myokymia, resting tremor, writer's cramp, impaired vibration sense and brisk deep tendon reflexes have been reported in some patients. Caused by mutations in the SPTBN2 gene (11q13.2) encoding beta-III spectrin, a protein essential for the correct functioning and development of Purkinje cells. Inherited autosomal dominantly. | MONDO: Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. | MeSH: A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)"
+BMGC_DS07551,BMG_DS028280,"SNOMEDCT_US: Main features described as late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. The mean age of onset is 45 years but can range from the ages of 16 to 72 years. It usually presents with the cerebellar signs of ataxia and dysarthria as well as dysphagia. Some patients also have episodic vertigo and diplopia. Parkinsonism, dystonia, myoclonus, tremor and cognitive impairment have been reported in rare cases. | MONDO: Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus."
+BMGC_DS07552,BMG_DS028281,"SNOMEDCT_US: A neurodegenerative disorder with progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. Manifestations that present in infancy and early childhood include muscle weakness, wasting, hypotonia, poor feeding, failure to thrive and loss of motor milestones. Inherited autosomal dominantly. The prognosis depends on the age of symptom onset. An earlier onset is associated with a more severe and rapidly progressive disease. | MeSH: A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)"
+BMGC_DS07553,BMG_DS028282,"MeSH: Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia)."
+BMGC_DS07554,BMG_DS028283,"MeSH: Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia)."
+BMGC_DS07555,BMG_DS028284,"MONDO: Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue. | MeSH: Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue."
+BMGC_DS07556,BMG_DS028285,"MONDO: Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia). | MeSH: NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)."
+BMGC_DS07557,BMG_DS028286,"MeSH: NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)."
+BMGC_DS07558,BMG_DS028287,"MeSH: NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)."
+BMGC_DS07559,BMG_DS028288,"MeSH: Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes."
+BMGC_DS07560,BMG_DS028289,"MONDO: Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes. | MeSH: Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes."
+BMGC_DS07561,BMG_DS028290,MONDO: Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases. | MeSH: Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES.
+BMGC_DS07562,BMG_DS028291,MONDO: Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis. | MeSH: Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS.
+BMGC_DS07563,BMG_DS028292,MeSH: Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS.
+BMGC_DS07564,BMG_DS028294,"MeSH: Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS07565,BMG_DS028295,"MeSH: Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS07566,BMG_DS028296,MONDO: Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes. | MeSH: Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes.
+BMGC_DS07567,BMG_DS028298,"MONDO: A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems | MeSH: An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)"
+BMGC_DS07568,BMG_DS028306,"MONDO: Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) | MeSH: SCHISTOSOMIASIS of the brain, spinal cord, or meninges caused by infections with trematodes of the genus SCHISTOSOMA (primarily SCHISTOSOMA JAPONICUM; SCHISTOSOMA MANSONI; and SCHISTOSOMA HAEMATOBIUM in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)"
+BMGC_DS07569,BMG_DS028311,"MeSH: Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS07570,BMG_DS028312,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07571,BMG_DS028313,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07572,BMG_DS028314,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07573,BMG_DS028315,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07574,BMG_DS028316,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07575,BMG_DS028317,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07576,BMG_DS028318,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07577,BMG_DS028319,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07578,BMG_DS028320,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07579,BMG_DS028321,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07580,BMG_DS028322,"ORPHANET: A rare neurologic disease characterized by the manifestation of an underlying psychiatric illness or malingering, and that cannot be attributed to any known structural or neurochemical diseases. Most cases fall in the psychiatric diagnostic category of conversion disorder, also referred to as functional neurological symptom disorder. | MONDO: Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype. | MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS07581,BMG_DS028323,"HPO: Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. [https://orcid.org/0000-0002-0736-9199] | MONDO: Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome). | MeSH: Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES."
+BMGC_DS07582,BMG_DS028326,"MeSH: Nervous system infections caused by tick-borne spirochetes of the BORRELIA BURGDORFERI GROUP. The disease may affect elements of the central or peripheral nervous system in isolation or in combination. Common clinical manifestations include a lymphocytic meningitis, cranial neuropathy (most often a facial neuropathy), POLYRADICULOPATHY, and a mild loss of memory and other cognitive functions. Less often more extensive inflammation involving the central nervous system (encephalomyelitis) may occur. In the peripheral nervous system, B. burgdorferi infection is associated with mononeuritis multiplex and polyradiculoneuritis. (From J Neurol Sci 1998 Jan 8;153(2):182-91)"
+BMGC_DS07583,BMG_DS028333,"MeSH: Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation."
+BMGC_DS07584,BMG_DS028334,"MeSH: Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation."
+BMGC_DS07585,BMG_DS028335,"MeSH: Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation."
+BMGC_DS07586,BMG_DS028336,"MONDO: A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. | MeSH: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality."
+BMGC_DS07587,BMG_DS028339,"MeSH: A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)"
+BMGC_DS07588,BMG_DS028340,"MeSH: A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)"
+BMGC_DS07589,BMG_DS028348,"NCI: Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures. | MeSH: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions."
+BMGC_DS07590,BMG_DS028349,"MeSH: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions."
+BMGC_DS07591,BMG_DS028350,"MeSH: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions."
+BMGC_DS07592,BMG_DS028351,"MeSH: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions."
+BMGC_DS07593,BMG_DS028352,"MONDO: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions. | MeSH: A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions."
+BMGC_DS07594,BMG_DS028353,"MeSH: A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)."
+BMGC_DS07595,BMG_DS028354,"HPO: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. [https://orcid.org/0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064] | MeSH: A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur."
+BMGC_DS07596,BMG_DS028361,"MONDO: Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. | MeSH: Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders."
+BMGC_DS07597,BMG_DS028362,MeSH: Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders.
+BMGC_DS07598,BMG_DS028363,MeSH: Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders.
+BMGC_DS07599,BMG_DS028365,"MONDO: Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3) | MeSH: Infections of the nervous system caused by fungi of the genus ASPERGILLUS, most commonly ASPERGILLUS FUMIGATUS. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing MENINGITIS, FUNGAL; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)"
+BMGC_DS07600,BMG_DS028366,"MONDO: A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. | MeSH: A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)"
+BMGC_DS07601,BMG_DS028367,"MONDO: A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves. | MeSH: Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL)."
+BMGC_DS07602,BMG_DS028369,"NCI: An autosomal dominant inherited potassium aggravated myotonia caused by mutations of the SCN4A gene. It is characterized by mild muscle stiffness that develops during rest approximately an hour after exercise and lasts for about an hour. It worsens by ingestion of potassium-rich food. | MONDO: Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion."
+BMGC_DS07603,BMG_DS028373,
+BMGC_DS07604,BMG_DS028374,"NCI: A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. | MONDO: Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac."
+BMGC_DS07605,BMG_DS028391,"MONDO: Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism."
+BMGC_DS07606,BMG_DS028396,"MONDO: Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis."
+BMGC_DS07607,BMG_DS028398,MONDO: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.
+BMGC_DS07608,BMG_DS028403,"MONDO: A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. | MeSH: A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia."
+BMGC_DS07609,BMG_DS028416,"NCI: A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums. | MONDO: Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay."
+BMGC_DS07610,BMG_DS028426,
+BMGC_DS07611,BMG_DS028427,"MONDO: A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency."
+BMGC_DS07612,BMG_DS028429,"MONDO: Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome."
+BMGC_DS07613,BMG_DS028430,MONDO: Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.
+BMGC_DS07614,BMG_DS028432,
+BMGC_DS07615,BMG_DS028433,"MONDO: Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism."
+BMGC_DS07616,BMG_DS028434,
+BMGC_DS07617,BMG_DS028435,"MONDO: X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype."
+BMGC_DS07618,BMG_DS028436,"MONDO: Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963."
+BMGC_DS07619,BMG_DS028437,"MONDO: Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported."
+BMGC_DS07620,BMG_DS028438,"MONDO: Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities."
+BMGC_DS07621,BMG_DS028440,
+BMGC_DS07622,BMG_DS028441,"MONDO: Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991."
+BMGC_DS07623,BMG_DS028442,"MONDO: DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome."
+BMGC_DS07624,BMG_DS028444,"MONDO: Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature."
+BMGC_DS07625,BMG_DS028445,"MONDO: Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive."
+BMGC_DS07626,BMG_DS028446,"MONDO: A syndrome characterized by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies."
+BMGC_DS07627,BMG_DS028448,"MONDO: Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features."
+BMGC_DS07628,BMG_DS028450,MONDO: Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.
+BMGC_DS07629,BMG_DS028451,"MONDO: Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"
+BMGC_DS07630,BMG_DS028452,"MONDO: XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance."
+BMGC_DS07631,BMG_DS028453,"MONDO: MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles."
+BMGC_DS07632,BMG_DS028454,"MONDO: Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications."
+BMGC_DS07633,BMG_DS028455,"MONDO: A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported."
+BMGC_DS07634,BMG_DS028456,"MONDO: Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood."
+BMGC_DS07635,BMG_DS028457,"MONDO: Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated."
+BMGC_DS07636,BMG_DS028459,"MONDO: A genetic disorder characterized by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family."
+BMGC_DS07637,BMG_DS028462,"MONDO: Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic."
+BMGC_DS07638,BMG_DS028463,"MONDO: Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients."
+BMGC_DS07639,BMG_DS028467,
+BMGC_DS07640,BMG_DS028468,"MONDO: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency."
+BMGC_DS07641,BMG_DS028469,"MONDO: Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation."
+BMGC_DS07642,BMG_DS028470,
+BMGC_DS07643,BMG_DS028471,"MONDO: An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism."
+BMGC_DS07644,BMG_DS028472,"MONDO: Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet."
+BMGC_DS07645,BMG_DS028473,
+BMGC_DS07646,BMG_DS028474,"MONDO: Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32."
+BMGC_DS07647,BMG_DS028475,"MONDO: Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations."
+BMGC_DS07648,BMG_DS028476,"MONDO: Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive."
+BMGC_DS07649,BMG_DS028477,"MONDO: The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems."
+BMGC_DS07650,BMG_DS028478,
+BMGC_DS07651,BMG_DS028479,"MONDO: Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions."
+BMGC_DS07652,BMG_DS028480,"MONDO: Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy."
+BMGC_DS07653,BMG_DS028481,MONDO: A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
+BMGC_DS07654,BMG_DS028482,MONDO: Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.
+BMGC_DS07655,BMG_DS028483,"MONDO: Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly."
+BMGC_DS07656,BMG_DS028485,
+BMGC_DS07657,BMG_DS028487,"MONDO: This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit."
+BMGC_DS07658,BMG_DS028488,"MONDO: Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait."
+BMGC_DS07659,BMG_DS028489,
+BMGC_DS07660,BMG_DS028491,
+BMGC_DS07661,BMG_DS028492,MONDO: Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.
+BMGC_DS07662,BMG_DS028494,"MONDO: Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated."
+BMGC_DS07663,BMG_DS028495,"MONDO: Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive."
+BMGC_DS07664,BMG_DS028496,"NCI: A rare autosomal dominant syndrome caused by mutations in the MYCN oncogene. It is characterized by microcephaly, limb abnormalities, esophageal and/or duodenal atresia. | MONDO: Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures."
+BMGC_DS07665,BMG_DS028497,MONDO: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.
+BMGC_DS07666,BMG_DS028498,
+BMGC_DS07667,BMG_DS028499,"MONDO: An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards."
+BMGC_DS07668,BMG_DS028503,"MONDO: Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients."
+BMGC_DS07669,BMG_DS028504,
+BMGC_DS07670,BMG_DS028505,"MONDO: A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism."
+BMGC_DS07671,BMG_DS028506,"MONDO: Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported."
+BMGC_DS07672,BMG_DS028508,"MONDO: Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation."
+BMGC_DS07673,BMG_DS028509,"MONDO: Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations."
+BMGC_DS07674,BMG_DS028510,"MONDO: A form of ectodermal dysplasia characterized by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair."
+BMGC_DS07675,BMG_DS028511,"MONDO: Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."
+BMGC_DS07676,BMG_DS028512,"MONDO: C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability."
+BMGC_DS07677,BMG_DS028513,"SNOMEDCT_US: A polymalformation syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. | MONDO: Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit."
+BMGC_DS07678,BMG_DS028514,
+BMGC_DS07679,BMG_DS028515,"MONDO: Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit."
+BMGC_DS07680,BMG_DS028516,"MONDO: Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment)."
+BMGC_DS07681,BMG_DS028518,"MONDO: Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism."
+BMGC_DS07682,BMG_DS028519,"MeSH: A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as Greek helmet face - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS."
+BMGC_DS07683,BMG_DS028522,"MONDO: A rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy."
+BMGC_DS07684,BMG_DS028523,"MONDO: Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive."
+BMGC_DS07685,BMG_DS028524,"MONDO: Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed."
+BMGC_DS07686,BMG_DS028525,"MONDO: Pseudoprogeria is characterized by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers."
+BMGC_DS07687,BMG_DS028526,"NCI: A heritable condition, caused by mutation(s) in the TREX1 gene, encoding three-prime repair exonuclease 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon. | MONDO: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene."
+BMGC_DS07688,BMG_DS028527,
+BMGC_DS07689,BMG_DS028528,"MONDO: An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature."
+BMGC_DS07690,BMG_DS028530,"MONDO: Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies."
+BMGC_DS07691,BMG_DS028532,"MONDO: Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait."
+BMGC_DS07692,BMG_DS028533,"MONDO: Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive."
+BMGC_DS07693,BMG_DS028534,"MONDO: Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. | MeSH: Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation."
+BMGC_DS07694,BMG_DS028535,MONDO: Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
+BMGC_DS07695,BMG_DS028536,"NCI: A rare, X-linked inherited syndrome caused by mutations in the GPC3 and GPC4 genes. It is characterized by pre-and postnatal overgrowth, coarse facial features, macrocephaly, macroglossia, congenital heart defects, and intellectual disability. | MONDO: Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene."
+BMGC_DS07696,BMG_DS028538,"MONDO: Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed."
+BMGC_DS07697,BMG_DS028539,"MONDO: Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit."
+BMGC_DS07698,BMG_DS028541,"MONDO: Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base."
+BMGC_DS07699,BMG_DS028542,"MONDO: A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe."
+BMGC_DS07700,BMG_DS028543,
+BMGC_DS07701,BMG_DS028544,
+BMGC_DS07702,BMG_DS028545,
+BMGC_DS07703,BMG_DS028546,"MONDO: Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia."
+BMGC_DS07704,BMG_DS028548,"MONDO: A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion."
+BMGC_DS07705,BMG_DS028549,"MONDO: A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter."
+BMGC_DS07706,BMG_DS028550,"MONDO: Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability."
+BMGC_DS07707,BMG_DS028552,MONDO: A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.
+BMGC_DS07708,BMG_DS028554,"MONDO: This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes)."
+BMGC_DS07709,BMG_DS028555,"MONDO: Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking."
+BMGC_DS07710,BMG_DS028556,
+BMGC_DS07711,BMG_DS028558,
+BMGC_DS07712,BMG_DS028559,
+BMGC_DS07713,BMG_DS028560,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene.
+BMGC_DS07714,BMG_DS028561,"MONDO: X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted."
+BMGC_DS07715,BMG_DS028562,
+BMGC_DS07716,BMG_DS028563,
+BMGC_DS07717,BMG_DS028564,
+BMGC_DS07718,BMG_DS028565,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RPS6KA3 gene.
+BMGC_DS07719,BMG_DS028566,
+BMGC_DS07720,BMG_DS028567,
+BMGC_DS07721,BMG_DS028568,"MONDO: Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported."
+BMGC_DS07722,BMG_DS028569,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene.
+BMGC_DS07723,BMG_DS028570,
+BMGC_DS07724,BMG_DS028571,
+BMGC_DS07725,BMG_DS028572,"MONDO: A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person."
+BMGC_DS07726,BMG_DS028573,"MONDO: X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition."
+BMGC_DS07727,BMG_DS028575,
+BMGC_DS07728,BMG_DS028576,"NCI: An autosomal recessive neurologic condition caused by mutation(s) in the SLC52A3 gene, encoding solute carrier family 52, riboflavin transporter, member 3. It is characterized by sensorineural hearing loss and varying cranial nerve palsies, usually affecting the motor components of the seventh and ninth to twelfth cranial nerves. Spinal motor nerves are often affected. Mutations in SLC52A3 may result in Faxio-Lone disease, which is a similar condition, but sensorineural deafness is not present. | MONDO: Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene."
+BMGC_DS07729,BMG_DS028577,"MONDO: Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood."
+BMGC_DS07730,BMG_DS028579,MONDO: Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.
+BMGC_DS07731,BMG_DS028580,"MONDO: Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome."
+BMGC_DS07732,BMG_DS028581,"MONDO: Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait."
+BMGC_DS07733,BMG_DS028584,NCI: A neoplasm of the choroid plexus occurring in adults. | MONDO: A choroid plexus neoplasm that occurs in an adult.
+BMGC_DS07734,BMG_DS028586,NCI: A small round cell tumor with or without neural differentiation that is confined to a specific site without evidence of spread to other anatomic sites.
+BMGC_DS07735,BMG_DS028587,NCI: A germ cell tumor that arises from the testis during childhood. | MONDO: A germ cell tumor that arises from the testis during childhood.
+BMGC_DS07736,BMG_DS028588,NCI: A germ cell tumor that arises from the ovary and occurs in children. | MONDO: A germ cell tumor that arises from the ovary and occurs in children.
+BMGC_DS07737,BMG_DS028590,"MONDO: An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971."
+BMGC_DS07738,BMG_DS028594,"NCI: A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive. | MONDO: A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive."
+BMGC_DS07739,BMG_DS028595,"MONDO: Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities."
+BMGC_DS07740,BMG_DS028596,"MeSH: Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)"
+BMGC_DS07741,BMG_DS028598,MeSH: Disruptions of the rhythmic cycle of bodily functions or activities.
+BMGC_DS07742,BMG_DS028599,HPO: An abnormal increase in the level of triglycerides in the blood. [https://orcid.org/0000-0002-0736-9199] | MONDO: A laboratory test result indicating elevated triglyceride concentration in the blood.
+BMGC_DS07743,BMG_DS028601,"NCI: A cognitive and neurological disorder due to fetal intrauterine exposure to maternal alcohol consumption. Typically, this presents without facies or other growth abnormalities. | MeSH: An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETARDATION, central nervous system abnormalities, cognitive and/or behavioral dysfunction, BIRTH DEFECTS. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity."
+BMGC_DS07744,BMG_DS028603,"MONDO: A disease characterized by higher than normal platelet counts in the peripheral blood. | MeSH: Increased numbers of platelets in the peripheral blood. (Dorland, 27th ed)"
+BMGC_DS07745,BMG_DS028621,
+BMGC_DS07746,BMG_DS029146,"HPO: A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding. [PMID:29262195]"
+BMGC_DS07747,BMG_DS029148,MONDO: A benign skin neoplasm composed of epithelial cells.
+BMGC_DS07748,BMG_DS029156,"MONDO: Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. | MeSH: A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA."
+BMGC_DS07749,BMG_DS029157,NCI: A carcinoma that arises from any of the structures of the eye. | MONDO: A carcinoma that arises from epithelial cells of the eye
+BMGC_DS07750,BMG_DS029158,
+BMGC_DS07751,BMG_DS029166,
+BMGC_DS07752,BMG_DS029172,"MONDO: Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003"
+BMGC_DS07753,BMG_DS029189,"MONDO: Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. | MeSH: Infections with species in the genus PNEUMOCYSTIS, a fungus causing interstitial plasma cell pneumonia (PNEUMONIA, PNEUMOCYSTIS) and other infections in humans and other MAMMALS. Immunocompromised patients, especially those with AIDS, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally."
+BMGC_DS07754,BMG_DS029191,MONDO: A hypertensive disorder that develops during pregnancy.
+BMGC_DS07755,BMG_DS029192,MONDO: Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. | MeSH: Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
+BMGC_DS07756,BMG_DS029195,"MeSH: A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA."
+BMGC_DS07757,BMG_DS029199,MONDO: Infections with bacteria of the family moraxellaceae. | MeSH: Infections with bacteria of the family MORAXELLACEAE.
+BMGC_DS07758,BMG_DS029202,NCI: A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree. | MONDO: A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree.
+BMGC_DS07759,BMG_DS029209,NCI: A carcinoma that arises from the penis. Risk factors include phimosis and human papillomavirus infection. The majority of penile carcinomas are squamous cell carcinomas. The most frequent clinical presentation is an irregular mass in the glans of the penis. Treatment includes surgical management and radiation therapy. | MONDO: A carcinoma that arises from epithelial cells of the penis
+BMGC_DS07760,BMG_DS029210,MONDO: A bipolar disorder that is characterized by at least one manic or mixed episode.
+BMGC_DS07761,BMG_DS029211,"NCI: Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus. | MONDO: Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus."
+BMGC_DS07762,BMG_DS029214,NCI: A melanoma affecting the retinal portion of the eye. | MONDO: A melanoma affecting the retinal portion of the eye. --2003
+BMGC_DS07763,BMG_DS029215,NCI: A neoplasm with papillary architectural pattern arising from the renal pelvis urothelial cells. | MONDO: A papillary tumor originating in the renal pelvis.
+BMGC_DS07764,BMG_DS029218,NCI: A decrease in the number of neutrophils in the peripheral blood. | MONDO: A decrease in the number of neutrophils found in the blood.
+BMGC_DS07765,BMG_DS029219,NCI: A capillary or cavernous hemangioma arising from the breast. | MONDO: A capillary or cavernous hemangioma arising from the breast.
+BMGC_DS07766,BMG_DS029222,"NCI: A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women. | MONDO: A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women."
+BMGC_DS07767,BMG_DS029223,"MeSH: Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance."
+BMGC_DS07768,BMG_DS029225,"HPO: A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. [https://orcid.org/0000-0002-0736-9199, PMID:7706500]"
+BMGC_DS07769,BMG_DS029226,"MeSH: Acute inflammation of the APPENDIX. Acute appendicitis is classified as simple, gangrenous, or perforated."
+BMGC_DS07770,BMG_DS029230,MeSH: A group of disorders characterized by physiological and/or psychological disturbances in appetite or food intake.
+BMGC_DS07771,BMG_DS029231,NCI: Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva. | MONDO: Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva.
+BMGC_DS07772,BMG_DS029232,"NCI: A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. | MONDO: A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma."
+BMGC_DS07773,BMG_DS029233,
+BMGC_DS07774,BMG_DS029235,
+BMGC_DS07775,BMG_DS029237,
+BMGC_DS07776,BMG_DS029238,
+BMGC_DS07777,BMG_DS029240,NCI: Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection. | MONDO: Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.
+BMGC_DS07778,BMG_DS029245,"NCI: A hormone producing pituitary neuroendocrine tumor associated with a hormonal syndrome. | MONDO: A hormone producing pituitary gland adenoma, associated with a hormonal syndrome."
+BMGC_DS07779,BMG_DS029253,
+BMGC_DS07780,BMG_DS029255,"MONDO: An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. | MeSH: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues."
+BMGC_DS07781,BMG_DS029256,NCI: A malignant liver neoplasm that is amenable to surgical resection.
+BMGC_DS07782,BMG_DS029257,NCI: T-lymphoblastic leukemia/lymphoma that is resistant to treatment | MONDO: T-lymphoblastic leukemia/lymphoma resistant to treatment
+BMGC_DS07783,BMG_DS029258,NCI: A malignant mesothelioma extensively involving the pericardium.
+BMGC_DS07784,BMG_DS029259,NCI: A malignant mesothelioma that arises from the peritoneum and has spread in the abdominal cavity. It may result in bowel obstruction.
+BMGC_DS07785,BMG_DS029260,NCI: Angiosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.
+BMGC_DS07786,BMG_DS029261,NCI: A germinoma that arises from the pineal gland. | MONDO: A germinoma that arises from the pineal gland.
+BMGC_DS07787,BMG_DS029262,NCI: Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. | MONDO: Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.
+BMGC_DS07788,BMG_DS029263,NCI: A retinoblastoma that only involves a single eye. | MONDO: A retinoblastoma that only involves a single eye.
+BMGC_DS07789,BMG_DS029264,"NCI: A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. | MONDO: A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor."
+BMGC_DS07790,BMG_DS029265,MONDO: Carcinoma of the ureter without spread to any other region.
+BMGC_DS07791,BMG_DS029266,"MONDO: A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor."
+BMGC_DS07792,BMG_DS029267,NCI: A malignant epithelial neoplasm arising in the paranasal sinus. | MONDO: A malignant epithelial neoplasm arising in the paranasal sinus.
+BMGC_DS07793,BMG_DS029268,NCI: A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain. | MONDO: A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.
+BMGC_DS07794,BMG_DS029269,NCI: A non-disseminated skeletal or extraskeletal chondrosarcoma. | MONDO: A non-disseminated skeletal or extraskeletal chondrosarcoma.
+BMGC_DS07795,BMG_DS029270,NCI: An osteosarcoma arising from the soft tissue. | MONDO: An osteosarcoma arising from the soft tissue.
+BMGC_DS07796,BMG_DS029272,NCI: Diffuse large B-cell lymphoma that is resistant to treatment. | MONDO: A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission.
+BMGC_DS07797,BMG_DS029274,NCI: An embryonal carcinoma that develops as a primary tumor in an anatomic site other than the testis or ovary.
+BMGC_DS07798,BMG_DS029275,NCI: An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary. | MONDO: An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.
+BMGC_DS07799,BMG_DS029276,NCI: Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur. | MONDO: Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur.
+BMGC_DS07800,BMG_DS029277,"NCI: A malignant germ cell tumor that arises from the testis. It predominantly affects young men. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor. | MONDO: A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor."
+BMGC_DS07801,BMG_DS029286,
+BMGC_DS07802,BMG_DS029288,
+BMGC_DS07803,BMG_DS029290,MONDO: Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. | MeSH: A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
+BMGC_DS07804,BMG_DS029293,NCI: Polycythemia resulting from dehydration. | MONDO: Polycythemia resulting from dehydration.
+BMGC_DS07805,BMG_DS029294,NCI: Polycythemia that is not pathologic. | MONDO: Polycythemia that is not pathologic.
+BMGC_DS07806,BMG_DS029295,NCI: Polycythemia resulting from hypoxia. | MONDO: Polycythemia resulting from hypoxia.
+BMGC_DS07807,BMG_DS029296,"NCI: A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation. | MONDO: A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation."
+BMGC_DS07808,BMG_DS029297,"MONDO: A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)."
+BMGC_DS07809,BMG_DS029299,NCI: A hemangioma that is not present at birth but develops later in life. | MONDO: A hemangioma that is not present at birth but develops later in life.
+BMGC_DS07810,BMG_DS029300,"NCI: A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma. | MONDO: A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma."
+BMGC_DS07811,BMG_DS029301,
+BMGC_DS07812,BMG_DS029304,"NCI: Increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities. | MeSH: Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin."
+BMGC_DS07813,BMG_DS029314,"MONDO: An pneumonia caused by infection with Staphylococcus aureus. | MeSH: Pneumonia caused by infections with bacteria of the genus STAPHYLOCOCCUS, usually with STAPHYLOCOCCUS AUREUS."
+BMGC_DS07814,BMG_DS029316,"NCI: The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ. | MONDO: A carcinoma that arises from glandular epithelial cells of the breast"
+BMGC_DS07815,BMG_DS029317,HPO: A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS07816,BMG_DS029318,HPO: A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. [HPO_CONTRIBUTOR:DDD_ncarter]
+BMGC_DS07817,BMG_DS029319,"MeSH: Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)"
+BMGC_DS07818,BMG_DS029323,"NCI: Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. | MONDO: Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure."
+BMGC_DS07819,BMG_DS029327,"HPO: An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth. [https://orcid.org/0000-0002-0736-9199, NCIT:C7367] | MONDO: A benign or malignant neoplasm arising from the hair follicle."
+BMGC_DS07820,BMG_DS029329,"NCI: A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels. | MONDO: A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels."
+BMGC_DS07821,BMG_DS029330,"SNOMEDCT_US: Characterised by loss of oesophageal peristalsis and insufficient lower oesophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise aetiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant aetiologic factor. | MONDO: A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition."
+BMGC_DS07822,BMG_DS029331,MeSH: Infection of the VULVA and VAGINA with a fungus of the genus CANDIDA.
+BMGC_DS07823,BMG_DS029333,"ORPHANET: A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias. | MONDO: A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person."
+BMGC_DS07824,BMG_DS029336,
+BMGC_DS07825,BMG_DS029337,"NCI: Damage to the liver tissue due to drug overdose. | MONDO: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment. | MeSH: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment."
+BMGC_DS07826,BMG_DS029339,
+BMGC_DS07827,BMG_DS029342,"NCI: A syndrome observed in patients with acute promyelocytic leukemia treated with all-trans retinoic acid. It is characterized by weight gain, dyspnea, pleural and pericardial effusions, leukocytosis, and renal failure."
+BMGC_DS07828,BMG_DS029343,"NCI: An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent. | MONDO: An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent."
+BMGC_DS07829,BMG_DS029348,"NCI: A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma. | MONDO: A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma."
+BMGC_DS07830,BMG_DS029349,NCI: A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components. | MONDO: An adenosquamous carcinoma that arises from the bile ducts.
+BMGC_DS07831,BMG_DS029350,NCI: A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells. | MONDO: A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells.
+BMGC_DS07832,BMG_DS029351,NCI: An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. | MONDO: An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.
+BMGC_DS07833,BMG_DS029352,
+BMGC_DS07834,BMG_DS029353,NCI: An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells. | MONDO: An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells.
+BMGC_DS07835,BMG_DS029354,NCI: A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells. | MONDO: A squamous cell carcinoma that involves the bile duct.
+BMGC_DS07836,BMG_DS029355,"NCI: A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001)"
+BMGC_DS07837,BMG_DS029357,"NCI: A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns. | MONDO: A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity."
+BMGC_DS07838,BMG_DS029359,NCI: A urothelial carcinoma that arises from the male or female urethra. | MONDO: A transitional cell carcinoma that arises from the male or female urethra.
+BMGC_DS07839,BMG_DS029360,NCI: A rare adenocarcinoma that arises from the rete testis. It usually presents with a scrotal mass or lumbar pain. | MONDO: A carcinoma that arises from glandular epithelial cells of the rete testis
+BMGC_DS07840,BMG_DS029361,"NCI: A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics. | MONDO: A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics."
+BMGC_DS07841,BMG_DS029362,NCI: Ewing sarcoma that is confined to a specific site without evidence of spread to other anatomic sites.
+BMGC_DS07842,BMG_DS029386,
+BMGC_DS07843,BMG_DS029389,
+BMGC_DS07844,BMG_DS029390,
+BMGC_DS07845,BMG_DS029402,NCI: Diffuse replacement of the lung tissue by connective tissue. | MONDO: Diffuse replacement of the lung tissue by connective tissue.
+BMGC_DS07846,BMG_DS029415,"NCI: A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, and may affect multiple organs with manifestations similar to autoimmune diseases. The onset is usually within three years of transplantation or immunologic manipulation. | MONDO: Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications."
+BMGC_DS07847,BMG_DS029420,
+BMGC_DS07848,BMG_DS029425,"NCI: Inflammation of the heart or its surroundings. (ACC-AHA) | MONDO: An inflammatory disease involving a pathogenic inflammatory response in the heart layer. | MeSH: Inflammatory processes of the muscular walls of the heart (MYOCARDIUM) which result in injury to the cardiac muscle cells (MYOCYTES, CARDIAC). Manifestations range from subclinical to sudden death (DEATH, SUDDEN). Myocarditis in association with cardiac dysfunction is classified as inflammatory CARDIOMYOPATHY usually caused by INFECTION, autoimmune diseases, or responses to toxic substances. Myocarditis is also a common cause of DILATED CARDIOMYOPATHY and other cardiomyopathies."
+BMGC_DS07849,BMG_DS029429,
+BMGC_DS07850,BMG_DS029433,MONDO: OBSOLETE. Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles. | MeSH: Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles.
+BMGC_DS07851,BMG_DS029434,"SNOMEDCT_US: Syndrome with the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. The symptoms are progressive and the clinical picture is dominated by severe gastrointestinal disorders due to abnormal bowel motility. Morphological studies of the muscles reveal the presence of a low proportion of muscle fibers with mitochondrial proliferation (ragged-red fibers) or cytochrome c oxidase deficiency. Inherited in an autosomal recessive manner and is caused by mutations in the TYMP gene (22q13.32-qter). | MONDO: A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy."
+BMGC_DS07852,BMG_DS029440,"SNOMEDCT_US: A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. Caused by mutations in the SMARCAL1 gene (2q35), which encodes the chromatin remodeling protein hHARP (also known as the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1). An autosomal recessive disorder. | MONDO: A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome."
+BMGC_DS07853,BMG_DS029449,"MONDO: A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome. | MeSH: A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome."
+BMGC_DS07854,BMG_DS029450,"NCI: A variant of phlegmonous gastritis, typically progressing to gastric gangrene. | MONDO: A variant of phlegmonous gastritis, typically progressing to gastric gangrene."
+BMGC_DS07855,BMG_DS029454,"NCI: A condition presenting toward the end of pregnancy or in the months following delivery characterized by left ventricular dysfunction. The NHLBI introduced the metric of left ventricular ejection fraction of less than 45 percent in 1999. MicroRNA-146a has been cited as a potential biomarker for PPCM. | MONDO: Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery."
+BMGC_DS07856,BMG_DS029460,NCI: An anatomic abnormality of the thyroid gland. | MONDO: An anatomic abnormality of the thyroid gland.
+BMGC_DS07857,BMG_DS029461,NCI: A hemangioma arising from the cerebral hemisphere. | MONDO: A hemangioma arising from the cerebral hemisphere.
+BMGC_DS07858,BMG_DS029464,
+BMGC_DS07859,BMG_DS029466,MONDO: A form of invasive candidiasis where species of candida are present in the blood. | MeSH: A form of invasive candidiasis where species of CANDIDA are present in the blood.
+BMGC_DS07860,BMG_DS029469,NCI: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. | MONDO: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.
+BMGC_DS07861,BMG_DS029470,NCI: An aggressive malignant tumor of melanocytic origin that arises from the cervix. | MONDO: An aggressive malignant tumor of melanocytic origin that arises from the cervix.
+BMGC_DS07862,BMG_DS029473,"NCI: A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma. | MONDO: A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma."
+BMGC_DS07863,BMG_DS029474,MeSH: Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS.
+BMGC_DS07864,BMG_DS029475,MeSH: Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures.
+BMGC_DS07865,BMG_DS029476,NCI: A leukemia characterized by the absence of leukemic cells in the peripheral blood. | MONDO: A leukemia characterized by the absence of leukemic cells in the peripheral blood.
+BMGC_DS07866,BMG_DS029478,MONDO: The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. | MeSH: Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition.
+BMGC_DS07867,BMG_DS029483,"MONDO: A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. | MeSH: A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS)."
+BMGC_DS07868,BMG_DS029484,"ORPHANET: Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis | MONDO: Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis"
+BMGC_DS07869,BMG_DS029486,"MONDO: An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. | MeSH: A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)."
+BMGC_DS07870,BMG_DS029488,
+BMGC_DS07871,BMG_DS029489,"MeSH: Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter."
+BMGC_DS07872,BMG_DS029492,"NCI: A very rare, multisystem non-Langerhans cell histiocytosis that predominantly affects adults. It is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. Patients may present with bone pain, exophthalmos, ataxia, liver failure, kidney failure, and hypopituitarism. | MONDO: Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. | MeSH: A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones."
+BMGC_DS07873,BMG_DS029493,"NCI: An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. | MONDO: An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits."
+BMGC_DS07874,BMG_DS029494,"NCI: A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene have been reported in association with this disease. | MONDO: A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. | MeSH: An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2."
+BMGC_DS07875,BMG_DS029495,"MONDO: Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. | MeSH: X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene."
+BMGC_DS07876,BMG_DS029496,"ORPHANET: A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. | MONDO: An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms."
+BMGC_DS07877,BMG_DS029497,"MONDO: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene."
+BMGC_DS07878,BMG_DS029498,"ORPHANET: A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt. | MONDO: SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease."
+BMGC_DS07879,BMG_DS029499,
+BMGC_DS07880,BMG_DS029503,MeSH: Inflammation of the SYNOVIAL MEMBRANE.
+BMGC_DS07881,BMG_DS029504,"MONDO: Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present. | MeSH: Symptom of overactive detrusor muscle of the URINARY BLADDER that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. URINARY INCONTINENCE may or may not be present."
+BMGC_DS07882,BMG_DS029506,"NCI: A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. | MONDO: A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene."
+BMGC_DS07883,BMG_DS029507,NCI: An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. | MONDO: An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome.
+BMGC_DS07884,BMG_DS029508,"MeSH: The formation of an area of NECROSIS in the CEREBRUM caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction)."
+BMGC_DS07885,BMG_DS029510,
+BMGC_DS07886,BMG_DS029511,"NCI: Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process. | MONDO: Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process."
+BMGC_DS07887,BMG_DS029512,"NCI: Autosomal dominant polycystic kidney disease caused by a mutation in PKD1. | MONDO: A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver. | MeSH: Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function."
+BMGC_DS07888,BMG_DS029516,"NCI: An X-linked inherited disorder characterized by slowly progressing weakness in the muscles of the legs and pelvis. | MONDO: Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. | MeSH: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)"
+BMGC_DS07889,BMG_DS029517,"MONDO: A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. | MeSH: Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations."
+BMGC_DS07890,BMG_DS029518,"MeSH: An acute infectious disease caused by YERSINIA PESTIS that affects humans, wild rodents, and their ectoparasites. This condition persists due to its firm entrenchment in sylvatic rodent-flea ecosystems throughout the world. Bubonic plague is the most common form."
+BMGC_DS07891,BMG_DS029519,"NCI: A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral. | MONDO: Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. | MeSH: A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))"
+BMGC_DS07892,BMG_DS029520,NCI: Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage. | MONDO: Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage.
+BMGC_DS07893,BMG_DS029521,"NCI: A sleep disorder characterized by excessive sleepiness. | MONDO: A sleep disorder characterized by excessive sleepiness. | MeSH: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., IDIOPATHIC HYPERSOMNOLENCE; NARCOLEPSY; and KLEINE-LEVIN SYNDROME) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, MENTAL DISORDERS, and SLEEP APNEA SYNDROME). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)"
+BMGC_DS07894,BMG_DS029522,"SNOMEDCT_US: A rare genetic infantile epilepsy syndrome disease with characteristics of neonatal to infancy onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. | MONDO: A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. | MeSH: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic."
+BMGC_DS07895,BMG_DS029523,MONDO: A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.
+BMGC_DS07896,BMG_DS029524,"HPO: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. [] | MONDO: Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures."
+BMGC_DS07897,BMG_DS029525,"MeSH: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)"
+BMGC_DS07898,BMG_DS029526,"MeSH: Infections of the nervous system caused by bacteria of the genus HAEMOPHILUS, and marked by prominent inflammation of the MENINGES. HAEMOPHILUS INFLUENZAE TYPE B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults."
+BMGC_DS07899,BMG_DS029528,MeSH: Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
+BMGC_DS07900,BMG_DS029529,"MeSH: A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)"
+BMGC_DS07901,BMG_DS029531,MONDO: A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus.
+BMGC_DS07902,BMG_DS029534,"NCI: A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation. | MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS07903,BMG_DS029535,"MONDO: A condition that is characterized by degeneration of the distal phalanges. | MeSH: A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME."
+BMGC_DS07904,BMG_DS029536,"MeSH: Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)"
+BMGC_DS07905,BMG_DS029537,"MONDO: A benign, borderline, or malignant neoplasm involving the ovary. | MeSH: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS."
+BMGC_DS07906,BMG_DS029538,"MeSH: Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)"
+BMGC_DS07907,BMG_DS029542,"MeSH: DEEP VEIN THROMBOSIS of an upper extremity vein (e.g., AXILLARY VEIN; SUBCLAVIAN VEIN; and JUGULAR VEINS). It is associated with mechanical factors (Upper Extremity Deep Vein Thrombosis, Primary) secondary to other anatomic factors (Upper Extremity Deep Vein Thrombosis, Secondary). Symptoms may include sudden onset of pain, warmth, redness, blueness, and swelling in the arm. | MeSH: Spontaneous DEEP VEIN THROMBOSIS of an upper extremity vein, mostly AXILLARY VEIN; and SUBCLAVIAN VEIN. It is frequently precipitated by repetitive physical activity often in young, healthy adults."
+BMGC_DS07908,BMG_DS029543,NCI: Inflammation of the postauricular lymph nodes. | MONDO: Inflammation of the postauricular lymph nodes.
+BMGC_DS07909,BMG_DS029548,"HPO: Excessive or uncontrolled release of proinflammatory cytokines. [PMID:22390970] | MeSH: A severe immune reaction characterized by excessive release of CYTOKINES. Symptoms include DYSPNEA; FEVER; HEADACHE; HYPOTENSION; NAUSEA; RASH; TACHYCARDIA; HYPOXIA; HYPERFERRITINEMIA, and MULTIPLE ORGAN FAILURE. It is associated with viral infections, SEPSIS; AUTOIMMUNE DISEASES and a variety of factors used in IMMUNOTHERAPY."
+BMGC_DS07910,BMG_DS029549,NCI: An infection of the lymph nodes in the axilla. | MONDO: An infection of the lymph nodes in the axilla.
+BMGC_DS07911,BMG_DS029560,NCI: A carcinoma that arises from the eyelid. Examples include basal cell carcinoma and squamous cell carcinoma. | MONDO: A carcinoma that arises from epithelial cells of the eyelid.
+BMGC_DS07912,BMG_DS029562,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS07913,BMG_DS029564,
+BMGC_DS07914,BMG_DS029565,MONDO: Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis. | MeSH: Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.
+BMGC_DS07915,BMG_DS029569,"MONDO: Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. | MeSH: A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY."
+BMGC_DS07916,BMG_DS029570,"MeSH: A nutritional condition produced by a deficiency of VITAMIN B 6 in the diet, characterized by dermatitis, glossitis, cheilosis, and stomatitis. Marked deficiency causes irritability, weakness, depression, dizziness, peripheral neuropathy, and seizures. In infants and children typical manifestations are diarrhea, anemia, and seizures. Deficiency can be caused by certain medications, such as isoniazid."
+BMGC_DS07917,BMG_DS029572,"MeSH: A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)"
+BMGC_DS07918,BMG_DS029574,MeSH: Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures.
+BMGC_DS07919,BMG_DS029575,"MONDO: A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. | MeSH: A benign neoplasm derived from mesodermal cells that form cartilage. It may remain within the substance of a cartilage or bone (true chondroma or enchondroma) or may develop on the surface of a cartilage (ecchondroma or ecchondrosis). (Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS07920,BMG_DS029576,"MeSH: A disseminated vesicular-pustular eruption caused by the herpes simplex virus (HERPESVIRUS HOMINIS), the VACCINIA VIRUS, or Varicella zoster (HERPESVIRUS 3, HUMAN). It is usually superimposed on a preexisting, inactive or active, atopic dermatitis (DERMATITIS, ATOPIC)."
+BMGC_DS07921,BMG_DS029577,MeSH: Disease or injury involving multiple SPINAL NERVE ROOTS. Polyradiculitis refers to inflammation of multiple spinal nerve roots.
+BMGC_DS07922,BMG_DS029579,"MeSH: A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)"
+BMGC_DS07923,BMG_DS029581,MeSH: Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS.
+BMGC_DS07924,BMG_DS029582,MeSH: Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS.
+BMGC_DS07925,BMG_DS029583,"SNOMEDCT_US: A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility and less commonly peripheral neuropathy and renal failure. Caused by mutation in the gelsolin gene (GSN). | MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN."
+BMGC_DS07926,BMG_DS029584,NCI: A rare embryonal neoplasm affecting children. It is associated with DICER1 gene mutation. This category includes pituitary gland blastoma and pleuropulmonary blastoma. | MONDO: A malignant neoplasm composed of undifferentiated cells.
+BMGC_DS07927,BMG_DS029585,"NCI: A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction. | MONDO: A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction."
+BMGC_DS07928,BMG_DS029593,"MONDO: Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity. | MeSH: Presence or formation of GALLSTONES in the GALLBLADDER."
+BMGC_DS07929,BMG_DS029596,"HPO: Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. [PMID:32054610]"
+BMGC_DS07930,BMG_DS029597,NCI: Gastritis resulting from bacteria. | MONDO: Gastritis resulting from bacteria.
+BMGC_DS07931,BMG_DS029601,NCI: Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. | MONDO: Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. | MeSH: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
+BMGC_DS07932,BMG_DS029605,"MONDO: Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months. | MeSH: A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA. This results in a floppy tracheal wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing."
+BMGC_DS07933,BMG_DS029607,
+BMGC_DS07934,BMG_DS029609,"NCI: An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma. | MONDO: An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma."
+BMGC_DS07935,BMG_DS029611,"NCI: A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening. | MONDO: A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening. | MeSH: A severe immune reaction characterized by excessive release of CYTOKINES. Symptoms include DYSPNEA; FEVER; HEADACHE; HYPOTENSION; NAUSEA; RASH; TACHYCARDIA; HYPOXIA; HYPERFERRITINEMIA, and MULTIPLE ORGAN FAILURE. It is associated with viral infections, SEPSIS; AUTOIMMUNE DISEASES and a variety of factors used in IMMUNOTHERAPY."
+BMGC_DS07936,BMG_DS029614,"NCI: A state of hypoperfusion that does not support normal organ perfusion or function. It can include periods of reduced, unstable, or abnormal blood pressure with near syncope, or episodes of syncope."
+BMGC_DS07937,BMG_DS029621,"ORPHANET: A rare, genetic multiple congenital anomalies syndrome characterized by genitourinary malformations (hydrometrocolpos in females and in males, glanular hypospadias and prominent scrotal raphe) , postaxial polydactyly that may affect only one or several limbs, and to a lesser extent cardiac defects. Hydrometrocolpos is due to either a congenital obstruction, imperforate hymen or vaginal atressia, and causes a palpable mass and possibly hydronephrosis. Other anomalies occasionally reported include choanal atresia, pituitary dysplasia, esophageal atresia and distal tracheoesophageal fistula, Hirschsprung disease, vertebral anomalies, and hydrops fetalis. The disorder is allelic with Bardet-Biedl, and as some phenotypic overlap has been observed, patients should be reevaluated in later childhood for retinistis pigmentosas and other signs of Bardet-Biedl syndrome. | MONDO: McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations."
+BMGC_DS07938,BMG_DS029629,MONDO: Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction. | MeSH: Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.
+BMGC_DS07939,BMG_DS029635,NCI: Gastritis resulting from fungi. | MONDO: Gastritis resulting from fungi.
+BMGC_DS07940,BMG_DS029638,NCI: Incomplete development of the pituitary gland. | MONDO: Incomplete development of the pituitary gland.
+BMGC_DS07941,BMG_DS029639,NCI: A rare carcinoma that arises from the retroperitoneal space. | MONDO: A carcinoma that arises from epithelial cells of the retroperitoneal space.
+BMGC_DS07942,BMG_DS029640,"NCI: A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma. | MONDO: A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma."
+BMGC_DS07943,BMG_DS029643,
+BMGC_DS07944,BMG_DS029646,NCI: Ovarian or testicular dysfunction associated with high levels of gonadotropins.
+BMGC_DS07945,BMG_DS029648,"NCI: A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ. | MONDO: A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ."
+BMGC_DS07946,BMG_DS029649,"NCI: A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma. | MONDO: A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
+BMGC_DS07947,BMG_DS029651,HPO: Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. [] | MONDO: A polyp that involves the large intestine.
+BMGC_DS07948,BMG_DS029652,NCI: Pneumonia acquired during a hospital stay.
+BMGC_DS07949,BMG_DS029653,MeSH: An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.
+BMGC_DS07950,BMG_DS029654,
+BMGC_DS07951,BMG_DS029664,"MONDO: Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. | MeSH: A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients."
+BMGC_DS07952,BMG_DS029665,MONDO: A congenital disorder characterized by the complete absence of gonadal tissue.
+BMGC_DS07953,BMG_DS029666,"MeSH: Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES."
+BMGC_DS07954,BMG_DS029667,MeSH: A group of muscle diseases associated with abnormal mitochondria function.
+BMGC_DS07955,BMG_DS029669,"MONDO: Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. | MeSH: A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis."
+BMGC_DS07956,BMG_DS029670,
+BMGC_DS07957,BMG_DS029671,
+BMGC_DS07958,BMG_DS029673,"NCI: Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. | MONDO: Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. | MeSH: An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN."
+BMGC_DS07959,BMG_DS029674,"MONDO: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. | MeSH: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy (SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration."
+BMGC_DS07960,BMG_DS029676,"MeSH: Inflammation of the joints of the SPINE, the intervertebral articulations."
+BMGC_DS07961,BMG_DS029677,"MONDO: A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. | MeSH: Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others."
+BMGC_DS07962,BMG_DS029678,"MONDO: Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal). | MeSH: Infections with POLYOMAVIRUS, which are often cultured from the urine of kidney transplant patients. Excretion of BK VIRUS is associated with ureteral strictures and CYSTITIS, and that of JC VIRUS with progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL)."
+BMGC_DS07963,BMG_DS029679,"MeSH: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
+BMGC_DS07964,BMG_DS029680,"MeSH: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
+BMGC_DS07965,BMG_DS029681,"MeSH: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
+BMGC_DS07966,BMG_DS029684,"MONDO: Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. | MeSH: A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11."
+BMGC_DS07967,BMG_DS029685,"MONDO: Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. | MeSH: A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11."
+BMGC_DS07968,BMG_DS029686,"MeSH: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero."
+BMGC_DS07969,BMG_DS029687,MeSH: Neoplasms of the skin and mucous membranes caused by papillomaviruses. They are usually benign but some have a high risk for malignant progression.
+BMGC_DS07970,BMG_DS029688,"MeSH: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"
+BMGC_DS07971,BMG_DS029690,"MeSH: A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia."
+BMGC_DS07972,BMG_DS029692,"MONDO: Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery. | MeSH: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE."
+BMGC_DS07973,BMG_DS029694,MeSH: Epileptic condition in which adequate trials of two tolerated and appropriately chosen and used ANTIEPILEPTIC DRUGS schedules to achieve sustained seizure freedom failed.
+BMGC_DS07974,BMG_DS029701,"MeSH: A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system."
+BMGC_DS07975,BMG_DS029702,"MONDO: A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. | MeSH: A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS."
+BMGC_DS07976,BMG_DS029712,NCI: A rare malignant soft tissue neoplasm that occurs primarily in the pancreas. | MONDO: A rare malignant soft tissue neoplasm that occurs primarily in the pancreas.
+BMGC_DS07977,BMG_DS029713,HPO: A neurofibroma (benign peripheral nerve sheath tumor) localized in the heart. [] | MONDO: A rare neurofibroma that affects the heart.
+BMGC_DS07978,BMG_DS029720,MONDO: A disease caused by infection with Peptostreptococcus.
+BMGC_DS07979,BMG_DS029725,"NCI: An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma. | MONDO: An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma."
+BMGC_DS07980,BMG_DS029726,"NCI: An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures. | MONDO: An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures."
+BMGC_DS07981,BMG_DS029731,"MeSH: Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided."
+BMGC_DS07982,BMG_DS029732,"MONDO: Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive."
+BMGC_DS07983,BMG_DS029733,NCI: A benign or malignant neoplasm that arises in the area of the nipple. | MONDO: A benign or malignant neoplasm that arises in the area of the nipple.
+BMGC_DS07984,BMG_DS029736,
+BMGC_DS07985,BMG_DS029739,NCI: A carcinoma of the larynx that arises from the epiglottis. | MONDO: A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas.
+BMGC_DS07986,BMG_DS029741,NCI: A small round cell tumor with neural differentiation arising from the soft tissues. | MONDO: A small round cell tumor with neural differentiation arising from the soft tissues.
+BMGC_DS07987,BMG_DS029744,"NCI: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells. | MONDO: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells."
+BMGC_DS07988,BMG_DS029745,MONDO: Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues.
+BMGC_DS07989,BMG_DS029747,
+BMGC_DS07990,BMG_DS029748,"ORPHANET: A rare form of autoimmune bullous skin disease characterized by polyformative skin lesions, typically beginning on the oral mucus membranes, and generally associated with lymphoma or chronic lymphoid leukemia. | MONDO: Pemphigus is a group of chronic autoimmune skin diseases characterized by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which paraneoplastic pemphigus is extremely rare."
+BMGC_DS07991,BMG_DS029750,NCI: Gastritis that is associated with the presence of granulomas. | MONDO: Gastritis that is associated with the presence of granulomas.
+BMGC_DS07992,BMG_DS029755,NCI: A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma. | MONDO: A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma.
+BMGC_DS07993,BMG_DS029756,"NCI: A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease. | MONDO: A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%)."
+BMGC_DS07994,BMG_DS029758,MONDO: A benign or malignant neoplasm affecting the spinal cord during childhood.
+BMGC_DS07995,BMG_DS029759,
+BMGC_DS07996,BMG_DS029761,
+BMGC_DS07997,BMG_DS029762,MONDO: Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying. | MeSH: Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying.
+BMGC_DS07998,BMG_DS029764,MONDO: Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling. | MeSH: Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling.
+BMGC_DS07999,BMG_DS029768,
+BMGC_DS08000,BMG_DS029779,"MeSH: A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)"
+BMGC_DS08001,BMG_DS029780,"MeSH: A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)"
+BMGC_DS08002,BMG_DS029781,"MeSH: A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)"
+BMGC_DS08003,BMG_DS029782,"MeSH: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function."
+BMGC_DS08004,BMG_DS029785,"SNOMEDCT_US: Disorder characterized by abnormal proliferation of trophoblasts during pregnancy, of a type which is invasive or metastatic. | MONDO: A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor."
+BMGC_DS08005,BMG_DS029787,"MONDO: A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis."
+BMGC_DS08006,BMG_DS029788,MONDO: A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions). | MeSH: A transmissible spongiform encephalopathy (prion disease) of DEER and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (PRIONS).
+BMGC_DS08007,BMG_DS029789,"MONDO: Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. | MeSH: Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN."
+BMGC_DS08008,BMG_DS029790,
+BMGC_DS08009,BMG_DS029792,MeSH: The condition that results from excessive loss of water from a living organism.
+BMGC_DS08010,BMG_DS029795,"MeSH: A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)"
+BMGC_DS08011,BMG_DS029796,"MeSH: A fulminant infection of the meninges and subarachnoid fluid by the bacterium NEISSERIA MENINGITIDIS, producing diffuse inflammation and peri-meningeal venous thromboses. Clinical manifestations include FEVER, nuchal rigidity, SEIZURES, severe HEADACHE, petechial rash, stupor, focal neurologic deficits, HYDROCEPHALUS, and COMA. The organism is usually transmitted via nasopharyngeal secretions and is a leading cause of meningitis in children and young adults. Organisms from Neisseria meningitidis serogroups A, B, C, Y, and W-135 have been reported to cause meningitis. (From Adams et al., Principles of Neurology, 6th ed, pp689-701; Curr Opin Pediatr 1998 Feb;10(1):13-8)"
+BMGC_DS08012,BMG_DS029797,"MONDO: An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations."
+BMGC_DS08013,BMG_DS029798,"MeSH: Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors."
+BMGC_DS08014,BMG_DS029800,"MeSH: A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading."
+BMGC_DS08015,BMG_DS029801,MeSH: A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.
+BMGC_DS08016,BMG_DS029803,"MONDO: X-linked form of disease. | MeSH: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases."
+BMGC_DS08017,BMG_DS029804,"MONDO: A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
+BMGC_DS08018,BMG_DS029805,"ORPHANET: A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. | MONDO: A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias."
+BMGC_DS08019,BMG_DS029806,
+BMGC_DS08020,BMG_DS029811,
+BMGC_DS08021,BMG_DS029813,MONDO: A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.
+BMGC_DS08022,BMG_DS029823,
+BMGC_DS08023,BMG_DS029830,"MONDO: A disease involving the autonomic nervous system. | MeSH: Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems."
+BMGC_DS08024,BMG_DS029831,"MONDO: The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. | MeSH: Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)"
+BMGC_DS08025,BMG_DS029832,MONDO: A pathological condition characterized by the presence of a number of gastric diverticula in the stomach. | MeSH: A pathological condition characterized by the presence of a number of GASTRIC DIVERTICULA in the STOMACH.
+BMGC_DS08026,BMG_DS029833,"NCI: Dyskeratosis congenita inherited in an X-linked recessive pattern. It is caused by mutations in the DKC1 gene. | MONDO: X-linked form of dyskeratosis congenita. | MeSH: A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin."
+BMGC_DS08027,BMG_DS029834,"MONDO: An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma."
+BMGC_DS08028,BMG_DS029835,NCI: Polyneuropathy that is persistent or long-standing in nature. | MONDO: Polyneuropathy that is persistent or long-standing in nature.
+BMGC_DS08029,BMG_DS029838,"MeSH: Inflammation of the PERICARDIUM from various origins, such as infection, neoplasm, autoimmune process, injuries, or drug-induced. Pericarditis usually leads to PERICARDIAL EFFUSION, or CONSTRICTIVE PERICARDITIS."
+BMGC_DS08030,BMG_DS029840,"NCI: A very rare syndrome characterized by eye abnormalities that lead to vision impairment. These abnormalities include iris atrophy, decreased corneal endothelium, iris nodules, adhesion of the iris to the lens and glaucoma. | MONDO: Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease."
+BMGC_DS08031,BMG_DS029842,"NCI: A rare disease caused by the human papillomavirus (HPV), most commonly types 6 and 11, that affects tissue along the respiratory tract with the majority of cases affecting the larynx. The disease has a bimodal distribution and manifests in those younger than age 5, juvenile-onset recurrent respiratory papillomatosis (JORRP), and those older than age 40, adult-onset recurrent respiratory papillomatosis (AORRP). JORRP is more common and more severe in presentation than AORRP. In a small percentage of patients, respiratory papillomas may undergo malignant transformation to squamous cell carcinomas that have a poor prognosis. | MONDO: Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive."
+BMGC_DS08032,BMG_DS029843,"MONDO: Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology."
+BMGC_DS08033,BMG_DS029847,"SNOMEDCT_US: A highly malignant neoplasm that can occur on the lip, oral cavity, nasal cavity, pharynx, larynx and paranasal sinuses and that accounts for 90% of all head and neck cancers, occurring most frequently in adults between the ages of 40-60. Presents with a variety of manifestations, depending on the primary site, such as voice hoarseness, dysphagia, ulceration of oral mucosa, hearing loss, epistaxis, nasal obstruction and enlargement of a cervical lymph node. Often associated with extensive invasion into surrounding tissues and a rapid metastasis to distant organs. | MONDO: A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands."
+BMGC_DS08034,BMG_DS029850,"MONDO: A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death. | MeSH: A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent."
+BMGC_DS08035,BMG_DS029851,
+BMGC_DS08036,BMG_DS029853,"MeSH: Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years."
+BMGC_DS08037,BMG_DS029854,"MONDO: An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. | MeSH: An imbalanced NUTRITIONAL STATUS resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as OBESITY."
+BMGC_DS08038,BMG_DS029855,"MeSH: Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years."
+BMGC_DS08039,BMG_DS029856,"MeSH: Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in infants ages 1 month to 24 months."
+BMGC_DS08040,BMG_DS029857,MONDO: Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. | MeSH: Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.
+BMGC_DS08041,BMG_DS029858,
+BMGC_DS08042,BMG_DS029859,MeSH: An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization.
+BMGC_DS08043,BMG_DS029860,MeSH: An acute inflammation of the INTESTINAL MUCOSA that is characterized by the presence of pseudomembranes or plaques in the SMALL INTESTINE (pseudomembranous enteritis) and the LARGE INTESTINE (pseudomembranous colitis). It is commonly associated with antibiotic therapy and CLOSTRIDIUM DIFFICILE colonization.
+BMGC_DS08044,BMG_DS029867,NCI: A sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. | MONDO: A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.
+BMGC_DS08045,BMG_DS029869,"MONDO: A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps. | MeSH: The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps)."
+BMGC_DS08046,BMG_DS029870,"NCI: A metabolic disorder characterized by abnormal blood glucose levels. | MONDO: A metabolic disorder characterized by abnormal blood glucose levels. | MeSH: Pathological conditions in which the BLOOD GLUCOSE cannot be maintained within the normal range, such as in HYPOGLYCEMIA and HYPERGLYCEMIA. Etiology of these disorders varies. Plasma glucose concentration is critical to survival for it is the predominant fuel for the CENTRAL NERVOUS SYSTEM."
+BMGC_DS08047,BMG_DS029872,"MeSH: A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS."
+BMGC_DS08048,BMG_DS029873,"MeSH: A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS."
+BMGC_DS08049,BMG_DS029874,"MeSH: A GLUCOSE-induced HYPERINSULINEMIA, a marker of insulin-resistant state. It is a mechanism to compensate for reduced sensitivity to insulin. | MeSH: A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS."
+BMGC_DS08050,BMG_DS029878,"MeSH: A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus."
+BMGC_DS08051,BMG_DS029880,"MONDO: A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. | MeSH: A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability."
+BMGC_DS08052,BMG_DS029881,"MONDO: Decrease in peristalsis in the absence of a mechanical bowel obstruction. | MeSH: A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced."
+BMGC_DS08053,BMG_DS029889,MONDO: Infections with bacteria of the family moraxellaceae. | MeSH: Infections with bacteria of the family MORAXELLACEAE.
+BMGC_DS08054,BMG_DS029890,MONDO: Infections with bacteria of the family moraxellaceae. | MeSH: Infections with bacteria of the family MORAXELLACEAE.
+BMGC_DS08055,BMG_DS029891,"MONDO: A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases. | MeSH: Sarcoma of FOLLICULAR DENDRITIC CELLS most often found in the lymph nodes. This rare neoplasm occurs predominately in adults."
+BMGC_DS08056,BMG_DS029892,"MONDO: A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008) | MeSH: A rare sarcoma of INTERDIGITATING CELLS found in the lymph nodes and non-lymphoid organs. They exhibit a variable immunophenotype and lack Birbeck granules."
+BMGC_DS08057,BMG_DS029893,"MONDO: A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001) | MeSH: Rare malignant neoplasm of dendritic LANGERHANS CELLS exhibiting atypical cytology, frequent mitoses, and aggressive clinical behavior. They can be distinguished from other histiocytic and dendritic proliferations by immunohistochemical and ultrastructure studies. Cytologically benign proliferations of Langerhans cells are called LANGERHANS CELL HISTIOCYTOSIS."
+BMGC_DS08058,BMG_DS029898,
+BMGC_DS08059,BMG_DS029899,
+BMGC_DS08060,BMG_DS029905,MONDO: A disease involving the aortic valve.
+BMGC_DS08061,BMG_DS029920,"MONDO: A congenital aregenerative and often macrocytic anemia with erythroblastopenia. | MeSH: A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)"
+BMGC_DS08062,BMG_DS029923,HPO: Qualitatively abnormal fibrinogen. [https://orcid.org/0000-0003-2945-4463]
+BMGC_DS08063,BMG_DS029925,
+BMGC_DS08064,BMG_DS029928,NCI: Latent syphilis when infection was acquired more than twelve months previously. | MONDO: Latent syphilis when infection was acquired more than twelve months previously.
+BMGC_DS08065,BMG_DS029929,
+BMGC_DS08066,BMG_DS029934,NCI: An adenocarcinoma that arises from eccrine glands.
+BMGC_DS08067,BMG_DS029935,"MONDO: A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient. | MeSH: Benign tumors of fatty tissues found in infancy and childhood. It is associated chromosomal aberrations that result in activation of an oncogene on chromosome band 8q12."
+BMGC_DS08068,BMG_DS029941,"MONDO: Progeria-short stature-pigmented nevi is a progeroid disorder characterized by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat."
+BMGC_DS08069,BMG_DS029945,"ORPHANET: A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation. | MONDO: Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern."
+BMGC_DS08070,BMG_DS029949,
+BMGC_DS08071,BMG_DS029952,NCI: Inflammation of the trigone of the urinary bladder. | MONDO: Inflammation of the trigone of the urinary bladder.
+BMGC_DS08072,BMG_DS029954,"NCI: A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by Actinomycetes bacteria. | MeSH: A chronic progressive subcutaneous infection caused by species of fungi (eumycetoma), or actinomycetes (actinomycetoma). It is characterized by tumefaction, abscesses, and tumor-like granules representing microcolonies of pathogens, such as MADURELLA fungi and bacteria ACTINOMYCETES, with different grain colors."
+BMGC_DS08073,BMG_DS029956,
+BMGC_DS08074,BMG_DS029964,"MONDO: A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. | MeSH: A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant."
+BMGC_DS08075,BMG_DS029967,
+BMGC_DS08076,BMG_DS029970,NCI: Keratitis caused by fungi.
+BMGC_DS08077,BMG_DS029977,"HPO: Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. [PMID:17868858, PMID:23964139] | MONDO: Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall."
+BMGC_DS08078,BMG_DS029982,"MONDO: Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite. | MeSH: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment."
+BMGC_DS08079,BMG_DS030019,"NCI: A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. | MONDO: A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis."
+BMGC_DS08080,BMG_DS030030,
+BMGC_DS08081,BMG_DS030051,"MONDO: A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type. | MeSH: A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)"
+BMGC_DS08082,BMG_DS030060,HPO: An abnormality characterized by disruption of the normal functioning of peripheral axons. [https://orcid.org/0000-0002-0736-9199] | MONDO: Any nerve disorder affecting the axon of a nerve.
+BMGC_DS08083,BMG_DS030061,"NCI: An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the LAMA2 gene. It is characterized by severe hypotonia, muscle weakness, elevated levels of serum creatinine kinase, and white matter abnormalities. | MONDO: Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting."
+BMGC_DS08084,BMG_DS030079,NCI: A primary or metastatic neoplasm that affects the cerebral hemispheres. | MONDO: A neoplasm involving a cerebral hemisphere.
+BMGC_DS08085,BMG_DS030080,MONDO: A neoplasm involving a frontal lobe.
+BMGC_DS08086,BMG_DS030081,MONDO: A neoplasm (disease) that involves the temporal lobe.
+BMGC_DS08087,BMG_DS030082,MONDO: A neoplasm (disease) that involves the parietal lobe.
+BMGC_DS08088,BMG_DS030083,MONDO: A neoplasm involving a occipital lobe.
+BMGC_DS08089,BMG_DS030084,MONDO: A neoplasm involving a cauda equina.
+BMGC_DS08090,BMG_DS030085,NCI: A benign or malignant neoplasm involving the oculomotor nerve. | MONDO: A neoplasm involving a oculomotor nerve.
+BMGC_DS08091,BMG_DS030086,NCI: A benign or malignant neoplasm affecting the trochlear nerve (IVth cranial nerve). | MONDO: A neoplasm involving a trochlear nerve.
+BMGC_DS08092,BMG_DS030087,"NCI: A benign or malignant neoplasm affecting the trigeminal or fifth cranial nerve. Clinical features may include facial pain, sensory loss, and weakness of jaw closure. | MONDO: Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure."
+BMGC_DS08093,BMG_DS030088,MONDO: A neoplasm involving a abducens nerve.
+BMGC_DS08094,BMG_DS030089,MONDO: A neoplasm involving a facial nerve.
+BMGC_DS08095,BMG_DS030090,MONDO: A neoplasm involving a glossopharyngeal nerve.
+BMGC_DS08096,BMG_DS030091,NCI: A benign or malignant neoplasm affecting the vagus nerve (tenth cranial nerve). | MONDO: A neoplasm involving a vagus nerve.
+BMGC_DS08097,BMG_DS030092,MONDO: A neoplasm involving a accessory XI nerve spinal component.
+BMGC_DS08098,BMG_DS030093,MONDO: A neoplasm involving a hypoglossal nerve.
+BMGC_DS08099,BMG_DS030125,
+BMGC_DS08100,BMG_DS030155,MONDO: Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF). | MeSH: A subtype of von Willebrand disease that results from a partial deficiency of VON WILLEBRAND FACTOR.
+BMGC_DS08101,BMG_DS030156,MONDO: Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). | MeSH: A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction.
+BMGC_DS08102,BMG_DS030157,"MONDO: Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). | MeSH: A subtype of von Willebrand disease that results from a total or near total deficiency of VON WILLEBRAND FACTOR."
+BMGC_DS08103,BMG_DS030204,"MONDO: A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas."
+BMGC_DS08104,BMG_DS030205,NCI: A large cell lung carcinoma characterized by the presence of rhabdoid cells. | MONDO: A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells.
+BMGC_DS08105,BMG_DS030206,"NCI: A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading. | MONDO: A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading."
+BMGC_DS08106,BMG_DS030207,"NCI: A papillary urothelial neoplasm that arises from the urinary bladder. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas."
+BMGC_DS08107,BMG_DS030208,"NCI: An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae. | MONDO: An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae."
+BMGC_DS08108,BMG_DS030209,NCI: A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells. | MONDO: A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells.
+BMGC_DS08109,BMG_DS030210,"NCI: A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes. | MONDO: A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes."
+BMGC_DS08110,BMG_DS030211,NCI: An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. | MONDO: An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes.
+BMGC_DS08111,BMG_DS030215,NCI: Multifocal neoplastic proliferations of the glandular epithelium displaying a papillary pattern.
+BMGC_DS08112,BMG_DS030216,"MONDO: Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described."
+BMGC_DS08113,BMG_DS030217,NCI: A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. | MONDO: A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.
+BMGC_DS08114,BMG_DS030218,"NCI: Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor. | MONDO: A carcinoma that arises from epithelial cells of the collecting duct of renal tubule"
+BMGC_DS08115,BMG_DS030219,"NCI: A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. | MONDO: A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients."
+BMGC_DS08116,BMG_DS030220,NCI: An encapsulated or well-circumscribed thyroid gland tumor composed of well-differentiated follicular cells with well-developed or partially developed nuclear features of papillary thyroid carcinoma and with questionable capsular or vascular invasion. This is a tumor indeterminate between follicular adenoma and follicular carcinoma. Tumors in which vascular invasion has been excluded by all means are called non-invasive follicular thyroid neoplasms with papillary-like nuclear features. (WHO) | MONDO: A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign.
+BMGC_DS08117,BMG_DS030222,NCI: An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium. | MONDO: An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium.
+BMGC_DS08118,BMG_DS030224,"NCI: A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs. | MONDO: A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs."
+BMGC_DS08119,BMG_DS030225,"MONDO: A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites. | MeSH: A rare malignant neoplasm of the sweat glands. It most often develops as a form of degenerative progression from a benign ECCRINE POROMA."
+BMGC_DS08120,BMG_DS030226,
+BMGC_DS08121,BMG_DS030227,
+BMGC_DS08122,BMG_DS030228,"NCI: A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis. | MONDO: A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis."
+BMGC_DS08123,BMG_DS030229,
+BMGC_DS08124,BMG_DS030230,"NCI: A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course. | MONDO: A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course."
+BMGC_DS08125,BMG_DS030232,MONDO: A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years.
+BMGC_DS08126,BMG_DS030233,MONDO: A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.
+BMGC_DS08127,BMG_DS030234,"NCI: A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. | MONDO: A type AB thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize."
+BMGC_DS08128,BMG_DS030235,"MONDO: A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors."
+BMGC_DS08129,BMG_DS030236,"MONDO: A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently."
+BMGC_DS08130,BMG_DS030238,NCI: An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. | MONDO: An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.
+BMGC_DS08131,BMG_DS030239,"NCI: A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course. | MONDO: A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course."
+BMGC_DS08132,BMG_DS030240,NCI: A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO) | MONDO: A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)
+BMGC_DS08133,BMG_DS030242,NCI: A meningeal melanoma with secondary diffuse meningeal spread. (WHO) | MONDO: A meningeal melanoma with secondary diffuse meningeal spread. (WHO)
+BMGC_DS08134,BMG_DS030243,"MONDO: Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia). | MeSH: Rare neoplasms of mesenchymal origin, usually benign, and most commonly involving the PLEURA (see SOLITARY FIBROUS TUMOR, PLEURAL). They also are found in extrapleural sites."
+BMGC_DS08135,BMG_DS030244,"NCI: A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. | MONDO: A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma."
+BMGC_DS08136,BMG_DS030246,"ORPHANET: A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare. | MONDO: A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare."
+BMGC_DS08137,BMG_DS030247,NCI: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. | MONDO: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.
+BMGC_DS08138,BMG_DS030249,NCI: A liposarcoma characterized by the presence of a fibroblastic component. | MONDO: A liposarcoma characterized by the presence of a fibroblastic component.
+BMGC_DS08139,BMG_DS030250,NCI: A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females. | MONDO: A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females.
+BMGC_DS08140,BMG_DS030251,MONDO: An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.
+BMGC_DS08141,BMG_DS030254,"NCI: A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. | MONDO: A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells."
+BMGC_DS08142,BMG_DS030255,"HPO: A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. [https://orcid.org/0009-0006-4530-3154] | MONDO: A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas."
+BMGC_DS08143,BMG_DS030257,ORPHANET: A rare gestational trophoblastic neoplasmcharacterized histologically by invasion of the myometrium and/or cervix uteri by regular epithelioid cells of chorion laeve type intermediate trophoblasts which clusters in a hyaline stroma. The disease generally occurs several years after pregnancy and indicative signs are irregular metrorrhagia and moderate increases in chorionic gonadotropin levels. | MONDO: An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.
+BMGC_DS08144,BMG_DS030258,NCI: A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. | MONDO: A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.
+BMGC_DS08145,BMG_DS030259,
+BMGC_DS08146,BMG_DS030260,"MONDO: A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones. | MeSH: A chondrosarcoma of adolescence to old age of the proximal EPIPHYSES of long bones. It has variably clear cytoplasm of the mostly neoplastic CHONDROCYTES with little intervening matrix."
+BMGC_DS08147,BMG_DS030261,"NCI: An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well. | MONDO: An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well."
+BMGC_DS08148,BMG_DS030262,"NCI: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage. | MONDO: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage."
+BMGC_DS08149,BMG_DS030263,"NCI: A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities. | MONDO: A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities."
+BMGC_DS08150,BMG_DS030265,"HPO: Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found [https://orcid.org/0000-0002-1735-8178, PMID:25408925, PMID:26493957] | MONDO: A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B"
+BMGC_DS08151,BMG_DS030266,"NCI: An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma). | MONDO: An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma)."
+BMGC_DS08152,BMG_DS030267,NCI: A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma. | MONDO: A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma.
+BMGC_DS08153,BMG_DS030268,"ORPHANET: A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children. | MONDO: Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children."
+BMGC_DS08154,BMG_DS030269,"NCI: A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate. | MONDO: A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate."
+BMGC_DS08155,BMG_DS030270,"NCI: A subtype of classic Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008) | MONDO: A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008)"
+BMGC_DS08156,BMG_DS030289,"NCI: Thrombotic thrombocytopenic purpura for which the cause is present from birth. | MONDO: Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. | MeSH: An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases."
+BMGC_DS08157,BMG_DS030293,MONDO: An episode of depression lasting two or more weeks without an intervening episode of mania.
+BMGC_DS08158,BMG_DS030317,"HPO: A malposition of the pupil owing to a developmental defect of the iris. [https://orcid.org/0000-0001-8727-6592, https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS08159,BMG_DS030318,"NCI: Condition where iris pigment is released into the anterior chamber and deposited in the trabecular meshwork, due to a procedure or device implantation. | MONDO: Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed."
+BMGC_DS08160,BMG_DS030347,NCI: An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases). | MONDO: An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases).
+BMGC_DS08161,BMG_DS030348,"HPO: Abnormal function of the left ventricule during left ventricular relaxation and filling. [PMID:12527689, PMID:14594874]"
+BMGC_DS08162,BMG_DS030354,MONDO: A disease caused by infection with Talaromyces marneffei.
+BMGC_DS08163,BMG_DS030376,"ORPHANET: A rare autoimmune bullous skin disease characterized by painful and pruritic vesiculopustular eruptions resulting from circulating IgA antibodies against keratinocyte cell surface components. The lesions are typically found at the periphery of erythematous annular plaques and favor intertriginous regions. Histologically and immunologically, IgA pemphigus can be subdivided into subcorneal pustular dermatosis and intraepidermal neutrophilic IgA dermatosis."
+BMGC_DS08164,BMG_DS030392,"SNOMEDCT_US: Artefactual skin disease with intentional deception. | MONDO: A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin."
+BMGC_DS08165,BMG_DS030404,MONDO: Autosomal recessive form of inherited ichthyosis.
+BMGC_DS08166,BMG_DS030405,
+BMGC_DS08167,BMG_DS030413,
+BMGC_DS08168,BMG_DS030417,NCI: A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. | MONDO: A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.
+BMGC_DS08169,BMG_DS030474,"HPO: Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. []"
+BMGC_DS08170,BMG_DS030476,"HPO: Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks. [PMID:27532832]"
+BMGC_DS08171,BMG_DS030506,
+BMGC_DS08172,BMG_DS030548,MeSH: Infections with bacteria of the genus NOCARDIA.
+BMGC_DS08173,BMG_DS030613,
+BMGC_DS08174,BMG_DS030691,
+BMGC_DS08175,BMG_DS030774,
+BMGC_DS08176,BMG_DS030799,HPO: An abnormally increased perspiration on palms and soles. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS08177,BMG_DS030839,"MONDO: A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency."
+BMGC_DS08178,BMG_DS030845,"ORPHANET: A rare, genetic, immune deficiency with skin involvement characterized by clinical triad of non-scarring alopecia affecting mainly the scalp, well-demarcated mucosal erythema and psoriasiform erythematous intertriginous plaques. Follicular keratosis, keratoconjuctivitis, cataracts, angular cheilitis, fissured tongue, and recurrent infections are additional clinical features. Histopathology of mucosal lesions show characteristic findings of dyskeratotic keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number of desmosomes. | MONDO: A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition."
+BMGC_DS08179,BMG_DS030870,"ORPHANET: A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system)."
+BMGC_DS08180,BMG_DS030923,"MeSH: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis."
+BMGC_DS08181,BMG_DS030972,
+BMGC_DS08182,BMG_DS031016,"MONDO: An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation."
+BMGC_DS08183,BMG_DS031017,"MONDO: An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections."
+BMGC_DS08184,BMG_DS031018,"MONDO: Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability."
+BMGC_DS08185,BMG_DS031020,"ORPHANET: A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988. | MONDO: Hereditary neurocutaneous angioma is characterized by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral hemorrhage, and focal neurological deficit. Transmission is autosomal dominant."
+BMGC_DS08186,BMG_DS031023,"ORPHANET: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. | MONDO: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked."
+BMGC_DS08187,BMG_DS031024,
+BMGC_DS08188,BMG_DS031038,
+BMGC_DS08189,BMG_DS031046,"ORPHANET: A rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which from adolescence or early adulthood are primarily confined to flexural skin sites. | MONDO: Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area."
+BMGC_DS08190,BMG_DS031047,"ORPHANET: A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus. | MONDO: Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus."
+BMGC_DS08191,BMG_DS031049,MONDO: An autosomal recessive form of PXE.
+BMGC_DS08192,BMG_DS031051,
+BMGC_DS08193,BMG_DS031054,"ORPHANET: Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term). | MONDO: A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis."
+BMGC_DS08194,BMG_DS031071,"MONDO: An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei."
+BMGC_DS08195,BMG_DS031072,NCI: A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells. | MONDO: A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells.
+BMGC_DS08196,BMG_DS031078,NCI: An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm. | MONDO: An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.
+BMGC_DS08197,BMG_DS031080,NCI: A rare neurofibroma with epithelioid morphology. | MONDO: A rare neurofibroma with epithelioid morphology.
+BMGC_DS08198,BMG_DS031081,"MONDO: Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. | MeSH: A rare autosomal disorder characterized by numerous encapsulated lipomas on the trunk and extremities. The lipomas are usually not painful but can cause pain when growing. In rare cases, one lipoma can become painful and progress to multiple painful lipomas; it is then referred to as Dercum's Disease Type III"
+BMGC_DS08199,BMG_DS031082,"NCI: A benign adipocytic neoplasm, characterized by ill-defined tumor margins and the presence of variable proportions of mild to moderately atypical spindle cells, adipocytes, lipoblasts, pleomorphic cells, multinucleated giant cells, and a myxoid or collagenous extracellular matrix. It has a low tendency for local recurrence if incompletely excised. Unlike conventional atypical lipomatous tumors, there is no risk for dedifferentiation. (WHO 2020) | MONDO: A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma."
+BMGC_DS08200,BMG_DS031084,"NCI: A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs. | MONDO: A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs."
+BMGC_DS08201,BMG_DS031085,NCI: A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage.
+BMGC_DS08202,BMG_DS031134,NCI: An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid. | MONDO: An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.
+BMGC_DS08203,BMG_DS031135,NCI: A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course. | MONDO: A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course.
+BMGC_DS08204,BMG_DS031136,"HPO: A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. [https://orcid.org/0000-0003-0986-4123]"
+BMGC_DS08205,BMG_DS031137,"ORPHANET: Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. | MONDO: Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment."
+BMGC_DS08206,BMG_DS031139,
+BMGC_DS08207,BMG_DS031143,NCI: A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities.
+BMGC_DS08208,BMG_DS031160,"HPO: Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). [https://orcid.org/0000-0002-0736-9199] | MONDO: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene."
+BMGC_DS08209,BMG_DS031175,
+BMGC_DS08210,BMG_DS031228,"MONDO: A disease caused by infection with Erysipelothrix rhusiopathiae. | MeSH: An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis."
+BMGC_DS08211,BMG_DS031257,
+BMGC_DS08212,BMG_DS031259,
+BMGC_DS08213,BMG_DS031262,
+BMGC_DS08214,BMG_DS031290,HPO: Episodes of muscle weakness. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS08215,BMG_DS031293,"MONDO: Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. | MeSH: Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified."
+BMGC_DS08216,BMG_DS031299,"HPO: Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. [PMID:22435879, PMID:29861637] | MONDO: A dermatophytosis that involves the deep dermal layers."
+BMGC_DS08217,BMG_DS031304,
+BMGC_DS08218,BMG_DS031310,HPO: Localized loss of fat tissue. [https://orcid.org/0009-0006-4530-3154]
+BMGC_DS08219,BMG_DS031312,"MONDO: A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils. | MeSH: Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL. | MeSH: Nonfilarial, noninfective, usually crystalline blockage of the limb lymphatics, almost always affecting the lower limbs and especially the feet."
+BMGC_DS08220,BMG_DS031319,
+BMGC_DS08221,BMG_DS031322,"NCI: A rare autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor (VWF) by the platelet glycoprotein Ib receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. It is due to a mutation in the gene encoding for platelet glycoprotein Ib alpha, resulting in enhanced affinity for VWF. It is often misdiagnosed as type 2B von Willebrand disease due to similarities between these two conditions. Patients present with a mild thrombocytopenia with large platelets. Platelet aggregates are often visible in blood smears. | MONDO: A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia."
+BMGC_DS08222,BMG_DS031411,"NCI: A chronic autoimmune disorder that belongs to the mucous membrane pemphigoid disorders. It is characterized by bilateral scarring and opacification of the conjunctivae. It presents with pain and burning sensation in the eyes and photophobia. It leads to blindness. | MONDO: Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. | MeSH: A chronic blistering disease with predilection for mucous membranes and less frequently the skin, and with a tendency to scarring. It is sometimes called ocular pemphigoid because of conjunctival mucous membrane involvement."
+BMGC_DS08223,BMG_DS031422,
+BMGC_DS08224,BMG_DS031441,"NCI: Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. | MONDO: Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone."
+BMGC_DS08225,BMG_DS031448,NCI: An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2'). | MONDO: Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. | MeSH: A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction.
+BMGC_DS08226,BMG_DS031449,"NCI: An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows increased affinity to platelet glycoprotein Ib alpha, resulting in increased platelet aggregation, and increased proteolysis of VWF subunits causing a decrease of large VWF multimers; patients often have secondary thrombocytopenia due to platelet consumption. | MONDO: A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. | MeSH: A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction."
+BMGC_DS08227,BMG_DS031451,NCI: An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium. | MONDO: A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers.
+BMGC_DS08228,BMG_DS031452,"NCI: An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF. | MONDO: Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII). | MeSH: A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction."
+BMGC_DS08229,BMG_DS031464,
+BMGC_DS08230,BMG_DS031474,"MONDO: Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency."
+BMGC_DS08231,BMG_DS031494,"MONDO: A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose."
+BMGC_DS08232,BMG_DS031527,NCI: A disorder characterized by the progressive loss of function and/or structure of the affected tissues.
+BMGC_DS08233,BMG_DS031540,"MeSH: Disorders caused by nutritional imbalance, either overnutrition or undernutrition, in the FETUS in utero."
+BMGC_DS08234,BMG_DS031543,HPO: Accumulation of fluid in the peritoneal cavity during the fetal period. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS08235,BMG_DS031599,MONDO: A peripheral nerve lesion that involves the ulnar nerve.
+BMGC_DS08236,BMG_DS031601,
+BMGC_DS08237,BMG_DS031662,
+BMGC_DS08238,BMG_DS031681,
+BMGC_DS08239,BMG_DS031732,NCI: A benign or malignant neoplasm that affects the sternum. | MONDO: A benign or malignant neoplasm that affects the sternum.
+BMGC_DS08240,BMG_DS031751,"HPO: Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. [https://orcid.org/0000-0003-0113-912X, PMID:30085516] | MONDO: Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia."
+BMGC_DS08241,BMG_DS031753,NCI: A benign or malignant neoplasm that affects the epiglottis. | MONDO: A benign or malignant neoplasm that affects the epiglottis.
+BMGC_DS08242,BMG_DS031754,NCI: A benign or malignant neoplasm that arises from the hilar region of the lung. | MONDO: A benign or malignant neoplasm that arises from the hilar region of the lung.
+BMGC_DS08243,BMG_DS031755,
+BMGC_DS08244,BMG_DS031760,
+BMGC_DS08245,BMG_DS031775,NCI: A benign or malignant neoplasm that affects the endocardium. | MONDO: A neoplasm (disease) that involves the endocardium.
+BMGC_DS08246,BMG_DS031776,NCI: A benign or malignant neoplasm that affects the myocardium. | MONDO: A neoplasm (disease) that involves the myocardium.
+BMGC_DS08247,BMG_DS031777,NCI: A benign or malignant neoplasm that affects the inner layer of the pericardium. | MONDO: A neoplasm (disease) that involves the epicardium.
+BMGC_DS08248,BMG_DS031778,NCI: A neoplasm involving a great vessel.
+BMGC_DS08249,BMG_DS032021,
+BMGC_DS08250,BMG_DS032036,"MONDO: A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility."
+BMGC_DS08251,BMG_DS032090,"NCI: Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. | MONDO: Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase."
+BMGC_DS08252,BMG_DS032120,"ORPHANET: Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. | MONDO: Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities."
+BMGC_DS08253,BMG_DS032162,"ORPHANET: A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear."
+BMGC_DS08254,BMG_DS032175,
+BMGC_DS08255,BMG_DS032190,
+BMGC_DS08256,BMG_DS032249,"ORPHANET: 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term). | MONDO: 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome."
+BMGC_DS08257,BMG_DS032275,"NCI: An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency. | MONDO: An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency."
+BMGC_DS08258,BMG_DS032297,"ORPHANET: Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). | MONDO: Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)."
+BMGC_DS08259,BMG_DS032344,
+BMGC_DS08260,BMG_DS032347,"NCI: An autosomal recessive condition caused by mutation(s) in the DDC gene, encoding aromatic-L-amino-acid decarboxylase. It is characterized by combined serotonin and catecholamine deficiency, resulting in severe neurologic dysfunction usually beginning in infancy or childhood. | MONDO: Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction."
+BMGC_DS08261,BMG_DS032389,
+BMGC_DS08262,BMG_DS032391,"ORPHANET: Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy. | MONDO: Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy."
+BMGC_DS08263,BMG_DS032402,"NCI: A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. | MONDO: A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly."
+BMGC_DS08264,BMG_DS032437,"MONDO: A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)"
+BMGC_DS08265,BMG_DS032438,"NCI: The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001) | MONDO: The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001)"
+BMGC_DS08266,BMG_DS032440,"MONDO: A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001) | MeSH: A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL)."
+BMGC_DS08267,BMG_DS032441,NCI: An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia. | MONDO: An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia.
+BMGC_DS08268,BMG_DS032442,"ORPHANET: A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count."
+BMGC_DS08269,BMG_DS032443,"ORPHANET: A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss. | MONDO: An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation."
+BMGC_DS08270,BMG_DS032444,"NCI: Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. | MONDO: An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001)"
+BMGC_DS08271,BMG_DS032445,"ORPHANET: An extremely rare and highly aggressive neoplasm, usually manifesting in the third to fourth decade of life, affecting males and females equally, and characterized by the onset of high fever, weight loss, jaundice, skin infiltration, lymphadenopathy, hepatosplenomegaly, and severe anemia. It has a fulminant and rapidly fatal disease course with the progressive appearance of multiorgan failure and disseminated intravascular coagulation. | MONDO: A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen."
+BMGC_DS08272,BMG_DS032446,"NCI: A group of myeloid neoplasms that includes the following: chronic myeloid leukemia, BCR-ABL1 positive; polycythemia vera; essential thrombocythemia; primary myelofibrosis; chronic neutrophilic leukemia; chronic eosinophilic leukemia, not otherwise specified; and myeloproliferative neoplasm, unclassifiable. | MONDO: A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)"
+BMGC_DS08273,BMG_DS032453,MeSH: Excretion of an excessive amount of OXALATES in the urine.
+BMGC_DS08274,BMG_DS032456,"MONDO: Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees."
+BMGC_DS08275,BMG_DS032604,MONDO: A carcinoma that arises from epithelial cells of the endocervix.
+BMGC_DS08276,BMG_DS032605,NCI: A carcinoma that arises from the squamous epithelium of the exocervix. | MONDO: A carcinoma that arises from the squamous epithelium of the exocervix.
+BMGC_DS08277,BMG_DS032606,NCI: A carcinoma of the larynx that arises from the subglottic area. | MONDO: A carcinoma of the larynx that arises from the subglottic area.
+BMGC_DS08278,BMG_DS032607,NCI: A carcinoma of the larynx that arises from the supraglottic area. | MONDO: A carcinoma of the larynx that arises from the supraglottic area.
+BMGC_DS08279,BMG_DS032608,
+BMGC_DS08280,BMG_DS032610,"MeSH: Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause."
+BMGC_DS08281,BMG_DS032638,
+BMGC_DS08282,BMG_DS032650,"MONDO: A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart. | MeSH: A syndrome of ORTHOSTATIC INTOLERANCE combined with excessive upright TACHYCARDIA, and usually without associated ORTHOSTATIC HYPOTENSION. All variants have in common an excessively reduced venous return to the heart (central HYPOVOLEMIA) while upright."
+BMGC_DS08283,BMG_DS032661,
+BMGC_DS08284,BMG_DS032676,
+BMGC_DS08285,BMG_DS032717,"MONDO: A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. | MeSH: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002)."
+BMGC_DS08286,BMG_DS032718,
+BMGC_DS08287,BMG_DS032724,
+BMGC_DS08288,BMG_DS032731,NCI: Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. | MONDO: Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
+BMGC_DS08289,BMG_DS032732,"MONDO: A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation."
+BMGC_DS08290,BMG_DS032738,
+BMGC_DS08291,BMG_DS032743,"MONDO: A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1."
+BMGC_DS08292,BMG_DS032744,NCI: Hyperparathyroidism in an infant less than one month a=of age that resolves spontaneously.
+BMGC_DS08293,BMG_DS032749,NCI: An adenomyoma characterized by the presence of marked glandular architectural complexity. | MONDO: An adenomyoma characterized by the presence of marked glandular architectural complexity.
+BMGC_DS08294,BMG_DS032752,"MONDO: A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells."
+BMGC_DS08295,BMG_DS032757,MONDO: A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites.
+BMGC_DS08296,BMG_DS032764,"NCI: A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis. | MONDO: A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis."
+BMGC_DS08297,BMG_DS032766,MONDO: A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation. | MeSH: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.
+BMGC_DS08298,BMG_DS032767,"NCI: An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001) | MONDO: An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)"
+BMGC_DS08299,BMG_DS032769,MONDO: Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features. | MeSH: Anaplastic lymphoma of the skin which develops as a primary neoplasm expressing the CD30 ANTIGEN. It is characterized by solitary nodules or ulcerated tumors.
+BMGC_DS08300,BMG_DS032770,"NCI: A clinically aggressive neoplasm derived from the precursors of plasmacytoid dendritic cells (also called professional type I interferon-producing cells or plasmacytoid monocytes), with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. (WHO 2017) | MONDO: An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement."
+BMGC_DS08301,BMG_DS032771,NCI: A dendritic cell neoplasm that does not fall into well-defined categories or shows hybrid features. | MONDO: A sarcoma that involves the dendritic cell.
+BMGC_DS08302,BMG_DS032772,MONDO: Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).
+BMGC_DS08303,BMG_DS032782,"HPO: Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. [PMID:28779882]"
+BMGC_DS08304,BMG_DS032784,
+BMGC_DS08305,BMG_DS032795,
+BMGC_DS08306,BMG_DS032821,"NCI: An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. | MONDO: An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis."
+BMGC_DS08307,BMG_DS032825,NCI: An invasive prostate carcinoma characterized by the presence of malignant cells with squamous differentiation. There is no evidence of glandular differentiation. | MONDO: An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation.
+BMGC_DS08308,BMG_DS032827,"NCI: An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood. | MONDO: An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood."
+BMGC_DS08309,BMG_DS032828,NCI: A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer. | MONDO: A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.
+BMGC_DS08310,BMG_DS032844,
+BMGC_DS08311,BMG_DS032873,"ORPHANET: A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma."
+BMGC_DS08312,BMG_DS032887,"HPO: Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS08313,BMG_DS032896,"HPO: Abnormal (non-physiological) constriction of the pupil of congenital onset. [https://orcid.org/0000-0002-0736-9199] | MONDO: Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma."
+BMGC_DS08314,BMG_DS032899,"ORPHANET: A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth. | MONDO: Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now."
+BMGC_DS08315,BMG_DS032905,
+BMGC_DS08316,BMG_DS033048,
+BMGC_DS08317,BMG_DS033060,MONDO: An autoimmune form of urticaria (disease). | MeSH: Wheals (urticaria) and/or angioedema presented with daily symptoms lasting for more than 6 weeks. It may be classified into chronic spontaneous and chronic inducible urticaria depending on whether a specific trigger can be linked to the development of vascular reaction.
+BMGC_DS08318,BMG_DS033062,MeSH: Wheals (urticaria) and/or angioedema presented with daily symptoms lasting for more than 6 weeks. It may be classified into chronic spontaneous and chronic inducible urticaria depending on whether a specific trigger can be linked to the development of vascular reaction.
+BMGC_DS08319,BMG_DS033105,"ORPHANET: A rare primary cutaneous amyloidosis characterized by familial occurrence of lichen and/or macular amyloidosis due to fibrillary degeneration and apoptosis of basal keratinocytes, followed by conversion of filamentous masses into amyloid material in the papillary dermis. Patients typically present with a pruritic eruption of grouped hyperkeratotic papules, which may coalesce to form hyperkeratotic plaques, with a predilection for the lower limbs (lichen amyloidosis), or with hyperpigmented macules, sometimes with a reticulate pattern, most commonly arising on the back, chest or interscapular areas (macular amyloidosis)."
+BMGC_DS08320,BMG_DS033124,NCI: A rare but aggressive type of basal skin carcinoma. It is characterized by the presence of a meshwork of stellate tumor cells. It occurs most commonly in the nose and ears.
+BMGC_DS08321,BMG_DS033127,NCI: A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated.
+BMGC_DS08322,BMG_DS033271,"ORPHANET: A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed. | MONDO: Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism."
+BMGC_DS08323,BMG_DS033276,"MONDO: Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis."
+BMGC_DS08324,BMG_DS033277,NCI: A glomus tumor arising in the finger and usually associated with pain. | MONDO: A glomus tumor arising in the finger and usually associated with pain.
+BMGC_DS08325,BMG_DS033278,"HPO: A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli. [PMID:23716835]"
+BMGC_DS08326,BMG_DS033281,"NCI: A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative. | MONDO: A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative."
+BMGC_DS08327,BMG_DS033289,"NCI: Evidence of thoracoabdominal aortic aneurysm, ruptured."
+BMGC_DS08328,BMG_DS033292,NCI: An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue. | MONDO: An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue.
+BMGC_DS08329,BMG_DS033296,
+BMGC_DS08330,BMG_DS033298,
+BMGC_DS08331,BMG_DS033302,
+BMGC_DS08332,BMG_DS033321,
+BMGC_DS08333,BMG_DS033324,ORPHANET: Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. | MONDO: Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.
+BMGC_DS08334,BMG_DS033328,"MONDO: An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion."
+BMGC_DS08335,BMG_DS033333,"NCI: A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients. | MONDO: A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients."
+BMGC_DS08336,BMG_DS033338,
+BMGC_DS08337,BMG_DS033339,MONDO: Chronic form of venous insufficiency (disease).
+BMGC_DS08338,BMG_DS033341,NCI: A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.
+BMGC_DS08339,BMG_DS033344,"NCI: A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes."
+BMGC_DS08340,BMG_DS033345,"NCI: An autosomal recessive subtype of congenital dyserythropoietic anemia caused by mutation(s) in the SEC23B gene, encoding protein transport protein Sec23B. | MONDO: Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones."
+BMGC_DS08341,BMG_DS033357,"NCI: Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. | MONDO: Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. | MeSH: A disease caused by potent protein NEUROTOXINS produced by CLOSTRIDIUM BOTULINUM which interfere with the presynaptic release of ACETYLCHOLINE at the NEUROMUSCULAR JUNCTION. Clinical features include abdominal pain, vomiting, acute PARALYSIS (including respiratory paralysis), blurred vision, and DIPLOPIA. Botulism may be classified into several subtypes (e.g., food-borne, infant, wound, and others). (From Adams et al., Principles of Neurology, 6th ed, p1208)"
+BMGC_DS08342,BMG_DS033362,NCI: Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function. | MONDO: Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function.
+BMGC_DS08343,BMG_DS033364,
+BMGC_DS08344,BMG_DS033365,"HPO: The presence of renal cell carcinoma in the renal papilla. [https://orcid.org/0000-0002-0736-9199] | MONDO: A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma."
+BMGC_DS08345,BMG_DS033366,
+BMGC_DS08346,BMG_DS033375,"NCI: Disorder caused by the occlusion of the lumen of the peripheral arteries. Causes include atherosclerosis, inflammatory processes, thrombosis, and embolism. The arterial occlusion results in chronic or acute pain usually in the lower limbs due to muscle ischemia."
+BMGC_DS08347,BMG_DS033377,
+BMGC_DS08348,BMG_DS033380,"MONDO: A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein."
+BMGC_DS08349,BMG_DS033383,NCI: Acute inflammation of the conjunctiva characterized by pink or red color in the eyes. | MONDO: Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.
+BMGC_DS08350,BMG_DS033386,
+BMGC_DS08351,BMG_DS033388,MONDO: An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy.
+BMGC_DS08352,BMG_DS033398,NCI: A rare condition that involves inflammation and necrosis of the walls of the blood vessels; may occur in rheumatoid arthritis. | MONDO: A type of vasculitis that is comprised of vasculitides that present with necrosis.
+BMGC_DS08353,BMG_DS033400,MONDO: Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia).
+BMGC_DS08354,BMG_DS033401,"NCI: A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse. | MONDO: A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse."
+BMGC_DS08355,BMG_DS033403,"ORPHANET: A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months. | MONDO: A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO)"
+BMGC_DS08356,BMG_DS033405,"NCI: A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion."
+BMGC_DS08357,BMG_DS033406,
+BMGC_DS08358,BMG_DS033417,NCI: An infectious process in which the bacteria Staphylococcus aureus is present. | MONDO: An infectious process in which the bacteria Staphylococcus aureus is present.
+BMGC_DS08359,BMG_DS033442,"HPO: A malignant epithelial tumor with a glandular organization that originates in the large intestine. [] | MONDO: The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma."
+BMGC_DS08360,BMG_DS033443,NCI: A squamous cell carcinoma that arises from the pharynx. | MONDO: A squamous cell carcinoma that arises from the pharynx.
+BMGC_DS08361,BMG_DS033448,"ORPHANET: Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. | MONDO: Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia."
+BMGC_DS08362,BMG_DS033453,"MeSH: Asthmatic adverse reaction (e.g., BRONCHOCONSTRICTION) to conventional NSAIDS including aspirin use."
+BMGC_DS08363,BMG_DS033476,
+BMGC_DS08364,BMG_DS033518,"NCI: A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. | MONDO: A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present."
+BMGC_DS08365,BMG_DS033520,
+BMGC_DS08366,BMG_DS033523,NCI: Degeneration of the peripheral retina. | MONDO: Degeneration of the peripheral retina.
+BMGC_DS08367,BMG_DS033538,"MeSH: Extensive and rapid death of parenchymal cells in the LIVER, often due to exposure to toxic materials or drug-induced injury. It is characterized by a soft, flabby, yellow-brown wrinkled, and shrunken liver. It was called acute yellow atrophy."
+BMGC_DS08368,BMG_DS033551,
+BMGC_DS08369,BMG_DS033555,"NCI: A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. | MONDO: A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable."
+BMGC_DS08370,BMG_DS033578,NCI: A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells. | MONDO: A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.
+BMGC_DS08371,BMG_DS033589,
+BMGC_DS08372,BMG_DS033591,"MONDO: Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma. | MeSH: A form of LYNCH SYNDROME II associated with cutaneous SEBACEOUS GLAND NEOPLASMS. Muir-Torre syndrome is also associated with other visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal neoplasms."
+BMGC_DS08373,BMG_DS033595,
+BMGC_DS08374,BMG_DS033599,"MONDO: Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability."
+BMGC_DS08375,BMG_DS033604,"NCI: A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes. | MONDO: A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes."
+BMGC_DS08376,BMG_DS033605,NCI: A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies. | MONDO: A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.
+BMGC_DS08377,BMG_DS033609,
+BMGC_DS08378,BMG_DS033611,NCI: An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location. | MONDO: An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.
+BMGC_DS08379,BMG_DS033612,NCI: Retinoblastoma during childhood that has not spread beyond the eye. | MONDO: Retinoblastoma during childhood that has not spread beyond the eye.
+BMGC_DS08380,BMG_DS033613,NCI: Retinoblastoma during childhood that has spread beyond the eye. | MONDO: Retinoblastoma during childhood that has spread beyond the eye.
+BMGC_DS08381,BMG_DS033616,NCI: A malignant neoplasm that affects the sweat glands. | MONDO: A malignant neoplasm that affects the sweat glands.
+BMGC_DS08382,BMG_DS033619,"SNOMEDCT_US: An extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity. | MONDO: A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates."
+BMGC_DS08383,BMG_DS033622,"NCI: A thymoma that has an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. Although any morphologic subtype of thymoma may eventually have a malignant clinical course, this term is most often associated with thymoma types B3 and C."
+BMGC_DS08384,BMG_DS033624,NCI: A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area. | MONDO: A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.
+BMGC_DS08385,BMG_DS033625,"NCI: A rare, autosomal recessive inherited disorder caused by mutation in the c-Mpl gene. It is characterized by thrombocytopenia and absence of megakaryocytes. It presents with bleeding in the first month of life."
+BMGC_DS08386,BMG_DS033626,"SNOMEDCT_US: A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications. | MONDO: Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications."
+BMGC_DS08387,BMG_DS033628,"SNOMEDCT_US: A very rare genetic malformation syndrome with characteristics of upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances and congenital bilateral non-progressive mixed hearing loss. Prevalence is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor. Inherited in an autosomal dominant manner. | MONDO: IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss."
+BMGC_DS08388,BMG_DS033629,"SNOMEDCT_US: Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern. | MONDO: A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia."
+BMGC_DS08389,BMG_DS033630,"MONDO: An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma."
+BMGC_DS08390,BMG_DS033632,"MONDO: The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust. | MeSH: A disease characterized by the chronic, progressive spread of lesions from New World cutaneous leishmaniasis caused by species of the L. braziliensis complex to the nasal, pharyngeal, and buccal mucosa some time after the appearance of the initial cutaneous lesion. Nasal obstruction and epistaxis are frequent presenting symptoms."
+BMGC_DS08391,BMG_DS033635,"ORPHANET: A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. | MONDO: A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy."
+BMGC_DS08392,BMG_DS033636,"SNOMEDCT_US: LOC syndrome is a subtype of junctional epidermolysis bullosa with characteristics of an altered cry in the neonatal period and aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India. The condition is present at birth. The condition is associated with mutations in the alpha-3 chain of laminin-332 (LAMA3). Follows an autosomal recessive pattern of inheritance. Prognosis is poor. | MONDO: LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites."
+BMGC_DS08393,BMG_DS033638,"HPO: A benign, well circumscribed neoplasm that arises from the breast. [] | MONDO: A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma."
+BMGC_DS08394,BMG_DS033641,"MONDO: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. | MeSH: A primary malignant neoplasm of the pancreatic ISLET CELLS. Usually it involves the non-INSULIN-producing cell types, the PANCREATIC ALPHA CELLS and the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS) in GLUCAGONOMA and SOMATOSTATINOMA, respectively."
+BMGC_DS08395,BMG_DS033643,NCI: Prostate carcinoma that grows and continues to spread despite the surgical removal of the testes or medical intervention to block androgen production. | MONDO: A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.
+BMGC_DS08396,BMG_DS033644,NCI: An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium. | MONDO: An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium.
+BMGC_DS08397,BMG_DS033645,
+BMGC_DS08398,BMG_DS033646,"MONDO: Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. | MeSH: Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY."
+BMGC_DS08399,BMG_DS033651,"NCI: An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary. | MONDO: An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary."
+BMGC_DS08400,BMG_DS033652,NCI: A rare adenoma that arises from the intrahepatic biliary tree. | MONDO: A rare adenoma that arises from the intrahepatic biliary tree.
+BMGC_DS08401,BMG_DS033654,NCI: The developmental arrest and architectural distortion of the thymus that results in immunodeficiency. | MONDO: The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.
+BMGC_DS08402,BMG_DS033657,NCI: A melanoma arising from the scrotum. | MONDO: A melanoma (disease) that involves the scrotum.
+BMGC_DS08403,BMG_DS033660,"NCI: A T-cell peripheral lymphoma composed of usually large, pleomorphic, CD30 positive T-lymphocytes with abundant cytoplasm. It is characterized by the presence of a translocation involving the ALK gene and expression of ALK fusion protein. Most patients present with peripheral and/or abdominal lymphadenopathy, and often have advanced disease and extranodal involvement. | MONDO: ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK)."
+BMGC_DS08404,BMG_DS033661,"NCI: A syndrome which occurs following withdrawal of an abused substance. Clinical signs vary depending on the substance that was abused and may include irritability, trembling and vomiting. The clinical course depends on the ability to manage the withdrawal symptoms."
+BMGC_DS08405,BMG_DS033662,"NCI: A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. | MONDO: A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet."
+BMGC_DS08406,BMG_DS033663,NCI: A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05) | MONDO: A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)
+BMGC_DS08407,BMG_DS033664,"NCI: An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants. | MONDO: An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants."
+BMGC_DS08408,BMG_DS033665,
+BMGC_DS08409,BMG_DS033666,NCI: Acute encephalitis that is characterized by bleeding. | MONDO: Acute encephalitis that is characterized by bleeding.
+BMGC_DS08410,BMG_DS033669,"NCI: An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. | MONDO: An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent."
+BMGC_DS08411,BMG_DS033670,NCI: A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components. | MONDO: A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components.
+BMGC_DS08412,BMG_DS033672,NCI: A ganglioneuroblastoma arising from the adrenal gland. | MONDO: A ganglioneuroblastoma arising from the adrenal gland.
+BMGC_DS08413,BMG_DS033674,"NCI: An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma. | MONDO: An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma."
+BMGC_DS08414,BMG_DS033675,NCI: A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. | MONDO: A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.
+BMGC_DS08415,BMG_DS033676,NCI: An ependymoma that arises from the brain and occurs in adults. | MONDO: An ependymoma of the brain occurring in adults.
+BMGC_DS08416,BMG_DS033677,
+BMGC_DS08417,BMG_DS033678,NCI: An astrocytoma of the brain stem that occurs during adulthood.
+BMGC_DS08418,BMG_DS033679,"NCI: A benign or malignant, primary or metastatic neoplasm of the brain stem occurring in adults. | MONDO: A brainstem neoplasm that occurs in an adult."
+BMGC_DS08419,BMG_DS033680,
+BMGC_DS08420,BMG_DS033681,NCI: A mature teratoma that arises from the central nervous system in adults. | MONDO: A central nervous system mature teratoma that occurs in an adult.
+BMGC_DS08421,BMG_DS033682,MONDO: A mixed germ cell tumor of central nervous system that occurs in an adult.
+BMGC_DS08422,BMG_DS033684,"NCI: A benign or malignant, primary or metastatic neoplasm of the cerebellum occurring in adults. | MONDO: A cerebellar neoplasm that occurs in an adult."
+BMGC_DS08423,BMG_DS033685,NCI: A clear cell sarcoma of soft tissue occurring during adulthood.
+BMGC_DS08424,BMG_DS033687,NCI: A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood. | MONDO: A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.
+BMGC_DS08425,BMG_DS033688,NCI: A lymphoma that occurs in adults. | MONDO: A lymphoma that occurs in an adult.
+BMGC_DS08426,BMG_DS033689,NCI: A mesenchymal chondrosarcoma occurring in adults. | MONDO: A mesenchymal chondrosarcoma occurring in adults.
+BMGC_DS08427,BMG_DS033691,"NCI: An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities. | MONDO: An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities."
+BMGC_DS08428,BMG_DS033692,NCI: An ependymoma of the spinal cord not associated with MYCN amplification and occurring in adults. | MONDO: An ependymoma of the spinal cord occurring in adults.
+BMGC_DS08429,BMG_DS033693,NCI: Wilms tumor of the kidney which occurs in adults. | MONDO: Wilms tumor of the kidney which occurs in adults.
+BMGC_DS08430,BMG_DS033694,"NCI: A benign histiocytic tumor that arises from the skin and occurs during adulthood. It is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions appear as cutaneous papules and nodules. | MONDO: A xanthogranuloma that occurs in an adult."
+BMGC_DS08431,BMG_DS033695,MONDO: A yolk sac tumor that occurs in an adult.
+BMGC_DS08432,BMG_DS033696,NCI: A hepatocellular carcinoma that develops following exposure to aflatoxin. | MONDO: A hepatocellular carcinoma that develops following exposure to aflatoxin.
+BMGC_DS08433,BMG_DS033697,NCI: Aleukemic leukemia cutis where the skin in infiltrated by neoplastic monocytes.
+BMGC_DS08434,BMG_DS033699,"NCI: An invasive carcinoma with glandular differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. | MONDO: A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla"
+BMGC_DS08435,BMG_DS033700,"NCI: A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. | MONDO: A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss."
+BMGC_DS08436,BMG_DS033701,"NCI: A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei. | MONDO: A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei."
+BMGC_DS08437,BMG_DS033702,"NCI: A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation. | MONDO: A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation."
+BMGC_DS08438,BMG_DS033703,"NCI: An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells. | MONDO: An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells."
+BMGC_DS08439,BMG_DS033704,"NCI: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. It is characterized by the presence of malignant small cells. | MONDO: An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss."
+BMGC_DS08440,BMG_DS033705,"NCI: A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. | MONDO: A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss."
+BMGC_DS08441,BMG_DS033706,"NCI: An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis. | MONDO: An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis."
+BMGC_DS08442,BMG_DS033707,"HPO: An adenoma carcinoma that originates in the anal canal. [https://orcid.org/0000-0002-0736-9199, PMID:22379406] | MONDO: An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding."
+BMGC_DS08443,BMG_DS033708,NCI: Paget disease involving the squamous epithelium of the anal canal. | MONDO: Paget disease involving the squamous epithelium of the anal canal.
+BMGC_DS08444,BMG_DS033710,NCI: A Kaposi sarcoma arising from the anus. HIV-positive patients have an increased risk of developing Kaposi sarcoma in the perianal region.
+BMGC_DS08445,BMG_DS033712,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08446,BMG_DS033713,"NCI: A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men. | MONDO: A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men."
+BMGC_DS08447,BMG_DS033714,HPO: A basal cell carcinoma that originates in the anal margin. [https://orcid.org/0000-0002-0736-9199] | MONDO: A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.
+BMGC_DS08448,BMG_DS033715,"HPO: An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells. [https://orcid.org/0000-0002-0736-9199, PMID:22379406] | MONDO: Paget disease involving the perianal skin."
+BMGC_DS08449,BMG_DS033716,NCI: An anal adenocarcinoma characterized by the presence of mucoid stroma formation. | MONDO: An anal adenocarcinoma characterized by the presence of mucoid stroma formation.
+BMGC_DS08450,BMG_DS033717,NCI: A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO: A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
+BMGC_DS08451,BMG_DS033718,"NCI: A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO). | MONDO: A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO)."
+BMGC_DS08452,BMG_DS033719,NCI: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus. | MONDO: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus.
+BMGC_DS08453,BMG_DS033720,"NCI: A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma. | MONDO: A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma."
+BMGC_DS08454,BMG_DS033721,"NCI: A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma. | MONDO: A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma."
+BMGC_DS08455,BMG_DS033723,NCI: A meningioma that affects the anterior cranial fossa. | MONDO: A meningioma that affects the anterior cranial fossa.
+BMGC_DS08456,BMG_DS033724,NCI: A meningioma that affects the anterior foramen magnum. | MONDO: A meningioma that affects the anterior foramen magnum.
+BMGC_DS08457,BMG_DS033725,NCI: A meningioma that affects the anterior visual pathway. | MONDO: A meningioma that affects the anterior visual pathway.
+BMGC_DS08458,BMG_DS033726,"NCI: Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. | MONDO: Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function."
+BMGC_DS08459,BMG_DS033727,NCI: A malignant vascular neoplasm arising from the aorta. | MONDO: A malignant vascular neoplasm arising from the aorta.
+BMGC_DS08460,BMG_DS033728,NCI: Breast adenosis characterized by the presence of extensive apocrine metaplasia. | MONDO: Breast adenosis characterized by the presence of extensive apocrine metaplasia.
+BMGC_DS08461,BMG_DS033729,"NCI: A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation. | MONDO: A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation."
+BMGC_DS08462,BMG_DS033730,"NCI: An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles. | MONDO: An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles."
+BMGC_DS08463,BMG_DS033731,"NCI: A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma. | MONDO: A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma."
+BMGC_DS08464,BMG_DS033733,NCI: A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare. | MONDO: A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare.
+BMGC_DS08465,BMG_DS033735,NCI: A carcinoma arising in the lung due to exposure to asbestos. | MONDO: A carcinoma arising in the lung due to exposure to asbestos.
+BMGC_DS08466,BMG_DS033736,NCI: Malignant mesothelioma occurring in a patient exposed to asbestos.
+BMGC_DS08467,BMG_DS033738,
+BMGC_DS08468,BMG_DS033739,"NCI: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas. | MONDO: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas."
+BMGC_DS08469,BMG_DS033740,NCI: An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia. | MONDO: An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia.
+BMGC_DS08470,BMG_DS033741,
+BMGC_DS08471,BMG_DS033742,HPO: A tumor that arises from an element of the autonomic nervous system. [] | MONDO: Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.
+BMGC_DS08472,BMG_DS033743,"NCI: An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. | MONDO: An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002"
+BMGC_DS08473,BMG_DS033744,"NCI: An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present. | MONDO: An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present."
+BMGC_DS08474,BMG_DS033745,"NCI: A large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis. | MONDO: A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis."
+BMGC_DS08475,BMG_DS033746,"NCI: A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases. | MONDO: A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases."
+BMGC_DS08476,BMG_DS033748,NCI: A benign schwannoma occurring in the skin.
+BMGC_DS08477,BMG_DS033752,NCI: A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies. | MONDO: A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.
+BMGC_DS08478,BMG_DS033753,NCI: A benign soft tissue neoplasm in which the line of differentiation is uncertain.
+BMGC_DS08479,BMG_DS033757,"NCI: A mesenchymal neoplasm arising from the perivascular cells of connective and soft tissue. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. There is no evidence of atypical or malignant cytological and architectural features, invasive features, or metastases. | MONDO: A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels."
+BMGC_DS08480,BMG_DS033763,NCI: Meningiomas that affects both optic nerves. | MONDO: Meningiomas that affects both optic nerves.
+BMGC_DS08481,BMG_DS033764,NCI: A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts. | MONDO: A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts.
+BMGC_DS08482,BMG_DS033765,NCI: A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements. | MONDO: A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements.
+BMGC_DS08483,BMG_DS033766,"NCI: A bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria. | MONDO: A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria."
+BMGC_DS08484,BMG_DS033769,NCI: A lymphoma involving the bladder. | MONDO: A lymphoma that involves the urinary bladder.
+BMGC_DS08485,BMG_DS033770,NCI: A variant of bladder adenocarcinoma with mucin containing signet ring cells. | MONDO: A signet ring cell carcinoma that involves the urinary bladder.
+BMGC_DS08486,BMG_DS033771,"NCI: A small cell neuroendocrine carcinoma arising from the bladder. | MONDO: A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ."
+BMGC_DS08487,BMG_DS033775,"NCI: A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08488,BMG_DS033776,NCI: A very rare liposarcoma that arises from the bone. | MONDO: A very rare malignant adipose tissue neoplasm that arises from the bone.
+BMGC_DS08489,BMG_DS033777,"SNOMEDCT_US: A rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. | MONDO: A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease."
+BMGC_DS08490,BMG_DS033778,NCI: A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. | MONDO: A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.
+BMGC_DS08491,BMG_DS033780,MONDO: A neoplasm (disease) that involves the brachial nerve plexus.
+BMGC_DS08492,BMG_DS033781,NCI: A germinoma that occurs in the brain. | MONDO: A germinoma (disease) that involves the brain.
+BMGC_DS08493,BMG_DS033782,NCI: A sarcoma arising from the brain. | MONDO: A sarcoma arising from the brain.
+BMGC_DS08494,BMG_DS033783,NCI: An astrocytoma that arises from the brain stem. | MONDO: An astrocytoma that arises from the brain stem.
+BMGC_DS08495,BMG_DS033784,NCI: An ependymoma that arises from the brain stem. | MONDO: An ependymoma that arises from the brain stem.
+BMGC_DS08496,BMG_DS033785,NCI: A hemangioblastoma arising from the brain stem. | MONDO: A hemangioblastoma that involves the brainstem.
+BMGC_DS08497,BMG_DS033786,NCI: A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells. | MONDO: A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells.
+BMGC_DS08498,BMG_DS033787,NCI: A malignant vascular neoplasm arising from the breast. | MONDO: A malignant vascular neoplasm arising from the breast.
+BMGC_DS08499,BMG_DS033788,NCI: A capillary hemangioma arising from the breast. | MONDO: A capillary hemangioma arising from the breast.
+BMGC_DS08500,BMG_DS033789,"NCI: A hemangioma that arises from the breast. It is characterized by the presence of epithelioid endothelial cells. | MONDO: A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast."
+BMGC_DS08501,BMG_DS033790,NCI: Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia. | MONDO: Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia.
+BMGC_DS08502,BMG_DS033792,NCI: A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. | MONDO: A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
+BMGC_DS08503,BMG_DS033793,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08504,BMG_DS033794,NCI: A liposarcoma that arises from the breast parenchyma. | MONDO: A malignant adipose tissue neoplasm of the breast.
+BMGC_DS08505,BMG_DS033797,NCI: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast. | MONDO: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast.
+BMGC_DS08506,BMG_DS033798,NCI: A benign adenomatous neoplasm that arises from the mucous glands in the bronchus. | MONDO: A benign adenomatous neoplasm that arises from the mucous glands in the bronchus.
+BMGC_DS08507,BMG_DS033800,"SNOMEDCT_US: A rare genetic primary immunodeficiency with characteristics of susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure. The disease is caused by homozygous or compound heterozygous mutation in the C3 gene on chromosome 19p13."
+BMGC_DS08508,BMG_DS033802,NCI: A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose. | MONDO: A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose.
+BMGC_DS08509,BMG_DS033803,NCI: A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. | MONDO: A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
+BMGC_DS08510,BMG_DS033805,NCI: A Kaposi sarcoma arising from the heart.
+BMGC_DS08511,BMG_DS033806,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08512,BMG_DS033807,HPO: A lipoma that is located within a the heart. [] | MONDO: A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.
+BMGC_DS08513,BMG_DS033808,"NCI: An extranodal lymphoma that arises from the heart. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope. | MONDO: An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope."
+BMGC_DS08514,BMG_DS033809,"HPO: A benign tumor of cardiac striated muscle. [https://orcid.org/0000-0002-0736-9199] | MONDO: A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis."
+BMGC_DS08515,BMG_DS033811,NCI: A cavernous hemangioma arising from the face. | MONDO: A cavernous hemangioma arising from the face.
+BMGC_DS08516,BMG_DS033812,NCI: A meningioma that affects the cavernous sinus. | MONDO: A meningioma that affects the cavernous sinus.
+BMGC_DS08517,BMG_DS033813,"NCI: An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. | MONDO: A carcinoma that arises from glandular epithelial cells of the caecum"
+BMGC_DS08518,BMG_DS033814,NCI: An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas. | MONDO: An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas.
+BMGC_DS08519,BMG_DS033816,"NCI: A malignant vascular neoplasm arising from the brain, spinal cord or meninges. | MONDO: A malignant vascular neoplasm arising from the brain, spinal cord or meninges."
+BMGC_DS08520,BMG_DS033818,NCI: A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. | MONDO: A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
+BMGC_DS08521,BMG_DS033819,"MONDO: A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma."
+BMGC_DS08522,BMG_DS033820,"NCI: A neoplasm of hematopoietic and lymphoid cell origin that affects the brain, meninges, or spinal cord. | MONDO: A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias."
+BMGC_DS08523,BMG_DS033821,"NCI: A teratoma involving the central nervous system and characterized by the presence of an extensive component of immature, fetal-type tissues. | MONDO: A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)"
+BMGC_DS08524,BMG_DS033822,NCI: Leukemia infiltrating the central nervous system structures. | MONDO: Leukemia infiltrating the central nervous system structures.
+BMGC_DS08525,BMG_DS033823,"NCI: A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels. | MONDO: A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels."
+BMGC_DS08526,BMG_DS033824,"NCI: A mature teratoma arising in the central nervous system. | MONDO: A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)"
+BMGC_DS08527,BMG_DS033825,NCI: A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion. | MONDO: A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.
+BMGC_DS08528,BMG_DS033826,NCI: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system. | MONDO: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.
+BMGC_DS08529,BMG_DS033827,NCI: A sarcoma that arises from the central nervous system. | MONDO: A sarcoma that arises from the central nervous system.
+BMGC_DS08530,BMG_DS033829,NCI: A mature or immature teratoma that affects the central nervous system. | MONDO: A mature or immature teratoma that affects the central nervous system.
+BMGC_DS08531,BMG_DS033830,NCI: A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge. | MONDO: A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge.
+BMGC_DS08532,BMG_DS033831,"NCI: A hemangioblastoma that arises from the cerebellum. | MONDO: A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26)."
+BMGC_DS08533,BMG_DS033832,NCI: A papillary meningioma that affects the cerebellum. | MONDO: A papillary meningioma that affects the cerebellum.
+BMGC_DS08534,BMG_DS033836,NCI: A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum. | MONDO: A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.
+BMGC_DS08535,BMG_DS033837,"SNOMEDCT_US: A rare highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumour is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence. | MONDO: A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present."
+BMGC_DS08536,BMG_DS033838,HPO: A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm. [NCIT:C6344] | MONDO: A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).
+BMGC_DS08537,BMG_DS033839,NCI: A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. It is not associated with human papillomavirus infection. | MONDO: A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium.
+BMGC_DS08538,BMG_DS033840,NCI: A meningioma that arises from the meninges of the cervical region of the spinal cord. | MONDO: A meningioma that arises from the meninges of the cervical region of the spinal cord.
+BMGC_DS08539,BMG_DS033841,"SNOMEDCT_US: A rare malignant, mixed epithelial and mesenchymal tumour, located in the cervix uteri, composed of a mixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with human papillomavirus infection (especially serotype 16) has been frequently reported. | MONDO: A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma."
+BMGC_DS08540,BMG_DS033842,"NCI: A mucinous adenocarcinoma arising from the endocervical glandular epithelium. It is characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin. Histologic variants include intestinal-type, signet ring-type, gastric-type, cervical invasive stratified mucinous adenocarcinoma, and mucinous adenocarcinoma, not otherwise specified. All histologic variants except gastric-type adenocarcinoma are associated with human papillomavirus infection. | MONDO: A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin."
+BMGC_DS08541,BMG_DS033844,
+BMGC_DS08542,BMG_DS033846,NCI: A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas. | MONDO: A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas.
+BMGC_DS08543,BMG_DS033847,NCI: A parachordoma arising from the chest wall. | MONDO: A parachordoma arising from the chest wall.
+BMGC_DS08544,BMG_DS033848,NCI: A solitary plasmacytoma that arises in the chest wall. | MONDO: A solitary plasmacytoma that arises from the chest wall.
+BMGC_DS08545,BMG_DS033849,MONDO: A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.
+BMGC_DS08546,BMG_DS033850,NCI: A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. | MONDO: A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.
+BMGC_DS08547,BMG_DS033851,NCI: A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. | MONDO: A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma.
+BMGC_DS08548,BMG_DS033852,NCI: A germinoma arising from the brain during childhood. | MONDO: A germinoma arising from the brain during childhood.
+BMGC_DS08549,BMG_DS033854,NCI: An astrocytoma that arises from the brain stem and occurs during childhood. | MONDO: An astrocytoma that arises from the brain stem and occurs during childhood.
+BMGC_DS08550,BMG_DS033855,NCI: A neoplasm that affects the brain stem and occurs during childhood. | MONDO: A neoplasm that affects the brain stem and occurs during childhood.
+BMGC_DS08551,BMG_DS033856,NCI: A germinoma arising from the central nervous system during childhood. | MONDO: A germinoma arising from the central nervous system during childhood.
+BMGC_DS08552,BMG_DS033857,NCI: An immature teratoma that arises from the central nervous system and occurs during childhood. | MONDO: An immature teratoma that arises from the central nervous system and occurs during childhood.
+BMGC_DS08553,BMG_DS033858,NCI: A mature teratoma that arises from the central nervous system during childhood. | MONDO: A mature teratoma that arises from the central nervous system during childhood.
+BMGC_DS08554,BMG_DS033859,NCI: A mixed germ cell tumor that arises from the central nervous system and occurs during childhood. | MONDO: A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.
+BMGC_DS08555,BMG_DS033861,NCI: A neoplasm that affects the cerebellum and occurs during childhood. | MONDO: A neoplasm that affects the cerebellum and occurs during childhood.
+BMGC_DS08556,BMG_DS033864,"HPO: Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. [https://orcid.org/0009-0006-4530-3154] | MONDO: A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis."
+BMGC_DS08557,BMG_DS033865,"NCI: An osteosarcoma that arises from the soft tissue and occurs during childhood. | MONDO: An osteosarcoma arising from the soft tissue, and occurring during childhood."
+BMGC_DS08558,BMG_DS033867,"NCI: An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. | MONDO: An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children."
+BMGC_DS08559,BMG_DS033868,NCI: A neoplasm that affects the infratentorial region of the brain and occurs during childhood. | MONDO: A neoplasm that affects the infratentorial region of the brain and occurs during childhood.
+BMGC_DS08560,BMG_DS033869,"NCI: A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. | MONDO: A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis."
+BMGC_DS08561,BMG_DS033870,NCI: A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. | MONDO: A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.
+BMGC_DS08562,BMG_DS033871,MONDO: An acute or chronic leukemia that occurs during childhood.
+BMGC_DS08563,BMG_DS033872,NCI: A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. | MONDO: A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.
+BMGC_DS08564,BMG_DS033873,NCI: A peripheral nervous system neoplasm that arises in the mediastinum during childhood.
+BMGC_DS08565,BMG_DS033874,NCI: A rare mesenchymal chondrosarcoma that occurs during childhood. | MONDO: A mesenchymal chondrosarcoma occurring in children.
+BMGC_DS08566,BMG_DS033875,NCI: A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. | MONDO: A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.
+BMGC_DS08567,BMG_DS033876,NCI: A myxoid chondrosarcoma occurring in children. | MONDO: A myxoid chondrosarcoma occurring in children.
+BMGC_DS08568,BMG_DS033877,NCI: An osteosarcoma that occurs during childhood. | MONDO: An osteosarcoma occurring in childhood.
+BMGC_DS08569,BMG_DS033878,NCI: A non-gestational choriocarcinoma that arises from the ovary and occurs in children. | MONDO: A non-gestational choriocarcinoma that arises from the ovary and occurs in children.
+BMGC_DS08570,BMG_DS033879,NCI: A dysgerminoma that arises from the ovary and occurs in children. | MONDO: A dysgerminoma that arises from the ovary and occurs in children.
+BMGC_DS08571,BMG_DS033880,NCI: An embryonal carcinoma that arises from the ovary and occurs in children. | MONDO: An embryonal carcinoma that arises from the ovary and occurs in children.
+BMGC_DS08572,BMG_DS033881,NCI: An immature teratoma that arises from the ovary and occurs in children. | MONDO: An immature teratoma that arises from the ovary and occurs in children.
+BMGC_DS08573,BMG_DS033882,NCI: A mature teratoma that arises from the ovary and occurs in children. | MONDO: A mature teratoma that arises from the ovary and occurs in children.
+BMGC_DS08574,BMG_DS033883,NCI: A teratoma that arises from the ovary and occurs in children. | MONDO: A mature or immature teratoma that arises from the ovary and occurs in children.
+BMGC_DS08575,BMG_DS033884,NCI: A yolk sac tumor that arises from the ovary and occurs in children. | MONDO: A yolk sac tumor that arises from the ovary and occurs in children.
+BMGC_DS08576,BMG_DS033885,"NCI: A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. | MONDO: A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent."
+BMGC_DS08577,BMG_DS033886,NCI: A pilocytic astrocytoma that occurs during childhood. | MONDO: A pilocytic astrocytoma that occurs during childhood.
+BMGC_DS08578,BMG_DS033889,NCI: An angiomyolipoma that arises from the kidney and occurs during childhood. | MONDO: An angiomyolipoma occurring in childhood.
+BMGC_DS08579,BMG_DS033890,NCI: A renal cell carcinoma that occurs during childhood. | MONDO: A renal cell carcinoma that occurs during childhood.
+BMGC_DS08580,BMG_DS033891,NCI: A kidney neoplasm that occurs in children. | MONDO: A kidney neoplasm that occurs during childhood.
+BMGC_DS08581,BMG_DS033892,NCI: A choriocarcinoma that arises from the testis during childhood. | MONDO: A choriocarcinoma that arises from the testis during childhood.
+BMGC_DS08582,BMG_DS033893,NCI: An embryonal carcinoma that arises from the testis during childhood. | MONDO: An embryonal carcinoma that arises from the testis during childhood.
+BMGC_DS08583,BMG_DS033894,NCI: A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. | MONDO: A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components.
+BMGC_DS08584,BMG_DS033895,NCI: A malignant mixed germ cell neoplasm that arises from the testis during childhood. | MONDO: A malignant mixed germ cell neoplasm that arises from the testis during childhood.
+BMGC_DS08585,BMG_DS033896,NCI: A neoplasm that affects the testis during childhood. | MONDO: A neoplasm that arises from the testis during childhood.
+BMGC_DS08586,BMG_DS033897,NCI: An astrocytoma that arises from the visual pathway and occurs during childhood. | MONDO: An astrocytoma that arises from the visual pathway and occurs during childhood.
+BMGC_DS08587,BMG_DS033898,NCI: A Wilms tumor of the kidney which occurs in children. | MONDO: A Wilms tumor of the kidney which occurs in children.
+BMGC_DS08588,BMG_DS033899,NCI: A yolk sac tumor that occurs during childhood. | MONDO: A yolk sac tumor that occurs during childhood.
+BMGC_DS08589,BMG_DS033901,NCI: A choroid melanoma characterized by the presence of malignant large epithelioid melanocytes. | MONDO: A epithelioid cell melanoma that involves the optic choroid.
+BMGC_DS08590,BMG_DS033902,"NCI: A melanoma arising from the choroid. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. | MONDO: A mixed cell uveal melanoma that involves the optic choroid."
+BMGC_DS08591,BMG_DS033903,NCI: A choroid melanoma characterized by the presence of tumor cell necrosis.
+BMGC_DS08592,BMG_DS033904,NCI: A melanoma that arises from the choroid. It is characterized by the presence of spindle-shaped melanocytes. | MONDO: A spindle cell melanoma that involves the optic choroid.
+BMGC_DS08593,BMG_DS033905,"NCI: A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years. | MONDO: A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years."
+BMGC_DS08594,BMG_DS033906,"NCI: A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years. | MONDO: A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years."
+BMGC_DS08595,BMG_DS033907,
+BMGC_DS08596,BMG_DS033908,"MONDO: This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms."
+BMGC_DS08597,BMG_DS033909,
+BMGC_DS08598,BMG_DS033910,NCI: A ciliary body melanoma characterized by the presence of malignant large epithelioid melanocytes. | MONDO: A epithelioid cell melanoma that involves the ciliary body.
+BMGC_DS08599,BMG_DS033911,"NCI: A melanoma arising from the ciliary body. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. | MONDO: A mixed cell uveal melanoma that involves the ciliary body."
+BMGC_DS08600,BMG_DS033912,NCI: A melanoma that arises from the ciliary body. It is characterized by the presence of spindle-shaped melanocytes. | MONDO: A spindle cell melanoma that involves the ciliary body.
+BMGC_DS08601,BMG_DS033913,"NCI: A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. | MONDO: A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones."
+BMGC_DS08602,BMG_DS033914,NCI: A variant of chromophobe renal cell carcinoma. It is characterized by the presence of large pale cells with thickened cell membranes.
+BMGC_DS08603,BMG_DS033915,NCI: A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative. | MONDO: A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative.
+BMGC_DS08604,BMG_DS033916,"NCI: A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm. | MONDO: A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm."
+BMGC_DS08605,BMG_DS033917,NCI: A carcinoma that arises from the clitoris. | MONDO: A carcinoma that arises from the clitoris.
+BMGC_DS08606,BMG_DS033918,"NCI: A chordoma that arises from the clivus. | MONDO: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells."
+BMGC_DS08607,BMG_DS033919,"NCI: A chondroid chordoma that arises from the clivus. | MONDO: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage."
+BMGC_DS08608,BMG_DS033920,NCI: A meningioma that affects the clivus. | MONDO: A meningioma that affects the clivus.
+BMGC_DS08609,BMG_DS033921,NCI: A carcinoma that arises from the transitional zone at the junction of the rectum and anus. | MONDO: A carcinoma that arises from the transitional zone at the junction of the rectum and anus.
+BMGC_DS08610,BMG_DS033922,"NCI: An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei. | MONDO: An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei."
+BMGC_DS08611,BMG_DS033923,"NCI: An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. | MONDO: An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas."
+BMGC_DS08612,BMG_DS033926,NCI: A cavernous hemangioma arising from the colon. | MONDO: A cavernous hemangioma arising from the colon.
+BMGC_DS08613,BMG_DS033928,NCI: A Kaposi sarcoma arising from the colon. | MONDO: A Kaposi sarcoma arising from the colon.
+BMGC_DS08614,BMG_DS033929,"NCI: A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS08615,BMG_DS033930,NCI: An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells.
+BMGC_DS08616,BMG_DS033931,NCI: A lymphangioma arising from the colon. | MONDO: A lymphangioma arising from the colon.
+BMGC_DS08617,BMG_DS033933,"ORPHANET: A rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities). | MONDO: A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)."
+BMGC_DS08618,BMG_DS033934,"NCI: A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. | MONDO: A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma."
+BMGC_DS08619,BMG_DS033935,"NCI: An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells. | MONDO: An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells."
+BMGC_DS08620,BMG_DS033936,"SNOMEDCT_US: A rare epithelial tumour of the colon arising from squamous cells of the colorectal epithelium without the presence of squamous-lined fistulous tracts or a proximal extension of an anal squamous cell carcinoma. It usually presents with nonspecific symptoms, such as anorexia, weight loss, abdominal pain, changes of bowel habits, haematochezia or melaena. Cases of severe symptomatic hypercalcaemia have been reported. | MONDO: A squamous cell carcinoma that involves the colon."
+BMGC_DS08621,BMG_DS033938,"NCI: A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS08622,BMG_DS033939,NCI: A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum. | MONDO: A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum.
+BMGC_DS08623,BMG_DS033941,NCI: A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells. | MONDO: A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells.
+BMGC_DS08624,BMG_DS033942,"NCI: A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma. | MONDO: A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma."
+BMGC_DS08625,BMG_DS033944,NCI: A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma. | MONDO: A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma.
+BMGC_DS08626,BMG_DS033945,"NCI: A breast fibroadenoma that displays fibrocystic changes including apocrine metaplasia, sclerosing adenosis, and cyst formation."
+BMGC_DS08627,BMG_DS033946,NCI: A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. | MONDO: A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.
+BMGC_DS08628,BMG_DS033947,NCI: A precancerous neoplastic intraepithelial process involving the conjunctival squamous epithelium.
+BMGC_DS08629,BMG_DS033948,MONDO: A neoplasm (disease) that involves the conus medullaris.
+BMGC_DS08630,BMG_DS033949,NCI: An angiosarcoma characterized by the presence of malignant spindle endothelial cells. | MONDO: An angiosarcoma characterized by the presence of malignant spindle endothelial cells.
+BMGC_DS08631,BMG_DS033950,"NCI: A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern. | MONDO: A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern."
+BMGC_DS08632,BMG_DS033951,"NCI: An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion. | MONDO: An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion."
+BMGC_DS08633,BMG_DS033952,NCI: A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity. | MONDO: A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity.
+BMGC_DS08634,BMG_DS033953,NCI: A precancerous neoplastic intraepithelial process involving the corneal epithelium. | MONDO: A squamous cell intraepithelial neoplasia that involves the cornea.
+BMGC_DS08635,BMG_DS033954,"HPO: Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain. [https://orcid.org/0000-0002-3302-4610, PMID:30104143] | MONDO: A rare benign adipose tissue neoplasm of the corpus callosum."
+BMGC_DS08636,BMG_DS033955,"NCI: A rare, self-limiting, rapidly growing, non-encapsulated benign osteolytic neoplasm that arises from the cranium. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. | MONDO: A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity."
+BMGC_DS08637,BMG_DS033957,NCI: An adipose tissue neoplasm arising from the skin.
+BMGC_DS08638,BMG_DS033958,NCI: A liposarcoma that arises from the skin. | MONDO: A malignant adipose tissue neoplasm of the skin.
+BMGC_DS08639,BMG_DS033959,NCI: A lymphangioma arising from the skin. | MONDO: A lymphangioma arising from the skin.
+BMGC_DS08640,BMG_DS033961,NCI: A hemangioma arising from the deep soft tissues. | MONDO: A hemangioma arising from the deep soft tissues.
+BMGC_DS08641,BMG_DS033962,"NCI: A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS08642,BMG_DS033963,NCI: A dermoid cyst that arises from the spinal cord. | MONDO: A dermoid cyst that involves the spinal cord.
+BMGC_DS08643,BMG_DS033965,NCI: A meningioma that arises from the diaphragma sellae. | MONDO: A meningioma that affects the diaphragma sellae.
+BMGC_DS08644,BMG_DS033966,MONDO: A astrocytoma that involves the diencephalon.
+BMGC_DS08645,BMG_DS033967,
+BMGC_DS08646,BMG_DS033969,NCI: This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs. | MONDO: This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs.
+BMGC_DS08647,BMG_DS033973,"NCI: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy. | MONDO: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy."
+BMGC_DS08648,BMG_DS033974,"NCI: An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain. | MONDO: An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain."
+BMGC_DS08649,BMG_DS033975,NCI: A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct. | MONDO: A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct.
+BMGC_DS08650,BMG_DS033976,NCI: A somatostatin-producing neuroendocrine tumor that arises from the duodenum. | MONDO: A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures.
+BMGC_DS08651,BMG_DS033977,NCI: A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. | MONDO: A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm.
+BMGC_DS08652,BMG_DS033980,NCI: A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent. | MONDO: A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent.
+BMGC_DS08653,BMG_DS033981,NCI: A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low. | MONDO: A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low.
+BMGC_DS08654,BMG_DS033982,NCI: A neoplasm involving the eccrine glands. | MONDO: A neoplasm involving a eccrine sweat gland.
+BMGC_DS08655,BMG_DS033984,"NCI: A condition in which the thymus gland is abnormally located; this can be secondary to failure of descent during fetal development, or failure of involution. | MONDO: A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution."
+BMGC_DS08656,BMG_DS033985,"NCI: A malignant germ cell tumor of the central nervous system composed of large cells that proliferate in cohesive nests and sheets. In rare occasions, tumor cells may replicate the structure of the early embryo, forming ""embryoid bodies"" replete with germ discs and miniature amniotic cavities. Additional morphologic characteristics include enlarged nucleoli, abundant clear to somewhat violet-hued cytoplasm, a high mitotic rate and zones of coagulative necrosis. (Adapted from WHO) | MONDO: A embryonal carcinoma that involves the central nervous system."
+BMGC_DS08657,BMG_DS033986,NCI: A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics. | MONDO: A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics.
+BMGC_DS08658,BMG_DS033987,"NCI: A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS08659,BMG_DS033988,MONDO: A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells.
+BMGC_DS08660,BMG_DS033989,"NCI: A variant of chromophobe renal cell carcinoma in which more than 80% of the malignant cells have granular, eosinophilic cytoplasm."
+BMGC_DS08661,BMG_DS033990,"ORPHANET: A tumor of neurectodermal origin arising from ependymal cells that line the ventricles and central canal of the spinal cord, that can occur in both children and adults, and that is characterized by wide a range of clinical manifestations depending on the location of the tumor, such as intracranial hypertension for tumors originating in the posterior fossa, behavioural changes and pyramidal signs for supratentorial tumors, and dysesthesia for tumors of the spinal cord. They can be classified as myxopapillary ependymoma, subependymoma, ependymoma (low grade tumors) or anaplastic ependymoma (grade III tumors). | MONDO: A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)"
+BMGC_DS08662,BMG_DS033991,NCI: A rare benign adipose tissue neoplasm of the epicardium of the heart. | MONDO: A rare benign adipose tissue neoplasm of the epicardium of the heart.
+BMGC_DS08663,BMG_DS033992,"NCI: A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis. | MONDO: A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis."
+BMGC_DS08664,BMG_DS033994,NCI: An uncommon lipoma characterized by prominent vascularity arising in the epidural space of the spinal canal. | MONDO: An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.
+BMGC_DS08665,BMG_DS033995,NCI: A meningioma that arises in the epidural spinal canal space. | MONDO: A meningioma that arises in the epidural spinal canal space.
+BMGC_DS08666,BMG_DS033996,NCI: A benign or malignant epithelial neoplasm that affects the liver.
+BMGC_DS08667,BMG_DS033997,"NCI: A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma. | MONDO: A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma."
+BMGC_DS08668,BMG_DS033998,NCI: A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes. | MONDO: A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.
+BMGC_DS08669,BMG_DS034000,NCI: An infrequent esophageal carcinoma arising from esophageal glands. (WHO) | MONDO: An infrequent esophageal carcinoma arising from esophageal glands. (WHO)
+BMGC_DS08670,BMG_DS034001,"NCI: A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO) | MONDO: A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO)"
+BMGC_DS08671,BMG_DS034002,"NCI: A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) | MONDO: A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. Histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. This is usually a benign tumor. (WHO, 2000) -- 2003"
+BMGC_DS08672,BMG_DS034003,NCI: A Kaposi sarcoma arising from the esophagus.
+BMGC_DS08673,BMG_DS034004,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08674,BMG_DS034006,"NCI: A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation. | MONDO: A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation."
+BMGC_DS08675,BMG_DS034007,NCI: An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. | MONDO: An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.
+BMGC_DS08676,BMG_DS034008,"NCI: A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000) | MONDO: A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000)"
+BMGC_DS08677,BMG_DS034009,"NCI: A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO) | MONDO: A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO)"
+BMGC_DS08678,BMG_DS034010,"ORPHANET: A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome."
+BMGC_DS08679,BMG_DS034011,"NCI: A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. | MONDO: A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells."
+BMGC_DS08680,BMG_DS034012,"NCI: A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma. | MONDO: A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma."
+BMGC_DS08681,BMG_DS034014,"NCI: A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO) | MONDO: A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO)"
+BMGC_DS08682,BMG_DS034015,NCI: An adenocarcinoma that arises from the ethmoid sinus. | MONDO: A carcinoma that arises from glandular epithelial cells of the epithelial cell
+BMGC_DS08683,BMG_DS034016,NCI: An adenoid cystic carcinoma that affects the ethmoid sinus. | MONDO: An adenoid cystic carcinoma that affects the ethmoid sinus.
+BMGC_DS08684,BMG_DS034017,NCI: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. | MONDO: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.
+BMGC_DS08685,BMG_DS034018,NCI: An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus. | MONDO: An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.
+BMGC_DS08686,BMG_DS034019,NCI: A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. | MONDO: A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma.
+BMGC_DS08687,BMG_DS034020,"NCI: A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. | MONDO: A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis."
+BMGC_DS08688,BMG_DS034021,"NCI: A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. | MONDO: A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms."
+BMGC_DS08689,BMG_DS034023,NCI: A basal cell carcinoma that arises from the skin of the external ear. | MONDO: A basal cell carcinoma that arises from the skin of the external ear.
+BMGC_DS08690,BMG_DS034024,"NCI: A carcinoma that arises from the external ear. This category includes squamous cell carcinoma, basal cell carcinoma, and ceruminous adenocarcinoma. | MONDO: A carcinoma that arises from epithelial cells of the external ear"
+BMGC_DS08691,BMG_DS034025,NCI: A squamous cell carcinoma that arises from the external ear. | MONDO: A squamous cell carcinoma that arises from the skin of the external ear.
+BMGC_DS08692,BMG_DS034026,NCI: A neuroblastoma arising from an anatomic site other than the brain. | MONDO: A neuroblastoma arising from an anatomic site other than the brain.
+BMGC_DS08693,BMG_DS034027,
+BMGC_DS08694,BMG_DS034028,NCI: A mucinous cystic neoplasm that arises from the extrahepatic bile ducts. | MONDO: A mucinous cystic neoplasm that arises from the extrahepatic bile ducts.
+BMGC_DS08695,BMG_DS034029,NCI: An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts. | MONDO: An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts.
+BMGC_DS08696,BMG_DS034031,"NCI: An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08697,BMG_DS034032,NCI: A rare benign adipose tissue neoplasm of the extrahepatic bile duct. | MONDO: A rare benign adipose tissue neoplasm of the extrahepatic bile duct.
+BMGC_DS08698,BMG_DS034033,NCI: An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern. | MONDO: An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern.
+BMGC_DS08699,BMG_DS034034,"NCI: An intraductal papillary neoplasm that arises from the epithelium of the extrahepatic bile ducts. | MONDO: A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts."
+BMGC_DS08700,BMG_DS034035,"NCI: A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. | MONDO: A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms."
+BMGC_DS08701,BMG_DS034036,"NCI: An adenocarcinoma that arises from the fallopian tube. Histologic subtypes include clear cell, endometrioid, serous, and mucinous adenocarcinoma. It spreads to adjacent organs, regional lymph nodes, and peritoneum. | MONDO: A carcinoma that arises from glandular epithelial cells of the fallopian tube"
+BMGC_DS08702,BMG_DS034037,NCI: A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells. | MONDO: A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells.
+BMGC_DS08703,BMG_DS034038,NCI: An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis. | MONDO: An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis.
+BMGC_DS08704,BMG_DS034039,NCI: A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy. | MONDO: A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy.
+BMGC_DS08705,BMG_DS034040,NCI: An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern. | MONDO: An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern.
+BMGC_DS08706,BMG_DS034041,NCI: A rare squamous cell carcinoma that arises from the fallopian tube. | MONDO: A rare squamous cell carcinoma that arises from the fallopian tube.
+BMGC_DS08707,BMG_DS034042,NCI: A meningioma that affects the falx cerebri. | MONDO: A meningioma that affects the falx cerebri.
+BMGC_DS08708,BMG_DS034044,
+BMGC_DS08709,BMG_DS034045,"NCI: A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia. | MONDO: A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia."
+BMGC_DS08710,BMG_DS034049,NCI: A meningioma that affects the foramen magnum. | MONDO: A meningioma that affects the foramen magnum.
+BMGC_DS08711,BMG_DS034050,NCI: A meningioma that affects the frontal sulcus. | MONDO: A meningioma that affects the frontal sulcus.
+BMGC_DS08712,BMG_DS034051,NCI: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. | MONDO: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.
+BMGC_DS08713,BMG_DS034052,NCI: A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. | MONDO: A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma.
+BMGC_DS08714,BMG_DS034053,"NCI: A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. | MONDO: A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis."
+BMGC_DS08715,BMG_DS034054,NCI: A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components. | MONDO: A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.
+BMGC_DS08716,BMG_DS034055,NCI: A malignant vascular neoplasm arising from the gallbladder. | MONDO: An angiosarcoma that is located in the gallbladder.
+BMGC_DS08717,BMG_DS034056,NCI: A Kaposi sarcoma arising from the gallbladder.
+BMGC_DS08718,BMG_DS034058,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08719,BMG_DS034060,"NCI: A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site. | MONDO: A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site."
+BMGC_DS08720,BMG_DS034061,NCI: A melanoma that arises from the gallbladder. | MONDO: A melanoma that arises from the gallbladder.
+BMGC_DS08721,BMG_DS034062,NCI: An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. | MONDO: An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor.
+BMGC_DS08722,BMG_DS034063,"NCI: A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. | MONDO: A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells."
+BMGC_DS08723,BMG_DS034066,NCI: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the gallbladder. | MONDO: A rhabdomyosarcoma that is located in the gallbladder.
+BMGC_DS08724,BMG_DS034067,"NCI: A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. | MONDO: A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma."
+BMGC_DS08725,BMG_DS034068,NCI: An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells. | MONDO: An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells.
+BMGC_DS08726,BMG_DS034069,"NCI: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. | MONDO: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells."
+BMGC_DS08727,BMG_DS034070,NCI: A meningioma that affects the trigeminal ganglion. | MONDO: A meningioma that affects the trigeminal ganglion.
+BMGC_DS08728,BMG_DS034071,NCI: A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation. | MONDO: A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.
+BMGC_DS08729,BMG_DS034072,NCI: An adenocarcinoma that arises from the gastric cardia. The majority of cases have been reclassified as gastroesophageal junction adenocarcinomas. | MONDO: A carcinoma that arises from glandular epithelial cells of the cardia of stomach.
+BMGC_DS08730,BMG_DS034073,NCI: A carcinoma that arises from the gastric cardia. | MONDO: A carcinoma that arises from epithelial cells of the cardia of stomach.
+BMGC_DS08731,BMG_DS034074,"NCI: Non-neoplastic polyps that arise from the stomach and are often indistinguishable from hyperplastic polyps. They may be associated with the presence of polyps in other parts of the gastrointestinal tract. Associated clinical signs and symptoms are nail atrophy, alopecia, and hyperpigmentation."
+BMGC_DS08732,BMG_DS034075,NCI: A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome. | MONDO: A well differentiated neuroendocrine tumor that arises from the stomach. It produces gastrin and it may be associated with Zollinger-Ellison syndrome.
+BMGC_DS08733,BMG_DS034076,NCI: A benign or malignant germ cell tumor that arises from the stomach. Representative examples include teratoma and choriocarcinoma.
+BMGC_DS08734,BMG_DS034078,NCI: A Kaposi sarcoma arising from the stomach.
+BMGC_DS08735,BMG_DS034080,NCI: A liposarcoma that arises from the stomach. | MONDO: A malignant adipose tissue neoplasm of the stomach.
+BMGC_DS08736,BMG_DS034083,"ORPHANET: A rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported. | MONDO: A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)."
+BMGC_DS08737,BMG_DS034085,NCI: A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores. | MONDO: A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores.
+BMGC_DS08738,BMG_DS034086,NCI: A carcinoma that arises from the pylorus. | MONDO: A carcinoma that arises from the pylorus.
+BMGC_DS08739,BMG_DS034087,"NCI: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. | MONDO: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells."
+BMGC_DS08740,BMG_DS034088,"SNOMEDCT_US: A rare epithelial tumour of the stomach, defined histopathologically as keratinising cell masses with pearl formation, mosaic pattern of cell arrangement, intercellular bridges and high concentrations of sulphydryl or disulphide bonds, arising directly from gastric mucosa, without oesophageal involvement. It is characterised by preferential location in the upper third of the stomach, high probability of lympho vascular and serosal invasion and late onset of clinical symptoms associated with poor prognosis including nonspecific symptoms of abdominal pain, dysphagia, vomiting, melaena or haematochezia, haematemesis and weight loss. | MONDO: A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body."
+BMGC_DS08741,BMG_DS034089,NCI: A mature or immature teratoma that arises from the stomach. | MONDO: A mature or immature teratoma that arises from the stomach.
+BMGC_DS08742,BMG_DS034090,NCI: A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules. | MONDO: A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.
+BMGC_DS08743,BMG_DS034092,"NCI: A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO: A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)."
+BMGC_DS08744,BMG_DS034093,"ORPHANET: A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity. | MONDO: A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)"
+BMGC_DS08745,BMG_DS034094,"NCI: A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage. | MONDO: A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage."
+BMGC_DS08746,BMG_DS034095,NCI: A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium. | MONDO: A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.
+BMGC_DS08747,BMG_DS034096,NCI: A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces. | MONDO: A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces.
+BMGC_DS08748,BMG_DS034097,NCI: An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes. | MONDO: An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.
+BMGC_DS08749,BMG_DS034098,"NCI: A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO) | MONDO: A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)"
+BMGC_DS08750,BMG_DS034099,"NCI: Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis. | MONDO: Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis."
+BMGC_DS08751,BMG_DS034100,"NCI: A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classic Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classic Hodgkin lymphoma. | MONDO: A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma."
+BMGC_DS08752,BMG_DS034105,NCI: An angiomyolipoma arising from the liver. | MONDO: An angiomyolipoma arising from the liver.
+BMGC_DS08753,BMG_DS034106,NCI: A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort. | MONDO: A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort.
+BMGC_DS08754,BMG_DS034107,NCI: A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. | MONDO: A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
+BMGC_DS08755,BMG_DS034108,"NCI: A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. | MONDO: A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells."
+BMGC_DS08756,BMG_DS034109,"NCI: A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS08757,BMG_DS034110,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08758,BMG_DS034111,NCI: A rare benign adipose tissue neoplasm of the liver. | MONDO: A rare benign adipose tissue neoplasm of the liver.
+BMGC_DS08759,BMG_DS034113,NCI: An osteosarcoma arising from the liver. | MONDO: An osteosarcoma arising from the liver.
+BMGC_DS08760,BMG_DS034114,NCI: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver. | MONDO: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver.
+BMGC_DS08761,BMG_DS034115,"NCI: A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma. | MONDO: A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma."
+BMGC_DS08762,BMG_DS034116,"MONDO: An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis."
+BMGC_DS08763,BMG_DS034117,"NCI: Hereditary clear cell renal cell carcinoma associated with biallelic loss/inactivation of the von Hippel-Lindau tumor suppressor gene. | MONDO: A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common."
+BMGC_DS08764,BMG_DS034118,NCI: A familial glomus tumor.
+BMGC_DS08765,BMG_DS034119,NCI: A meningioma that is transmitted from the parents to an offspring.
+BMGC_DS08766,BMG_DS034120,"MONDO: Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age."
+BMGC_DS08767,BMG_DS034121,"MONDO: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene. | MeSH: Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME."
+BMGC_DS08768,BMG_DS034122,NCI: Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma. | MONDO: Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma.
+BMGC_DS08769,BMG_DS034123,NCI: Gastritis resulting from herpes virus. | MONDO: Gastritis resulting from herpes virus.
+BMGC_DS08770,BMG_DS034126,"NCI: A group of rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. This category includes the following: Langerhans cell histiocytosis, Langerhans cell sarcoma, indeterminate dendritic cell histiocytosis, interdigitating dendritic cell sarcoma, histiocytic sarcoma, disseminated juvenile xanthogranuloma, Erdheim-Chester disease, Rosai-Dorfman-Destombes disease, ALK-positive histiocytosis, and follicular dendritic cell sarcoma. | MONDO: Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001)"
+BMGC_DS08771,BMG_DS034129,MONDO: Sarcoidosis with a complication of hypercalcemia.
+BMGC_DS08772,BMG_DS034130,
+BMGC_DS08773,BMG_DS034132,
+BMGC_DS08774,BMG_DS034133,NCI: An immature teratoma that arises from the stomach. | MONDO: A malignant teratoma that arises from the stomach.
+BMGC_DS08775,BMG_DS034136,NCI: A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells. | MONDO: A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells.
+BMGC_DS08776,BMG_DS034137,NCI: An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells. | MONDO: An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells.
+BMGC_DS08777,BMG_DS034138,NCI: Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. | MONDO: Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.
+BMGC_DS08778,BMG_DS034139,NCI: Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. | MONDO: Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.
+BMGC_DS08779,BMG_DS034140,NCI: Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. | MONDO: Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.
+BMGC_DS08780,BMG_DS034142,NCI: A meningioma that affects the internal auditory canal. | MONDO: A meningioma that affects the internal auditory canal.
+BMGC_DS08781,BMG_DS034143,NCI: A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO: A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
+BMGC_DS08782,BMG_DS034144,NCI: A cystic meningioma that grows within the cerebral hemispheres. | MONDO: A cystic meningioma that grows within the cerebral hemispheres.
+BMGC_DS08783,BMG_DS034145,NCI: A cavernous hemangioma arising from the brain and meninges. | MONDO: A cavernous hemangioma arising from the brain and meninges.
+BMGC_DS08784,BMG_DS034146,NCI: An extraskeletal myxoid chondrosarcoma arising from the brain. | MONDO: An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.
+BMGC_DS08785,BMG_DS034147,NCI: A liposarcoma arising from the brain. | MONDO: A malignant adipose tissue neoplasm of the intracranial region.
+BMGC_DS08786,BMG_DS034151,NCI: A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by the presence of fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and papillary ductal carcinoma in situ. | MONDO: A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma.
+BMGC_DS08787,BMG_DS034152,
+BMGC_DS08788,BMG_DS034153,"NCI: A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression. | MONDO: A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression."
+BMGC_DS08789,BMG_DS034154,NCI: A mucinous cystic neoplasm that arises from the intrahepatic bile ducts. | MONDO: A mucinous cystic neoplasm that arises from the intrahepatic bile ducts.
+BMGC_DS08790,BMG_DS034155,"NCI: An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic bile ducts. | MONDO: A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts."
+BMGC_DS08791,BMG_DS034156,
+BMGC_DS08792,BMG_DS034157,NCI: A meningioma that affects the intraorbital structures. | MONDO: A meningioma that affects the intraorbital structures.
+BMGC_DS08793,BMG_DS034158,NCI: A meningioma that arises from the spinal meninges. | MONDO: A meningioma that arises from the spinal meninges.
+BMGC_DS08794,BMG_DS034159,NCI: A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels. | MONDO: A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels.
+BMGC_DS08795,BMG_DS034160,NCI: A meningioma that affects the ventricles of the brain. | MONDO: A meningioma that affects the ventricles of the brain.
+BMGC_DS08796,BMG_DS034163,NCI: An invasive urothelial carcinoma that arises from the urinary bladder urothelium. | MONDO: An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.
+BMGC_DS08797,BMG_DS034164,NCI: An endophytic urothelial neoplasm arising from the urinary tract. It shares several morphologic features with urothelial papilloma. | MONDO: An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas.
+BMGC_DS08798,BMG_DS034165,NCI: A melanoma that arises from the iris. It is characterized by the presence of spindle-shaped melanocytes. | MONDO: A spindle cell melanoma that involves the iris.
+BMGC_DS08799,BMG_DS034167,NCI: A somatostatin-producing neuroendocrine tumor that arises from the jejunum. | MONDO: A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures.
+BMGC_DS08800,BMG_DS034168,NCI: A meningioma that affects the jugular foramen. | MONDO: A meningioma that affects the jugular foramen.
+BMGC_DS08801,BMG_DS034169,NCI: A rare intracranial schwannoma that affects the jugular foramen. | MONDO: A rare intracranial schwannoma that affects the jugular foramen.
+BMGC_DS08802,BMG_DS034171,"NCI: A Kaposi sarcoma arising from the brain, spinal cord, or meninges."
+BMGC_DS08803,BMG_DS034172,"NCI: A benign or malignant, primary or metastatic neoplasm affecting the kidney and ureter."
+BMGC_DS08804,BMG_DS034173,NCI: A carcinoma that arises from the labia majora. | MONDO: A carcinoma that arises from the labia majora.
+BMGC_DS08805,BMG_DS034174,NCI: A carcinoma that arises from the labia minora. | MONDO: A carcinoma that arises from the labia minora.
+BMGC_DS08806,BMG_DS034175,"NCI: A carcinoma that arises from the lacrimal glands. Representative examples include adenocarcinoma, carcinoma ex pleomorphic adenoma, squamous cell carcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma. | MONDO: A carcinoma that arises from epithelial cells of the lacrimal gland."
+BMGC_DS08807,BMG_DS034176,NCI: An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells. | MONDO: An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells.
+BMGC_DS08808,BMG_DS034178,NCI: A benign or malignant neoplasm that affects the lacrimal gland or the lacrimal drainage system. | MONDO: A cancer that involves the lacrimal apparatus.
+BMGC_DS08809,BMG_DS034179,"NCI: A benign, well-circumscribed skin squamous lesion characterized by the presence of enlarged keratinocytes with nuclei twice the normal size. (WHO 2018)"
+BMGC_DS08810,BMG_DS034180,NCI: A high grade carcinoma that arises from the lung and is characterized by the presence of large neuroendocrine cells. It usually has an aggressive clinical course. | MONDO: A large cell neuroendocrine carcinoma that involves the lung(s).
+BMGC_DS08811,BMG_DS034181,"NCI: A large cell neuroendocrine carcinoma arising from the thymus. | MONDO: An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis."
+BMGC_DS08812,BMG_DS034182,NCI: A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases. | MONDO: A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases.
+BMGC_DS08813,BMG_DS034183,"NCI: A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS08814,BMG_DS034184,"NCI: A leiomyosarcoma that arises from the larynx. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08815,BMG_DS034185,"NCI: A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement. | MONDO: A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement."
+BMGC_DS08816,BMG_DS034186,NCI: A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms. | MONDO: A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms.
+BMGC_DS08817,BMG_DS034187,"NCI: A neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes neuroendocrine tumors, neuroendocrine carcinomas, and paragangliomas. | MONDO: A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma."
+BMGC_DS08818,BMG_DS034188,NCI: A rare sarcoma that arises from soft tissue or hyaline cartilage of the larynx. | MONDO: A rare malignant soft tissue neoplasm that arises from the larynx.
+BMGC_DS08819,BMG_DS034189,NCI: A small cell neuroendocrine carcinoma that arises from the larynx. | MONDO: A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course.
+BMGC_DS08820,BMG_DS034190,NCI: A meningioma that affects the lateral ventricle of the brain. | MONDO: A meningioma that affects the lateral ventricle of the brain.
+BMGC_DS08821,BMG_DS034193,NCI: A melanoma that arises from leptomeningeal melanocytes. | MONDO: A melanoma that arises from leptomeningeal melanocytes.
+BMGC_DS08822,BMG_DS034194,NCI: Ewing sarcoma that is confined to a specific area of the bone and has not spread to other anatomic sites.
+BMGC_DS08823,BMG_DS034195,"NCI: A small round cell tumor with neural differentiation, confined to a specific site without evidence of spread to other anatomic sites."
+BMGC_DS08824,BMG_DS034196,NCI: A primitive neuroectodermal tumor that is confined to a specific site without evidence of spread to other anatomic sites.
+BMGC_DS08825,BMG_DS034198,NCI: A meningioma that affects the lower clivus. | MONDO: A meningioma that affects the lower clivus.
+BMGC_DS08826,BMG_DS034199,NCI: A meningioma that arises from the meninges of the lumbar region of the spinal cord. | MONDO: A meningioma that arises from the meninges of the lumbar region of the spinal cord.
+BMGC_DS08827,BMG_DS034200,MONDO: A neoplasm (disease) that involves the lumbar nerve plexus.
+BMGC_DS08828,BMG_DS034202,"NCI: A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain. | MONDO: A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain."
+BMGC_DS08829,BMG_DS034204,NCI: A lung carcinoma arising from the hilum of the lung. | MONDO: A lung carcinoma arising from the hilum of the lung.
+BMGC_DS08830,BMG_DS034205,"NCI: A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS08831,BMG_DS034206,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08832,BMG_DS034207,NCI: A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas. | MONDO: A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas.
+BMGC_DS08833,BMG_DS034208,"MONDO: A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma."
+BMGC_DS08834,BMG_DS034210,
+BMGC_DS08835,BMG_DS034211,NCI: A Kaposi sarcoma affecting the lymph nodes.
+BMGC_DS08836,BMG_DS034212,
+BMGC_DS08837,BMG_DS034213,NCI: An epithelial hepatoblastoma characterized by the presence of broad trabeculae. | MONDO: A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae.
+BMGC_DS08838,BMG_DS034218,"NCI: ACTH-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site. | MONDO: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease."
+BMGC_DS08839,BMG_DS034219,NCI: A malignant brain neoplasm occurring in adults.
+BMGC_DS08840,BMG_DS034220,"NCI: A solitary fibrous tumor, grade 3 that arises from the brain and occurs in adults. | MONDO: A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population."
+BMGC_DS08841,BMG_DS034221,NCI: A malignant neoplasm involving the aorta. | MONDO: A cancer that involves the aorta.
+BMGC_DS08842,BMG_DS034222,NCI: A malignant neoplasm involving the apocrine gland. | MONDO: A malignant neoplasm involving the apocrine sweat gland.
+BMGC_DS08843,BMG_DS034223,"NCI: An adenomyoepithelioma of the breast in which the epithelial, myoepithelial, or both components have undergone malignant transformation. Such cases may follow an aggressive clinical course, including recurrences and local and distant metastases."
+BMGC_DS08844,BMG_DS034224,NCI: A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast. | MONDO: A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast.
+BMGC_DS08845,BMG_DS034225,NCI: A rare malignant germ cell tumor that arises within the myocardium or cardiac chambers. | MONDO: A rare malignant germ cell tumor that arises from the pericardium.
+BMGC_DS08846,BMG_DS034226,NCI: A malignant hemangiopericytoma arising in the heart. | MONDO: A malignant hemangiopericytoma arising in the heart.
+BMGC_DS08847,BMG_DS034227,NCI: A very rare malignant peripheral nerve sheath tumor that arises from the heart. | MONDO: A very rare malignant peripheral nerve sheath tumor that arises from the heart.
+BMGC_DS08848,BMG_DS034229,"NCI: An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor. | MONDO: An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor."
+BMGC_DS08849,BMG_DS034230,NCI: A malignant germ cell tumor that occurs during childhood. | MONDO: A malignant germ cell tumor that occurs during childhood.
+BMGC_DS08850,BMG_DS034231,NCI: A malignant granular cell tumor that arises from the skin.
+BMGC_DS08851,BMG_DS034232,NCI: A malignant neoplasm that occurs in the diencephalon. | MONDO: A cancer involving a diencephalon.
+BMGC_DS08852,BMG_DS034233,NCI: A malignant neoplasm involving the eccrine glands. | MONDO: An cancer with eccrine differentiation arising from the sweat glands.B
+BMGC_DS08853,BMG_DS034234,NCI: A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. | MONDO: A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.
+BMGC_DS08854,BMG_DS034235,NCI: A malignant nongerminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. | MONDO: A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.
+BMGC_DS08855,BMG_DS034237,NCI: A metastasizing granular cell tumor that arises from the stomach. | MONDO: A metastasizing granular cell tumor that arises from the stomach.
+BMGC_DS08856,BMG_DS034238,"NCI: Growth hormone-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site. | MONDO: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly."
+BMGC_DS08857,BMG_DS034239,NCI: A primary or metastatic malignant tumor involving the leptomeninges. | MONDO: A primary or metastatic malignant tumor involving the leptomeninges.
+BMGC_DS08858,BMG_DS034241,NCI: A malignant hemangiopericytoma arising in the mediastinum. | MONDO: A malignant hemangiopericytoma arising in the mediastinum.
+BMGC_DS08859,BMG_DS034243,NCI: A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin. | MONDO: A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.
+BMGC_DS08860,BMG_DS034244,NCI: A mixed epithelial stromal tumor of the kidney with malignant stromal features. | MONDO: A mixed epithelial stromal tumor of the kidney with malignant stromal features.
+BMGC_DS08861,BMG_DS034245,"MeSH: A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)"
+BMGC_DS08862,BMG_DS034247,"NCI: A malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels, and cytologic atypia."
+BMGC_DS08863,BMG_DS034248,"NCI: A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor. | MONDO: A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor."
+BMGC_DS08864,BMG_DS034249,"NCI: Prolactin-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site. | MONDO: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin."
+BMGC_DS08865,BMG_DS034250,NCI: An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia. | MONDO: An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.
+BMGC_DS08866,BMG_DS034251,NCI: A malignant neoplasm involving the pulmonary artery.
+BMGC_DS08867,BMG_DS034252,NCI: A malignant neoplasm involving the pulmonary vein.
+BMGC_DS08868,BMG_DS034254,NCI: A malignant neoplasm arising from skeletal muscle. | MONDO: A malignant neoplasm arising from skeletal muscle.
+BMGC_DS08869,BMG_DS034255,NCI: A malignant neoplasm arising from smooth muscle. | MONDO: A malignant neoplasm arising from smooth muscle.
+BMGC_DS08870,BMG_DS034256,NCI: A malignant neoplasm that affects the synovium. | MONDO: A cancer that involves the layer of synovial tissue.
+BMGC_DS08871,BMG_DS034257,"NCI: A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor. | MONDO: A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor."
+BMGC_DS08872,BMG_DS034258,"NCI: TSH-producing pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site. | MONDO: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin."
+BMGC_DS08873,BMG_DS034259,"NCI: A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma. | MONDO: A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma."
+BMGC_DS08874,BMG_DS034260,
+BMGC_DS08875,BMG_DS034261,"NCI: A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma. | MONDO: A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma."
+BMGC_DS08876,BMG_DS034262,"NCI: A neoplasm that arises from mature B-lymphocytes or plasma cells. Representative examples include mature B-cell non-Hodgkin lymphomas, chronic lymphocytic leukemia, hairy cell leukemia, plasma cell neoplasms, and B-cell proliferations of uncertain malignant potential. | MONDO: A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001)."
+BMGC_DS08877,BMG_DS034263,NCI: A benign teratoma that arises from the stomach. It contains mature tissue elements only. | MONDO: A benign teratoma that arises from the stomach.
+BMGC_DS08878,BMG_DS034264,"MONDO: An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues."
+BMGC_DS08879,BMG_DS034267,NCI: An adenocarcinoma that arises from the maxillary sinus. | MONDO: An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs.
+BMGC_DS08880,BMG_DS034268,NCI: An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course. | MONDO: An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.
+BMGC_DS08881,BMG_DS034269,"NCI: A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment. | MONDO: A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment."
+BMGC_DS08882,BMG_DS034270,NCI: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. | MONDO: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.
+BMGC_DS08883,BMG_DS034271,NCI: A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. | MONDO: A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma.
+BMGC_DS08884,BMG_DS034272,"NCI: A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. | MONDO: A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis."
+BMGC_DS08885,BMG_DS034273,NCI: A malignant vascular neoplasm arising from the mediastinum. | MONDO: A malignant vascular neoplasm arising from the mediastinum.
+BMGC_DS08886,BMG_DS034274,NCI: A ganglioneuroblastoma arising from the mediastinum. | MONDO: A ganglioneuroblastoma arising from the mediastinum.
+BMGC_DS08887,BMG_DS034275,"NCI: A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor. | MONDO: A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor."
+BMGC_DS08888,BMG_DS034276,"NCI: An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum. | MONDO: An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum."
+BMGC_DS08889,BMG_DS034277,"NCI: A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classic Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classic Hodgkin lymphomas are related entities. | MONDO: A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities."
+BMGC_DS08890,BMG_DS034279,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08891,BMG_DS034280,NCI: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum. | MONDO: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum.
+BMGC_DS08892,BMG_DS034281,"NCI: A liposarcoma that arises from the mediastinum. | MONDO: A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum."
+BMGC_DS08893,BMG_DS034282,NCI: A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. | MONDO: A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.
+BMGC_DS08894,BMG_DS034283,NCI: A melanotic schwannoma that affects the mediastinum. | MONDO: A melanotic schwannoma that affects the mediastinum.
+BMGC_DS08895,BMG_DS034284,"NCI: A benign or malignant mesenchymal neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma. | MONDO: A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma."
+BMGC_DS08896,BMG_DS034285,"NCI: A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma. | MONDO: A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma."
+BMGC_DS08897,BMG_DS034286,NCI: A neuroblastoma arising from the mediastinum. | MONDO: A neuroblastoma arising from the mediastinum.
+BMGC_DS08898,BMG_DS034287,NCI: A neurofibroma that arises from the posterior mediastinum. Excision is usually curative. | MONDO: A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.
+BMGC_DS08899,BMG_DS034288,NCI: An osteosarcoma arising from the mediastinum. | MONDO: An osteosarcoma arising from the mediastinum.
+BMGC_DS08900,BMG_DS034289,NCI: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum. | MONDO: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.
+BMGC_DS08901,BMG_DS034290,"NCI: A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma. | MONDO: A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma."
+BMGC_DS08902,BMG_DS034291,NCI: A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative. | MONDO: A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.
+BMGC_DS08903,BMG_DS034292,"NCI: An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors. | MONDO: An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors."
+BMGC_DS08904,BMG_DS034293,NCI: A synovial sarcoma arising from the mediastinum. | MONDO: A synovial sarcoma arising from the mediastinum.
+BMGC_DS08905,BMG_DS034294,HPO: A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs). [https://orcid.org/0000-0002-0003-6754] | MONDO: A teratoma that involves the mediastinum.
+BMGC_DS08906,BMG_DS034296,NCI: A condition characterized by multiple melanomas.
+BMGC_DS08907,BMG_DS034297,NCI: A neoplasm that arises from meningothelial cells. This category refers to meningiomas.
+BMGC_DS08908,BMG_DS034298,"NCI: A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. | MONDO: A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma."
+BMGC_DS08909,BMG_DS034299,NCI: A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites. | MONDO: A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites.
+BMGC_DS08910,BMG_DS034300,NCI: Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. | MONDO: Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor.
+BMGC_DS08911,BMG_DS034301,"SNOMEDCT_US: A rare aggressive subtype of invasive breast carcinoma characterized by rapid growth, relatively large tumor size and a tendency to metastasize to distant organs, particularly the lungs, with relatively less frequent involvement of the axillary lymph nodes. Histologically, the tumor shows high-grade cellularity and heterologous differentiation, including chondroid, osseous, pleomorphic/sarcomatoid, spindled, and squamous elements. Patients usually present with a fast-growing, large, well-circumscribed, mobile lump in the breast, which can become painful and involve the chest wall and the skin, leading to ulceration. | MONDO: A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells."
+BMGC_DS08912,BMG_DS034302,NCI: A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site. | MONDO: A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site.
+BMGC_DS08913,BMG_DS034303,"SNOMEDCT_US: Rare immunodeficiency-associated lymphoproliferative disease with characteristics of lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. | MONDO: Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients."
+BMGC_DS08914,BMG_DS034304,NCI: A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia. | MONDO: A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia.
+BMGC_DS08915,BMG_DS034305,NCI: A meningioma that affects the middle cranial fossa. | MONDO: A meningioma that affects the middle cranial fossa.
+BMGC_DS08916,BMG_DS034306,NCI: A rare adenocarcinoma that arises from the middle ear. | MONDO: A carcinoma that arises from glandular epithelial cells of the middle ear
+BMGC_DS08917,BMG_DS034308,NCI: A carcinoma that arises from the middle ear. This category includes adenocarcinoma and squamous cell carcinoma. | MONDO: A carcinoma that arises from epithelial cells of the middle ear
+BMGC_DS08918,BMG_DS034309,NCI: A rare squamous cell carcinoma that arises from the middle ear. | MONDO: A rare squamous cell carcinoma that arises from the middle ear.
+BMGC_DS08919,BMG_DS034313,"NCI: A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. | MONDO: A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells."
+BMGC_DS08920,BMG_DS034314,NCI: A subtype of hepatoblastoma characterized by the presence of epithelial and mesenchymal components. | MONDO: A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component.
+BMGC_DS08921,BMG_DS034316,NCI: A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma. | MONDO: A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma.
+BMGC_DS08922,BMG_DS034317,NCI: A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only. | MONDO: A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.
+BMGC_DS08923,BMG_DS034318,"MONDO: An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis."
+BMGC_DS08924,BMG_DS034319,NCI: A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools. | MONDO: A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.
+BMGC_DS08925,BMG_DS034321,NCI: A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare. | MONDO: A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare.
+BMGC_DS08926,BMG_DS034322,"NCI: A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. The prognosis depends on histologic grade and stage. | MONDO: A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports."
+BMGC_DS08927,BMG_DS034323,"NCI: Castleman disease characterized by fever, generalized lymphadenopathy, hypergammaglobulinemia, and dysfunction of multiple organs. Other signs and symptoms include anemia, thrombocytopenia, hepatomegaly, peripheral neuropathy and pleural effusions. Morphologically, in the majority of cases the lymph nodes show features of Castleman disease of the plasma cell type. In a minority of cases, changes of Castleman disease of the hyaline-vascular type are seen. In contrast to patients with localized disease who are usually cured following resection of the lesion, patients with the multicentric form of the disease may follow a progressive clinical course, complicated by infection, Kaposi sarcoma, or lymphoma. | MONDO: Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein."
+BMGC_DS08928,BMG_DS034324,NCI: A papillary carcinoma arising in the thyroid gland from multiple foci. | MONDO: A papillary carcinoma arising from the thyroid gland from multiple foci.
+BMGC_DS08929,BMG_DS034326,NCI: A primary bone osteosarcoma affecting multiple bone sites. | MONDO: A primary bone osteosarcoma affecting multiple bone sites.
+BMGC_DS08930,BMG_DS034327,NCI: Multiple meningiomas that arises from the spinal meninges. | MONDO: Multiple meningiomas that arises from the spinal meninges.
+BMGC_DS08931,BMG_DS034328,"HPO: Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. [PMID:16702501]"
+BMGC_DS08932,BMG_DS034329,NCI: Multiple meningiomas that affect the skull base. | MONDO: Multiple meningiomas that affect the skull base.
+BMGC_DS08933,BMG_DS034330,NCI: An adenocarcinoma that arises from the nasal cavity. | MONDO: A carcinoma that arises from glandular epithelial cells of the nasal cavity
+BMGC_DS08934,BMG_DS034331,NCI: A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area. | MONDO: A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.
+BMGC_DS08935,BMG_DS034332,NCI: An olfactory neuroblastoma arising in the nasal cavity. | MONDO: An olfactory neuroblastoma arising in the nasal cavity.
+BMGC_DS08936,BMG_DS034334,NCI: A carcinoma that arises from the anatomic structures of the neck region.
+BMGC_DS08937,BMG_DS034336,MONDO: A neoplasm (disease) that involves the nerve plexus.
+BMGC_DS08938,BMG_DS034337,"NCI: Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression. | MONDO: Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression."
+BMGC_DS08939,BMG_DS034339,NCI: A morphologic category that includes neoplasms arising from cells that form and support the nervous system. Such neoplasms include neuroepithelial cell neoplasms and neoplasms that arise from the perineural sheaths (perineurial cell neoplasms and Schwann cell neoplasms).
+BMGC_DS08940,BMG_DS034340,"NCI: A low-grade neoplasm that arises from the neurohypophysis. It includes pituicytoma, granular cell tumor of the sellar region, spindle cell oncocytoma, and ependymal pituicytoma. | MONDO: A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma."
+BMGC_DS08941,BMG_DS034341,NCI: A carcinoma that arises in the area of the nipple. Representative examples include Paget disease and skin squamous cell carcinoma. | MONDO: A carcinoma that arises from epithelial cells of the nipple
+BMGC_DS08942,BMG_DS034342,NCI: A carcinoma that develops in the ducts of the nipple. | MONDO: A carcinoma that develops in the ducts of the nipple.
+BMGC_DS08943,BMG_DS034345,"NCI: A medulloblastoma characterized by nodularity and neuronal differentiation. | MONDO: Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis."
+BMGC_DS08944,BMG_DS034347,"NCI: A well differentiated, low, intermediate, or high grade neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. | MONDO: A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome."
+BMGC_DS08945,BMG_DS034348,
+BMGC_DS08946,BMG_DS034349,
+BMGC_DS08947,BMG_DS034350,"NCI: A non-neoplastic disorder that affects the male or female reproductive system. Representative examples include prostatitis, balanitis, phimosis, endometriosis, and pelvic inflammatory disease."
+BMGC_DS08948,BMG_DS034351,"NCI: A non-neoplastic disorder that affects the urinary system. Representative examples include urinary tract infections, urolithiasis, and acute kidney insufficiency."
+BMGC_DS08949,BMG_DS034353,NCI: A carcinoma characterized by the presence of large adenocarcinoma cells.
+BMGC_DS08950,BMG_DS034354,NCI: Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present. | MONDO: Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present.
+BMGC_DS08951,BMG_DS034355,NCI: Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. | MONDO: Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.
+BMGC_DS08952,BMG_DS034356,NCI: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present. | MONDO: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present.
+BMGC_DS08953,BMG_DS034357,NCI: A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor. | MONDO: A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.
+BMGC_DS08954,BMG_DS034358,"NCI: A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. | MONDO: A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed."
+BMGC_DS08955,BMG_DS034359,"NCI: A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. | MONDO: A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed."
+BMGC_DS08956,BMG_DS034360,"NCI: A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. | MONDO: A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed."
+BMGC_DS08957,BMG_DS034361,"NCI: A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. | MONDO: A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed."
+BMGC_DS08958,BMG_DS034362,NCI: A meningioma that affects the olfactory sulcus. | MONDO: A meningioma that affects the olfactory sulcus.
+BMGC_DS08959,BMG_DS034364,NCI: An astrocytoma occurring in the optic nerve. | MONDO: A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.
+BMGC_DS08960,BMG_DS034365,NCI: A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma. | MONDO: A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma.
+BMGC_DS08961,BMG_DS034366,NCI: A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features. | MONDO: A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features.
+BMGC_DS08962,BMG_DS034367,NCI: A hemangioma arising from the orbit. | MONDO: A hemangioma arising from the orbit.
+BMGC_DS08963,BMG_DS034368,NCI: A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas. | MONDO: A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.
+BMGC_DS08964,BMG_DS034371,NCI: An osteosarcoma arising from the breast tissue. | MONDO: An osteosarcoma arising from the breast tissue.
+BMGC_DS08965,BMG_DS034373,NCI: A malignant vascular neoplasm arising from the ovary. | MONDO: A malignant vascular neoplasm arising from the ovary.
+BMGC_DS08966,BMG_DS034374,NCI: A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst. | MONDO: A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.
+BMGC_DS08967,BMG_DS034376,"NCI: A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells."
+BMGC_DS08968,BMG_DS034377,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS08969,BMG_DS034378,NCI: A liposarcoma that arises from the ovary. | MONDO: A malignant adipose tissue neoplasm of the ovary.
+BMGC_DS08970,BMG_DS034379,"NCI: An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations. | MONDO: An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations."
+BMGC_DS08971,BMG_DS034380,"HPO: Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. [PMID:24777667] | MONDO: A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract."
+BMGC_DS08972,BMG_DS034381,NCI: A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases. | MONDO: A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases.
+BMGC_DS08973,BMG_DS034382,"NCI: A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. | MONDO: A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma."
+BMGC_DS08974,BMG_DS034383,"NCI: An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. This category includes neuroendocrine tumors and neuroendocrine carcinomas. | MONDO: An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma."
+BMGC_DS08975,BMG_DS034384,NCI: A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor. | MONDO: A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor.
+BMGC_DS08976,BMG_DS034385,NCI: A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts. | MONDO: A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.
+BMGC_DS08977,BMG_DS034386,NCI: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries. | MONDO: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.
+BMGC_DS08978,BMG_DS034387,"NCI: An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. | MONDO: An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia."
+BMGC_DS08979,BMG_DS034388,NCI: A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. | MONDO: A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.
+BMGC_DS08980,BMG_DS034389,NCI: A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present. | MONDO: A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.
+BMGC_DS08981,BMG_DS034390,NCI: A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary. | MONDO: A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary.
+BMGC_DS08982,BMG_DS034391,NCI: A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. | MONDO: A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present.
+BMGC_DS08983,BMG_DS034393,NCI: A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma. | MONDO: A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.
+BMGC_DS08984,BMG_DS034394,"NCI: An ectopic ACTH producing pancreatic neuroendocrine tumor. It may be associated with Cushing syndrome. Most patients present with metastases at the time of diagnosis and the prognosis is usually poor. | MONDO: A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor."
+BMGC_DS08985,BMG_DS034395,"NCI: A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning). | MONDO: A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning)."
+BMGC_DS08986,BMG_DS034396,"MONDO: An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor."
+BMGC_DS08987,BMG_DS034397,NCI: A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm. | MONDO: A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm.
+BMGC_DS08988,BMG_DS034398,"ORPHANET: Intraductal papillary mucinous carcinoma of pancreas is a rare epithelial tumor of pancreas characterized by malignant, mucin-producing cystic mass, originating from the pancreatic ductal system, associated with local invasion and metastatic spread, composed of mucin-producing, columnar epithelial cells covering the dilated pancreatic ducts with a papillary structure. The presenting symptoms are non-specific and include abdominal pain, pancreatitis, steatorrhea, jaundice and diabetes. Many patients are asymptomatic at the time of diagnosis. | MONDO: A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations."
+BMGC_DS08989,BMG_DS034399,"NCI: A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas. | MONDO: A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. The vast majority of cases are non-Hodgkin lymphomas of B-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large B-cell lymphomas."
+BMGC_DS08990,BMG_DS034400,"NCI: A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass. | MONDO: A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass."
+BMGC_DS08991,BMG_DS034401,
+BMGC_DS08992,BMG_DS034402,NCI: A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. | MONDO: A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome.
+BMGC_DS08993,BMG_DS034403,"SNOMEDCT_US: A very rare malignant epithelial neoplasm of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss. | MONDO: A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain."
+BMGC_DS08994,BMG_DS034404,"NCI: A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss. | MONDO: A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss."
+BMGC_DS08995,BMG_DS034405,NCI: A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern. | MONDO: A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern.
+BMGC_DS08996,BMG_DS034406,NCI: A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern. | MONDO: A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern.
+BMGC_DS08997,BMG_DS034408,NCI: A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures. | MONDO: A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.
+BMGC_DS08998,BMG_DS034409,"NCI: A rare low-grade primary thymic adenocarcinoma characterized by a papillary growth pattern. | MONDO: A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis."
+BMGC_DS08999,BMG_DS034411,NCI: A benign or malignant neoplasm that arises from the urothelial lining of the urinary tract and is characterized by papillary formations. | MONDO: A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003
+BMGC_DS09000,BMG_DS034412,NCI: An adenocarcinoma that arises from the paranasal sinuses.
+BMGC_DS09001,BMG_DS034413,NCI: A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases. | MONDO: A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.
+BMGC_DS09002,BMG_DS034414,"NCI: A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type. | MONDO: A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type."
+BMGC_DS09003,BMG_DS034415,"NCI: A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. | MONDO: A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type."
+BMGC_DS09004,BMG_DS034416,NCI: A malignant soft tissue neoplasm that arises from the paranasal sinus. | MONDO: A malignant soft tissue neoplasm that arises from the paranasal sinus.
+BMGC_DS09005,BMG_DS034418,NCI: A lipoma that arises from the paratesticular region. It is the most common paratesticular mesenchymal neoplasm. | MONDO: A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.
+BMGC_DS09006,BMG_DS034420,NCI: A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm. | MONDO: A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm.
+BMGC_DS09007,BMG_DS034421,NCI: An adenocarcinoma arising in the accessory urethral glands.
+BMGC_DS09008,BMG_DS034427,NCI: A Kaposi sarcoma arising from the penis.
+BMGC_DS09009,BMG_DS034428,NCI: An adenocarcinoma that arises from the periampullary region. | MONDO: An adenocarcinoma that arises from the periampullary region.
+BMGC_DS09010,BMG_DS034430,HPO: A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart). [https://orcid.org/0009-0006-4530-3154] | MONDO: A rare neoplasm of mesothelial origin that arises from the pericardium.
+BMGC_DS09011,BMG_DS034432,NCI: A meningioma that affects the periocular region. | MONDO: A meningioma that affects the periocular region.
+BMGC_DS09012,BMG_DS034433,NCI: A ganglioneuroblastoma arising from the peripheral nervous system. | MONDO: A ganglioneuroblastoma arising from the peripheral nervous system.
+BMGC_DS09013,BMG_DS034434,NCI: A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic. | MONDO: A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic.
+BMGC_DS09014,BMG_DS034435,NCI: A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. | MONDO: A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels.
+BMGC_DS09015,BMG_DS034436,NCI: A meningioma that affects the petroclival region. | MONDO: A meningioma that affects the petroclival region.
+BMGC_DS09016,BMG_DS034437,NCI: A meningioma that affects the petrous apex. | MONDO: A meningioma that affects the petrous apex.
+BMGC_DS09017,BMG_DS034442,MONDO: A choriocarcinoma (disease) that involves the pineal body.
+BMGC_DS09018,BMG_DS034443,MONDO: A dysgerminoma (disease) that involves the pineal body.
+BMGC_DS09019,BMG_DS034444,
+BMGC_DS09020,BMG_DS034445,NCI: A mature teratoma that arises from the pineal region.
+BMGC_DS09021,BMG_DS034446,NCI: A meningioma that affects the pineal gland. | MONDO: A meningioma that affects the pineal gland.
+BMGC_DS09022,BMG_DS034447,NCI: A mature or immature teratoma that arises in the pineal region. | MONDO: A mature or immature teratoma that arises in the pineal region.
+BMGC_DS09023,BMG_DS034448,MONDO: A yolk sac tumor that involves the pineal body.
+BMGC_DS09024,BMG_DS034449,NCI: A meningioma that affects the pituitary stalk. | MONDO: A meningioma that affects the pituitary stalk.
+BMGC_DS09025,BMG_DS034450,"NCI: A non-neoplastic disorder that arises from the placenta. Representative examples include chorioamnionitis, infarction, and malformations."
+BMGC_DS09026,BMG_DS034452,NCI: A benign schwannoma occurring in the pleura. | MONDO: A schwannoma that involves the pleura.
+BMGC_DS09027,BMG_DS034453,
+BMGC_DS09028,BMG_DS034454,NCI: A meningioma that affects the posterior foramen magnum. | MONDO: A meningioma that affects the posterior foramen magnum.
+BMGC_DS09029,BMG_DS034455,NCI: A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. | MONDO: A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003
+BMGC_DS09030,BMG_DS034457,NCI: A chondrosarcoma arising from the central portion of bone without a benign precursor.
+BMGC_DS09031,BMG_DS034459,NCI: A rare extracranial meningioma that arises from the skin.
+BMGC_DS09032,BMG_DS034461,NCI: A rare meningioma that is present in the lung without clinical or radiologic evidence of central nervous system involvement.
+BMGC_DS09033,BMG_DS034462,NCI: An adenoid cystic carcinoma that arises from the prostate gland. | MONDO: An adenoid cystic carcinoma that arises from the prostate gland.
+BMGC_DS09034,BMG_DS034463,NCI: An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones. | MONDO: An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones.
+BMGC_DS09035,BMG_DS034464,NCI: A malignant vascular neoplasm arising from the prostate. | MONDO: A malignant vascular neoplasm arising from the prostate.
+BMGC_DS09036,BMG_DS034465,NCI: An embryonal rhabdomyosarcoma arising from the prostate gland. | MONDO: A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features.
+BMGC_DS09037,BMG_DS034466,NCI: A Kaposi sarcoma arising from the prostate.
+BMGC_DS09038,BMG_DS034468,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS09039,BMG_DS034469,NCI: A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland. | MONDO: A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland.
+BMGC_DS09040,BMG_DS034470,NCI: Acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin. | MONDO: A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.
+BMGC_DS09041,BMG_DS034471,NCI: A neoplasm with neuroendocrine differentiation that arises from the prostate gland. | MONDO: A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas.
+BMGC_DS09042,BMG_DS034472,NCI: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate. | MONDO: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate.
+BMGC_DS09043,BMG_DS034473,
+BMGC_DS09044,BMG_DS034474,"NCI: A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism. | MONDO: A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism."
+BMGC_DS09045,BMG_DS034475,"NCI: An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma. | MONDO: An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma."
+BMGC_DS09046,BMG_DS034477,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS09047,BMG_DS034478,NCI: A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. | MONDO: A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor.
+BMGC_DS09048,BMG_DS034479,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS09049,BMG_DS034480,"NCI: A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing. | MONDO: A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing."
+BMGC_DS09050,BMG_DS034483,NCI: A Kaposi sarcoma arising from the rectum. | MONDO: A Kaposi sarcoma arising from the rectum.
+BMGC_DS09051,BMG_DS034484,"NCI: A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS09052,BMG_DS034485,NCI: An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells.
+BMGC_DS09053,BMG_DS034486,NCI: A benign adipose tissue neoplasm of the rectum. | MONDO: A benign adipose tissue neoplasm of the rectum.
+BMGC_DS09054,BMG_DS034487,NCI: An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas. | MONDO: An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas.
+BMGC_DS09055,BMG_DS034488,NCI: A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms).
+BMGC_DS09056,BMG_DS034489,NCI: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum. | MONDO: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum.
+BMGC_DS09057,BMG_DS034490,"NCI: A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. | MONDO: A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma."
+BMGC_DS09058,BMG_DS034491,"NCI: A biphasic rectal carcinoma with a spindle cell, sarcomatoid component. | MONDO: A biphasic rectal carcinoma with a spindle cell, sarcomatoid component."
+BMGC_DS09059,BMG_DS034492,"SNOMEDCT_US: A rare epithelial tumour of the rectum, arising from squamous cells in the rectal epithelium, without the presence of squamous-lined fistulous tracts in the rectum or a proximal extension of squamous cell carcinoma of anal or gynaecological origin. The reported symptoms are often nonspecific, such as anorexia, weight loss, lower abdominal pain, rectal bleeding and changes of bowel habits. | MONDO: A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate."
+BMGC_DS09060,BMG_DS034494,NCI: A hematologic malignancy that is resistant to treatment. | MONDO: A hematologic malignancy that is resistant to treatment.
+BMGC_DS09061,BMG_DS034495,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS09062,BMG_DS034496,NCI: A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. | MONDO: A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.
+BMGC_DS09063,BMG_DS034497,"NCI: A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. | MONDO: A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis."
+BMGC_DS09064,BMG_DS034498,NCI: An osteosarcoma arising from the kidney. | MONDO: An osteosarcoma arising from the kidney.
+BMGC_DS09065,BMG_DS034499,NCI: Adenocarcinoma that affects the renal pelvis. | MONDO: A carcinoma that arises from glandular epithelial cells of the renal pelvis
+BMGC_DS09066,BMG_DS034500,NCI: A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. | MONDO: A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.
+BMGC_DS09067,BMG_DS034501,NCI: An endophytic urothelial neoplasm arising from the renal pelvis. It shares several morphologic features with urothelial papilloma. | MONDO: A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue.
+BMGC_DS09068,BMG_DS034502,NCI: An invasive urothelial carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. | MONDO: An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features.
+BMGC_DS09069,BMG_DS034503,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the renal vein. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS09070,BMG_DS034504,NCI: A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma. | MONDO: A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma.
+BMGC_DS09071,BMG_DS034505,MONDO: A germ cell tumor that involves the retroperitoneal space.
+BMGC_DS09072,BMG_DS034506,NCI: A benign or malignant hemangiopericytoma arising from the retroperitoneum. | MONDO: A benign or malignant hemangiopericytoma arising from the retroperitoneum.
+BMGC_DS09073,BMG_DS034507,NCI: A lymphoma involving the retroperitoneal area. | MONDO: A lymphoma that involves the retroperitoneal space.
+BMGC_DS09074,BMG_DS034508,NCI: A meningioma that arises from the meninges of the sacral region of the spinal cord. | MONDO: A meningioma that arises from the meninges of the sacral region of the spinal cord.
+BMGC_DS09075,BMG_DS034512,NCI: A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells. | MONDO: A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells.
+BMGC_DS09076,BMG_DS034513,"NCI: A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. | MONDO: A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma."
+BMGC_DS09077,BMG_DS034514,NCI: A benign schwannoma occurring in the twelfth cranial nerve. | MONDO: A schwannoma that involves the hypoglossal nerve.
+BMGC_DS09078,BMG_DS034515,"MONDO: The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium."
+BMGC_DS09079,BMG_DS034516,"NCI: Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present. | MONDO: Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present."
+BMGC_DS09080,BMG_DS034517,NCI: A breast papilloma characterized by the presence of predominant sclerosing architectural features. | MONDO: A breast papilloma characterized by the presence of predominant sclerosing architectural features.
+BMGC_DS09081,BMG_DS034518,NCI: A basal cell carcinoma that arises from the scrotum. | MONDO: A scrotal carcinoma that involves the basal cell.
+BMGC_DS09082,BMG_DS034519,NCI: A hemangioma arising from the skin of the scrotum. | MONDO: A hemangioma arising from the skin of the scrotum.
+BMGC_DS09083,BMG_DS034520,NCI: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. | MONDO: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.
+BMGC_DS09084,BMG_DS034522,NCI: An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance. | MONDO: An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance.
+BMGC_DS09085,BMG_DS034523,NCI: A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin. | MONDO: A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.
+BMGC_DS09086,BMG_DS034524,NCI: A benign or malignant mesenchymal neoplasm arising from skeletal muscle. | MONDO: A benign or malignant mesenchymal neoplasm arising from skeletal muscle.
+BMGC_DS09087,BMG_DS034525,NCI: An aggressive variant of skin squamous cell carcinoma. It is characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm. | MONDO: A basaloid squamous cell carcinoma that involves the zone of skin.
+BMGC_DS09088,BMG_DS034526,NCI: A squamous cell carcinoma of the skin histologically resembling a vascular tumor due to extreme acantholysis.
+BMGC_DS09089,BMG_DS034527,"NCI: A chordoma that arises from the base of the skull. | MONDO: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.."
+BMGC_DS09090,BMG_DS034528,NCI: A meningioma that arises from the skull base. | MONDO: A meningioma that arises from the skull base.
+BMGC_DS09091,BMG_DS034529,"NCI: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells. | MONDO: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells."
+BMGC_DS09092,BMG_DS034530,"NCI: A small cell neuroendocrine carcinoma arising from the thymus. | MONDO: An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies."
+BMGC_DS09093,BMG_DS034534,NCI: A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. | MONDO: A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
+BMGC_DS09094,BMG_DS034537,NCI: A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes neuroendocrine tumors (well-differentiated neuroendocrine neoplasms) and neuroendocrine carcinomas (poorly differentiated neuroendocrine neoplasms). | MONDO: A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).
+BMGC_DS09095,BMG_DS034538,"NCI: A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma. | MONDO: A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma."
+BMGC_DS09096,BMG_DS034539,NCI: A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide. | MONDO: A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide.
+BMGC_DS09097,BMG_DS034540,NCI: A usually aggressive malignant neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
+BMGC_DS09098,BMG_DS034541,"NCI: A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma. | MONDO: A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma."
+BMGC_DS09099,BMG_DS034542,"SNOMEDCT_US: A rare carcinoma of the pancreas with characteristics of a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting and weight loss. One-third of the patients are asymptomatic. The neoplasm has low malignant potential but can invade locally. | MONDO: A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues."
+BMGC_DS09100,BMG_DS034544,NCI: A meningioma that affects the sphenocavernous region. | MONDO: A meningioma that affects the sphenocavernous region.
+BMGC_DS09101,BMG_DS034545,NCI: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. | MONDO: A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.
+BMGC_DS09102,BMG_DS034546,NCI: A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. | MONDO: A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma.
+BMGC_DS09103,BMG_DS034547,"NCI: A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. | MONDO: A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis."
+BMGC_DS09104,BMG_DS034548,NCI: A meningioma that affects the sphenoorbital region. | MONDO: A meningioma that affects the sphenoorbital region.
+BMGC_DS09105,BMG_DS034549,NCI: A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion. | MONDO: A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion.
+BMGC_DS09106,BMG_DS034550,NCI: A melanoma that arises from the spinal cord. | MONDO: A melanoma (disease) that involves the spinal cord.
+BMGC_DS09107,BMG_DS034551,NCI: A neuroblastoma that affects the spinal cord. | MONDO: A neuroblastoma that affects the spinal cord.
+BMGC_DS09108,BMG_DS034552,NCI: A neurofibroma that arises from the spinal cord. | MONDO: A neurofibroma that arises from the spinal cord.
+BMGC_DS09109,BMG_DS034553,"NCI: A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord. | MONDO: A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord."
+BMGC_DS09110,BMG_DS034554,NCI: A sarcoma that arises from the spinal cord. | MONDO: A sarcoma that arises from the spinal cord.
+BMGC_DS09111,BMG_DS034555,NCI: A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells. | MONDO: A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.
+BMGC_DS09112,BMG_DS034557,NCI: Infiltration and expansion of the red pulp of the spleen by hairy cell leukemia. | MONDO: A hairy cell leukemia that involves the spleen.
+BMGC_DS09113,BMG_DS034558,NCI: Infiltration and expansion of the white and/or red pulp and sinusoids of the spleen by leukemic cells. | MONDO: A leukemia (disease) that involves the spleen.
+BMGC_DS09114,BMG_DS034559,NCI: Infiltration and expansion of the white and red pulp of the spleen by prolymphocytic leukemia. | MONDO: A prolymphocytic leukemia that involves the spleen.
+BMGC_DS09115,BMG_DS034560,NCI: A carcinoma that arises from the breast and is not caused by inherited genetic mutations. | MONDO: A carcinoma that arises from the breast and is not caused by inherited genetic mutations.
+BMGC_DS09116,BMG_DS034561,NCI: A papillary renal cell carcinoma that occurs in a patient who does not have a family history of papillary renal cell carcinoma nor is a carrier of an inherited DNA change that would increase the risk of developing this carcinoma.
+BMGC_DS09117,BMG_DS034562,NCI: A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells. | MONDO: A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells.
+BMGC_DS09118,BMG_DS034563,NCI: A squamous cell carcinoma that arises from the penis and cannot be classified according to other morphologic subtypes.
+BMGC_DS09119,BMG_DS034564,"NCI: A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. | MONDO: A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation."
+BMGC_DS09120,BMG_DS034566,NCI: Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by non-seminomatous malignant germ cells. The non-seminomatous malignant germ cells are usually of embryonal carcinoma type.
+BMGC_DS09121,BMG_DS034567,"NCI: Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis. | MONDO: Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis."
+BMGC_DS09122,BMG_DS034568,NCI: A rare lymphoma that arises from the bone or soft tissue of the sternum. | MONDO: A rare lymphoma that arises from the bone or soft tissue of the sternum.
+BMGC_DS09123,BMG_DS034569,"NCI: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone. | MONDO: A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone."
+BMGC_DS09124,BMG_DS034574,NCI: An infiltrating carcinoma of the bladder that has not invaded into the bladder muscularis propria. | MONDO: A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade.
+BMGC_DS09125,BMG_DS034575,NCI: A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor. | MONDO: A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor.
+BMGC_DS09126,BMG_DS034576,NCI: A malignant vascular neoplasm arising from the superior vena cava. | MONDO: A malignant vascular neoplasm arising from the superior vena cava.
+BMGC_DS09127,BMG_DS034577,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS09128,BMG_DS034578,NCI: A meningioma that arises from the suprasellar region. | MONDO: A meningioma that affects the suprasellar region.
+BMGC_DS09129,BMG_DS034580,"NCI: A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. | MONDO: A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region."
+BMGC_DS09130,BMG_DS034581,"NCI: A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus. | MONDO: A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus."
+BMGC_DS09131,BMG_DS034582,"NCI: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis. | MONDO: A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis."
+BMGC_DS09132,BMG_DS034583,NCI: A rare hemangioma arising from synovium lining surfaces. | MONDO: A rare hemangioma arising from synovium lining surfaces.
+BMGC_DS09133,BMG_DS034585,"NCI: A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present. | MONDO: A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present."
+BMGC_DS09134,BMG_DS034586,NCI: A glomus tumor characterized by huge vascular channel formations. | MONDO: A glomus tumor characterized by huge vascular channel formations.
+BMGC_DS09135,BMG_DS034587,"NCI: A benign tumor, composed of mature adipocytes, that arises within the tendon sheath. | MONDO: A benign tumor, composed of mature adipocytes, that arises within the tendon sheath."
+BMGC_DS09136,BMG_DS034588,"NCI: A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. | MONDO: A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor."
+BMGC_DS09137,BMG_DS034589,"NCI: A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. | MONDO: A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile."
+BMGC_DS09138,BMG_DS034590,"NCI: A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03 | MONDO: A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03"
+BMGC_DS09139,BMG_DS034591,"NCI: A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma. | MONDO: A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma."
+BMGC_DS09140,BMG_DS034592,NCI: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis. | MONDO: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis.
+BMGC_DS09141,BMG_DS034593,NCI: A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas. | MONDO: A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.
+BMGC_DS09142,BMG_DS034594,
+BMGC_DS09143,BMG_DS034595,NCI: A meningioma that arises from the meninges of the thoracic region of the spinal cord. | MONDO: A meningioma that arises from the meninges of the thoracic region of the spinal cord.
+BMGC_DS09144,BMG_DS034596,"NCI: A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation. | MONDO: A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation."
+BMGC_DS09145,BMG_DS034598,NCI: A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. | MONDO: A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.
+BMGC_DS09146,BMG_DS034599,NCI: A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter. | MONDO: A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter.
+BMGC_DS09147,BMG_DS034601,NCI: A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli. | MONDO: A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.
+BMGC_DS09148,BMG_DS034602,"NCI: A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course. | MONDO: A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course."
+BMGC_DS09149,BMG_DS034603,NCI: A lymphoma primarily involving the thyroid gland. The vast majority of cases are B-cell non-Hodgkin lymphomas. Hodgkin lymphomas involving the thyroid gland are exceedingly rare. | MONDO: A lymphoma primarily involving the thyroid gland.
+BMGC_DS09150,BMG_DS034605,NCI: A malignant mesenchymal neoplasm primarily involving the thyroid gland. | MONDO: A malignant soft tissue neoplasm primarily involving the thyroid gland.
+BMGC_DS09151,BMG_DS034609,"NCI: A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor. | MONDO: A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor."
+BMGC_DS09152,BMG_DS034610,NCI: A rare malignant soft tissue neoplasm that arises from the trachea. | MONDO: A rare malignant soft tissue neoplasm that arises from the trachea.
+BMGC_DS09153,BMG_DS034611,NCI: A meningioma that arises from the tuberculum sellae. | MONDO: A meningioma that affects the tuberculum sellae.
+BMGC_DS09154,BMG_DS034615,NCI: A meningioma that affects the upper clivus. | MONDO: A meningioma that affects the upper clivus.
+BMGC_DS09155,BMG_DS034616,NCI: Adenocarcinoma that affects the ureter. | MONDO: A carcinoma that arises from glandular epithelial cells of the ureter
+BMGC_DS09156,BMG_DS034617,"NCI: An endophytic urothelial neoplasm arising from the ureter. It shares several morphologic features with urothelial papilloma. | MONDO: A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria."
+BMGC_DS09157,BMG_DS034618,"NCI: A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS09158,BMG_DS034619,NCI: A lymphoma involving the ureter. | MONDO: A lymphoma that involves the ureter.
+BMGC_DS09159,BMG_DS034620,"NCI: A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter. | MONDO: A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter."
+BMGC_DS09160,BMG_DS034621,NCI: A rare small cell neuroendocrine carcinoma that arises from the ureter. | MONDO: A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor.
+BMGC_DS09161,BMG_DS034622,NCI: A rare squamous cell carcinoma that arises from the ureter. | MONDO: A rare squamous cell carcinoma that arises from the ureter.
+BMGC_DS09162,BMG_DS034623,NCI: A benign polypoid lesion of mesodermal origin that arises from the urethra. | MONDO: A benign polypoid lesion of mesodermal origin that arises from the urethra.
+BMGC_DS09163,BMG_DS034624,NCI: An adenocarcinoma that arises from the male or female urethra. | MONDO: A carcinoma that arises from glandular epithelial cells of the urethra
+BMGC_DS09164,BMG_DS034625,NCI: A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells. | MONDO: A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells.
+BMGC_DS09165,BMG_DS034626,NCI: An endophytic urothelial neoplasm arising from the urethra. It shares several morphologic features with urothelial papilloma. | MONDO: A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue.
+BMGC_DS09166,BMG_DS034627,"NCI: A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. | MONDO: A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
+BMGC_DS09167,BMG_DS034628,"NCI: A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. | MONDO: A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi."
+BMGC_DS09168,BMG_DS034629,"NCI: A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra. | MONDO: A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra."
+BMGC_DS09169,BMG_DS034637,"NCI: A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue. | MONDO: A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue."
+BMGC_DS09170,BMG_DS034638,NCI: An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. | MONDO: An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.
+BMGC_DS09171,BMG_DS034639,NCI: A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. | MONDO: A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma.
+BMGC_DS09172,BMG_DS034640,NCI: A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells. | MONDO: A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells.
+BMGC_DS09173,BMG_DS034641,NCI: A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection. | MONDO: A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection.
+BMGC_DS09174,BMG_DS034643,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS09175,BMG_DS034645,NCI: A rare yolk sac tumor that arises from the vagina. | MONDO: A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.
+BMGC_DS09176,BMG_DS034647,"NCI: A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present. | MONDO: A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present."
+BMGC_DS09177,BMG_DS034648,NCI: A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells. | MONDO: A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells.
+BMGC_DS09178,BMG_DS034649,NCI: An astrocytoma that affects the visual pathway. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. | MONDO: An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.
+BMGC_DS09179,BMG_DS034651,"HPO: An adenocarcinoma arising in the vulva. [https://orcid.org/0000-0002-0736-9199, PMID:23761517] | MONDO: An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma."
+BMGC_DS09180,BMG_DS034652,"ORPHANET: A rare vulvar carcinoma characterized by a slowly growing ulcer or nodule which is histologically composed of demarcated nests of palisaded basal cells originating at the epidermal-dermal junction. Occasionally, the tumor may be extensively pigmented. Patients most commonly present with pruritus. The lesion is usually treated by local excision, although groin metastases have been reported. | MONDO: A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis."
+BMGC_DS09181,BMG_DS034653,NCI: A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia. | MONDO: A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia.
+BMGC_DS09182,BMG_DS034654,"NCI: A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. | MONDO: A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation."
+BMGC_DS09183,BMG_DS034655,NCI: A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia. | MONDO: A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia.
+BMGC_DS09184,BMG_DS034656,"NCI: A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border. | MONDO: A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border."
+BMGC_DS09185,BMG_DS034659,"NCI: A localized or multifocal mesothelial neoplasm arising from the peritoneum and less often the pleura and paratesticular region. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma. | MONDO: A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma."
+BMGC_DS09186,BMG_DS034660,"NCI: An adenocarcinoma that arises from the thyroid gland and shows extensive evidence of follicular cell differentiation. According to the nuclear features of the malignant follicular cells, it is classified either as papillary or follicular carcinoma. | MONDO: Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass."
+BMGC_DS09187,BMG_DS034661,NCI: Cholecystitis that is characterized by nodules containing lipid. | MONDO: Cholecystitis that is characterized by nodules containing lipid.
+BMGC_DS09188,BMG_DS034663,"NCI: A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO) | MONDO: A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)"
+BMGC_DS09189,BMG_DS034665,
+BMGC_DS09190,BMG_DS034670,
+BMGC_DS09191,BMG_DS034671,"MONDO: Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions."
+BMGC_DS09192,BMG_DS034672,"HPO: A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. [https://orcid.org/0000-0002-0736-9199, PMID:15661706] | MONDO: Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures."
+BMGC_DS09193,BMG_DS034673,"NCI: A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. | MONDO: A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood."
+BMGC_DS09194,BMG_DS034674,
+BMGC_DS09195,BMG_DS034676,"SNOMEDCT_US: Describes a rare type of pineal parenchymal tumour (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. | MONDO: A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)"
+BMGC_DS09196,BMG_DS034679,"NCI: A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. | MONDO: A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum."
+BMGC_DS09197,BMG_DS034680,
+BMGC_DS09198,BMG_DS034681,
+BMGC_DS09199,BMG_DS034682,"NCI: A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. | MONDO: A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss."
+BMGC_DS09200,BMG_DS034683,NCI: A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome. | MONDO: A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome.
+BMGC_DS09201,BMG_DS034686,
+BMGC_DS09202,BMG_DS034687,NCI: A neoplasm composed of at least two distinct cellular populations. | MONDO: A neoplasm composed of at least two distinct cellular populations.
+BMGC_DS09203,BMG_DS034689,"MONDO: A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas."
+BMGC_DS09204,BMG_DS034691,"NCI: A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells. | MONDO: A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells."
+BMGC_DS09205,BMG_DS034692,NCI: A benign or malignant neoplasm that occurs during childhood. | MONDO: A benign or malignant neoplasm arising during childhood.
+BMGC_DS09206,BMG_DS034693,MONDO: A cystic teratoma that occurs in an adult.
+BMGC_DS09207,BMG_DS034695,
+BMGC_DS09208,BMG_DS034696,"NCI: A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type mature tissues, without evidence of fetal-type immature tissues (grade 0 teratoma). | MONDO: A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues."
+BMGC_DS09209,BMG_DS034697,"NCI: A rare, serous papillary adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous papillary adenocarcinoma that arises from the ovary."
+BMGC_DS09210,BMG_DS034699,"NCI: A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. | MONDO: A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis."
+BMGC_DS09211,BMG_DS034700,NCI: A carcinoma occurring in the scrotum. | MONDO: A carcinoma that arises from epithelial cells of the scrotum.
+BMGC_DS09212,BMG_DS034701,"NCI: A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.) | MONDO: A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)"
+BMGC_DS09213,BMG_DS034702,MONDO: A embryonal carcinoma of the central nervous system that occurs in an adult.
+BMGC_DS09214,BMG_DS034703,MONDO: A central nervous system germinoma that occurs in an adult.
+BMGC_DS09215,BMG_DS034704,NCI: A choriocarcinoma affecting the central nervous system and occurring in adulthood. | MONDO: A choriocarcinoma of the central nervous system that occurs in an adult.
+BMGC_DS09216,BMG_DS034705,NCI: A mature or immature teratoma affecting the central nervous system and occurring in adults. | MONDO: A mature or immature teratoma affecting the central nervous system and occurring in adults.
+BMGC_DS09217,BMG_DS034706,"SNOMEDCT_US: A rare slow growing neuronal tumour seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. | MONDO: A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO)"
+BMGC_DS09218,BMG_DS034707,"NCI: A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma. | MONDO: A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma."
+BMGC_DS09219,BMG_DS034708,"NCI: A perineurioma not associated with a nerve, arising from the soft tissues."
+BMGC_DS09220,BMG_DS034709,"SNOMEDCT_US: A rare tumour of cranial and spinal nerves arising from peripheral nerve sheath and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localised, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare. | MONDO: A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells."
+BMGC_DS09221,BMG_DS034710,"NCI: A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck. | MONDO: A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck."
+BMGC_DS09222,BMG_DS034711,NCI: An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells. | MONDO: An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells.
+BMGC_DS09223,BMG_DS034713,NCI: An adenocarcinoma arising from the intrahepatic or extrahepatic bile ducts. | MONDO: A carcinoma that arises from glandular epithelial cells of the bile duct
+BMGC_DS09224,BMG_DS034714,"NCI: Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. | MONDO: Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome."
+BMGC_DS09225,BMG_DS034715,"ORPHANET: Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes. | MONDO: A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation."
+BMGC_DS09226,BMG_DS034716,NCI: A rare morphologic variant of atypical lipomatous tumor/well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant chronic inflammatory infiltrate. | MONDO: A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.
+BMGC_DS09227,BMG_DS034717,NCI: A germ cell tumor arising from brain during childhood. | MONDO: A germ cell tumor arising from brain during childhood.
+BMGC_DS09228,BMG_DS034718,NCI: A choriocarcinoma that arises from the central nervous system and occurs during childhood. | MONDO: A choriocarcinoma that arises from the central nervous system and occurs during childhood.
+BMGC_DS09229,BMG_DS034719,NCI: An embryonal carcinoma that arises from the central nervous system and occurs during childhood. | MONDO: An embryonal carcinoma that arises from the central nervous system and occurs during childhood.
+BMGC_DS09230,BMG_DS034721,NCI: A yolk sac tumor that arises from the central nervous system and occurs during childhood. | MONDO: A yolk sac tumor that arises from the central nervous system and occurs during childhood.
+BMGC_DS09231,BMG_DS034723,NCI: A malignant epithelial neoplasm arising in the nasal cavity. | MONDO: A carcinoma that arises from epithelial cells of the nasal cavity
+BMGC_DS09232,BMG_DS034724,NCI: An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma. | MONDO: An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.
+BMGC_DS09233,BMG_DS034725,NCI: A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. | MONDO: A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.
+BMGC_DS09234,BMG_DS034726,NCI: A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma. | MONDO: A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.
+BMGC_DS09235,BMG_DS034727,NCI: A benign or borderline neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells. | MONDO: A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.
+BMGC_DS09236,BMG_DS034728,NCI: Malignant testicular germ cell tumor that is resistant to treatment. | MONDO: Malignant testicular germ cell tumor that is resistant to treatment.
+BMGC_DS09237,BMG_DS034731,"ORPHANET: Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis. | MONDO: A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath."
+BMGC_DS09238,BMG_DS034732,NCI: A gliosarcoma of the brain stem that occurs during adulthood.
+BMGC_DS09239,BMG_DS034733,NCI: A mixed glioma of the brain stem that occurs during adulthood.
+BMGC_DS09240,BMG_DS034735,"MONDO: A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05)"
+BMGC_DS09241,BMG_DS034737,
+BMGC_DS09242,BMG_DS034738,"NCI: A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. | MONDO: A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms."
+BMGC_DS09243,BMG_DS034739,NCI: A primary or metastatic malignant neoplasm that affects the sternum. | MONDO: A malignant neoplasm involving the sternum
+BMGC_DS09244,BMG_DS034740,NCI: A rare malignant neoplasm that arises from the sebaceous glands. | MONDO: A cancer that involves the sebaceous gland.
+BMGC_DS09245,BMG_DS034741,NCI: An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO) | MONDO: An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)
+BMGC_DS09246,BMG_DS034742,NCI: A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen. | MONDO: A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.
+BMGC_DS09247,BMG_DS034743,NCI: A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid. | MONDO: A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid.
+BMGC_DS09248,BMG_DS034744,NCI: A sarcoma arising from the leptomeninges. | MONDO: A sarcoma arising from the leptomeninges.
+BMGC_DS09249,BMG_DS034748,"MONDO: An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. | MeSH: A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA."
+BMGC_DS09250,BMG_DS034749,NCI: Testicular failure due to a condition directly affecting the testes.
+BMGC_DS09251,BMG_DS034750,"MeSH: A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement."
+BMGC_DS09252,BMG_DS034753,
+BMGC_DS09253,BMG_DS034756,"NCI: A category of juvenile idiopathic arthritis defined by the presence of arthritis and high fevers, and accompanied by at least 2 of the following systemic features: lymphadenopathy, organomegaly, rash, or serositis. Macrophage activation syndrome is a well known complication."
+BMGC_DS09254,BMG_DS034759,"HPO: Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS09255,BMG_DS034760,"NCI: Partial or complete loss of the ability to detect or understand sounds resulting from damage to the outer, middle, or inner ear structures. Causes include exposure to loud noise, ear infections, injuries to the ear, genetic, and congenital disorders. | MONDO: A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central."
+BMGC_DS09256,BMG_DS034763,NCI: A rare benign neoplasm that arises from the bladder and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium. | MONDO: A benign neoplasm of the bladder that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.
+BMGC_DS09257,BMG_DS034773,
+BMGC_DS09258,BMG_DS034789,"ORPHANET: Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. | MONDO: Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated."
+BMGC_DS09259,BMG_DS034790,
+BMGC_DS09260,BMG_DS034795,"HPO: A type of breast adenoma composed of benign apocrine cells. [PMID:18491794] | MONDO: A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia."
+BMGC_DS09261,BMG_DS034799,NCI: A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves.
+BMGC_DS09262,BMG_DS034802,"HPO: Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS09263,BMG_DS034819,
+BMGC_DS09264,BMG_DS034840,ORPHANET: Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. | MONDO: Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
+BMGC_DS09265,BMG_DS034847,"HPO: Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. [https://orcid.org/0000-0002-0736-9199] | MONDO: Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left."
+BMGC_DS09266,BMG_DS034872,
+BMGC_DS09267,BMG_DS034874,"HPO: Unilateral overgrowth of facial tissues, including muscles, bones and skin. [https://orcid.org/0000-0002-0736-9199] | MONDO: Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties."
+BMGC_DS09268,BMG_DS034912,ORPHANET: A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.
+BMGC_DS09269,BMG_DS034941,SNOMEDCT_US: Incisor that has marked lateral borders occurring lingually.
+BMGC_DS09270,BMG_DS034952,"MeSH: Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse."
+BMGC_DS09271,BMG_DS034954,NCI: A benign or malignant neoplasm that affects the pineal region. | MONDO: A neoplasm (disease) that involves the pineal body.
+BMGC_DS09272,BMG_DS034956,"NCI: A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma. | MONDO: A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma."
+BMGC_DS09273,BMG_DS034958,"MONDO: A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC."
+BMGC_DS09274,BMG_DS034959,"HPO: A squamous cell carcinoma that originates in the skin of the anal margin. [https://orcid.org/0000-0002-0736-9199, PMID:22379406] | MONDO: A squamous cell carcinoma arising from the perianal skin."
+BMGC_DS09275,BMG_DS034960,
+BMGC_DS09276,BMG_DS034961,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.
+BMGC_DS09277,BMG_DS034962,"NCI: An autosomal dominant condition caused by mutation(s) in the THAP1 gene, encoding THAP domain-containing protein 1. It is characterized by dystonic craniofacial movements, dysarthria, and dysphagia. Limb involvement is common. | MONDO: Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases."
+BMGC_DS09278,BMG_DS034964,
+BMGC_DS09279,BMG_DS034965,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.
+BMGC_DS09280,BMG_DS034966,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene.
+BMGC_DS09281,BMG_DS034968,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene.
+BMGC_DS09282,BMG_DS034975,
+BMGC_DS09283,BMG_DS034977,
+BMGC_DS09284,BMG_DS034979,"MeSH: A degenerative joint disease involving the SPINE. It is characterized by progressive deterioration of the spinal articular cartilage (CARTILAGE, ARTICULAR), usually with hardening of the subchondral bone and outgrowth of bone spurs (OSTEOPHYTE)."
+BMGC_DS09285,BMG_DS034983,"MONDO: Non-neoplastic overgrowth of bone. | MeSH: Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component."
+BMGC_DS09286,BMG_DS034987,
+BMGC_DS09287,BMG_DS034988,MONDO: Autosomal dominant form of chondrodysplasia punctata.
+BMGC_DS09288,BMG_DS034992,
+BMGC_DS09289,BMG_DS034993,"MONDO: A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible. | MeSH: A particular type of FEMUR HEAD NECROSIS occurring in children, mainly male, with a course of four years or so."
+BMGC_DS09290,BMG_DS034995,
+BMGC_DS09291,BMG_DS034997,
+BMGC_DS09292,BMG_DS035009,"MONDO: A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state."
+BMGC_DS09293,BMG_DS035035,"MeSH: An acute infectious disease caused by COXIELLA BURNETII. It is characterized by a sudden onset of FEVER; HEADACHE; malaise; and weakness. In humans, it is commonly contracted by inhalation of infected dusts derived from infected domestic animals (ANIMALS, DOMESTIC)."
+BMGC_DS09294,BMG_DS035049,
+BMGC_DS09295,BMG_DS035115,"SNOMEDCT_US: Oligoarticular juvenile idiopathic arthritis (JIA) affects between one and up to a maximum of four joints. For onset extended oligoarthritis there is involvement of additional joints after the first six months of the disease, resulting in more than four joints being ultimately affected."
+BMGC_DS09296,BMG_DS035128,"MONDO: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. | MeSH: A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein."
+BMGC_DS09297,BMG_DS035129,"MeSH: A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146) | MeSH: A subvariety of CADASIL characterized by the high frequency of MIGRAINE. The acronym stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts, Leukoencephalopathy, and Migraine."
+BMGC_DS09298,BMG_DS035130,"MeSH: Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter."
+BMGC_DS09299,BMG_DS035131,"HPO: Reduced motility of the gallbladder with reduced emptying fraction. [https://orcid.org/0000-0002-0736-9199, PMID:12095476, PMID:17761125] | MeSH: A motility disorder characterized by biliary COLIC, absence of GALLSTONES, and an abnormal GALLBLADDER ejection fraction. It is caused by gallbladder dyskinesia and/or SPHINCTER OF ODDI DYSFUNCTION."
+BMGC_DS09300,BMG_DS035132,"MeSH: INFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERITONEAL CAVITY via hematogenous or lymphatic spread and without intra-abdominal source. Secondary peritonitis arises from the ABDOMINAL CAVITY itself through RUPTURE or ABSCESS of intra-abdominal organs."
+BMGC_DS09301,BMG_DS035133,"MeSH: INFLAMMATION of the PERITONEUM lining the ABDOMINAL CAVITY as the result of infectious, autoimmune, or chemical processes. Primary peritonitis is due to infection of the PERITONEAL CAVITY via hematogenous or lymphatic spread and without intra-abdominal source. Secondary peritonitis arises from the ABDOMINAL CAVITY itself through RUPTURE or ABSCESS of intra-abdominal organs."
+BMGC_DS09302,BMG_DS035134,MeSH: Breast diseases which are hormone-dependent or responsive to endocrine signals. | MeSH: Pathological processes of the BREAST.
+BMGC_DS09303,BMG_DS035135,"NCI: Gynecomastia that occurs during puberty and is not due to exogenous substances or disease processes. | MeSH: Enlargement of the BREAST in the males, caused by an excess of ESTROGENS. Physiological gynecomastia is normally observed in NEWBORNS; ADOLESCENT; and AGING males."
+BMGC_DS09304,BMG_DS035136,"NCI: Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. | MONDO: Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. | MeSH: Enlargement of the BREAST in the males, caused by an excess of ESTROGENS. Physiological gynecomastia is normally observed in NEWBORNS; ADOLESCENT; and AGING males."
+BMGC_DS09305,BMG_DS035139,"ORPHANET: A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. | MONDO: Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. | MeSH: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION."
+BMGC_DS09306,BMG_DS035140,"ORPHANET: A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss. | MeSH: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION."
+BMGC_DS09307,BMG_DS035141,"MONDO: A rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. | MeSH: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION. | MeSH: Autosomal dominant syndrome of renal electrolyte transport dysfunctions. The clinical features include salt-sensitive hypertension, renal HYPERKALEMIA without sodium wasting, normal glomerular filtration rate and metabolic acidosis (hyperchloremic acidemia and HYPERCALCIURIA). Wnk1 and Wnk4 mutations are responsible for the disorder."
+BMGC_DS09308,BMG_DS035142,"MeSH: A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7)."
+BMGC_DS09309,BMG_DS035143,"MeSH: A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7)."
+BMGC_DS09310,BMG_DS035144,"MeSH: A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7)."
+BMGC_DS09311,BMG_DS035145,"MeSH: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations."
+BMGC_DS09312,BMG_DS035146,"ORPHANET: Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. | MeSH: A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive."
+BMGC_DS09313,BMG_DS035153,"SNOMEDCT_US: Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality with manifestations of jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. | MONDO: Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy."
+BMGC_DS09314,BMG_DS035160,
+BMGC_DS09315,BMG_DS035164,
+BMGC_DS09316,BMG_DS035165,"MONDO: A tooth erosion, non-bacterial that involves the dentine."
+BMGC_DS09317,BMG_DS035166,"MONDO: A tooth erosion, non-bacterial that involves the dental pulp."
+BMGC_DS09318,BMG_DS035168,
+BMGC_DS09319,BMG_DS035179,"ORPHANET: A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and sometimes sleep paralysis, and hypnagogic/hypnopompic hallucinations. | MONDO: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior."
+BMGC_DS09320,BMG_DS035181,
+BMGC_DS09321,BMG_DS035182,
+BMGC_DS09322,BMG_DS035183,
+BMGC_DS09323,BMG_DS035187,
+BMGC_DS09324,BMG_DS035190,
+BMGC_DS09325,BMG_DS035200,
+BMGC_DS09326,BMG_DS035202,MeSH: Stones in the URETER that are formed in the KIDNEY. They are rarely more than 5 mm in diameter for larger renal stones cannot enter ureters. They are often lodged at the ureteral narrowing and can cause excruciating renal colic.
+BMGC_DS09327,BMG_DS035204,
+BMGC_DS09328,BMG_DS035207,
+BMGC_DS09329,BMG_DS035212,"MONDO: A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. | MeSH: Tumors or cancer of the human BREAST."
+BMGC_DS09330,BMG_DS035218,"MeSH: Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE. | MeSH: Familial precocious puberty in boys usually presents by age 4 with rapid VIRILIZATION and is also characterized by gonadotropin-independent testosterone secretion, low secretion of LUTEINIZING HORMONE, and advanced SPERMATOGENESIS in the testis. Mutations in the LHCGR gene have been identified. OMIM: 176410"
+BMGC_DS09331,BMG_DS035227,HPO: Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS09332,BMG_DS035228,"SNOMEDCT_US: A severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. The mode of transmission follows a Y-linked pattern, with incomplete penetrance, but as deletions are often associated with infertility, they generally occur de novo. Molecular diagnosis is made by PCR amplification of STS type sequences (sequence-tagged sites) from the AZFa, b, and c regions. All chromosome Y deletions do not necessarily lead to infertility: firstly, some deletions (especially some partial deletions) do not result in spermatogenesis defects; secondly, among men with severe oligospermia, some can father children without infertility treatment. Finally, when mature spermatozoa are found in the sperm or in the testicles, the infertility problem can be solved with medically assisted procreation techniques. However, there is a risk of transmitting the microdeletion to every male infant. | MONDO: Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility."
+BMGC_DS09333,BMG_DS035229,MONDO: A mesenchymal tumor composed of fibroblastic and histiocytic cells.
+BMGC_DS09334,BMG_DS035230,"MONDO: A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic."
+BMGC_DS09335,BMG_DS035232,
+BMGC_DS09336,BMG_DS035233,"MONDO: Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia. | MeSH: Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia."
+BMGC_DS09337,BMG_DS035236,HPO: Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. [https://orcid.org/0000-0002-0736-9199] | MONDO: Any nerve disorder caused by the entrapment and compression of a nerve. | MeSH: Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
+BMGC_DS09338,BMG_DS035237,"MeSH: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy."
+BMGC_DS09339,BMG_DS035240,"MONDO: Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. | MeSH: Congenital craniostenosis with syndactyly."
+BMGC_DS09340,BMG_DS035241,"NCI: An X-linked inherited syndrome caused by mutations in the OFD1 gene mapped to chromosome Xp22.2. It is characterized by malformations of the face, oral cavity, and fingers. | MONDO: A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. | MeSH: Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait."
+BMGC_DS09341,BMG_DS035242,"NCI: A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. | MONDO: A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. | MeSH: A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)"
+BMGC_DS09342,BMG_DS035243,MONDO: Drug dependence - replaced the term \
+BMGC_DS09343,BMG_DS035244,"MeSH: A pouch or sac developed from a tubular or saccular organ, such as the GASTROINTESTINAL TRACT."
+BMGC_DS09344,BMG_DS035245,"ORPHANET: A rare disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. | MONDO: Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. | MeSH: A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6)"
+BMGC_DS09345,BMG_DS035246,"SNOMEDCT_US: Describes a group of rare familial central nervous system disorders characterised by amyloid deposition in the cerebral blood vessels leading to haemorrhagic and non-haemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. Clinical features depend on the disease type. Most forms of HCHWA (Dutch, Arctic, Piedmont, Iowa, Flemish and Italian) are due to a point-mutation in the APP gene on chromosome 21q21.2, which encodes the beta-amyloid precursor protein. This mutation causes increased accumulation of amyloid-beta protein in the walls of cerebral arteries and capillaries. Only one form of HCHWA, Icelandic type, is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C. | MONDO: Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. | MeSH: A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES."
+BMGC_DS09346,BMG_DS035247,"MONDO: A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland. | MeSH: A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells."
+BMGC_DS09347,BMG_DS035250,"NCI: A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. | MONDO: A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors."
+BMGC_DS09348,BMG_DS035251,
+BMGC_DS09349,BMG_DS035252,"NCI: A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. Histologic variants include clear cell, serous, and mucinous adenocarcinofibroma. | MONDO: A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma."
+BMGC_DS09350,BMG_DS035253,NCI: A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain. | MONDO: A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain.
+BMGC_DS09351,BMG_DS035255,"NCI: A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases. | MONDO: A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases."
+BMGC_DS09352,BMG_DS035256,"NCI: An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation. | MONDO: An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation."
+BMGC_DS09353,BMG_DS035257,MONDO: A neurofibroma characterized by the presence of cellular pleomorphism.
+BMGC_DS09354,BMG_DS035258,NCI: A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns. | MONDO: A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns.
+BMGC_DS09355,BMG_DS035259,"NCI: A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells. | MONDO: A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells."
+BMGC_DS09356,BMG_DS035260,"NCI: A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture. | MONDO: A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture."
+BMGC_DS09357,BMG_DS035261,NCI: A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells. | MONDO: A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells.
+BMGC_DS09358,BMG_DS035262,NCI: A rare small cell neuroendocrine carcinoma that arises from the Bartholin gland. | MONDO: A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity.
+BMGC_DS09359,BMG_DS035263,NCI: A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells. | MONDO: A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells.
+BMGC_DS09360,BMG_DS035264,NCI: A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells. | MONDO: A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells.
+BMGC_DS09361,BMG_DS035265,NCI: An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm. | MONDO: An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm.
+BMGC_DS09362,BMG_DS035267,NCI: A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended. | MONDO: A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended.
+BMGC_DS09363,BMG_DS035269,NCI: A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements. | MONDO: A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.
+BMGC_DS09364,BMG_DS035270,"NCI: A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells. | MONDO: A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells."
+BMGC_DS09365,BMG_DS035271,NCI: A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern. | MONDO: A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern.
+BMGC_DS09366,BMG_DS035272,NCI: A rare adenocarcinoma that arises in the bladder. It is characterized by intestinal type glands and resembles colonic adenocarcinoma.
+BMGC_DS09367,BMG_DS035273,NCI: A rare variant of bladder adenocarcinoma. It is characterized by the presence of a mixture of polygonal hepatoid cells and glandular adenocarcinoma cells. | MONDO: A hepatoid adenocarcinoma that involves the urinary bladder.
+BMGC_DS09368,BMG_DS035275,"NCI: A variant of bladder adenocarcinoma that histologically consists of more than one growth pattern such as enteric, mucinous or signet ring types."
+BMGC_DS09369,BMG_DS035276,NCI: A rare primary adenocarcinoma of the bladder. Histologically it is characterized by malignant cells floating in pools of mucin.
+BMGC_DS09370,BMG_DS035277,NCI: A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern. | MONDO: A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.
+BMGC_DS09371,BMG_DS035278,NCI: A neoplasm with papillary architectural pattern arising from the bladder urothelial cells. | MONDO: A papillary epithelial neoplasm that involves the urinary bladder urothelium.
+BMGC_DS09372,BMG_DS035280,NCI: A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern. | MONDO: A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern.
+BMGC_DS09373,BMG_DS035281,
+BMGC_DS09374,BMG_DS035282,NCI: A rare variant of bladder urachal carcinoma with squamous cell features.
+BMGC_DS09375,BMG_DS035283,NCI: A urothelial carcinoma of the urinary bladder that arises from the urachal epithelium. | MONDO: A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium.
+BMGC_DS09376,BMG_DS035284,"NCI: A rare variant of well differentiated squamous cell carcinoma, usually associated with bladder schistosomiasis. | MONDO: A verrucous carcinoma that involves the urinary bladder."
+BMGC_DS09377,BMG_DS035285,NCI: A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. | MONDO: A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.
+BMGC_DS09378,BMG_DS035286,"NCI: An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present. | MONDO: An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present."
+BMGC_DS09379,BMG_DS035287,NCI: A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces. | MONDO: A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces.
+BMGC_DS09380,BMG_DS035288,"NCI: An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified. | MONDO: An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified."
+BMGC_DS09381,BMG_DS035290,"NCI: A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor. | MONDO: A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor."
+BMGC_DS09382,BMG_DS035292,"NCI: A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm. | MONDO: A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm."
+BMGC_DS09383,BMG_DS035293,NCI: A hemangiopericytoma arising from the breast. | MONDO: A hemangiopericytoma arising from the breast.
+BMGC_DS09384,BMG_DS035294,NCI: A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity. | MONDO: A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity.
+BMGC_DS09385,BMG_DS035296,"NCI: An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified. | MONDO: An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified."
+BMGC_DS09386,BMG_DS035297,"NCI: A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma. | MONDO: A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma."
+BMGC_DS09387,BMG_DS035299,NCI: A malignant neoplasm that affects the bulbomembranous part of the urethra.
+BMGC_DS09388,BMG_DS035300,SNOMEDCT_US: Differentiating neuroblastoma grade includes greater than 5% differentiated ganglion cells and an active neuritic process from the neoplastic cells. | MONDO: A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.
+BMGC_DS09389,BMG_DS035303,NCI: Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma. | MONDO: Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma.
+BMGC_DS09390,BMG_DS035304,MONDO: Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.
+BMGC_DS09391,BMG_DS035306,NCI: An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged. | MONDO: An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.
+BMGC_DS09392,BMG_DS035307,NCI: Invasive bladder urothelial carcinoma with lymphoepithelioma-like features.
+BMGC_DS09393,BMG_DS035308,NCI: An invasive urothelial carcinoma of the bladder characterized by the presence of clear (glycogen-rich) cells. | MONDO: An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.
+BMGC_DS09394,BMG_DS035309,NCI: Invasive bladder urothelial carcinoma characterized by the presence of lipid laden tumor cells.
+BMGC_DS09395,BMG_DS035310,
+BMGC_DS09396,BMG_DS035311,NCI: Invasive bladder urothelial carcinoma characterized by microcysts formation.
+BMGC_DS09397,BMG_DS035312,NCI: Invasive bladder urothelial carcinoma characterized by a nested growth pattern.
+BMGC_DS09398,BMG_DS035313,NCI: Invasive bladder urothelial carcinoma characterized by the presence of malignant cells with plasmacytoid features.
+BMGC_DS09399,BMG_DS035314,NCI: An invasive urothelial carcinoma of the bladder that exhibits spindle cell sarcomatoid features. | MONDO: An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.
+BMGC_DS09400,BMG_DS035315,NCI: Invasive urothelial carcinoma that affects the renal pelvis and ureter.
+BMGC_DS09401,BMG_DS035317,HPO: A tumor (abnormal growth of tissue) of the inner ear. [https://orcid.org/0000-0002-0736-9199] | MONDO: A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.
+BMGC_DS09402,BMG_DS035318,NCI: A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts. | MONDO: A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts.
+BMGC_DS09403,BMG_DS035319,"NCI: A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. | MONDO: A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma."
+BMGC_DS09404,BMG_DS035321,"NCI: A rare primary neoplasm of the uterine corpus characterized by the presence of endometrial stromal and smooth muscle components. | MONDO: A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma."
+BMGC_DS09405,BMG_DS035322,"NCI: An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous. | MONDO: An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous."
+BMGC_DS09406,BMG_DS035323,"NCI: A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma). | MONDO: A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma)."
+BMGC_DS09407,BMG_DS035324,
+BMGC_DS09408,BMG_DS035325,NCI: An intrahepatic cholangiocarcinoma that produces abundant mucin. | MONDO: An intrahepatic cholangiocarcinoma that produces abundant mucin.
+BMGC_DS09409,BMG_DS035326,NCI: A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain.
+BMGC_DS09410,BMG_DS035327,"NCI: A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent. | MONDO: A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent."
+BMGC_DS09411,BMG_DS035329,NCI: A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts. | MONDO: A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts.
+BMGC_DS09412,BMG_DS035331,"MONDO: A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos."
+BMGC_DS09413,BMG_DS035332,NCI: A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies. | MONDO: A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.
+BMGC_DS09414,BMG_DS035333,"NCI: Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia. | MONDO: Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia."
+BMGC_DS09415,BMG_DS035334,NCI: A glioblastoma that arises de novo. It is more commonly seen in older patients. Mutations in IDH1 or IDH2 genes are not present.
+BMGC_DS09416,BMG_DS035335,"HPO: A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. [https://orcid.org/0000-0002-0736-9199] | MONDO: A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement."
+BMGC_DS09417,BMG_DS035336,"NCI: A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary. | MONDO: A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity."
+BMGC_DS09418,BMG_DS035339,NCI: An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. | MONDO: An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra.
+BMGC_DS09419,BMG_DS035340,NCI: A primary or metastatic malignant neoplasm that affects the prostatic urethra. | MONDO: A male urethral cancer that involves the prostatic urethra.
+BMGC_DS09420,BMG_DS035341,"NCI: A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and choriocarcinoma. | MONDO: A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor."
+BMGC_DS09421,BMG_DS035342,NCI: A rare benign neoplasm that arises from the renal pelvis and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium. | MONDO: A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma.
+BMGC_DS09422,BMG_DS035343,NCI: An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign. | MONDO: An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign.
+BMGC_DS09423,BMG_DS035344,NCI: An exceptionally rare cystadenofibroma that arises from the rete ovarii. | MONDO: An exceptionally rare cystadenofibroma that arises from the rete ovarii.
+BMGC_DS09424,BMG_DS035345,NCI: An exceptionally rare cystadenoma that arises from the rete ovarii. | MONDO: An exceptionally rare cystadenoma that arises from the rete ovarii.
+BMGC_DS09425,BMG_DS035346,"NCI: A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma. | MONDO: A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma."
+BMGC_DS09426,BMG_DS035348,NCI: A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma. | MONDO: A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma.
+BMGC_DS09427,BMG_DS035350,NCI: An adenocarcinoma of the colon that has invaded into the submucosa. | MONDO: An adenocarcinoma of the colon that has invaded into the submucosa.
+BMGC_DS09428,BMG_DS035351,NCI: Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast. | MONDO: Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast.
+BMGC_DS09429,BMG_DS035352,"NCI: A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma. | MONDO: A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma."
+BMGC_DS09430,BMG_DS035353,"NCI: A very rare, usually benign neoplasm that arises from the paratesticular structures. It is characterized by the presence of solid and cystic nests of neoplastic urothelial-type cells in a fibrotic stroma. | MONDO: An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma."
+BMGC_DS09431,BMG_DS035356,"NCI: A rare, low-grade malignant sex cord-stromal tumor that arises from the testis in adults. It is composed of granulosa cells in an often fibrothecomatous stroma. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Gynecomastia is present in approximately a quarter of the patients. Metastases have been reported in a minority of patients. | MONDO: A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases."
+BMGC_DS09432,BMG_DS035357,"HPO: Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia. [NCIT:C4207, PMID:17652550] | MONDO: A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells."
+BMGC_DS09433,BMG_DS035358,"NCI: A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor. | MONDO: A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor."
+BMGC_DS09434,BMG_DS035359,"NCI: A malignant sex cord-gonadal stromal tumor that arises from the testis. It is characterized by cellular pleomorphism, anaplastic features, increased mitotic activity, and vascular invasion."
+BMGC_DS09435,BMG_DS035360,NCI: A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent. | MONDO: A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.
+BMGC_DS09436,BMG_DS035361,NCI: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes. | MONDO: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.
+BMGC_DS09437,BMG_DS035362,NCI: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes. | MONDO: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.
+BMGC_DS09438,BMG_DS035363,NCI: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes. | MONDO: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.
+BMGC_DS09439,BMG_DS035365,NCI: A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas. | MONDO: A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas.
+BMGC_DS09440,BMG_DS035366,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.
+BMGC_DS09441,BMG_DS035367,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.
+BMGC_DS09442,BMG_DS035368,"NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures."
+BMGC_DS09443,BMG_DS035369,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.
+BMGC_DS09444,BMG_DS035370,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.
+BMGC_DS09445,BMG_DS035371,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.
+BMGC_DS09446,BMG_DS035372,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.
+BMGC_DS09447,BMG_DS035373,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.
+BMGC_DS09448,BMG_DS035374,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.
+BMGC_DS09449,BMG_DS035375,NCI: A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli. | MONDO: A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.
+BMGC_DS09450,BMG_DS035376,
+BMGC_DS09451,BMG_DS035377,NCI: A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation. | MONDO: A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation.
+BMGC_DS09452,BMG_DS035378,NCI: A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults. | MONDO: A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults.
+BMGC_DS09453,BMG_DS035379,NCI: An adenocarcinoma that arises from the Cowper glands. | MONDO: A carcinoma that involves the bulbo-urethral gland.
+BMGC_DS09454,BMG_DS035380,NCI: An adenocarcinoma that arises from the Littre glands. | MONDO: A carcinoma involving a male urethral gland.
+BMGC_DS09455,BMG_DS035381,NCI: A neurofibroma characterized by the presence of areas with increased cellularity. | MONDO: A neurofibroma characterized by the presence of areas with increased cellularity.
+BMGC_DS09456,BMG_DS035383,"SNOMEDCT_US: A rare slow-growing uterine cancer with histological characteristics of small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk human papilloma virus (HPV) types (16 and 33) has been reported in some cases. | MONDO: A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations."
+BMGC_DS09457,BMG_DS035384,"NCI: A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical-type, mesonephric-type, and atypical polypoid adenomyoma. | MONDO: A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma."
+BMGC_DS09458,BMG_DS035385,NCI: An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present. | MONDO: An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present.
+BMGC_DS09459,BMG_DS035386,NCI: A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates. | MONDO: A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.
+BMGC_DS09460,BMG_DS035387,NCI: An alveolar soft part sarcoma arising from the cervix. | MONDO: An alveolar soft part sarcoma arising from the cervix.
+BMGC_DS09461,BMG_DS035388,NCI: An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity. | MONDO: An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity.
+BMGC_DS09462,BMG_DS035390,"NCI: A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli. | MONDO: A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli."
+BMGC_DS09463,BMG_DS035391,"NCI: A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate. | MONDO: A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate."
+BMGC_DS09464,BMG_DS035392,NCI: Cervical adenocarcinoma that derives from Wolffian duct remnants and shows mesonephric differentiation. It is not associated with human papillomavirus infection. | MONDO: A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells.
+BMGC_DS09465,BMG_DS035393,"NCI: A benign or malignant neoplasm that arises from the cervix and is characterized by the presence of epithelial and mesenchymal elements. This category includes adenofibroma, adenomyoma, adenosarcoma, and carcinosarcoma."
+BMGC_DS09466,BMG_DS035394,NCI: A cervical mucinous adenocarcinoma that resembles a large intestinal adenocarcinoma. | MONDO: A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma.
+BMGC_DS09467,BMG_DS035395,"NCI: Cervical adenocarcinoma characterized by the presence of gastric differentiation. It is not associated with human papillomavirus infection. | MONDO: A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands."
+BMGC_DS09468,BMG_DS035396,NCI: A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells. | MONDO: A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells.
+BMGC_DS09469,BMG_DS035397,"SNOMEDCT_US: A rare subtype of malignant mixed epithelial and mesenchymal neoplasm composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The neoplasm may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. | MONDO: A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements."
+BMGC_DS09470,BMG_DS035399,NCI: A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen. | MONDO: A rare adenocarcinoma that arises from the cervix. It is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies are often seen.
+BMGC_DS09471,BMG_DS035400,NCI: A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present. | MONDO: A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present.
+BMGC_DS09472,BMG_DS035401,NCI: An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney. | MONDO: An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.
+BMGC_DS09473,BMG_DS035402,"NCI: A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. | MONDO: A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation."
+BMGC_DS09474,BMG_DS035403,NCI: An intrahepatic cholangiocarcinoma that arises from the canals of Hering. | MONDO: An intrahepatic cholangiocarcinoma that arises from the canals of Hering.
+BMGC_DS09475,BMG_DS035404,NCI: Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow. | MONDO: Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.
+BMGC_DS09476,BMG_DS035405,NCI: A morphologic variant of basal cell carcinoma characterized by the presence of clear cells. | MONDO: A morphologic variant of basal cell carcinoma characterized by the presence of clear cells.
+BMGC_DS09477,BMG_DS035406,NCI: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume. | MONDO: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.
+BMGC_DS09478,BMG_DS035407,NCI: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume. | MONDO: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.
+BMGC_DS09479,BMG_DS035409,"NCI: An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the endometrium. It is characterized by the presence of small malignant cells, necrotic changes, and an increased mitotic rate. | MONDO: A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically."
+BMGC_DS09480,BMG_DS035410,MONDO: A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells.
+BMGC_DS09481,BMG_DS035412,"NCI: A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium. | MONDO: A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium."
+BMGC_DS09482,BMG_DS035414,"NCI: A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. | MONDO: A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder."
+BMGC_DS09483,BMG_DS035415,"NCI: A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. | MONDO: A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells."
+BMGC_DS09484,BMG_DS035416,NCI: A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas. | MONDO: A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas.
+BMGC_DS09485,BMG_DS035418,"NCI: An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells. | MONDO: An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells."
+BMGC_DS09486,BMG_DS035419,"NCI: A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor. | MONDO: A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor."
+BMGC_DS09487,BMG_DS035420,NCI: An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas. | MONDO: An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas.
+BMGC_DS09488,BMG_DS035422,NCI: An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component. | MONDO: An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component.
+BMGC_DS09489,BMG_DS035424,NCI: A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma. | MONDO: A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma.
+BMGC_DS09490,BMG_DS035425,"NCI: A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally. | MONDO: A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally."
+BMGC_DS09491,BMG_DS035426,NCI: A rare transitional cell carcinoma that arises from the fallopian tube. | MONDO: A rare transitional cell carcinoma that arises from the fallopian tube.
+BMGC_DS09492,BMG_DS035427,NCI: A primary or metastatic malignant neoplasm that affects the female urethra. | MONDO: A cancer that involves the female urethra.
+BMGC_DS09493,BMG_DS035428,"NCI: A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules. | MONDO: A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules."
+BMGC_DS09494,BMG_DS035429,"NCI: A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules. | MONDO: A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules."
+BMGC_DS09495,BMG_DS035430,NCI: A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present. | MONDO: A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.
+BMGC_DS09496,BMG_DS035431,NCI: An invasive bladder urothelial carcinoma exhibiting micropapillary growth pattern. | MONDO: An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003
+BMGC_DS09497,BMG_DS035432,NCI: A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. | MONDO: A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.
+BMGC_DS09498,BMG_DS035433,"NCI: Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints. | MONDO: Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints."
+BMGC_DS09499,BMG_DS035435,NCI: An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. | MONDO: An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells.
+BMGC_DS09500,BMG_DS035437,NCI: A primary or metastatic malignant neoplasm that affects the male urethra. | MONDO: A cancer involving a male urethra.
+BMGC_DS09501,BMG_DS035438,"NCI: An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported. | MONDO: An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported."
+BMGC_DS09502,BMG_DS035439,NCI: A mixed epithelial and mesenchymal neoplasm that arises from the cervix. It is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.
+BMGC_DS09503,BMG_DS035441,"NCI: An invasive malignant neoplasm that arises from the ovary characterized by the presence of malignant, endometrial-type cells. It includes endometrioid adenocarcinoma and carcinosarcoma. | MONDO: A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells."
+BMGC_DS09504,BMG_DS035442,NCI: An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma. | MONDO: An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma.
+BMGC_DS09505,BMG_DS035443,"NCI: An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma. | MONDO: An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma."
+BMGC_DS09506,BMG_DS035444,"NCI: An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor."
+BMGC_DS09507,BMG_DS035445,"NCI: A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma. | MONDO: A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma."
+BMGC_DS09508,BMG_DS035446,"NCI: A non-invasive papillary neoplasm of the bladder urothelium. | MONDO: A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas."
+BMGC_DS09509,BMG_DS035447,NCI: A non-invasive neoplasm affecting the urothelium.
+BMGC_DS09510,BMG_DS035448,"NCI: A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. | MONDO: A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent."
+BMGC_DS09511,BMG_DS035449,NCI: A rare breast adenocarcinoma characterized by the presence of malignant oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population. | MONDO: A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population.
+BMGC_DS09512,BMG_DS035450,"NCI: A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. | MONDO: A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm."
+BMGC_DS09513,BMG_DS035451,"SNOMEDCT_US: A rare malignant, epithelial ovarian neoplasm, composed of clear, eosinophilic and hobnail cells displaying variable degrees of tubulocystic, papillary and solid histological patterns, macroscopically appearing as a typically unilateral mass in the ovary which ranges from solid to cystic. Patients are often diagnosed in early stages and usually present with pelvic pain and pressure, an abdominal mass and/or gastrointestinal problems, such as early satiety or bloating. Association with Lynch syndrome has been reported. | MONDO: A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia."
+BMGC_DS09514,BMG_DS035452,NCI: An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma. | MONDO: An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.
+BMGC_DS09515,BMG_DS035453,NCI: A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures. | MONDO: A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.
+BMGC_DS09516,BMG_DS035454,NCI: A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma. | MONDO: A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.
+BMGC_DS09517,BMG_DS035455,NCI: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells. | MONDO: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells.
+BMGC_DS09518,BMG_DS035456,NCI: A rare type of teratoma that arises from the ovary and resembles a malformed fetus. | MONDO: A rare type of teratoma that arises from the ovary and resembles a malformed fetus.
+BMGC_DS09519,BMG_DS035457,"HPO: The presence of a gonadoblastoma of the ovary. [eMedicine:986581, https://orcid.org/0000-0002-0736-9199] | MONDO: A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites."
+BMGC_DS09520,BMG_DS035458,NCI: A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected. | MONDO: A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.
+BMGC_DS09521,BMG_DS035459,NCI: A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement. | MONDO: A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement.
+BMGC_DS09522,BMG_DS035460,NCI: A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma. | MONDO: A benign neoplasm of the ovary characterized by the presence of glands with mucinous columnar epithelial cells in a fibrotic stroma.
+BMGC_DS09523,BMG_DS035461,NCI: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. | MONDO: A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma.
+BMGC_DS09524,BMG_DS035462,NCI: A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component. | MONDO: A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component.
+BMGC_DS09525,BMG_DS035463,NCI: A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma. | MONDO: A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.
+BMGC_DS09526,BMG_DS035467,"NCI: A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels. | MONDO: A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels."
+BMGC_DS09527,BMG_DS035468,NCI: An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass. | MONDO: An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass.
+BMGC_DS09528,BMG_DS035469,NCI: A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures. | MONDO: A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.
+BMGC_DS09529,BMG_DS035470,NCI: A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue. | MONDO: A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.
+BMGC_DS09530,BMG_DS035471,NCI: A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues. | MONDO: A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.
+BMGC_DS09531,BMG_DS035472,NCI: A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells. | MONDO: A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells.
+BMGC_DS09532,BMG_DS035474,"NCI: A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component. | MONDO: A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component."
+BMGC_DS09533,BMG_DS035475,NCI: A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma. | MONDO: A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma.
+BMGC_DS09534,BMG_DS035476,NCI: A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation. | MONDO: A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.
+BMGC_DS09535,BMG_DS035477,"NCI: A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present. | MONDO: A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present."
+BMGC_DS09536,BMG_DS035478,NCI: A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma. | MONDO: A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma.
+BMGC_DS09537,BMG_DS035479,"NCI: A low grade, unencapsulated neoplasm with papillary, tubular, or tubulopapillary architecture, less than 15 mm in size. | MONDO: A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei."
+BMGC_DS09538,BMG_DS035480,NCI: An invasive or non-invasive papillary urothelial carcinoma of the urinary bladder. It is classified as low or high-grade. | MONDO: An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003
+BMGC_DS09539,BMG_DS035481,NCI: A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans. | MONDO: A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans.
+BMGC_DS09540,BMG_DS035482,NCI: A primary or metastatic malignant neoplasm that affects the penile urethra. | MONDO: A urethra cancer that involves the penis.
+BMGC_DS09541,BMG_DS035483,NCI: A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts. | MONDO: A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts.
+BMGC_DS09542,BMG_DS035484,"NCI: A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported. | MONDO: A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported."
+BMGC_DS09543,BMG_DS035485,"NCI: An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive. | MONDO: An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive."
+BMGC_DS09544,BMG_DS035487,"ORPHANET: A rare tumor of salivary glands characterized by a benign, well-circumscribed, slow-growing, painless mass most commonly occurring in the parotid gland (but also the palate, submandibular gland, or nasal septal mucosa), histopathologically composed of epithelial and myoepithelial / stromal components. Possible signs and symptoms depend on the location of the tumor and include facial nerve weakness, mild dysphagia, or unilateral nasal obstruction. Recurrence rates are low, although tumor rupture and spillage have been reported. Malignant transformation may occur in a small percentage of cases. | MONDO: A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma)."
+BMGC_DS09545,BMG_DS035488,NCI: A basal cell carcinoma of the skin characterized by the presence of sarcomatoid features.
+BMGC_DS09546,BMG_DS035489,"NCI: A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells. | MONDO: A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells."
+BMGC_DS09547,BMG_DS035490,NCI: A very rare breast adenocarcinoma with sebaceous differentiation. | MONDO: A very rare breast adenocarcinoma with sebaceous differentiation.
+BMGC_DS09548,BMG_DS035491,NCI: An extremely rare adenocarcinoma that arises from the seminal vesicle. | MONDO: A carcinoma that arises from glandular epithelial cells of the seminal vesicle
+BMGC_DS09549,BMG_DS035492,NCI: A rare benign cystadenoma that arises from the seminal vesicle. | MONDO: A rare benign cystadenoma that arises from the seminal vesicle.
+BMGC_DS09550,BMG_DS035493,NCI: A rare type of basal cell carcinoma. It is characterized by the presence of mucin containing signet ring cells.
+BMGC_DS09551,BMG_DS035494,NCI: An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells. | MONDO: An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells.
+BMGC_DS09552,BMG_DS035496,NCI: A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern. | MONDO: A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.
+BMGC_DS09553,BMG_DS035497,NCI: A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization. | MONDO: A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization.
+BMGC_DS09554,BMG_DS035498,NCI: A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells. | MONDO: A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells.
+BMGC_DS09555,BMG_DS035500,NCI: A renal papillary adenoma which is characterized by basophilic cells with scant amount of cytoplasm.
+BMGC_DS09556,BMG_DS035501,NCI: A renal papillary adenoma which is characterized by eosinophilic cells.
+BMGC_DS09557,BMG_DS035503,NCI: A rare benign neoplasm that arises from the ureter and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium. | MONDO: A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter.
+BMGC_DS09558,BMG_DS035504,NCI: A rare benign neoplasm that arises from the urethra and is characterized by the presence of a papillary growth with a central fibrovascular core. The latter is lined by normal urothelium. | MONDO: Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003
+BMGC_DS09559,BMG_DS035505,NCI: A verrucous carcinoma arising from the urethra. | MONDO: A verrucous carcinoma that involves the urethra.
+BMGC_DS09560,BMG_DS035506,"NCI: An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern. | MONDO: An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern."
+BMGC_DS09561,BMG_DS035508,NCI: An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision. | MONDO: An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.
+BMGC_DS09562,BMG_DS035509,NCI: A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. | MONDO: A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.
+BMGC_DS09563,BMG_DS035510,"NCI: A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present. | MONDO: A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present."
+BMGC_DS09564,BMG_DS035511,NCI: A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma. | MONDO: A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma.
+BMGC_DS09565,BMG_DS035512,NCI: A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters. | MONDO: A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.
+BMGC_DS09566,BMG_DS035513,NCI: A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. | MONDO: A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.
+BMGC_DS09567,BMG_DS035514,"NCI: A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives. | MONDO: A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives."
+BMGC_DS09568,BMG_DS035517,NCI: A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm. | MONDO: A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.
+BMGC_DS09569,BMG_DS035519,"MONDO: A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin."
+BMGC_DS09570,BMG_DS035520,NCI: A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma. | MONDO: A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.
+BMGC_DS09571,BMG_DS035521,"NCI: A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. | MONDO: A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma."
+BMGC_DS09572,BMG_DS035522,NCI: A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall. | MONDO: A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall.
+BMGC_DS09573,BMG_DS035524,"NCI: A benign, borderline, or malignant neoplasm that affects the broad or other uterine ligaments. | MONDO: A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma."
+BMGC_DS09574,BMG_DS035525,NCI: A rare serous adenocarcinoma that arises from the broad or other uterine ligaments. | MONDO: A rare serous adenocarcinoma that arises from the uterine ligament.
+BMGC_DS09575,BMG_DS035527,NCI: A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation. | MONDO: A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation.
+BMGC_DS09576,BMG_DS035528,NCI: A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component. | MONDO: A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component.
+BMGC_DS09577,BMG_DS035529,NCI: An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component. | MONDO: An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.
+BMGC_DS09578,BMG_DS035530,"NCI: A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma. | MONDO: A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma."
+BMGC_DS09579,BMG_DS035531,"NCI: A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of epithelial and mesenchymal elements. This category includes benign mixed tumor, adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma."
+BMGC_DS09580,BMG_DS035533,"NCI: A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vagina. | MONDO: A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma."
+BMGC_DS09581,BMG_DS035534,NCI: An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern. | MONDO: An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern.
+BMGC_DS09582,BMG_DS035535,NCI: An adenoma that arises from the vagina and is characterized by a villous architectural pattern. | MONDO: An adenoma that arises from the vagina and is characterized by a villous architectural pattern.
+BMGC_DS09583,BMG_DS035536,NCI: A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva. | MONDO: A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva.
+BMGC_DS09584,BMG_DS035537,NCI: An alveolar soft part sarcoma arising from the vulva. | MONDO: An alveolar soft part sarcoma arising from the vulva.
+BMGC_DS09585,BMG_DS035538,NCI: A vulvar sweat gland carcinoma characterized by the presence of clear cells. | MONDO: A vulvar sweat gland carcinoma characterized by the presence of clear cells.
+BMGC_DS09586,BMG_DS035539,NCI: A porocarcinoma that arises from the sweat glands in the vulva. | MONDO: An eccrine porocarcinoma that arises from the sweat glands in the vulva.
+BMGC_DS09587,BMG_DS035540,"NCI: A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma. | MONDO: A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma."
+BMGC_DS09588,BMG_DS035542,NCI: Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies. | MONDO: Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies.
+BMGC_DS09589,BMG_DS035545,NCI: A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls. | MONDO: A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls.
+BMGC_DS09590,BMG_DS035546,NCI: An epithelioid sarcoma of the proximal type that arises from the vulva. | MONDO: An epithelioid sarcoma of the proximal type involving the vulva.
+BMGC_DS09591,BMG_DS035547,NCI: A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests. | MONDO: A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests.
+BMGC_DS09592,BMG_DS035548,"NCI: A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma. | MONDO: A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma."
+BMGC_DS09593,BMG_DS035551,NCI: An adnexal epithelial neoplasm of Wolffian (mesonephric) origin. It predominantly affects the broad ligament and presents as a unilateral adnexal mass. Most tumors behave in a benign fashion. | MONDO: A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass.
+BMGC_DS09594,BMG_DS035552,
+BMGC_DS09595,BMG_DS035555,"MONDO: A genetic syndrome which occurs in females. It is caused by the inheritance of only one complete X chromosome (45, X). Clinical signs of the symmetrical form are identical to those of Turner syndrome and include bilateral webbing of the neck and edema of the extremities. Clinical characteristics include decreased stature and under-developed sexual organs. Patients usually have a normal life expectancy. | MeSH: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant."
+BMGC_DS09596,BMG_DS035557,
+BMGC_DS09597,BMG_DS035558,"ORPHANET: A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood. | MONDO: An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN. | MeSH: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS)."
+BMGC_DS09598,BMG_DS035560,"NCI: Tooth-like structure formed from displaced odontogenic tissue, which may include dental papilla. | MONDO: Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition. | MeSH: CALCINOSIS of the DENTAL PULP or ROOT CANAL."
+BMGC_DS09599,BMG_DS035563,MeSH: A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.
+BMGC_DS09600,BMG_DS035564,NCI: An optical condition in the eye where there is an error of refraction of light rays on the retina. | MeSH: Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
+BMGC_DS09601,BMG_DS035565,"MeSH: Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)"
+BMGC_DS09602,BMG_DS035566,"MeSH: A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56)"
+BMGC_DS09603,BMG_DS035568,MeSH: A disease of the inner ear (LABYRINTH) that is characterized by fluctuating SENSORINEURAL HEARING LOSS; TINNITUS; episodic VERTIGO; and aural fullness. It is the most common form of endolymphatic hydrops.
+BMGC_DS09604,BMG_DS035569,"MeSH: A nutritional condition produced by a deficiency of VITAMIN B 6 in the diet, characterized by dermatitis, glossitis, cheilosis, and stomatitis. Marked deficiency causes irritability, weakness, depression, dizziness, peripheral neuropathy, and seizures. In infants and children typical manifestations are diarrhea, anemia, and seizures. Deficiency can be caused by certain medications, such as isoniazid."
+BMGC_DS09605,BMG_DS035570,"MeSH: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)"
+BMGC_DS09606,BMG_DS035571,"MONDO: An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain | MeSH: Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis."
+BMGC_DS09607,BMG_DS035572,MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
+BMGC_DS09608,BMG_DS035573,"SNOMEDCT_US: A rare fatal amyloid disease in young people caused by a mutation in cystatin C. This condition predisposes towards intracerebral hemorrhage and dementia and is inherited in a dominant pattern. | MONDO: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages. | MeSH: A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES."
+BMGC_DS09609,BMG_DS035574,"NCI: A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive breast carcinoma of no special type. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist. | MONDO: A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist."
+BMGC_DS09610,BMG_DS035575,"MeSH: Disease involving a spinal nerve root (see SPINAL NERVE ROOTS) which may result from compression related to INTERVERTEBRAL DISK DISPLACEMENT; SPINAL CORD INJURIES; SPINAL DISEASES; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root."
+BMGC_DS09611,BMG_DS035576,"MeSH: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years."
+BMGC_DS09612,BMG_DS035577,"MeSH: A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)"
+BMGC_DS09613,BMG_DS035579,"NCI: A nonimmunologic, chemically induced type of photosensitivity. | MeSH: A nonimmunologic, chemically induced type of photosensitivity producing a sometimes vesiculating dermatitis. It results in hyperpigmentation and desquamation of the light-exposed areas of the skin."
+BMGC_DS09614,BMG_DS035580,"HPO: A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages [HPO_CONTRIBUTOR:jalbers, PMID:28276060] | MeSH: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)"
+BMGC_DS09615,BMG_DS035581,"MeSH: An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA."
+BMGC_DS09616,BMG_DS035582,"MeSH: A common and benign breast disease characterized by varying degree of fibrocystic changes in the breast tissue. There are three major patterns of morphological changes, including FIBROSIS, formation of CYSTS, and proliferation of glandular tissue (adenosis). The fibrocystic breast has a dense irregular, lumpy, bumpy consistency."
+BMGC_DS09617,BMG_DS035583,"HPO: Isolated patches of hardened skin (scleroderma). [https://orcid.org/0000-0002-0736-9199] | MeSH: A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules."
+BMGC_DS09618,BMG_DS035586,"MeSH: Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome."
+BMGC_DS09619,BMG_DS035587,"MeSH: An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION."
+BMGC_DS09620,BMG_DS035590,
+BMGC_DS09621,BMG_DS035591,"NCI: An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss. | MONDO: An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss. | MeSH: A condition characterized by infiltration of the lung with EOSINOPHILS due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents."
+BMGC_DS09622,BMG_DS035592,
+BMGC_DS09623,BMG_DS035593,
+BMGC_DS09624,BMG_DS035594,NCI: A rare adenocarcinoma arising from the Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma. | MONDO: A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma.
+BMGC_DS09625,BMG_DS035616,
+BMGC_DS09626,BMG_DS035618,"ORPHANET: A rare developmental defect during embryogenesis characterized by the triad of anorectal malformations, presacral mass and sacral anomalies. | MONDO: Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae)."
+BMGC_DS09627,BMG_DS035650,
+BMGC_DS09628,BMG_DS035662,MeSH: Suppurative inflammation of the tissues of the internal structures of the eye frequently associated with an infection. | MeSH: Infectious condition of the internal eye.
+BMGC_DS09629,BMG_DS035708,"NCI: Congenital glaucoma that arises independent of another pathologic process, disease, or injury. | MONDO: Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs."
+BMGC_DS09630,BMG_DS035720,
+BMGC_DS09631,BMG_DS035723,
+BMGC_DS09632,BMG_DS035730,MONDO: A disease involving the skeletal muscle tissue.
+BMGC_DS09633,BMG_DS035732,
+BMGC_DS09634,BMG_DS036050,"MONDO: A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. | MeSH: Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576)"
+BMGC_DS09635,BMG_DS036052,"NCI: A childhood disorder that has a neurological basis and manifests as a developmental disability. | MONDO: A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions."
+BMGC_DS09636,BMG_DS036053,"MONDO: Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localized to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole."
+BMGC_DS09637,BMG_DS036054,"ORPHANET: A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. | MONDO: A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. | MeSH: Autoimmune diseases affecting multiple endocrine organs. Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency (ADDISON'S DISEASE), lymphocytic thyroiditis (THYROIDITIS, AUTOIMMUNE;), HYPOPARATHYROIDISM; and gonadal failure. In both types organ-specific ANTIBODIES against a variety of ENDOCRINE GLANDS have been detected. The type II syndrome differs from type I in that it is associated with HLA-A1 and B8 haplotypes, onset is usually in adulthood, and candidiasis is not present."
+BMGC_DS09638,BMG_DS036058,MeSH: Changes in quantitative and qualitative composition of MICROBIOTA. The changes may lead to altered host microbial interaction or homeostatic imbalance that can contribute to a disease state often with inflammation.
+BMGC_DS09639,BMG_DS036069,"ORPHANET: A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. | MONDO: A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the center of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity."
+BMGC_DS09640,BMG_DS036080,"NCI: A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma. | MONDO: Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence."
+BMGC_DS09641,BMG_DS036144,
+BMGC_DS09642,BMG_DS036273,
+BMGC_DS09643,BMG_DS036363,"NCI: An infectious process involving the endocardial layer of the heart. | MONDO: Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue."
+BMGC_DS09644,BMG_DS036424,
+BMGC_DS09645,BMG_DS036496,"NCI: Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. | MONDO: Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. | MeSH: Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)"
+BMGC_DS09646,BMG_DS036497,
+BMGC_DS09647,BMG_DS036499,NCI: Evidence of anemia in chronic kidney disease.
+BMGC_DS09648,BMG_DS036533,"ORPHANET: Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. | MONDO: Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity."
+BMGC_DS09649,BMG_DS036559,
+BMGC_DS09650,BMG_DS036560,"MONDO: A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response. | MeSH: A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with multibacillary leprosy have six or more lesions with or without positive skin smear results for the causative agent MYCOBACTERIUM LEPRAE. Multibacillary leprosy encompasses borderline lepromatous, midborderline, and lepromatous leprosy."
+BMGC_DS09651,BMG_DS036566,
+BMGC_DS09652,BMG_DS036574,
+BMGC_DS09653,BMG_DS036581,"ORPHANET: Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. | MONDO: Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment."
+BMGC_DS09654,BMG_DS036584,"MONDO: A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response. | MeSH: A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy."
+BMGC_DS09655,BMG_DS036592,
+BMGC_DS09656,BMG_DS036624,MeSH: Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
+BMGC_DS09657,BMG_DS036625,MeSH: Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
+BMGC_DS09658,BMG_DS036626,MeSH: A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY. | MeSH: X-linked congenital nephrogenic diabetes insipidus disorders occurring mostly in males and associated with V2 RECEPTOR mutations.
+BMGC_DS09659,BMG_DS036627,MeSH: Congenital nephrogenic diabetes insipidus associated with mutations of AQUAPORIN-2. | MeSH: A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.
+BMGC_DS09660,BMG_DS036628,"MeSH: An autoimmune disorder of the EYE, occurring in patients with Graves disease. Subtypes include congestive (inflammation of the orbital connective tissue), myopathic (swelling and dysfunction of the extraocular muscles), and mixed congestive-myopathic ophthalmopathy."
+BMGC_DS09661,BMG_DS036629,"MONDO: Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. | MeSH: A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential."
+BMGC_DS09662,BMG_DS036630,MeSH: The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY.
+BMGC_DS09663,BMG_DS036631,"NCI: The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. | MONDO: The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. | MeSH: A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait."
+BMGC_DS09664,BMG_DS036632,"MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene. | MeSH: A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait."
+BMGC_DS09665,BMG_DS036635,MeSH: Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes.
+BMGC_DS09666,BMG_DS036639,MeSH: Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.
+BMGC_DS09667,BMG_DS036640,"MeSH: Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE."
+BMGC_DS09668,BMG_DS036641,MeSH: Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions.
+BMGC_DS09669,BMG_DS036642,"MeSH: Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin."
+BMGC_DS09670,BMG_DS036643,"MeSH: Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin."
+BMGC_DS09671,BMG_DS036645,NCI: A meningioma that affects the posterior cranial fossa. | MONDO: A meningioma that affects the posterior cranial fossa.
+BMGC_DS09672,BMG_DS036646,"MONDO: OBSOLETE. Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. | MeSH: Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) occurring in the first week of life, but some can be a sign of pathological disorders, particularly LIVER DISEASES."
+BMGC_DS09673,BMG_DS036647,MeSH: Spontaneous tearing of the membranes surrounding the FETUS any time before the onset of OBSTETRIC LABOR. Preterm PROM is membrane rupture before 37 weeks of GESTATION.
+BMGC_DS09674,BMG_DS036648,"SNOMEDCT_US: A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. | MONDO: Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. | MeSH: A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY."
+BMGC_DS09675,BMG_DS036649,"MONDO: A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. | MeSH: A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE."
+BMGC_DS09676,BMG_DS036650,MeSH: A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
+BMGC_DS09677,BMG_DS036651,MeSH: A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
+BMGC_DS09678,BMG_DS036652,MeSH: A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
+BMGC_DS09679,BMG_DS036653,"NCI: A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. | MONDO: A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa."
+BMGC_DS09680,BMG_DS036654,"NCI: A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. | MONDO: A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. | MeSH: Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable."
+BMGC_DS09681,BMG_DS036655,"MONDO: Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene. | MeSH: Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable."
+BMGC_DS09682,BMG_DS036656,"MeSH: Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance."
+BMGC_DS09683,BMG_DS036657,"MONDO: The chronic degeneration of a tendon without inflammation. | MeSH: Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance."
+BMGC_DS09684,BMG_DS036658,"MeSH: INFLAMMATION of the soft tissues of the MOUTH, such as MUCOSA; PALATE; GINGIVA; and LIP."
+BMGC_DS09685,BMG_DS036762,
+BMGC_DS09686,BMG_DS036782,
+BMGC_DS09687,BMG_DS036785,"MeSH: A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA."
+BMGC_DS09688,BMG_DS036825,MONDO: A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.
+BMGC_DS09689,BMG_DS036844,
+BMGC_DS09690,BMG_DS036923,"NCI: A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract."
+BMGC_DS09691,BMG_DS036927,"MeSH: Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae, M. leprae."
+BMGC_DS09692,BMG_DS036929,"NCI: A congenital abnormality characterized by the absence of both kidneys. | MONDO: Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth."
+BMGC_DS09693,BMG_DS036931,"MONDO: Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives. | MeSH: The dormant form of TUBERCULOSIS where the person shows no obvious symptoms and no sign of the causative agent (Mycobacterium tuberculosis) in the SPUTUM despite being positive for tuberculosis infection skin test."
+BMGC_DS09694,BMG_DS036943,"MeSH: A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents."
+BMGC_DS09695,BMG_DS036944,
+BMGC_DS09696,BMG_DS036945,
+BMGC_DS09697,BMG_DS036946,
+BMGC_DS09698,BMG_DS036953,
+BMGC_DS09699,BMG_DS036955,
+BMGC_DS09700,BMG_DS036956,"ORPHANET: Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. | MONDO: Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. | MeSH: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)"
+BMGC_DS09701,BMG_DS036957,
+BMGC_DS09702,BMG_DS036959,"ORPHANET: Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. | MONDO: Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision."
+BMGC_DS09703,BMG_DS036963,"MeSH: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury."
+BMGC_DS09704,BMG_DS036964,"MONDO: A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant. | MeSH: A syndrome consisting of Duane's syndrome, radial ray anomaly, and frequently, HEARING LOSS, SENSORINEURAL. | MeSH: A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE."
+BMGC_DS09705,BMG_DS036995,NCI: Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene. | MONDO: Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.
+BMGC_DS09706,BMG_DS036996,
+BMGC_DS09707,BMG_DS037005,"MONDO: Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment."
+BMGC_DS09708,BMG_DS037026,"ORPHANET: Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe. | MONDO: Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe."
+BMGC_DS09709,BMG_DS037035,
+BMGC_DS09710,BMG_DS037038,"SNOMEDCT_US: A rare neurologic disease characterized by an early onset of positive and negative symptoms of psychosis that impact development and cognitive functioning. Clinical manifestations commonly include premorbid features of autism spectrum disorders, attention deficits, neurodevelopmental delays, and behavioral abnormalities. After the onset of psychotic symptoms, other comorbidities are also common, including obsessive-compulsive disorder, major depressive disorder, attention deficit hyperactivity disorder, expressive and receptive language disorders, auditory processing deficits and executive functioning deficits."
+BMGC_DS09711,BMG_DS037057,
+BMGC_DS09712,BMG_DS037063,ORPHANET: Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. | MONDO: Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.
+BMGC_DS09713,BMG_DS037073,
+BMGC_DS09714,BMG_DS037077,"MeSH: A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC)."
+BMGC_DS09715,BMG_DS037084,"NCI: The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. | MONDO: The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. | MeSH: Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES."
+BMGC_DS09716,BMG_DS037088,
+BMGC_DS09717,BMG_DS037092,HPO: Spontaneous development of hematomas (hematoma) or bruises without significant trauma. [https://orcid.org/0000-0003-2945-4463]
+BMGC_DS09718,BMG_DS037093,
+BMGC_DS09719,BMG_DS037096,
+BMGC_DS09720,BMG_DS037097,
+BMGC_DS09721,BMG_DS037099,MeSH: Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by bacterial CROSS INFECTION in hospitals.
+BMGC_DS09722,BMG_DS037104,"NCI: A malignant neoplasm that has spread from its original site of growth to the leptomeninges. | MONDO: Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia."
+BMGC_DS09723,BMG_DS037106,"MONDO: A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow."
+BMGC_DS09724,BMG_DS037109,"MeSH: An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS."
+BMGC_DS09725,BMG_DS037110,"MeSH: An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption."
+BMGC_DS09726,BMG_DS037111,"MeSH: A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES."
+BMGC_DS09727,BMG_DS037112,"NCI: A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the glomerular capillaries and the effacement of the surrounding epithelial cell foot processes worsening protein leakage. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure. | MeSH: A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA."
+BMGC_DS09728,BMG_DS037116,"MeSH: General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx."
+BMGC_DS09729,BMG_DS037117,"MONDO: Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. | MeSH: A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism."
+BMGC_DS09730,BMG_DS037119,"MeSH: A historical classification which is no longer used. It described acute glomerulonephritis, acute nephritic syndrome, or acute nephritis. Named for Richard Bright. | MeSH: Inflammation of the renal glomeruli (KIDNEY GLOMERULUS) that can be classified by the type of glomerular injuries including antibody deposition, complement activation, cellular proliferation, and glomerulosclerosis. These structural and functional abnormalities usually lead to HEMATURIA; PROTEINURIA; HYPERTENSION; and RENAL INSUFFICIENCY."
+BMGC_DS09731,BMG_DS037120,"MeSH: An experimental rat model of human membranous nephropathy characterized by complement activation and formation of subepithelial immune deposits in the glomerular capillary wall. | MeSH: A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane."
+BMGC_DS09732,BMG_DS037121,"MONDO: Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. | MeSH: A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS. | MeSH: The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules."
+BMGC_DS09733,BMG_DS037123,MeSH: Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia). | MeSH: A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
+BMGC_DS09734,BMG_DS037125,"ORPHANET: Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period. | MONDO: Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene. | MeSH: Edema due to obstruction of lymph vessels or disorders of the lymph nodes."
+BMGC_DS09735,BMG_DS037126,"ORPHANET: Meige disease is a frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty."
+BMGC_DS09736,BMG_DS037128,MeSH: Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.
+BMGC_DS09737,BMG_DS037129,"MONDO: A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time. | MeSH: A human disease caused by the infection of parasitic worms SCHISTOSOMA HAEMATOBIUM. It is endemic in AFRICA and parts of the MIDDLE EAST. Tissue damages most often occur in the URINARY TRACT, specifically the URINARY BLADDER."
+BMGC_DS09738,BMG_DS037130,"MONDO: A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest. | MeSH: Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less."
+BMGC_DS09739,BMG_DS037133,"NCI: An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. | MONDO: An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts."
+BMGC_DS09740,BMG_DS037141,MONDO: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene. | MeSH: A subtype of pachyonychia congenita that is associated with mutations in the gene for KERATIN-16 and the gene for KERATIN-6A. | MeSH: A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.
+BMGC_DS09741,BMG_DS037142,NCI: An extraskeletal myxoid chondrosarcoma occurring in adults. | MONDO: A myxoid chondrosarcoma occurring in adults.
+BMGC_DS09742,BMG_DS037143,"NCI: An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness. | MONDO: An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness."
+BMGC_DS09743,BMG_DS037147,"NCI: A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene. | MONDO: A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene."
+BMGC_DS09744,BMG_DS037150,"NCI: A medulloblastoma composed of malignant cells with hyperchromatic nucleus and scanty cytoplasm. Homer Wright rosettes may be present. | MONDO: Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia."
+BMGC_DS09745,BMG_DS037164,MONDO: An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.
+BMGC_DS09746,BMG_DS037165,"HPO: The presence of multiple leiomyomas of the skin. [https://orcid.org/0000-0002-0736-9199] | MONDO: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer."
+BMGC_DS09747,BMG_DS037166,"NCI: An autosomal dominant hereditary neoplastic syndrome caused by mutations in the SDHA,SDHB, SDHC, SDHD, and SDHAF2 genes. It is characterized by the development of paragangliomas and pheochromocytomas, gastrointestinal stromal tumors, and SDH-deficient renal cell carcinomas. | MONDO: Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas)."
+BMGC_DS09748,BMG_DS037168,"HPO: A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. [PMID:21585276, PMID:28050600] | MONDO: Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium."
+BMGC_DS09749,BMG_DS037177,"NCI: A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor. | MONDO: A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor."
+BMGC_DS09750,BMG_DS037185,"NCI: A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases."
+BMGC_DS09751,BMG_DS037198,"NCI: A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor. | MONDO: A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor."
+BMGC_DS09752,BMG_DS037203,"NCI: A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor. | MONDO: A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor."
+BMGC_DS09753,BMG_DS037208,NCI: A melanoma of the skin arising from a congenital melanocytic nevus.
+BMGC_DS09754,BMG_DS037220,MONDO: An instance of torsion dystonia that is acquired during the lifetime of the individual.
+BMGC_DS09755,BMG_DS037224,"ORPHANET: A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement."
+BMGC_DS09756,BMG_DS037249,"MeSH: Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK."
+BMGC_DS09757,BMG_DS037262,"ORPHANET: A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. | MONDO: Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia."
+BMGC_DS09758,BMG_DS037279,
+BMGC_DS09759,BMG_DS037284,
+BMGC_DS09760,BMG_DS037305,
+BMGC_DS09761,BMG_DS037309,
+BMGC_DS09762,BMG_DS037318,"HPO: Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. [https://orcid.org/0000-0002-0736-9199] | MONDO: Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2."
+BMGC_DS09763,BMG_DS037342,"ORPHANET: A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. | MONDO: Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia."
+BMGC_DS09764,BMG_DS037352,
+BMGC_DS09765,BMG_DS037353,
+BMGC_DS09766,BMG_DS037381,MeSH: Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.
+BMGC_DS09767,BMG_DS037382,"MeSH: Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins). | MeSH: A condition with abnormally low levels of PREBETA-LIPOPROTEINS in the blood."
+BMGC_DS09768,BMG_DS037383,"MeSH: Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity."
+BMGC_DS09769,BMG_DS037385,
+BMGC_DS09770,BMG_DS037386,"MeSH: An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)"
+BMGC_DS09771,BMG_DS037387,"NCI: An acute infection of the prostate gland caused by bacteria, most often Escherichia coli, Proteus mirabilis, Klebsiella, and Pseudomonas aeruginosa. Signs and symptoms include fever, lower back pain, urinary frequency, and painful urination. The urinalysis reveals the presence of white cells. Risk factors include intraprostatic ductal reflux, phimosis, urinary tract infections, and unprotected anal intercourse. | MeSH: Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment."
+BMGC_DS09772,BMG_DS037388,"NCI: Inflammation of the prostate gland that is not associated with any symptoms. It is characterized by the presence of inflammatory cells in the prostatic fluid. | MeSH: Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment."
+BMGC_DS09773,BMG_DS037389,"NCI: A chronic infection of the prostate gland caused by bacteria. It is manifested with recurring urinary tract infections. The culture of the prostatic fluid, semen, or post-massage urine specimen reveals the presence of bacteria. | MeSH: Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment."
+BMGC_DS09774,BMG_DS037390,"MeSH: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES."
+BMGC_DS09775,BMG_DS037392,MeSH: Pathological processes involving any part of the UTERUS.
+BMGC_DS09776,BMG_DS037393,"MeSH: Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN."
+BMGC_DS09777,BMG_DS037394,MONDO: The sudden loss of all heart activity due to an irregular heart rhythm.
+BMGC_DS09778,BMG_DS037395,MeSH: A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency.
+BMGC_DS09779,BMG_DS037397,"SNOMEDCT_US: A very rare form of familial partial lipodystrophy of unknown aetiology characterised by loss of adipose tissue that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated | MONDO: Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. | MeSH: Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA."
+BMGC_DS09780,BMG_DS037398,"MONDO: Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. | MeSH: Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA."
+BMGC_DS09781,BMG_DS037399,"MeSH: Inherited conditions characterized by the partial loss of ADIPOSE TISSUE, either confined to the extremities with normal or increased fat deposits on the face, neck and trunk (type 1), or confined to the loss of SUBCUTANEOUS FAT from the limbs and trunk (type 2). Type 3 is associated with mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA."
+BMGC_DS09782,BMG_DS037400,"MONDO: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene. | MeSH: Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA."
+BMGC_DS09783,BMG_DS037401,MONDO: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.
+BMGC_DS09784,BMG_DS037402,"MeSH: An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid."
+BMGC_DS09785,BMG_DS037403,"MeSH: Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE)."
+BMGC_DS09786,BMG_DS037404,"MeSH: Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE)."
+BMGC_DS09787,BMG_DS037405,"MONDO: A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. | MeSH: A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation. | MeSH: Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding activation-induced CYTIDINE DEAMINASE."
+BMGC_DS09788,BMG_DS037406,"MONDO: A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells. | MeSH: A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation. | MeSH: Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 ANTIGEN."
+BMGC_DS09789,BMG_DS037407,MONDO: Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene. | MeSH: A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
+BMGC_DS09790,BMG_DS037408,MeSH: An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.
+BMGC_DS09791,BMG_DS037409,MONDO: OBSOLETE. A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. | MeSH: A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS.
+BMGC_DS09792,BMG_DS037411,"MONDO: White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. | MeSH: An autosomal dominant disorder that is manifested by thickened spongiform ORAL MUCOSA with a white opalescent tint. Other MUCOSAL TISSUE may also be involved mucosa found in the VAGINA; RECTUM, and NASAL CAVITY may be similarly involved. This form of LEUKOKERATOSIS can be caused by a mutation in the gene for KERATIN 4 and is not considered a PRENEOPLASTIC CONDITION."
+BMGC_DS09793,BMG_DS037412,MeSH: An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.
+BMGC_DS09794,BMG_DS037413,MONDO: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. | MeSH: A subtype of pachyonychia congenita that is associated with mutations in the genes for KERATIN-17 or KERATIN-6B. | MeSH: A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.
+BMGC_DS09795,BMG_DS037415,"MeSH: A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system."
+BMGC_DS09796,BMG_DS037417,
+BMGC_DS09797,BMG_DS037418,"MeSH: Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment."
+BMGC_DS09798,BMG_DS037420,"MeSH: A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)"
+BMGC_DS09799,BMG_DS037423,MONDO: A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life. | MeSH: A congenital coronary vessel anomaly in which the left main CORONARY ARTERY originates from the PULMONARY ARTERY instead of from AORTA. The congenital heart defect typically results in coronary artery FISTULA; LEFT-SIDED HEART FAILURE and MITRAL VALVE INSUFFICIENCY during the first months of life.
+BMGC_DS09800,BMG_DS037434,"MONDO: A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. | MeSH: Autoimmune diabetes in adults with slowly progressive PANCREATIC BETA CELL failure and the presence of circulating autoantibodies to PANCREATIC ISLETS cell antigens."
+BMGC_DS09801,BMG_DS037436,"MeSH: Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both."
+BMGC_DS09802,BMG_DS037437,"SNOMEDCT_US: A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition. | MONDO: A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age."
+BMGC_DS09803,BMG_DS037438,"MONDO: Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers. | MeSH: A transient left ventricular apical dysfunction or ballooning accompanied by electrocardiographic (ECG) T wave inversions. This abnormality is associated with high levels of CATECHOLAMINES, either administered or endogenously secreted from a tumor or during extreme stress."
+BMGC_DS09804,BMG_DS037442,"MONDO: Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis."
+BMGC_DS09805,BMG_DS037446,NCI: Inflammation of the lungs due to the inhalation of solid or liquid material. | MONDO: Inflammation of the lungs due to the inhalation of solid or liquid material.
+BMGC_DS09806,BMG_DS037447,MONDO: A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.
+BMGC_DS09807,BMG_DS037448,"MeSH: A common interstitial lung disease of unknown etiology, usually occurring between 50-70 years of age. Clinically, it is characterized by an insidious onset of breathlessness with exertion and a nonproductive cough, leading to progressive DYSPNEA. Pathological features show scant interstitial inflammation, patchy collagen fibrosis, prominent fibroblast proliferation foci, and microscopic honeycomb change."
+BMGC_DS09808,BMG_DS037449,NCI: An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation. | MONDO: An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.
+BMGC_DS09809,BMG_DS037452,"NCI: A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and hypocalciuria. | MONDO: Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration."
+BMGC_DS09810,BMG_DS037454,
+BMGC_DS09811,BMG_DS037455,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.
+BMGC_DS09812,BMG_DS037478,
+BMGC_DS09813,BMG_DS037482,"SNOMEDCT_US: Totally (extremely) drug resistant TB is TB which is resistant to all the first and second line TB drugs. | MONDO: A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid. | MeSH: Tuberculosis resistant to ISONIAZID and RIFAMPIN and at least three of the six main classes of second-line drugs (AMINOGLYCOSIDES; polypeptide agents; FLUOROQUINOLONES; THIOAMIDES; CYCLOSERINE; and PARA-AMINOSALICYLIC ACID) as defined by the CDC."
+BMGC_DS09814,BMG_DS037488,
+BMGC_DS09815,BMG_DS037492,
+BMGC_DS09816,BMG_DS037499,
+BMGC_DS09817,BMG_DS037525,
+BMGC_DS09818,BMG_DS037547,
+BMGC_DS09819,BMG_DS037558,HPO: Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. [https://orcid.org/0000-0001-8727-6592]
+BMGC_DS09820,BMG_DS037573,
+BMGC_DS09821,BMG_DS037582,"NCI: A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma. | MONDO: Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure."
+BMGC_DS09822,BMG_DS037584,MONDO: Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene.
+BMGC_DS09823,BMG_DS037587,ORPHANET: Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. | MONDO: A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.
+BMGC_DS09824,BMG_DS037588,"SNOMEDCT_US: A syndromic developmental defect of the eye with characteristics of dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. There is evidence the syndrome is caused by homozygous mutation in the ASPH gene on chromosome 8q12. | MONDO: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs."
+BMGC_DS09825,BMG_DS037589,"ORPHANET: A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage. | MONDO: Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner."
+BMGC_DS09826,BMG_DS037590,MONDO: Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene.
+BMGC_DS09827,BMG_DS037591,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.
+BMGC_DS09828,BMG_DS037592,"SNOMEDCT_US: A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes. | MONDO: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)."
+BMGC_DS09829,BMG_DS037594,"SNOMEDCT_US: Syndrome with characteristics of deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. | MONDO: Human HOXA1 syndromes is characterized by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive."
+BMGC_DS09830,BMG_DS037595,"SNOMEDCT_US: Syndrome with characteristics of variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies, cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome, however unlike Athabaskan brain dysfunction syndrome it does not manifest central hypoventilation. | MONDO: Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation."
+BMGC_DS09831,BMG_DS037596,MONDO: An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14.
+BMGC_DS09832,BMG_DS037600,"ORPHANET: A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. | MONDO: Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea."
+BMGC_DS09833,BMG_DS037601,"NCI: An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the TNNT2 gene, encoding troponin T, cardiac muscle. | MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene."
+BMGC_DS09834,BMG_DS037602,"NCI: An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LDB3 gene, encoding LIM domain-binding protein 3. | MONDO: A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2."
+BMGC_DS09835,BMG_DS037603,"MONDO: Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described."
+BMGC_DS09836,BMG_DS037604,"NCI: Charcot-Marie-Tooth disease inherited in an autosomal dominant pattern. It is caused by mutations in the GARS gene. It results in axonal peripheral neuropathy. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow."
+BMGC_DS09837,BMG_DS037605,
+BMGC_DS09838,BMG_DS037607,"MONDO: A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia."
+BMGC_DS09839,BMG_DS037608,"SNOMEDCT_US: Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4, a demyelinating hereditary motor and sensory neuropathy. Main features described as gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade and sensorineural deafness usually manifesting in the second or third decade of life. CMT4D was first reported in the Bulgarian Romani community of Lom and to date, has mainly been associated with the Roma population. CMT4D is caused by a single ancestral mutation (p.R148X) in the NDRG1 gene (8q24) coding for the NDRG1 protein that has a role in the peripheral nervous system, possibly in Schwann cell signaling necessary for axonal survival. Transmission is autosomal recessive. | MONDO: Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported."
+BMGC_DS09840,BMG_DS037612,"SNOMEDCT_US: A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). | MONDO: Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)."
+BMGC_DS09841,BMG_DS037613,"SNOMEDCT_US: A rare primary bone dysplasia with characteristics of short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia. | MONDO: Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia."
+BMGC_DS09842,BMG_DS037614,"MONDO: A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995."
+BMGC_DS09843,BMG_DS037616,"SNOMEDCT_US: A rare genetic skeletal muscle disease with characteristics of abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. Caused by heterozygous, homozygous, or compound heterozygous mutation in the desmin gene (DES) on chromosome 2q35. | MONDO: A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure."
+BMGC_DS09844,BMG_DS037617,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.
+BMGC_DS09845,BMG_DS037618,MONDO: An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23.
+BMGC_DS09846,BMG_DS037619,NCI: K ATP channel-associated neonatal diabetes mellitus that resolves spontaneously.
+BMGC_DS09847,BMG_DS037621,"SNOMEDCT_US: Disease that is characterized by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait. | MONDO: This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL. | MONDO: The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes."
+BMGC_DS09848,BMG_DS037622,"SNOMEDCT_US: A rare multiple congenital anomalies syndrome with mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). May also present with neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. | MONDO: Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia."
+BMGC_DS09849,BMG_DS037623,
+BMGC_DS09850,BMG_DS037624,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene.
+BMGC_DS09851,BMG_DS037625,"NCI: A genetic condition inherited in an autosomal recessive caused by mutation(s) in the CDH23 gene, encoding cadherin-23, characterized by progressive sensorineural hearing loss. Mutation(s) in the CDH23 gene may also cause Usher syndrome 1D. | MONDO: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22."
+BMGC_DS09852,BMG_DS037626,"SNOMEDCT_US: Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. It was initially described in an Italian family and around 10 additional families have been described so far. Onset occurs during early childhood with distal and proximal muscular weakness starting in the lower extremities, sensory loss and cranial nerve involvement. Foot deformities are frequent and diaphragmatic and facial involvement has been reported. CMT4B1 is caused by mutations in the gene encoding myotubularin-related protein 2 (MTMR2; 11q22), involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. | MONDO: Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus)."
+BMGC_DS09853,BMG_DS037627,"SNOMEDCT_US: This syndrome has characteristics of craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). | MONDO: Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter)."
+BMGC_DS09854,BMG_DS037628,"SNOMEDCT_US: A severe disorder with characteristics of muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum and bilateral camptodactyly. Early in the neonatal period continuous hyperthermia develops (unrelated to infectious agents). Mutations in the CRLF1 gene are causative. Belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome. The disease is transmitted as an autosomal recessive trait. | MONDO: Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature."
+BMGC_DS09855,BMG_DS037631,"ORPHANET: A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition."
+BMGC_DS09856,BMG_DS037633,"HPO: A type of age-related cataract that primarily affects the nucleus of the lens. [https://orcid.org/0000-0002-0736-9199, PMID:15708105] | MONDO: Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected."
+BMGC_DS09857,BMG_DS037634,"ORPHANET: Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features. | MONDO: Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features."
+BMGC_DS09858,BMG_DS037635,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene.
+BMGC_DS09859,BMG_DS037636,
+BMGC_DS09860,BMG_DS037637,"NCI: A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. The NEBL gene, encoding nebulette, a heart-specific component of the sarcomere, may be responsible for the clinical findings. The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections. | MONDO: Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13."
+BMGC_DS09861,BMG_DS037638,"SNOMEDCT_US: Syndrome with characteristics of absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents. | MONDO: Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents."
+BMGC_DS09862,BMG_DS037640,
+BMGC_DS09863,BMG_DS037641,
+BMGC_DS09864,BMG_DS037642,"MONDO: Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate."
+BMGC_DS09865,BMG_DS037643,"MONDO: Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children."
+BMGC_DS09866,BMG_DS037646,"SNOMEDCT_US: A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP. | MONDO: A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies."
+BMGC_DS09867,BMG_DS037649,
+BMGC_DS09868,BMG_DS037650,"SNOMEDCT_US: A rare disorder with manifestation of hypo or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients are born with multiple teeth. Hair anomalies (sparse body and scalp hair) also reported. Inheritance is autosomal dominant. | MONDO: Ectodermal dysplasia with natal teeth, Turnpenny type is characterized by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant."
+BMGC_DS09869,BMG_DS037651,
+BMGC_DS09870,BMG_DS037652,
+BMGC_DS09871,BMG_DS037653,"SNOMEDCT_US: A rare autosomal dominant neurological disorder with characteristics of early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity and abnormal eye movements. | MONDO: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements."
+BMGC_DS09872,BMG_DS037655,"MONDO: Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed."
+BMGC_DS09873,BMG_DS037656,"ORPHANET: A rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. | MONDO: Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails."
+BMGC_DS09874,BMG_DS037658,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.
+BMGC_DS09875,BMG_DS037659,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene.
+BMGC_DS09876,BMG_DS037662,"SNOMEDCT_US: Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a limb-girdle muscular dystrophy with manifestations of limb-girdle weakness, cardiomyopathy and respiratory impairment. LGMD2F is caused by a deficit of a sarcoglycan protein and therefore belongs to a group of disorders named sarcoglycanopathy. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal."
+BMGC_DS09877,BMG_DS037664,
+BMGC_DS09878,BMG_DS037665,MONDO: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.
+BMGC_DS09879,BMG_DS037666,"NCI: An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype. | MONDO: An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype."
+BMGC_DS09880,BMG_DS037667,"SNOMEDCT_US: Cerebellar ataxia Cayman type has characteristics of psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. The prevalence is unknown, but the disorder is very rare in the general population. However, a founder mutation has led to a high incidence in the Cayman island population. The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin. | MONDO: Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia."
+BMGC_DS09881,BMG_DS037668,"MONDO: Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone."
+BMGC_DS09882,BMG_DS037669,
+BMGC_DS09883,BMG_DS037670,"NCI: A very rare genetic syndrome caused by deletions on the proximal short arm of chromosome 11. It is characterized by the presence of multiple exostoses and enlarged parietal foramina. | MONDO: Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)."
+BMGC_DS09884,BMG_DS037671,
+BMGC_DS09885,BMG_DS037675,"SNOMEDCT_US: An exceedingly rare form of brachyolmia with characteristics of mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. | MONDO: An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition."
+BMGC_DS09886,BMG_DS037676,"SNOMEDCT_US: A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy and a cutaneous phenotype with manifestation of peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Woolly hair appears from birth, palmoplantar keratoderma develops during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Symptoms of right heart failure appear during the end stages of the disease. | MONDO: A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma."
+BMGC_DS09887,BMG_DS037678,MONDO: A cataract that has material basis in variation in the region 17p13.
+BMGC_DS09888,BMG_DS037680,
+BMGC_DS09889,BMG_DS037681,"SNOMEDCT_US: Characterised by severe hypercalcaemia from birth and associated with major hyperparathyroidism. The prevalence is unknown, clinical manifestations are early and severe including respiratory distress, bone under mineralisation and multiple fractures. | MONDO: Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism."
+BMGC_DS09890,BMG_DS037682,"SNOMEDCT_US: A rare heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone (PTH) without other endocrine disorders or developmental defects. It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. The disease may be due to an activating mutation of the calcium-sensing receptor (CASR) gene. This is the most common genetic cause and is transmitted as an autosomal dominant trait. It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB) transcription factor. | MONDO: A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects."
+BMGC_DS09891,BMG_DS037683,"SNOMEDCT_US: A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24. | MONDO: Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia."
+BMGC_DS09892,BMG_DS037684,
+BMGC_DS09893,BMG_DS037686,"MONDO: This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies."
+BMGC_DS09894,BMG_DS037687,MONDO: Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene.
+BMGC_DS09895,BMG_DS037690,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.
+BMGC_DS09896,BMG_DS037691,"SNOMEDCT_US: A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11. | MONDO: Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger."
+BMGC_DS09897,BMG_DS037692,MONDO: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.
+BMGC_DS09898,BMG_DS037693,"SNOMEDCT_US: A rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait. | MONDO: Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay."
+BMGC_DS09899,BMG_DS037694,"NCI: A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG3 gene, encoding dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase. | MONDO: A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)."
+BMGC_DS09900,BMG_DS037697,
+BMGC_DS09901,BMG_DS037698,
+BMGC_DS09902,BMG_DS037699,"MONDO: Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant."
+BMGC_DS09903,BMG_DS037700,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.
+BMGC_DS09904,BMG_DS037701,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.
+BMGC_DS09905,BMG_DS037703,
+BMGC_DS09906,BMG_DS037704,MONDO: A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.
+BMGC_DS09907,BMG_DS037705,"ORPHANET: A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age. | MONDO: A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34."
+BMGC_DS09908,BMG_DS037706,
+BMGC_DS09909,BMG_DS037709,"NCI: An autosomal dominant subtype of familial hemiplegic migraine caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A."
+BMGC_DS09910,BMG_DS037710,NCI: A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. | MONDO: A migraine disorder characterized by an aura that includes motor weakness and the absence of family history.
+BMGC_DS09911,BMG_DS037711,"NCI: An autosomal dominant condition caused by mutation(s) in the CACNA1C gene, encoding voltage-dependent L-type calcium channel subunit alpha-1C. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. | MONDO: Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders."
+BMGC_DS09912,BMG_DS037712,
+BMGC_DS09913,BMG_DS037713,"ORPHANET: A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without &lt;i&gt;ATP2A1&lt;/i&gt; mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common. | MONDO: Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder."
+BMGC_DS09914,BMG_DS037714,
+BMGC_DS09915,BMG_DS037715,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene.
+BMGC_DS09916,BMG_DS037716,
+BMGC_DS09917,BMG_DS037717,"SNOMEDCT_US: Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21."
+BMGC_DS09918,BMG_DS037719,"SNOMEDCT_US: A rare genetic renal malformation syndrome with characteristics of variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. | MONDO: Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging."
+BMGC_DS09919,BMG_DS037720,
+BMGC_DS09920,BMG_DS037721,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene.
+BMGC_DS09921,BMG_DS037722,
+BMGC_DS09922,BMG_DS037723,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.
+BMGC_DS09923,BMG_DS037724,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene.
+BMGC_DS09924,BMG_DS037725,MONDO: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.
+BMGC_DS09925,BMG_DS037726,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.
+BMGC_DS09926,BMG_DS037728,"HPO: Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. [PMID:7528239] | MONDO: A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis."
+BMGC_DS09927,BMG_DS037729,"MONDO: Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones."
+BMGC_DS09928,BMG_DS037730,"NCI: Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that does not resolve spontaneously. | MONDO: Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment."
+BMGC_DS09929,BMG_DS037732,"HPO: A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199] | MONDO: A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33."
+BMGC_DS09930,BMG_DS037733,"SNOMEDCT_US: A very rare syndrome with characteristics of blepharophimosis, arachnodactyly, joint contractures and dysmorphic features. Ten cases from seven families have been reported in the literature. The dysmorphic features include narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, blepharophimosis, large ears and high-arched or cleft palate. The affected patients can have learning disabilities. The condition is transmitted as an autosomal recessive trait. | MONDO: Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features."
+BMGC_DS09931,BMG_DS037734,
+BMGC_DS09932,BMG_DS037738,ORPHANET: A rare genetic disease characterized by the association of early onset cataract with persistently raised plasma ferritin concentrations in the absence of iron overload. | MONDO: Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
+BMGC_DS09933,BMG_DS037740,"SNOMEDCT_US: A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood."
+BMGC_DS09934,BMG_DS037741,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene.
+BMGC_DS09935,BMG_DS037742,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the PRKAG2 gene, encoding 5'-AMP-activated protein kinase subunit gamma-2. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene."
+BMGC_DS09936,BMG_DS037743,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.
+BMGC_DS09937,BMG_DS037745,MONDO: A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21.
+BMGC_DS09938,BMG_DS037746,MONDO: Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.
+BMGC_DS09939,BMG_DS037747,"SNOMEDCT_US: A form of severe combined immunodeficiency with severe and recurrent infections, associated with diarrhea and failure to thrive. The disease is characterized by a lack of circulating T and NK (Natural Killer) cells and normal number of B lymphocytes. Results from a defect in the JAK3 gene encoding an intracellular tyrosine kinase, the Janus activating kinase 3 required for cytokine-mediated signalling. Transmission is autosomal recessive. | MONDO: Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."
+BMGC_DS09940,BMG_DS037749,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.
+BMGC_DS09941,BMG_DS037750,"ORPHANET: A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life."
+BMGC_DS09942,BMG_DS037751,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12.
+BMGC_DS09943,BMG_DS037752,"SNOMEDCT_US: An early-onset chorioretinal dystrophy with characteristics of large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision and slow disease progression. It has been described in two large families. Transmission is autosomal dominant and the causative gene has been mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. | MONDO: Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression."
+BMGC_DS09944,BMG_DS037753,"SNOMEDCT_US: A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. | MONDO: Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested."
+BMGC_DS09945,BMG_DS037754,HPO: A kind of craniosynostosis affecting the lambdoidal suture. [https://orcid.org/0000-0002-0736-9199] | MONDO: Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene. | MeSH: Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
+BMGC_DS09946,BMG_DS037756,
+BMGC_DS09947,BMG_DS037757,MONDO: Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.
+BMGC_DS09948,BMG_DS037758,
+BMGC_DS09949,BMG_DS037760,"NCI: Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. | MONDO: Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes."
+BMGC_DS09950,BMG_DS037761,"HPO: An increased concentration of 2-hydroxyglutaric acid in the urine. [https://orcid.org/0000-0002-0736-9199, PMID:20847235] | MONDO: D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid."
+BMGC_DS09951,BMG_DS037762,"ORPHANET: A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery."
+BMGC_DS09952,BMG_DS037763,"SNOMEDCT_US: A rare multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases. | MONDO: Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system."
+BMGC_DS09953,BMG_DS037765,MONDO: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.
+BMGC_DS09954,BMG_DS037766,"MONDO: A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal."
+BMGC_DS09955,BMG_DS037767,
+BMGC_DS09956,BMG_DS037768,
+BMGC_DS09957,BMG_DS037769,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene.
+BMGC_DS09958,BMG_DS037770,"ORPHANET: The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term). | MONDO: The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency."
+BMGC_DS09959,BMG_DS037771,"ORPHANET: The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. | MONDO: The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease."
+BMGC_DS09960,BMG_DS037772,"ORPHANET: The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. | MONDO: The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure."
+BMGC_DS09961,BMG_DS037773,
+BMGC_DS09962,BMG_DS037775,"ORPHANET: A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive. | MONDO: UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population."
+BMGC_DS09963,BMG_DS037777,
+BMGC_DS09964,BMG_DS037779,
+BMGC_DS09965,BMG_DS037780,"MONDO: Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process."
+BMGC_DS09966,BMG_DS037781,"SNOMEDCT_US: Syndrome that is characterised by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. | MONDO: HEC syndrome is characterized by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed."
+BMGC_DS09967,BMG_DS037782,"SNOMEDCT_US: An autosomal dominant disorder due to a sodium channelopathy and characterized by skin flushing and severe pain. Attacks can start in infancy where the pain is typically concentrated in the lower part of the body, with progression of age the location of pain may change to affect the head and face. | MONDO: Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation."
+BMGC_DS09968,BMG_DS037783,"ORPHANET: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. | MONDO: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure."
+BMGC_DS09969,BMG_DS037784,"SNOMEDCT_US: Pacman dysplasia has characteristics of epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. The syndrome may be inherited as an autosomal recessive trait. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal. | MONDO: Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal."
+BMGC_DS09970,BMG_DS037785,HPO: The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS09971,BMG_DS037786,
+BMGC_DS09972,BMG_DS037787,
+BMGC_DS09973,BMG_DS037789,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis with characteristics of distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. | MONDO: A rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated."
+BMGC_DS09974,BMG_DS037790,
+BMGC_DS09975,BMG_DS037791,ORPHANET: Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. | MONDO: Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.
+BMGC_DS09976,BMG_DS037792,
+BMGC_DS09977,BMG_DS037793,"SNOMEDCT_US: An exceedingly rare autosomal dominant disorder reported in only a few patients to date with characteristics of dacryocystitis due to lacrimal canal stenosis and osteopoikilosis (demonstrated radiologically as discrete spherical osteosclerotic lesions of 2-10 mm in diameter). | MONDO: Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter)."
+BMGC_DS09978,BMG_DS037794,"ORPHANET: A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. | MONDO: A osteopoikilosis (disease) that is not part of a larger syndrome."
+BMGC_DS09979,BMG_DS037797,
+BMGC_DS09980,BMG_DS037798,"SNOMEDCT_US: A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission. | MONDO: Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission."
+BMGC_DS09981,BMG_DS037800,
+BMGC_DS09982,BMG_DS037801,
+BMGC_DS09983,BMG_DS037802,"SNOMEDCT_US: Syndrome characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. It has been described in three out of nine children from one family. | MONDO: OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia."
+BMGC_DS09984,BMG_DS037803,"MONDO: Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct."
+BMGC_DS09985,BMG_DS037804,"SNOMEDCT_US: Syndrome with characteristics of facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. | MONDO: Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993."
+BMGC_DS09986,BMG_DS037805,NCI: A congenital abnormality characterized by the underdevelopment of both optic nerves.
+BMGC_DS09987,BMG_DS037806,
+BMGC_DS09988,BMG_DS037808,"SNOMEDCT_US: A form of autosomal dominant optic atrophy with characteristics of early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. Caused by mutations in the OPA3 gene (19q13.32)."
+BMGC_DS09989,BMG_DS037810,
+BMGC_DS09990,BMG_DS037811,
+BMGC_DS09991,BMG_DS037812,
+BMGC_DS09992,BMG_DS037813,
+BMGC_DS09993,BMG_DS037814,"SNOMEDCT_US: Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested. | MONDO: Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms."
+BMGC_DS09994,BMG_DS037815,
+BMGC_DS09995,BMG_DS037816,NCI: A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b). | MONDO: An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome.
+BMGC_DS09996,BMG_DS037820,"SNOMEDCT_US: A rare genetic neuromuscular disease with characteristics of progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. | MONDO: Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown."
+BMGC_DS09997,BMG_DS037821,"SNOMEDCT_US: An autosomal dominant dysmorphic disorder with characteristics hypotelorism, blepharophimosis, facial asymmetry, small posteriorly angulated ears, a long prominent nose, a small mouth and an array of cleft palate abnormalities. Cutaneous syndactyly of the fingers and toes is a recurrent manifestation. Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties. Hypospadias is frequently reported in males. Transmission is autosomal dominant with variable expressivity. | MONDO: Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males."
+BMGC_DS09998,BMG_DS037823,
+BMGC_DS09999,BMG_DS037824,
+BMGC_DS10000,BMG_DS037826,
+BMGC_DS10001,BMG_DS037827,
+BMGC_DS10002,BMG_DS037828,MONDO: Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.
+BMGC_DS10003,BMG_DS037829,"HPO: Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic. [PMID:30354828]"
+BMGC_DS10004,BMG_DS037832,
+BMGC_DS10005,BMG_DS037833,"MONDO: A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. | MeSH: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure."
+BMGC_DS10006,BMG_DS037837,
+BMGC_DS10007,BMG_DS037838,"MONDO: An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm."
+BMGC_DS10008,BMG_DS037839,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene.
+BMGC_DS10009,BMG_DS037840,
+BMGC_DS10010,BMG_DS037841,
+BMGC_DS10011,BMG_DS037842,
+BMGC_DS10012,BMG_DS037843,
+BMGC_DS10013,BMG_DS037844,
+BMGC_DS10014,BMG_DS037845,
+BMGC_DS10015,BMG_DS037846,MONDO: A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.
+BMGC_DS10016,BMG_DS037850,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.
+BMGC_DS10017,BMG_DS037851,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
+BMGC_DS10018,BMG_DS037852,"SNOMEDCT_US: Rare multiple congenital contracture syndrome characterized by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. | MONDO: Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."
+BMGC_DS10019,BMG_DS037853,
+BMGC_DS10020,BMG_DS037854,
+BMGC_DS10021,BMG_DS037856,"SNOMEDCT_US: An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible. | MeSH: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality."
+BMGC_DS10022,BMG_DS037857,"ORPHANET: Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. | MONDO: Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia."
+BMGC_DS10023,BMG_DS037858,"SNOMEDCT_US: A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. | MONDO: Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997."
+BMGC_DS10024,BMG_DS037859,ORPHANET: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. | MONDO: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
+BMGC_DS10025,BMG_DS037860,ORPHANET: Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. | MONDO: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene. | MONDO: Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
+BMGC_DS10026,BMG_DS037861,"MONDO: This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss."
+BMGC_DS10027,BMG_DS037863,
+BMGC_DS10028,BMG_DS037864,"HPO: A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. [PMID:22966823] | MONDO: A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission."
+BMGC_DS10029,BMG_DS037865,
+BMGC_DS10030,BMG_DS037866,
+BMGC_DS10031,BMG_DS037868,
+BMGC_DS10032,BMG_DS037870,
+BMGC_DS10033,BMG_DS037871,MONDO: Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.
+BMGC_DS10034,BMG_DS037872,
+BMGC_DS10035,BMG_DS037873,"NCI: A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. | MONDO: A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles."
+BMGC_DS10036,BMG_DS037874,
+BMGC_DS10037,BMG_DS037875,
+BMGC_DS10038,BMG_DS037876,"SNOMEDCT_US: Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walking on the balls of the feet. Some also have weakness in upper limb muscles. Contractures of the hips, knees, feet, and ankles may occur and in severe cases may be present from birth. Muscle problems are apparent in infancy or early childhood however about one-quarter of affected individuals do not develop muscle weakness until adulthood. Caused by mutations in the DYNC1H1 gene or BICD2 gene."
+BMGC_DS10039,BMG_DS037877,"MONDO: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene."
+BMGC_DS10040,BMG_DS037878,"MONDO: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene."
+BMGC_DS10041,BMG_DS037879,
+BMGC_DS10042,BMG_DS037880,
+BMGC_DS10043,BMG_DS037883,
+BMGC_DS10044,BMG_DS037884,
+BMGC_DS10045,BMG_DS037885,
+BMGC_DS10046,BMG_DS037886,
+BMGC_DS10047,BMG_DS037889,"MONDO: MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype."
+BMGC_DS10048,BMG_DS037890,
+BMGC_DS10049,BMG_DS037891,
+BMGC_DS10050,BMG_DS037892,MONDO: Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
+BMGC_DS10051,BMG_DS037894,MONDO: Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene.
+BMGC_DS10052,BMG_DS037896,NCI: A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. | MONDO: A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.
+BMGC_DS10053,BMG_DS037899,
+BMGC_DS10054,BMG_DS037900,
+BMGC_DS10055,BMG_DS037901,
+BMGC_DS10056,BMG_DS037903,"MONDO: Microcornea-glaucoma-absent frontal sinuses syndrome is characterized by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant."
+BMGC_DS10057,BMG_DS037904,
+BMGC_DS10058,BMG_DS037905,
+BMGC_DS10059,BMG_DS037908,"SNOMEDCT_US: A rare skeletal disease with characteristics of symmetric shortening of the middle segments of limbs and short stature. It has been described in five families. In the upper limbs, the ulnae are very short, and the radii are bowed. The distal humerus has a dumbbell shape. The hands show progressive flexion contractures of the proximal interphalangeal joints. In the lower limbs, feet are fixed in plantar flexion so that the patients walk on their toe tips. All affected patients have normal craniofacial features and intelligence. Two micro duplications have been identified on chromosome 2 (2q31.1-q31.2), separated by a segment of normal copy number. In all families, the condition is transmitted as an autosomal dominant trait. | MONDO: Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature."
+BMGC_DS10060,BMG_DS037910,
+BMGC_DS10061,BMG_DS037911,
+BMGC_DS10062,BMG_DS037912,"ORPHANET: Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development. | MONDO: Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development."
+BMGC_DS10063,BMG_DS037915,"SNOMEDCT_US: An extremely rare tumour association characterised by dual predisposition to melanoma and neural system tumours (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumour, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumours, and in other cases, melanoma was a secondary cancer. The aetiology of this tumour association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome. | MONDO: Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma)."
+BMGC_DS10064,BMG_DS037916,
+BMGC_DS10065,BMG_DS037917,"MONDO: Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)"
+BMGC_DS10066,BMG_DS037918,
+BMGC_DS10067,BMG_DS037920,
+BMGC_DS10068,BMG_DS037922,"SNOMEDCT_US: An idiopathic developmental disorder with characteristics of median cleft of the upper lip, midline polyps of the facial skin and nasal mucosa and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia. Normal neuropsychological development was reported in all but one case that presented with epileptic seizures. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients. | MONDO: Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development."
+BMGC_DS10069,BMG_DS037923,
+BMGC_DS10070,BMG_DS037926,
+BMGC_DS10071,BMG_DS037927,
+BMGC_DS10072,BMG_DS037930,"SNOMEDCT_US: A mild form of familial primary hypomagnesaemia characterised by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localised on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant. | MONDO: Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed."
+BMGC_DS10073,BMG_DS037932,
+BMGC_DS10074,BMG_DS037933,
+BMGC_DS10075,BMG_DS037934,
+BMGC_DS10076,BMG_DS037935,MONDO: An inherited susceptibility or predisposition to developing psoriatic arthritis.
+BMGC_DS10077,BMG_DS037936,"ORPHANET: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. | MONDO: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."
+BMGC_DS10078,BMG_DS037937,"MONDO: Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children."
+BMGC_DS10079,BMG_DS037939,
+BMGC_DS10080,BMG_DS037941,
+BMGC_DS10081,BMG_DS037945,
+BMGC_DS10082,BMG_DS037947,
+BMGC_DS10083,BMG_DS037948,
+BMGC_DS10084,BMG_DS037949,SNOMEDCT_US: A minor trait of the lip transmitted in an autosomal dominant fashion. It has been described through several generations from three families in Japan. In all cases the nodule was asymptomatic and strictly isolated. | MONDO: Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.
+BMGC_DS10085,BMG_DS037950,
+BMGC_DS10086,BMG_DS037951,MONDO: An instance of lichen planus that is caused by an inherited modification of the individual's genome.
+BMGC_DS10087,BMG_DS037952,
+BMGC_DS10088,BMG_DS037953,
+BMGC_DS10089,BMG_DS037954,
+BMGC_DS10090,BMG_DS037955,"ORPHANET: Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the &lt;i&gt;COL2A1&lt;/i&gt; gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families."
+BMGC_DS10091,BMG_DS037956,"ORPHANET: Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner. | MONDO: Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner."
+BMGC_DS10092,BMG_DS037957,
+BMGC_DS10093,BMG_DS037958,
+BMGC_DS10094,BMG_DS037961,MONDO: Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.
+BMGC_DS10095,BMG_DS037962,
+BMGC_DS10096,BMG_DS037964,
+BMGC_DS10097,BMG_DS037965,
+BMGC_DS10098,BMG_DS037966,
+BMGC_DS10099,BMG_DS037967,"SNOMEDCT_US: A hereditary neurological disorder with characteristics of excessive startle responses. The disease manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high frequency trembling. Motor milestones are often mildly delayed, but intellectual development is usually normal. Mutations in the GLRA1 gene (5q32) are found in about 30% of patients. These mutations are transmitted as an autosomal dominant or recessive trait. The GLRA1 gene encodes the alpha1 subunit of the juvenile neuronal receptor for the inhibitory neurotransmitter, glycine. Mutations of this subunit cause a variety of dysfunctions of the neuronal chloride (Cl-) channel. Mutations in the GLRB, GPHN and SLC6A5 genes (4q31.3, 14q24 and 11p15.2-p15.1) have also been observed. | MONDO: Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses."
+BMGC_DS10100,BMG_DS037968,"SNOMEDCT_US: A very rare form of focal palmoplantar keratoderma with characteristics of painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial and lingual attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. | MONDO: Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement."
+BMGC_DS10101,BMG_DS037969,"SNOMEDCT_US: A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype | MONDO: Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.."
+BMGC_DS10102,BMG_DS037970,"MONDO: Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant."
+BMGC_DS10103,BMG_DS037971,"ORPHANET: A rare genetic disease characterized by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and esophageal leukokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the esophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. | MONDO: An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern."
+BMGC_DS10104,BMG_DS037972,"ORPHANET: A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near&amp;#8208;normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy."
+BMGC_DS10105,BMG_DS037973,"SNOMEDCT_US: A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12. | MONDO: Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance."
+BMGC_DS10106,BMG_DS037974,MONDO: Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.
+BMGC_DS10107,BMG_DS037975,"SNOMEDCT_US: A rare ophthalmic disorder characterised by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperaemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant."
+BMGC_DS10108,BMG_DS037976,"SNOMEDCT_US: Opacification and vascularization of the cornea, often associated with macula hypoplasia. The prevalence is unknown. The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene. The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. | MONDO: Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia."
+BMGC_DS10109,BMG_DS037977,
+BMGC_DS10110,BMG_DS037980,
+BMGC_DS10111,BMG_DS037981,MONDO: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.
+BMGC_DS10112,BMG_DS037982,
+BMGC_DS10113,BMG_DS037984,"NCI: Fanconi anemia caused by mutation(s) in the PALB2 gene, encoding partner and localizer of BRCA2. | MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene."
+BMGC_DS10114,BMG_DS037986,MONDO: Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.
+BMGC_DS10115,BMG_DS037987,MONDO: Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.
+BMGC_DS10116,BMG_DS037988,MONDO: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.
+BMGC_DS10117,BMG_DS037989,"MONDO: Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections."
+BMGC_DS10118,BMG_DS037990,
+BMGC_DS10119,BMG_DS037991,"MONDO: Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter."
+BMGC_DS10120,BMG_DS037992,"SNOMEDCT_US: This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. | MONDO: DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity."
+BMGC_DS10121,BMG_DS037993,
+BMGC_DS10122,BMG_DS037994,
+BMGC_DS10123,BMG_DS037995,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.
+BMGC_DS10124,BMG_DS037997,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.
+BMGC_DS10125,BMG_DS037998,
+BMGC_DS10126,BMG_DS038000,MONDO: Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.
+BMGC_DS10127,BMG_DS038001,"SNOMEDCT_US: An exceedingly rare genetic gastroenterological disease characterised by severe malabsorption diarrhoea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhoea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development. | MONDO: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported."
+BMGC_DS10128,BMG_DS038002,
+BMGC_DS10129,BMG_DS038003,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.
+BMGC_DS10130,BMG_DS038004,
+BMGC_DS10131,BMG_DS038005,"SNOMEDCT_US: Cone dystrophy with supernormal rod response is an inherited retinopathy, with an onset in the first or second decade of life. The disease has characteristics of poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia and occasionally nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of the disease is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. | MONDO: Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation."
+BMGC_DS10132,BMG_DS038006,MONDO: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.
+BMGC_DS10133,BMG_DS038007,
+BMGC_DS10134,BMG_DS038008,MONDO: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.
+BMGC_DS10135,BMG_DS038010,MONDO: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.
+BMGC_DS10136,BMG_DS038011,
+BMGC_DS10137,BMG_DS038012,ORPHANET: An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. | MONDO: Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.
+BMGC_DS10138,BMG_DS038013,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.
+BMGC_DS10139,BMG_DS038016,MONDO: A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.
+BMGC_DS10140,BMG_DS038017,MONDO: A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.
+BMGC_DS10141,BMG_DS038018,"NCI: An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban. | MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene."
+BMGC_DS10142,BMG_DS038020,MONDO: A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
+BMGC_DS10143,BMG_DS038021,
+BMGC_DS10144,BMG_DS038022,MONDO: OBSOLETE. Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene.
+BMGC_DS10145,BMG_DS038027,
+BMGC_DS10146,BMG_DS038029,MONDO: Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.
+BMGC_DS10147,BMG_DS038031,"SNOMEDCT_US: A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. | MONDO: A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2."
+BMGC_DS10148,BMG_DS038034,
+BMGC_DS10149,BMG_DS038035,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.
+BMGC_DS10150,BMG_DS038036,MONDO: Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.
+BMGC_DS10151,BMG_DS038037,"SNOMEDCT_US: A neurocutaneous syndrome with characteristics of severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. It is caused by mutations in the SNAP29 gene (22q11.2) that encodes a SNARE protein involved in vesicle fusion. The disease is inherited as an autosomal recessive condition. | MONDO: CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis."
+BMGC_DS10152,BMG_DS038038,"MONDO: Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases."
+BMGC_DS10153,BMG_DS038040,
+BMGC_DS10154,BMG_DS038041,SNOMEDCT_US: A rare hereditary non-syndromic form of vitreoretinopathy with characteristics of retinal tears due to abnormal vitreous and commonly present refractive errors. No other signs or symptoms of Stickler syndrome are present. Can be caused by mutation in the COL2A1 gene. | MONDO: Autosomal dominant form of rhegmatogenous retinal detachment.
+BMGC_DS10155,BMG_DS038042,
+BMGC_DS10156,BMG_DS038045,"SNOMEDCT_US: A rare genetic bone development disorder with characteristics of pre and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia) and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life. Caused by mutation in the B3GALT6 gene on chromosome 1p36. | MONDO: An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality."
+BMGC_DS10157,BMG_DS038046,"SNOMEDCT_US: A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. There are familial and sporadic forms of the same disease. The disease is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death."
+BMGC_DS10158,BMG_DS038047,"SNOMEDCT_US: A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1. | MONDO: A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability."
+BMGC_DS10159,BMG_DS038049,
+BMGC_DS10160,BMG_DS038050,"SNOMEDCT_US: A rare genetic non-dystrophic myofibrillar myopathy disorder with characteristics of late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later of the proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Caused by heterozygous mutation in the ZASP gene on chromosome 10."
+BMGC_DS10161,BMG_DS038051,SNOMEDCT_US: This syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Transmission is autosomal dominant.
+BMGC_DS10162,BMG_DS038052,
+BMGC_DS10163,BMG_DS038053,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.
+BMGC_DS10164,BMG_DS038054,
+BMGC_DS10165,BMG_DS038055,"SNOMEDCT_US: A novel and distinct form of non-syndromic syndactyly including complete syndactyly of the third and fourth fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the second and third toes and fifth finger clinodactyly. It has been described in two families. The locus for this complex limb malformation was mapped to chromosome 17p13.3. The condition is transmitted as an autosomal recessive trait. | MONDO: Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly."
+BMGC_DS10166,BMG_DS038056,
+BMGC_DS10167,BMG_DS038057,MONDO: The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.
+BMGC_DS10168,BMG_DS038058,MONDO: A holoprosencephaly that has material basis in variation in the chromosome region 14q13.
+BMGC_DS10169,BMG_DS038059,MONDO: Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.
+BMGC_DS10170,BMG_DS038064,MONDO: A cataract that has material basis in variation in the region 19q13.
+BMGC_DS10171,BMG_DS038065,"SNOMEDCT_US: A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. Prevalence is unknown but 2 families have been reported to date. Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant. | MONDO: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema."
+BMGC_DS10172,BMG_DS038067,"SNOMEDCT_US: A pure form of hereditary spastic paraplegia with a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. The disease is caused by homozygous or compound heterozygous mutation in the DDHD1 gene on chromosome 14q22. | MONDO: Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs."
+BMGC_DS10173,BMG_DS038068,
+BMGC_DS10174,BMG_DS038071,"SNOMEDCT_US: A rare primary bone dysplasia characterized by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. | MONDO: Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated."
+BMGC_DS10175,BMG_DS038072,"NCI: Rhabdoid tumor predisposition syndrome caused by mutation(s) in the SMARCB1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1. | MONDO: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene."
+BMGC_DS10176,BMG_DS038073,"SNOMEDCT_US: MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive. | MONDO: MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)."
+BMGC_DS10177,BMG_DS038074,"SNOMEDCT_US: Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner. | MONDO: Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy"
+BMGC_DS10178,BMG_DS038075,"SNOMEDCT_US: Limb-girdle muscular dystrophy type 2K has characteristics of onset of muscle wasting during childhood, associated with intellectual deficit. Moderate muscular hypertrophy and microcephaly are also present. So far, the syndrome has been described in ten boys, the majority of whom came from consanguineous Turkish families. The disease is caused by mutations in the POMT1 gene (chromosome 9) encoding O-mannosyltransferase 1, an enzyme involved in protein glycosylation. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported."
+BMGC_DS10179,BMG_DS038076,"SNOMEDCT_US: Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare. | MONDO: Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia."
+BMGC_DS10180,BMG_DS038077,"SNOMEDCT_US: A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from one American family of Norwegian descent. Disease onset occurs between the ages of 26-60. A candidate gene has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. Inherited autosomal dominantly. | MONDO: Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities."
+BMGC_DS10181,BMG_DS038079,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described."
+BMGC_DS10182,BMG_DS038080,
+BMGC_DS10183,BMG_DS038081,MONDO: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.
+BMGC_DS10184,BMG_DS038082,"NCI: An autosomal dominant myopathy caused by mutation(s) in the TPM2 gene, encoding tropomyosin beta chain. Classification of nemaline myopathies by clinical features is not optimal, as the phenotypes are highly variable. | MONDO: Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene."
+BMGC_DS10185,BMG_DS038083,
+BMGC_DS10186,BMG_DS038084,MONDO: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.
+BMGC_DS10187,BMG_DS038085,MONDO: Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.
+BMGC_DS10188,BMG_DS038087,"SNOMEDCT_US: A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (for example decreased vibration sense), eye movement anomalies (such as nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. There is evidence the disease is caused by compound heterozygous mutation in the TPP1 gene on chromosome 11p15. | MONDO: Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner."
+BMGC_DS10189,BMG_DS038089,"NCI: An autosomal dominant cancer predisposition syndrome caused by germline mutations of the CHEK2 gene. It is associated with breast carcinoma, gastric carcinoma, colorectal carcinoma, thyroid gland carcinoma, kidney carcinoma, prostate carcinoma, and non-Hodgkin lymphoma. | MONDO: OBSOLETE. Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene."
+BMGC_DS10190,BMG_DS038090,
+BMGC_DS10191,BMG_DS038091,
+BMGC_DS10192,BMG_DS038092,
+BMGC_DS10193,BMG_DS038093,
+BMGC_DS10194,BMG_DS038094,
+BMGC_DS10195,BMG_DS038095,
+BMGC_DS10196,BMG_DS038096,
+BMGC_DS10197,BMG_DS038097,"HPO: A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. [HPO_CONTRIBUTOR:jalbers, https://orcid.org/0000-0002-0736-9199, PMID:11580774, PMID:28276060, PMID:28276064]"
+BMGC_DS10198,BMG_DS038098,MONDO: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.
+BMGC_DS10199,BMG_DS038099,
+BMGC_DS10200,BMG_DS038101,ORPHANET: A very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. | MONDO: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
+BMGC_DS10201,BMG_DS038102,SNOMEDCT_US: A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. | MONDO: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
+BMGC_DS10202,BMG_DS038103,MONDO: A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.
+BMGC_DS10203,BMG_DS038104,
+BMGC_DS10204,BMG_DS038105,MONDO: Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.
+BMGC_DS10205,BMG_DS038106,
+BMGC_DS10206,BMG_DS038107,NCI: A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia.
+BMGC_DS10207,BMG_DS038108,"SNOMEDCT_US: A rare complex type of hereditary spastic paraplegia with characteristics of the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria) and bladder disturbances. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. | MONDO: A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1."
+BMGC_DS10208,BMG_DS038109,MeSH: An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME. | MeSH: Loeys-Dietz Syndrome with aortic aneurysm or dissection.
+BMGC_DS10209,BMG_DS038110,HPO: A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS10210,BMG_DS038111,"NCI: A congenital disorder of glycosylation sub-type caused by mutation(s) in the MPDU1 gene, encoding mannose-P-dolichol utilization defect 1 protein. | MONDO: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies."
+BMGC_DS10211,BMG_DS038113,MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene.
+BMGC_DS10212,BMG_DS038114,"SNOMEDCT_US: A multiple congenital anomalies syndrome, described in one family to date, with characteristics of branchial cysts or fistula, ear malformations, congenital hearing loss (conductive, sensorineural, and mixed), internal auditory canal hypoplasia, strabismus, trismus, abnormal fifth fingers, vitiliginous lesions, short stature and mild learning disability. Renal and urethral abnormalities are absent. | MONDO: Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent."
+BMGC_DS10213,BMG_DS038117,"SNOMEDCT_US: A form of skeletal dysplasia with characteristics of severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. So far, less than 20 patients have been reported, including multiple members of five families from the Czech Republic. Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces. Mutations in the COL2A1 gene have been detected in several of the reported patients. Transmission is autosomal dominant. | MONDO: A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies."
+BMGC_DS10214,BMG_DS038118,"MONDO: An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity."
+BMGC_DS10215,BMG_DS038120,"MONDO: An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis."
+BMGC_DS10216,BMG_DS038121,"MONDO: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history."
+BMGC_DS10217,BMG_DS038122,
+BMGC_DS10218,BMG_DS038124,MONDO: Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.
+BMGC_DS10219,BMG_DS038125,"SNOMEDCT_US: Rare syndrome with the association of the features of Waardenburg Shah and neurological features namely neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. Autonomic dysfunction (reduced saliva production, sweating and tearing, and bradycardia and arrhythmia) may also be present. Delayed white matter myelination is present on brain MRI, and may also be responsible for neuropathy at the peripheral level. Hirschsprung disease is sometimes absent. Most of the cases are caused by mutations involving the SOX10 gene (22q13.1): either a large deletion or point mutation located in the last two exons. | MONDO: A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy."
+BMGC_DS10220,BMG_DS038126,MONDO: Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.
+BMGC_DS10221,BMG_DS038127,"SNOMEDCT_US: An inherited developmental defect syndrome with features of multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. | MONDO: Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal."
+BMGC_DS10222,BMG_DS038128,
+BMGC_DS10223,BMG_DS038130,"SNOMEDCT_US: A mild form of limb girdle muscular dystrophy that has characteristics of limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation. | MONDO: Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed."
+BMGC_DS10224,BMG_DS038131,
+BMGC_DS10225,BMG_DS038132,"ORPHANET: A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. | MONDO: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis."
+BMGC_DS10226,BMG_DS038133,"NCI: A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction. | MONDO: Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement."
+BMGC_DS10227,BMG_DS038134,
+BMGC_DS10228,BMG_DS038135,"SNOMEDCT_US: Disease with characteristics of recurrent seizures and profound disruption of brain development. Onset is within the first few weeks after birth. The seizures tend to be refractory to treatment. Most affected children have severe intellectual disability. Vision and hearing may be normal at birth but become impaired as the disease progresses. Some affected individuals have changes in skin pigmentation. Mutations in the ST3GAL5 gene have been found to cause GM3 synthase deficiency. This gene provides instructions for the enzyme GM3 synthase, which carries out a chemical reaction that is the first step in the production of gangliosides. ST3GAL5 gene mutations prevent the production of any functional GM3 synthase. Without this enzyme, cells cannot produce gangliosides normally. | MONDO: GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications."
+BMGC_DS10229,BMG_DS038136,NCI: Reversion to an earlier stage of development.
+BMGC_DS10230,BMG_DS038137,"MONDO: Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
+BMGC_DS10231,BMG_DS038138,"NCI: Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. | MONDO: Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein."
+BMGC_DS10232,BMG_DS038139,"NCI: Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. | MONDO: Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein."
+BMGC_DS10233,BMG_DS038140,"SNOMEDCT_US: A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity."
+BMGC_DS10234,BMG_DS038141,"NCI: An autosomal recessive disorder caused by mutation(s) in the LAMB2 gene, encoding laminin subunit beta-2. It is characterized by congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities. | MONDO: Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria."
+BMGC_DS10235,BMG_DS038142,
+BMGC_DS10236,BMG_DS038144,"SNOMEDCT_US: A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. | MONDO: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1."
+BMGC_DS10237,BMG_DS038145,"NCI: An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the PKP2 gene on chromosome 12p11, encoding plakophilin 2. It is characterized by right ventricular structural abnormalities and arrhythmias, electrocardiographic depolarization/repolarization changes, and sudden death. | MONDO: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene."
+BMGC_DS10238,BMG_DS038146,
+BMGC_DS10239,BMG_DS038147,
+BMGC_DS10240,BMG_DS038148,"SNOMEDCT_US: Syndrome that is characterised by the association of progressive sensory ataxia and retinitis pigmentosa. Around 20 cases have been described in the last 50 years. Onset of symptoms usually occurs in childhood. The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalised areflexia and diffuse pigmentary retinopathy leading to blindness. Scoliosis, camptodactyly, achalasia and/or gastrointestinal motility dysfunction may also be present. The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localised to the AXPC1 locus (1q32-q31). | MONDO: Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa."
+BMGC_DS10241,BMG_DS038149,"ORPHANET: A constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. | MONDO: Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities."
+BMGC_DS10242,BMG_DS038151,
+BMGC_DS10243,BMG_DS038152,
+BMGC_DS10244,BMG_DS038153,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.
+BMGC_DS10245,BMG_DS038154,
+BMGC_DS10246,BMG_DS038155,
+BMGC_DS10247,BMG_DS038156,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.
+BMGC_DS10248,BMG_DS038157,MONDO: Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.
+BMGC_DS10249,BMG_DS038158,
+BMGC_DS10250,BMG_DS038159,"SNOMEDCT_US: A multiple malformation syndrome with characteristics of congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Less than 15 patients have been reported worldwide. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. All patients reported to date died in early childhood. | MONDO: Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations."
+BMGC_DS10251,BMG_DS038160,"NCI: An autosomal recessive severe combined immunodeficiency, the phenotype of which is caused by mutation(s) in the IL7R or PTPRC genes, encoding interleukin-7 receptor subunit alpha and receptor-type tyrosine-protein phosphatase C (CD45) respectively."
+BMGC_DS10252,BMG_DS038161,MONDO: Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.
+BMGC_DS10253,BMG_DS038162,SNOMEDCT_US: A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8 positive T cells with normal immunoglobulin and specific antibody titers in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity ranges from fatal respiratory insufficiency to mild or asymptomatic phenotypes. | MONDO: Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.
+BMGC_DS10254,BMG_DS038163,"MONDO: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive."
+BMGC_DS10255,BMG_DS038166,"NCI: An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the CHRNE gene, encoding acetylcholine receptor subunit epsilon. | MONDO: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
+BMGC_DS10256,BMG_DS038167,
+BMGC_DS10257,BMG_DS038168,
+BMGC_DS10258,BMG_DS038169,MONDO: Any myopia in which the cause of the disease is a mutation in the SCO2 gene.
+BMGC_DS10259,BMG_DS038170,
+BMGC_DS10260,BMG_DS038175,
+BMGC_DS10261,BMG_DS038176,MONDO: Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.
+BMGC_DS10262,BMG_DS038177,NCI: Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the UNC13D gene. | MONDO: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.
+BMGC_DS10263,BMG_DS038178,MONDO: Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.
+BMGC_DS10264,BMG_DS038179,MONDO: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.
+BMGC_DS10265,BMG_DS038180,
+BMGC_DS10266,BMG_DS038181,MONDO: Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.
+BMGC_DS10267,BMG_DS038182,MONDO: Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.
+BMGC_DS10268,BMG_DS038183,MONDO: A cleft palate that is not part of a larger syndrome.
+BMGC_DS10269,BMG_DS038184,MONDO: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
+BMGC_DS10270,BMG_DS038185,"MONDO: Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."
+BMGC_DS10271,BMG_DS038189,
+BMGC_DS10272,BMG_DS038191,MONDO: Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.
+BMGC_DS10273,BMG_DS038193,MONDO: Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
+BMGC_DS10274,BMG_DS038196,MONDO: Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.
+BMGC_DS10275,BMG_DS038197,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Caused by homozygous mutation in the titin gene (TTN). | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset."
+BMGC_DS10276,BMG_DS038198,MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.
+BMGC_DS10277,BMG_DS038199,ORPHANET: Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. | MONDO: Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
+BMGC_DS10278,BMG_DS038200,"NCI: A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPM1 gene, encoding dolichol-phosphate mannosyltransferase subunit 1. | MONDO: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common."
+BMGC_DS10279,BMG_DS038202,
+BMGC_DS10280,BMG_DS038203,"ORPHANET: Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period. | MONDO: Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period."
+BMGC_DS10281,BMG_DS038205,SNOMEDCT_US: Main features described as cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Other features include dysexecutive disorders and commonly psychiatric disorders. | MONDO: Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.
+BMGC_DS10282,BMG_DS038206,
+BMGC_DS10283,BMG_DS038208,
+BMGC_DS10284,BMG_DS038209,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.
+BMGC_DS10285,BMG_DS038210,NCI: Insufficient circulating insulin-like growth factor-I. | MONDO: Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
+BMGC_DS10286,BMG_DS038212,"SNOMEDCT_US: Disease that has characteristics of disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. The syndrome has been described in a large consanguineous Arab Muslim family. It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner. | MONDO: A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands."
+BMGC_DS10287,BMG_DS038214,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.
+BMGC_DS10288,BMG_DS038215,SNOMEDCT_US: A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia and prominent sensory neuropathy. Fewer than 10 cases in a 4-generation French family have been reported to date. Age of onset ranges from 1 to 39 years. The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. Some patients exhibit gastrointestinal disorders such as vomiting and abdominal pain as initial symptoms. Scoliosis and urinary problems are also observed. Maps to chromosome 2p15-p21. | MONDO: Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.
+BMGC_DS10289,BMG_DS038219,"SNOMEDCT_US: An extremely severe inborn error of purine biosynthesis with clinical characteristics in the single reported case to date of profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows and shoulders and congenital blindness. In the one reported case the disease was caused by compound heterozygous mutation in the ATIC gene on chromosome 2q35. | MONDO: AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness."
+BMGC_DS10290,BMG_DS038220,SNOMEDCT_US: A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3. | MONDO: Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.
+BMGC_DS10291,BMG_DS038221,"MONDO: Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine."
+BMGC_DS10292,BMG_DS038222,"MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow."
+BMGC_DS10293,BMG_DS038223,"MONDO: Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness."
+BMGC_DS10294,BMG_DS038226,"MONDO: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3."
+BMGC_DS10295,BMG_DS038227,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.
+BMGC_DS10296,BMG_DS038228,"SNOMEDCT_US: A rare syndromic congenital ichthyosis with characteristics of premature birth in addition to thick caseous and desquamating epidermis, neonatal respiratory asphyxia and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. The disease is caused by mutation in the FATP4 (SLC27A4) gene. | MONDO: Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy."
+BMGC_DS10297,BMG_DS038229,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.
+BMGC_DS10298,BMG_DS038231,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.
+BMGC_DS10299,BMG_DS038232,"NCI: An inherited ciliary motility defect caused by mutation(s) in the DNAH5 gene, encoding dynein heavy chain 5, axonemal. | MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene."
+BMGC_DS10300,BMG_DS038233,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.
+BMGC_DS10301,BMG_DS038234,
+BMGC_DS10302,BMG_DS038235,"SNOMEDCT_US: A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. | MONDO: CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal."
+BMGC_DS10303,BMG_DS038236,"NCI: Abnormally late development of the coordination of the muscles, bones, and/or nerves that produces whole body and large muscle group movements."
+BMGC_DS10304,BMG_DS038237,
+BMGC_DS10305,BMG_DS038238,"NCI: An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the AHI1 gene, encoding Jouberin. | MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene."
+BMGC_DS10306,BMG_DS038239,"NCI: An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the VAPB gene, encoding vesicle-associated membrane protein-associated protein B/C. | MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene."
+BMGC_DS10307,BMG_DS038240,
+BMGC_DS10308,BMG_DS038241,
+BMGC_DS10309,BMG_DS038242,
+BMGC_DS10310,BMG_DS038243,
+BMGC_DS10311,BMG_DS038245,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with onset associated with development of foot deformity and walking difficulties between the first and the eighth decades. Weakness and sensory loss involve primarily the legs and ankles, tendon reflexes are reduced. The disease has a slowly progressive course."
+BMGC_DS10312,BMG_DS038248,MONDO: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene.
+BMGC_DS10313,BMG_DS038249,
+BMGC_DS10314,BMG_DS038251,"SNOMEDCT_US: An extremely rare multiple congenital anomaly syndrome with characteristics of bilateral choanal atresia associated with cranio-facial dysmorphism, that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlap considerably with those of the CHARGE syndrome. | MONDO: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome."
+BMGC_DS10315,BMG_DS038253,"MONDO: Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism."
+BMGC_DS10316,BMG_DS038254,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.
+BMGC_DS10317,BMG_DS038255,MONDO: Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene.
+BMGC_DS10318,BMG_DS038256,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.
+BMGC_DS10319,BMG_DS038259,
+BMGC_DS10320,BMG_DS038260,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.
+BMGC_DS10321,BMG_DS038261,"MONDO: Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia."
+BMGC_DS10322,BMG_DS038262,MONDO: A schizophrenia that has material basis in a mutation on chromosome 1p36.2.
+BMGC_DS10323,BMG_DS038263,
+BMGC_DS10324,BMG_DS038264,"MONDO: Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death."
+BMGC_DS10325,BMG_DS038268,
+BMGC_DS10326,BMG_DS038269,"MONDO: Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically."
+BMGC_DS10327,BMG_DS038270,
+BMGC_DS10328,BMG_DS038273,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.
+BMGC_DS10329,BMG_DS038274,MONDO: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.
+BMGC_DS10330,BMG_DS038275,"SNOMEDCT_US: A rare genetic familial partial epilepsy disease with characteristics of focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. | MONDO: A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution."
+BMGC_DS10331,BMG_DS038276,MONDO: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.
+BMGC_DS10332,BMG_DS038277,"MONDO: An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)."
+BMGC_DS10333,BMG_DS038278,"NCI: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. | MONDO: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha."
+BMGC_DS10334,BMG_DS038279,
+BMGC_DS10335,BMG_DS038280,"SNOMEDCT_US: Belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidemia and mitochondrial myopathy. Less than 10 cases have been described so far. A 656C-->T mutation in the nuclear pseudouridine synthase 1 gene (PUS1), localized to 12q24.33, has recently been identified in some patients. Deficient pseudouridylation of mitochondrial tRNAs may be responsible for the oxidative phosphorylation disorder. Transmission is autosomal recessive. | MONDO: Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy."
+BMGC_DS10336,BMG_DS038283,"SNOMEDCT_US: A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. | MONDO: Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit."
+BMGC_DS10337,BMG_DS038284,"MONDO: Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities)."
+BMGC_DS10338,BMG_DS038285,"HPO: Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. [https://orcid.org/0000-0002-0736-9199, PMID:20400390] | MONDO: Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood."
+BMGC_DS10339,BMG_DS038286,
+BMGC_DS10340,BMG_DS038288,"MONDO: Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability."
+BMGC_DS10341,BMG_DS038289,"SNOMEDCT_US: A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome. The characteristics of this syndrome are progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect and ureteral anomalies. To date 5 unrelated patients have been reported, including one family with multiple affected persons. This syndrome is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Transmitted as an autosomal dominant trait. | MONDO: A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies."
+BMGC_DS10342,BMG_DS038290,MONDO: Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.
+BMGC_DS10343,BMG_DS038291,"MONDO: Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies."
+BMGC_DS10344,BMG_DS038292,
+BMGC_DS10345,BMG_DS038293,"SNOMEDCT_US: A form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Caused by mutations in the NIPA1 gene (15q11.2) encoding the magnesium transporter NIPA1. | MONDO: Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment."
+BMGC_DS10346,BMG_DS038294,"SNOMEDCT_US: An extremely rare variant of aplasia cutis congenita with characteristics of congenital absence of skin on the upper and/or lower limbs. These lesions usually heal spontaneously resulting in a hypotrichotic scar. May be associated with junctional epidermolysis bullosa. There have been no further descriptions in the literature since 1980. | MONDO: Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980."
+BMGC_DS10347,BMG_DS038295,
+BMGC_DS10348,BMG_DS038296,"ORPHANET: A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with adult onset, slowly progressive, mild proximal muscle weakness. | MONDO: Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
+BMGC_DS10349,BMG_DS038298,
+BMGC_DS10350,BMG_DS038300,
+BMGC_DS10351,BMG_DS038301,"MONDO: A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life."
+BMGC_DS10352,BMG_DS038303,
+BMGC_DS10353,BMG_DS038304,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis. A syndrome characterised by the association of congenital poikiloderma (P), generalised alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. | MONDO: PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990."
+BMGC_DS10354,BMG_DS038306,"MONDO: This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus."
+BMGC_DS10355,BMG_DS038308,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene.
+BMGC_DS10356,BMG_DS038311,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.
+BMGC_DS10357,BMG_DS038312,"SNOMEDCT_US: A form of multiple epiphyseal dysplasia manifesting as normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early onset osteoarthrosis. Specific features include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. The disease follows an autosomal dominant mode of transmission. | MONDO: Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission."
+BMGC_DS10358,BMG_DS038317,"SNOMEDCT_US: Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant. | MONDO: Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)."
+BMGC_DS10359,BMG_DS038318,SNOMEDCT_US: A very rare syndrome with the association of thin and short upper and lower tarsus and absence of the lower eyelashes. It has been described in 11 patients from a four-generation family. There is no other unusual feature. Inheritance is autosomal dominant. | MONDO: Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes.
+BMGC_DS10360,BMG_DS038319,SNOMEDCT_US: Syndrome that is characterized by the association of epibulbar dermoids and aplasia cutis congenital. | MONDO: Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.
+BMGC_DS10361,BMG_DS038320,
+BMGC_DS10362,BMG_DS038321,MONDO: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.
+BMGC_DS10363,BMG_DS038322,
+BMGC_DS10364,BMG_DS038323,"MONDO: Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant."
+BMGC_DS10365,BMG_DS038324,"SNOMEDCT_US: A rare genetic bone developmental disorder with characteristics of short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. | MONDO: Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported."
+BMGC_DS10366,BMG_DS038325,"ORPHANET: A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs."
+BMGC_DS10367,BMG_DS038326,
+BMGC_DS10368,BMG_DS038327,MONDO: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.
+BMGC_DS10369,BMG_DS038328,
+BMGC_DS10370,BMG_DS038329,"ORPHANET: Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa. | MONDO: Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa."
+BMGC_DS10371,BMG_DS038330,"SNOMEDCT_US: An inherited non-syndromic congenital ichthyosis characterised by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatised regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular oedema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. | MONDO: Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment."
+BMGC_DS10372,BMG_DS038331,
+BMGC_DS10373,BMG_DS038332,"NCI: Fanconi anemia caused by mutations of the BRCA2 gene. | MONDO: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML."
+BMGC_DS10374,BMG_DS038333,"SNOMEDCT_US: A rare genetic neurological disorder characterised by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalised tonic-clonic) and on occasion headache are also associated. | MONDO: A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated."
+BMGC_DS10375,BMG_DS038334,"SNOMEDCT_US: A rare distal hereditary motor neuropathy with a variable clinical phenotype and typical characteristics of congenital, non-progressive, predominantly distal lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. | MONDO: Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated."
+BMGC_DS10376,BMG_DS038335,
+BMGC_DS10377,BMG_DS038336,
+BMGC_DS10378,BMG_DS038337,
+BMGC_DS10379,BMG_DS038338,"NCI: An inherited condition caused by autosomal dominant mutation(s) in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by an increased risk of developing melanoma and/or pancreatic carcinoma."
+BMGC_DS10380,BMG_DS038340,MONDO: An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene.
+BMGC_DS10381,BMG_DS038341,
+BMGC_DS10382,BMG_DS038342,MONDO: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.
+BMGC_DS10383,BMG_DS038343,"MONDO: Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
+BMGC_DS10384,BMG_DS038344,"ORPHANET: CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. | MONDO: CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia."
+BMGC_DS10385,BMG_DS038345,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.
+BMGC_DS10386,BMG_DS038346,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.
+BMGC_DS10387,BMG_DS038347,
+BMGC_DS10388,BMG_DS038351,MONDO: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.
+BMGC_DS10389,BMG_DS038352,MONDO: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene.
+BMGC_DS10390,BMG_DS038353,"SNOMEDCT_US: A severe form of developmental verbal apraxia with characteristics of a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters and comprehension delay. Hearing and intelligence are normal. Inheritance is autosomal dominant with full penetrance. | MONDO: Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal."
+BMGC_DS10391,BMG_DS038354,
+BMGC_DS10392,BMG_DS038355,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.
+BMGC_DS10393,BMG_DS038356,"NCI: Split-hand/foot malformation mapped to chromosome 10q24. | MONDO: The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate."
+BMGC_DS10394,BMG_DS038357,
+BMGC_DS10395,BMG_DS038358,"MONDO: Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested."
+BMGC_DS10396,BMG_DS038359,
+BMGC_DS10397,BMG_DS038360,
+BMGC_DS10398,BMG_DS038361,"NCI: An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. | MONDO: An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets."
+BMGC_DS10399,BMG_DS038362,MONDO: A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome).
+BMGC_DS10400,BMG_DS038363,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.
+BMGC_DS10401,BMG_DS038364,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.
+BMGC_DS10402,BMG_DS038365,"ORPHANET: Exstrophy-Epispadias Complex (EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form (see these terms). Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. | MONDO: An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia."
+BMGC_DS10403,BMG_DS038366,"SNOMEDCT_US: A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this syndrome. Transmission is autosomal recessive. | MONDO: Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family."
+BMGC_DS10404,BMG_DS038368,
+BMGC_DS10405,BMG_DS038369,
+BMGC_DS10406,BMG_DS038370,
+BMGC_DS10407,BMG_DS038372,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which result in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. | MONDO: Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures."
+BMGC_DS10408,BMG_DS038373,"HPO: Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. [https://orcid.org/0000-0002-0736-9199] | MONDO: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner."
+BMGC_DS10409,BMG_DS038376,
+BMGC_DS10410,BMG_DS038377,
+BMGC_DS10411,BMG_DS038378,"ORPHANET: Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms). | MONDO: A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene."
+BMGC_DS10412,BMG_DS038379,
+BMGC_DS10413,BMG_DS038380,
+BMGC_DS10414,BMG_DS038384,
+BMGC_DS10415,BMG_DS038385,
+BMGC_DS10416,BMG_DS038386,
+BMGC_DS10417,BMG_DS038388,
+BMGC_DS10418,BMG_DS038389,"NCI: A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y. It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis."
+BMGC_DS10419,BMG_DS038394,MONDO: Y-linked form of retinitis pigmentosa.
+BMGC_DS10420,BMG_DS038396,
+BMGC_DS10421,BMG_DS038399,
+BMGC_DS10422,BMG_DS038400,
+BMGC_DS10423,BMG_DS038401,
+BMGC_DS10424,BMG_DS038403,"MONDO: A syndrome characterized by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out."
+BMGC_DS10425,BMG_DS038404,"MONDO: Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies."
+BMGC_DS10426,BMG_DS038405,"NCI: An X-linked recessive inherited movement disorder caused by mutations in and near the TAF1 gene. It is found only in people of Filipino descent. It is characterized by parkinsonism and later in life the development of involuntary, sustained muscle contractions. | MONDO: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course."
+BMGC_DS10427,BMG_DS038406,
+BMGC_DS10428,BMG_DS038407,"SNOMEDCT_US: A form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. Prevalence of this form is not known. The disorder is not associated with mutations in the HBB gene (11p15.5), but with mutations in the gene encoding GATA-binding protein-1 (GATA1; Xp11.23) that result in reduced expression of the beta-globin genes. Transmission is X-linked. | MONDO: Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia."
+BMGC_DS10429,BMG_DS038408,
+BMGC_DS10430,BMG_DS038409,"NCI: An X-linked recessive bleeding disorder caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein, resulting in thrombocytopenia."
+BMGC_DS10431,BMG_DS038412,
+BMGC_DS10432,BMG_DS038414,MONDO: A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.
+BMGC_DS10433,BMG_DS038415,"MONDO: Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. | MeSH: An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR."
+BMGC_DS10434,BMG_DS038416,
+BMGC_DS10435,BMG_DS038417,"SNOMEDCT_US: An X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated spastic paraplegia. Spastic paraplegia type 2 is due to missense substitutions affecting the PLP1 gene. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). Transmission is X-linked recessive. | MONDO: Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG."
+BMGC_DS10436,BMG_DS038419,"MONDO: X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked."
+BMGC_DS10437,BMG_DS038420,"SNOMEDCT_US: Syndrome with the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. | MONDO: A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive."
+BMGC_DS10438,BMG_DS038422,MONDO: A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.
+BMGC_DS10439,BMG_DS038423,
+BMGC_DS10440,BMG_DS038424,"MONDO: Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993."
+BMGC_DS10441,BMG_DS038425,"ORPHANET: A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. | MONDO: Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction."
+BMGC_DS10442,BMG_DS038426,HPO: A chronic form of lactic acidemia. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS10443,BMG_DS038427,MONDO: X-linked form of lethal multiple pterygium syndrome.
+BMGC_DS10444,BMG_DS038428,"MONDO: A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease."
+BMGC_DS10445,BMG_DS038429,
+BMGC_DS10446,BMG_DS038430,
+BMGC_DS10447,BMG_DS038431,"SNOMEDCT_US: A rare developmental defect during embryogenesis syndrome with characteristics of Robin sequence (micrognathia, glossoptosis, cleft palate), atrial septal defect, persistence of the left superior vena cava and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. There is evidence this syndrome is caused by mutation in the RBM10 gene on chromosome Xp11.23. | MONDO: A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months."
+BMGC_DS10448,BMG_DS038434,
+BMGC_DS10449,BMG_DS038435,
+BMGC_DS10450,BMG_DS038436,"SNOMEDCT_US: A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infancy to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral profound prelingual sensorineural hearing loss and progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. | MONDO: X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype."
+BMGC_DS10451,BMG_DS038437,"SNOMEDCT_US: A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. | MONDO: A rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected."
+BMGC_DS10452,BMG_DS038438,
+BMGC_DS10453,BMG_DS038440,
+BMGC_DS10454,BMG_DS038441,MONDO: Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.
+BMGC_DS10455,BMG_DS038443,MONDO: A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life.
+BMGC_DS10456,BMG_DS038445,
+BMGC_DS10457,BMG_DS038446,SNOMEDCT_US: This myopathy is a childhood-onset X-linked myopathy with characteristics of slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease. | MONDO: X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.
+BMGC_DS10458,BMG_DS038447,
+BMGC_DS10459,BMG_DS038450,
+BMGC_DS10460,BMG_DS038451,
+BMGC_DS10461,BMG_DS038454,"ORPHANET: A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers. | MONDO: Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers."
+BMGC_DS10462,BMG_DS038455,"SNOMEDCT_US: This syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. | MONDO: Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked."
+BMGC_DS10463,BMG_DS038456,"MONDO: This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth."
+BMGC_DS10464,BMG_DS038457,
+BMGC_DS10465,BMG_DS038458,"MONDO: A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature."
+BMGC_DS10466,BMG_DS038459,"NCI: An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age. | MONDO: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia."
+BMGC_DS10467,BMG_DS038460,"MONDO: X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome."
+BMGC_DS10468,BMG_DS038461,"HPO: A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. [https://orcid.org/0000-0002-0736-9199, PMID:15210614, PMID:24282766]"
+BMGC_DS10469,BMG_DS038462,
+BMGC_DS10470,BMG_DS038463,
+BMGC_DS10471,BMG_DS038464,MONDO: Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.
+BMGC_DS10472,BMG_DS038465,
+BMGC_DS10473,BMG_DS038466,
+BMGC_DS10474,BMG_DS038467,
+BMGC_DS10475,BMG_DS038468,"MONDO: A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females."
+BMGC_DS10476,BMG_DS038470,
+BMGC_DS10477,BMG_DS038471,"ORPHANET: A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed. | MONDO: X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum."
+BMGC_DS10478,BMG_DS038472,"MONDO: A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present."
+BMGC_DS10479,BMG_DS038473,
+BMGC_DS10480,BMG_DS038474,
+BMGC_DS10481,BMG_DS038475,
+BMGC_DS10482,BMG_DS038477,HPO: The presence of multiple impacted teeth. [https://orcid.org/0000-0002-9338-3017]
+BMGC_DS10483,BMG_DS038479,
+BMGC_DS10484,BMG_DS038480,"ORPHANET: Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth."
+BMGC_DS10485,BMG_DS038483,"SNOMEDCT_US: A very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. Less than 50 patients have been reported worldwide. The main clinical features include patellar aplasia or hypoplasia, associated with absent, delayed or irregular ossification of the ischiopubic junctions and/or the infra-acetabular axe-cut notches. Additional features found in the majority of reported patients include femur and foot anomalies. Craniofacial anomalies have been reported occasionally. Inherited in an autosomal dominant manner and is caused by mutations in the human TBX4 gene (chromosome 17q22). TBX4 mutations account for familial cases with a distinctive facial appearance and those without facial features. | MONDO: Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis."
+BMGC_DS10486,BMG_DS038484,
+BMGC_DS10487,BMG_DS038485,
+BMGC_DS10488,BMG_DS038487,
+BMGC_DS10489,BMG_DS038490,
+BMGC_DS10490,BMG_DS038492,HPO: A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. [PMID:19125428] | MONDO: A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.
+BMGC_DS10491,BMG_DS038494,"MONDO: Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue."
+BMGC_DS10492,BMG_DS038495,
+BMGC_DS10493,BMG_DS038497,
+BMGC_DS10494,BMG_DS038498,"SNOMEDCT_US: This syndrome has features of ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. | MONDO: Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant."
+BMGC_DS10495,BMG_DS038499,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.
+BMGC_DS10496,BMG_DS038500,"SNOMEDCT_US: A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported. | MONDO: Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)."
+BMGC_DS10497,BMG_DS038502,"SNOMEDCT_US: Hypotrichosis simplex of the scalp (HSS) has manifestation of diffuse progressive hair loss that is confined to the scalp. Prevalence is unknown but HSS has been described in multiple members (males and females) of several large families. Progressive hair loss generally begins during the first decade of life and most patients are completely bald by the third decade of life. Body, axillary and facial hair, as well as the eyebrows and eyelashes are unaffected. There are no anomalies of the skin, nails and teeth. The causative gene CDSN (encoding the keratinocyte adhesion molecule, corneodesmosin) has been mapped to chromosome 6p21.3. Transmitted in an autosomal dominant manner. | MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene."
+BMGC_DS10498,BMG_DS038503,
+BMGC_DS10499,BMG_DS038504,"SNOMEDCT_US: Tooth specific inherited disorder of mineral metabolism caused by gene mutation, encoding tissue non-specific alkaline phosphatase (TNAP). | MONDO: Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities."
+BMGC_DS10500,BMG_DS038505,"NCI: A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys. | MONDO: The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease."
+BMGC_DS10501,BMG_DS038507,"MONDO: Mullerian duct anomalies-limb anomalies syndrome is characterized by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant."
+BMGC_DS10502,BMG_DS038508,MONDO: A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
+BMGC_DS10503,BMG_DS038510,
+BMGC_DS10504,BMG_DS038511,"ORPHANET: Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. | MONDO: Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth."
+BMGC_DS10505,BMG_DS038512,"ORPHANET: A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. | MONDO: Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema."
+BMGC_DS10506,BMG_DS038513,"SNOMEDCT_US: A rare genetic non-dystrophic myopathy with characteristics of the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and myopathic facies (with or without creatine kinase elevations), skeletal abnormalities (short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. | MONDO: A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use."
+BMGC_DS10507,BMG_DS038514,
+BMGC_DS10508,BMG_DS038515,
+BMGC_DS10509,BMG_DS038516,MONDO: An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.
+BMGC_DS10510,BMG_DS038519,"SNOMEDCT_US: An autosomal dominant disease characterized by increased serum potassium levels, hypertension, short stature, increased urinary calcium excretion and hyperchloremic metabolic acidosis."
+BMGC_DS10511,BMG_DS038520,MONDO: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.
+BMGC_DS10512,BMG_DS038521,MONDO: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.
+BMGC_DS10513,BMG_DS038522,"SNOMEDCT_US: Patches of hyperpigmentation in the skin, which are present at birth or in early infancy and increase in size and number with age. A rare autosomal dominant disorder."
+BMGC_DS10514,BMG_DS038523,
+BMGC_DS10515,BMG_DS038525,
+BMGC_DS10516,BMG_DS038527,HPO: Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS10517,BMG_DS038528,
+BMGC_DS10518,BMG_DS038529,
+BMGC_DS10519,BMG_DS038532,"ORPHANET: A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations."
+BMGC_DS10520,BMG_DS038533,
+BMGC_DS10521,BMG_DS038534,"ORPHANET: A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. | MONDO: Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional."
+BMGC_DS10522,BMG_DS038535,"HPO: A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. [PMID:8152765] | MONDO: Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment."
+BMGC_DS10523,BMG_DS038536,"HPO: A type of Horner syndrome with congenital onset. [https://orcid.org/0000-0002-0736-9199] | MONDO: Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported."
+BMGC_DS10524,BMG_DS038537,"NCI: A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. | MONDO: A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis."
+BMGC_DS10525,BMG_DS038538,MONDO: Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene.
+BMGC_DS10526,BMG_DS038540,MONDO: An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.
+BMGC_DS10527,BMG_DS038541,"SNOMEDCT_US: A primary bone dysplasia with characteristics of premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis and joint space narrowing. | MONDO: Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing."
+BMGC_DS10528,BMG_DS038542,"MONDO: Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis."
+BMGC_DS10529,BMG_DS038543,
+BMGC_DS10530,BMG_DS038544,
+BMGC_DS10531,BMG_DS038545,
+BMGC_DS10532,BMG_DS038548,
+BMGC_DS10533,BMG_DS038552,"ORPHANET: A rare primary myoclonus characterized by progressive, involuntary, irregular, clonic or tonic contractions of the muscles innervated by the facial nerve (cranial nerve VII). The symptoms are typically strictly unilateral, mostly persist during sleep, and often occur in the region of the orbicularis oculi muscle first and gradually spread to other parts of the affected half of the face as the disease progresses. Both familial and acquired forms are reported."
+BMGC_DS10534,BMG_DS038553,"SNOMEDCT_US: A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. | MONDO: Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979."
+BMGC_DS10535,BMG_DS038554,"ORPHANET: A rare inborn error of metabolism characterized by congenital asplenia and childhood or adolescent onset of generalized inflammation, persistent intravascular hemolysis and anemia, severe endothelial injury with abnormal coagulation, bleeding diathesis, and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism, and hepatomegaly."
+BMGC_DS10536,BMG_DS038555,MONDO: A hemangioma that involves the small intestine.
+BMGC_DS10537,BMG_DS038556,"SNOMEDCT_US: A very rare type of heart-hand syndrome described in three members of a Spanish family to date. The syndrome has characteristics of cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. | MONDO: Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle."
+BMGC_DS10538,BMG_DS038557,
+BMGC_DS10539,BMG_DS038559,ORPHANET: Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. | MONDO: Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
+BMGC_DS10540,BMG_DS038563,
+BMGC_DS10541,BMG_DS038564,
+BMGC_DS10542,BMG_DS038566,MONDO: Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.
+BMGC_DS10543,BMG_DS038567,
+BMGC_DS10544,BMG_DS038571,"SNOMEDCT_US: A rare osteogenesis imperfecta-like disorder, described in two patients to date, with clinical characteristics of persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. | MONDO: Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986."
+BMGC_DS10545,BMG_DS038578,"NCI: An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare."
+BMGC_DS10546,BMG_DS038579,
+BMGC_DS10547,BMG_DS038580,"SNOMEDCT_US: Hereditary vascular malformations featuring the presence of small, multifocal bluish-purple venous lesions involving the skin. May be present at birth, and slowly expand during childhood. New small lesions appear with time. Often painful on palpation and cannot be completely emptied by compression. They are usually multifocal and are located mainly on the extremities, involving the skin and subcutis. Caused by mutations in the gene encoding glomulin and inherited in an autosomal dominant manner. | MONDO: Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin."
+BMGC_DS10548,BMG_DS038583,
+BMGC_DS10549,BMG_DS038584,MONDO: Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).
+BMGC_DS10550,BMG_DS038585,
+BMGC_DS10551,BMG_DS038586,MONDO: Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.
+BMGC_DS10552,BMG_DS038588,MONDO: Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene.
+BMGC_DS10553,BMG_DS038589,
+BMGC_DS10554,BMG_DS038590,"NCI: A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors. | MONDO: A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation."
+BMGC_DS10555,BMG_DS038591,
+BMGC_DS10556,BMG_DS038596,"SNOMEDCT_US: A form of limb girdle muscular dystrophy with characteristics of muscle weakness affecting the pelvic girdle and especially the iliopsoas muscle. Respiratory impairment may be observed in advanced stages. | MONDO: Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed."
+BMGC_DS10557,BMG_DS038597,"HPO: Difficulty in seeing moving objects. [PMID:25770143] | MONDO: Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia."
+BMGC_DS10558,BMG_DS038599,"MONDO: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene."
+BMGC_DS10559,BMG_DS038600,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.
+BMGC_DS10560,BMG_DS038601,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.
+BMGC_DS10561,BMG_DS038604,MONDO: Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.
+BMGC_DS10562,BMG_DS038605,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.
+BMGC_DS10563,BMG_DS038606,MONDO: An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.
+BMGC_DS10564,BMG_DS038607,
+BMGC_DS10565,BMG_DS038608,"SNOMEDCT_US: Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait. | MONDO: Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy."
+BMGC_DS10566,BMG_DS038609,"ORPHANET: A rare congenital myopathy characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers."
+BMGC_DS10567,BMG_DS038610,"NCI: An autosomal dominant inherited vascular disorder associated with loss of function mutations in the RASA1 or EPHB4 gene, encoding Ras GTPase-activating protein 1 or ephrin type-B receptor 4, respectively. It is characterized by cutaneous capillary malformations, often in association with arteriovenous malformations and arteriovenous fistulas, which may lead to abnormal bleeding, migraine headaches, seizures, and heart failure. | MONDO: This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas."
+BMGC_DS10568,BMG_DS038611,
+BMGC_DS10569,BMG_DS038612,"MONDO: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology."
+BMGC_DS10570,BMG_DS038613,"SNOMEDCT_US: A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. | MONDO: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs."
+BMGC_DS10571,BMG_DS038614,MONDO: Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.
+BMGC_DS10572,BMG_DS038621,"NCI: An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor. It is characterized by profound deafness. | MONDO: An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness."
+BMGC_DS10573,BMG_DS038622,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.
+BMGC_DS10574,BMG_DS038623,
+BMGC_DS10575,BMG_DS038624,
+BMGC_DS10576,BMG_DS038625,"SNOMEDCT_US: A hereditary demyelinating motor and sensory neuropathy with characteristics of slowed nerve conduction velocities in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. | MONDO: Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene."
+BMGC_DS10577,BMG_DS038626,"NCI: An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the AP3B1 gene, encoding AP-3 complex subunit beta-1. Immunodeficiency due to neutropenia is a characteristic of this sub-type. | MONDO: A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."
+BMGC_DS10578,BMG_DS038627,"MONDO: Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported."
+BMGC_DS10579,BMG_DS038628,"NCI: An autosomal dominant condition caused by mutation(s) in the P2RX2 gene, encoding P2X purinoceptor 2. It is characterized by progressive sensorineural hearing loss, usually in the second decade of life. | MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene."
+BMGC_DS10580,BMG_DS038630,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.
+BMGC_DS10581,BMG_DS038631,
+BMGC_DS10582,BMG_DS038632,"SNOMEDCT_US: A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. The disease is due to a point dominant negative mutation in the RAC2 gene causing decreased Rac2 protein expression and a defect in a signaling pathway controlling shape change/motility of neutrophils as well as assembly and activation of NADPH oxidase. The mode of transmission is unknown. | MONDO: A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas."
+BMGC_DS10583,BMG_DS038633,"ORPHANET: A rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. | MONDO: Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis."
+BMGC_DS10584,BMG_DS038634,MONDO: A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.
+BMGC_DS10585,BMG_DS038635,MONDO: Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.
+BMGC_DS10586,BMG_DS038637,
+BMGC_DS10587,BMG_DS038640,"SNOMEDCT_US: A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24."
+BMGC_DS10588,BMG_DS038642,"SNOMEDCT_US: A rare microdeletion syndrome associated with a distinct facial appearance. It has been reported in four unrelated patients. A mask-like facial appearance is the most characteristic feature with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern. Camptodactyly, joint contractures, unusual dentition and mild developmental delay can be observed. Cryptorchidism in boys and a happy disposition are constant. | MONDO: The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance."
+BMGC_DS10589,BMG_DS038643,"MONDO: Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested."
+BMGC_DS10590,BMG_DS038645,"MONDO: A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported."
+BMGC_DS10591,BMG_DS038646,
+BMGC_DS10592,BMG_DS038647,"ORPHANET: A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. | MONDO: A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands."
+BMGC_DS10593,BMG_DS038648,"SNOMEDCT_US: A form of paroxysmal dyskinesia with characteristics of painless attacks of dystonia of the extremities triggered by prolonged physical activities. The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. The attacks last between 5 minutes and 2 hours and are typically restricted to the exercised limbs. The dystonic movements are usually bilateral and are aggravated by cold, psychological stress, fatigue and lack of sleep. The pathophysiology is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 gene (1p34.2). Sporadic and familial cases with autosomal dominant mode of inheritance have been reported. | MONDO: A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities."
+BMGC_DS10594,BMG_DS038649,HPO: Muscular atrophy affecting the muscles of the limb girdle. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS10595,BMG_DS038651,
+BMGC_DS10596,BMG_DS038653,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
+BMGC_DS10597,BMG_DS038654,"SNOMEDCT_US: Characterised by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastrooesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastrooesophageal reflux, and cough triggered by noxious odours or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. | MONDO: Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR)."
+BMGC_DS10598,BMG_DS038655,MONDO: A schizophrenia that has material basis in a mutation on chromosome 10q22.3.
+BMGC_DS10599,BMG_DS038657,
+BMGC_DS10600,BMG_DS038662,"SNOMEDCT_US: A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy."
+BMGC_DS10601,BMG_DS038664,"SNOMEDCT_US: A rare form of PCH with clinical manifestation neonatally of hypotonia and impaired swallowing and from infancy onward seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. To date, PCH3 is reported in only 3 families. In 2 families, an implication of locus 7q11-21 has been demonstrated. PCH3 is inherited in an autosomal recessive manner. | MONDO: Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3."
+BMGC_DS10602,BMG_DS038665,"SNOMEDCT_US: Diaphanospondylodysostosis has characteristics of absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests and cleft palate. As some patients were born to consanguineous parents, this disorder is likely to be transmitted as an autosomal recessive trait. The patients are stillborn or die soon after birth of respiratory insufficiency. | MONDO: Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate."
+BMGC_DS10603,BMG_DS038666,ORPHANET: Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term). | MONDO: Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).
+BMGC_DS10604,BMG_DS038671,
+BMGC_DS10605,BMG_DS038672,MONDO: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.
+BMGC_DS10606,BMG_DS038673,
+BMGC_DS10607,BMG_DS038674,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.
+BMGC_DS10608,BMG_DS038675,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. | MONDO: A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive."
+BMGC_DS10609,BMG_DS038676,MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.
+BMGC_DS10610,BMG_DS038677,"MONDO: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene."
+BMGC_DS10611,BMG_DS038678,"NCI: A rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance (microcephaly, deep set eyes, flat nose, and pointed chin), developmental abnormalities, mental retardation, seizures, hypotonia, hearing loss, and heart defects. | MONDO: A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency."
+BMGC_DS10612,BMG_DS038679,MONDO: Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.
+BMGC_DS10613,BMG_DS038681,
+BMGC_DS10614,BMG_DS038682,"SNOMEDCT_US: A rare genetic macular dystrophy with characteristics of blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated yellow egg yolk-like lesion located in the foveal or parafoveal region. Clinical onset is typically between the fourth and sixth decade of life. The mechanism underlying the physiopathology is unknown. An autosomal dominant inheritance with variable expression and incomplete penetrance is suggested but the disease can also be sporadic without evidence of a familial inheritance pattern. | MONDO: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. | MeSH: Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel."
+BMGC_DS10615,BMG_DS038684,
+BMGC_DS10616,BMG_DS038685,
+BMGC_DS10617,BMG_DS038686,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.
+BMGC_DS10618,BMG_DS038687,MONDO: Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.
+BMGC_DS10619,BMG_DS038688,MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene.
+BMGC_DS10620,BMG_DS038689,"SNOMEDCT_US: A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. | MONDO: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy."
+BMGC_DS10621,BMG_DS038690,"SNOMEDCT_US: A rare form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with characteristics of a mild phenotype, onset during the second decade of life and very slow progression. Walking ability is retained. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy."
+BMGC_DS10622,BMG_DS038691,
+BMGC_DS10623,BMG_DS038692,
+BMGC_DS10624,BMG_DS038693,NCI: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. | MONDO: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.
+BMGC_DS10625,BMG_DS038694,
+BMGC_DS10626,BMG_DS038695,
+BMGC_DS10627,BMG_DS038696,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.
+BMGC_DS10628,BMG_DS038697,"SNOMEDCT_US: Syndrome that is characterised by the specific association of large and late-closing fontanelles, hypertelorism, early-onset cataract and mild generalised skeletal dysplasia. Patients have abnormal hair, frontal bossing, hyperpigmentation with capillary haemangioma of the forehead, macrocephaly, significant hypertelorism, and a broad and prominent nose. In addition patients have Y-shaped sutural cataracts. All affected individuals have proportionate short stature but intellectual development is normal. The syndrome maps to chromosome 14q13-q21 and causative mutations have been identified in the SEC23A gene. | MONDO: Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia."
+BMGC_DS10629,BMG_DS038698,"SNOMEDCT_US: A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. | MONDO: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor."
+BMGC_DS10630,BMG_DS038699,"SNOMEDCT_US: A skeletal dysplasia with clinical characteristics of short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Affected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur and to a variable degree, at the shoulders, knees, and ankles. Homozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients. The condition is transmitted as an autosomal recessive trait. | MONDO: Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax."
+BMGC_DS10631,BMG_DS038700,"SNOMEDCT_US: The most common anomaly of bile acid synthesis with characteristics of variable manifestations of progressive cholestatic liver disease and fat malabsorption. The clinical presentation is heterogeneous, however most patients present with features of neonatal cholestasis. The disease is caused by a mutation in the gene encoding 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase (HSD3B7, 16p12-p11.2). Transmission is autosomal recessive. | MONDO: Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption."
+BMGC_DS10632,BMG_DS038701,"SNOMEDCT_US: A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42."
+BMGC_DS10633,BMG_DS038702,MONDO: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.
+BMGC_DS10634,BMG_DS038704,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Relatively late onset papillary abnormalities and deafness in most patients associated with distal weakness and muscle atrophy. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy."
+BMGC_DS10635,BMG_DS038705,"SNOMEDCT_US: A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2). | MONDO: A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).."
+BMGC_DS10636,BMG_DS038706,"SNOMEDCT_US: An axonal peripheral sensorimotor polyneuropathy associated with pyramidal involvement. So far, it has been described in 13 members of a large Tunisian family. Onset occurred during the first decade of life with progressive distal atrophy involving both the upper and lower limbs, associated with a mild pyramidal syndrome (brisk patellar and upper limb reflexes, absent ankle reflexes and unattainable plantar reflexes). Transmitted in an autosomal recessive manner and the disease-causing locus has been mapped to 8q13-21.1. | MONDO: Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement."
+BMGC_DS10637,BMG_DS038708,"SNOMEDCT_US: A Noonan-related syndrome with characteristics of facial anomalies suggestive of Noonan syndrome, a distinctive hair anomaly described as loose anagen hair syndrome, frequent congenital heart defects, distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichthyosis and short stature, often associated with a growth hormone deficiency and psychomotor delay. There is evidence that this syndrome is caused by heterozygous mutation in the SHOC2 gene on chromosome 10q25. | MONDO: Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays."
+BMGC_DS10638,BMG_DS038709,
+BMGC_DS10639,BMG_DS038710,
+BMGC_DS10640,BMG_DS038711,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor."
+BMGC_DS10641,BMG_DS038714,"SNOMEDCT_US: A form of Charcot-Marie-Tooth disease type 1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood). Usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. | MONDO: A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis."
+BMGC_DS10642,BMG_DS038715,ORPHANET: Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria. | MONDO: An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.
+BMGC_DS10643,BMG_DS038716,
+BMGC_DS10644,BMG_DS038717,"SNOMEDCT_US: DYT13 type primary dystonia has characteristics of focal or segmental dystonia with cranial, cervical, or upper limb involvement. It has been reported in individuals from three generations of one large Italian family. Age of onset varied between 5 years and adulthood. The clinical manifestations were generally mild and slowly progressive. The causative gene locus has been identified on chromosome 1p36.13-1p36.32. Transmitted in an autosomal dominant manner. | MONDO: DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement."
+BMGC_DS10645,BMG_DS038724,
+BMGC_DS10646,BMG_DS038725,
+BMGC_DS10647,BMG_DS038726,"MONDO: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene."
+BMGC_DS10648,BMG_DS038727,
+BMGC_DS10649,BMG_DS038728,ORPHANET: A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. | MONDO: Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
+BMGC_DS10650,BMG_DS038729,"SNOMEDCT_US: A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance. | MONDO: Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis."
+BMGC_DS10651,BMG_DS038730,"NCI: Type C Niemann-Pick disease associated with a mutation in the gene NPC2, encoding Niemann-Pick C2 protein. | MONDO: Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person."
+BMGC_DS10652,BMG_DS038733,"SNOMEDCT_US: A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant. | MONDO: Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities."
+BMGC_DS10653,BMG_DS038735,"SNOMEDCT_US: Autosomal recessive disorder originally described in Finnish families. Diagnostic criteria are early fetal hydrops and akinesia, specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. The Israeli-Bedouin pedigree is characterized by congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder is markedly distended urinary bladder. | MONDO: Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported."
+BMGC_DS10654,BMG_DS038738,MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.
+BMGC_DS10655,BMG_DS038742,"SNOMEDCT_US: A very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. | MONDO: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14."
+BMGC_DS10656,BMG_DS038743,
+BMGC_DS10657,BMG_DS038744,
+BMGC_DS10658,BMG_DS038745,
+BMGC_DS10659,BMG_DS038749,
+BMGC_DS10660,BMG_DS038750,MONDO: Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.
+BMGC_DS10661,BMG_DS038751,
+BMGC_DS10662,BMG_DS038753,
+BMGC_DS10663,BMG_DS038755,MONDO: An inherited susceptibility or predisposition to developing migraines without aura.
+BMGC_DS10664,BMG_DS038756,
+BMGC_DS10665,BMG_DS038757,
+BMGC_DS10666,BMG_DS038758,MONDO: A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.
+BMGC_DS10667,BMG_DS038759,"MONDO: A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31."
+BMGC_DS10668,BMG_DS038760,"ORPHANET: A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine."
+BMGC_DS10669,BMG_DS038761,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
+BMGC_DS10670,BMG_DS038762,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.
+BMGC_DS10671,BMG_DS038763,"SNOMEDCT_US: Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration. | MONDO: A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted."
+BMGC_DS10672,BMG_DS038764,MONDO: Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.
+BMGC_DS10673,BMG_DS038765,"SNOMEDCT_US: This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. | MONDO: A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions."
+BMGC_DS10674,BMG_DS038766,"ORPHANET: A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate. | MONDO: A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate."
+BMGC_DS10675,BMG_DS038767,"SNOMEDCT_US: Disease with characteristics of sensory neuropathy and cerebellar ataxia. Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Onset is in the second and third decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified. | MONDO: Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia."
+BMGC_DS10676,BMG_DS038768,
+BMGC_DS10677,BMG_DS038769,"SNOMEDCT_US: A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of slowly progressive cerebellar ataxia, mild cognitive impairment, postural and or resting tremor, bradykinesia, and rigidity. Prevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date. Maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified. | MONDO: Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity."
+BMGC_DS10678,BMG_DS038770,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.
+BMGC_DS10679,BMG_DS038771,MONDO: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.
+BMGC_DS10680,BMG_DS038772,"NCI: A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. | MONDO: A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency."
+BMGC_DS10681,BMG_DS038773,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.
+BMGC_DS10682,BMG_DS038774,
+BMGC_DS10683,BMG_DS038775,"MONDO: This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus."
+BMGC_DS10684,BMG_DS038778,
+BMGC_DS10685,BMG_DS038779,"MONDO: An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested."
+BMGC_DS10686,BMG_DS038780,MONDO: Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
+BMGC_DS10687,BMG_DS038781,
+BMGC_DS10688,BMG_DS038782,"MONDO: X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia."
+BMGC_DS10689,BMG_DS038783,
+BMGC_DS10690,BMG_DS038784,
+BMGC_DS10691,BMG_DS038787,"NCI: An X-linked recessive form of chronic granulomatous disease caused by mutation(s) in the CYBB gene, encoding cytochrome b-245 beta chain. | MeSH: A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern."
+BMGC_DS10692,BMG_DS038789,
+BMGC_DS10693,BMG_DS038792,
+BMGC_DS10694,BMG_DS038793,"ORPHANET: Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission. | MONDO: Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission."
+BMGC_DS10695,BMG_DS038795,MONDO: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene.
+BMGC_DS10696,BMG_DS038798,MONDO: X-linked form of Dyggve-Melchior-Clausen disease.
+BMGC_DS10697,BMG_DS038799,"SNOMEDCT_US: An exceedingly rare, benign, congenital, corneal tumour characterised by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. | MONDO: X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission."
+BMGC_DS10698,BMG_DS038801,
+BMGC_DS10699,BMG_DS038802,"MONDO: X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss."
+BMGC_DS10700,BMG_DS038804,"MONDO: A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival."
+BMGC_DS10701,BMG_DS038806,
+BMGC_DS10702,BMG_DS038807,
+BMGC_DS10703,BMG_DS038808,"MONDO: X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported."
+BMGC_DS10704,BMG_DS038809,
+BMGC_DS10705,BMG_DS038810,"SNOMEDCT_US: An X-linked retinal dystrophy, characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state."
+BMGC_DS10706,BMG_DS038811,"SNOMEDCT_US: A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked."
+BMGC_DS10707,BMG_DS038812,"SNOMEDCT_US: A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring. | MONDO: Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis."
+BMGC_DS10708,BMG_DS038814,
+BMGC_DS10709,BMG_DS038815,"SNOMEDCT_US: A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the childhood to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. | MONDO: X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported."
+BMGC_DS10710,BMG_DS038816,"SNOMEDCT_US: A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. | MONDO: X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals."
+BMGC_DS10711,BMG_DS038817,
+BMGC_DS10712,BMG_DS038818,
+BMGC_DS10713,BMG_DS038819,
+BMGC_DS10714,BMG_DS038820,"SNOMEDCT_US: A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counseling is recommended. | MONDO: Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis."
+BMGC_DS10715,BMG_DS038823,"SNOMEDCT_US: An extremely rare multiple congenital abnormality syndrome that has characteristics of microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. | MONDO: X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum."
+BMGC_DS10716,BMG_DS038826,"SNOMEDCT_US: A rare form of spinal muscular atrophy with characteristics of the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Patients have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. | MONDO: A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure."
+BMGC_DS10717,BMG_DS038829,"SNOMEDCT_US: This syndrome has characteristics of microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. It is transmitted as an X-linked recessive trait and the causative gene is localised to the Xq27-q28 region."
+BMGC_DS10718,BMG_DS038830,
+BMGC_DS10719,BMG_DS038832,"SNOMEDCT_US: A rare syndromic inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non or slowly progressive spinocerebellar ataxia. Caused by mutations in the ABCB7 gene (Xq13.3), encoding a mitochondrial ATP-binding cassette (ABC) transporter protein, which plays a role in heme production and iron homeostasis. A mutation in this gene alters the availability of reduced iron and therefore disrupts heme biosynthesis. The ABCB7 gene is highly expressed in both the bone marrow and the cerebellum, which may explain ataxia. Inherited in an X-linked recessive manner. | MONDO: A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia."
+BMGC_DS10720,BMG_DS038833,"SNOMEDCT_US: An extremely rare skin disease described in only four families to date and characterised in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localised brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. | MONDO: X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature."
+BMGC_DS10721,BMG_DS038834,MONDO: An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
+BMGC_DS10722,BMG_DS038835,
+BMGC_DS10723,BMG_DS038836,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.
+BMGC_DS10724,BMG_DS038837,"MONDO: X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal."
+BMGC_DS10725,BMG_DS038838,"SNOMEDCT_US: Syndrome with characteristics of congenital nerve deafness and piebaldness without ocular albinism. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. | MONDO: A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1."
+BMGC_DS10726,BMG_DS038839,"SNOMEDCT_US: A rare X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date with characteristics of severe visual impairment, translucent pale-blue irides, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome. | MONDO: Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome."
+BMGC_DS10727,BMG_DS038840,
+BMGC_DS10728,BMG_DS038841,
+BMGC_DS10729,BMG_DS038842,"NCI: An X-linked lymphoproliferative disorder caused by mutations in the XIAP gene. Clinical manifestations include hemophagocytic lymphohistiocytosis (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. Patients are at an increased risk of developing lymphoma, typically B-cell non-Hodgkin lymphoma. | MONDO: A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2."
+BMGC_DS10730,BMG_DS038843,
+BMGC_DS10731,BMG_DS038844,"NCI: An X-linked recessive condition caused by mutation (s) in the AIFM1 gene, encoding apoptosis-inducing factor 1, mitochondrial . It is characterized by auditory neuropathy, followed by peripheral neuropathy."
+BMGC_DS10732,BMG_DS038846,
+BMGC_DS10733,BMG_DS038847,MONDO: A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28.
+BMGC_DS10734,BMG_DS038848,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene.
+BMGC_DS10735,BMG_DS038849,
+BMGC_DS10736,BMG_DS038851,"MONDO: SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never."
+BMGC_DS10737,BMG_DS038852,
+BMGC_DS10738,BMG_DS038853,"MONDO: X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait."
+BMGC_DS10739,BMG_DS038854,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.
+BMGC_DS10740,BMG_DS038855,
+BMGC_DS10741,BMG_DS038856,"SNOMEDCT_US: A rare disease with characteristics of holoprosencephaly and ectrodactyly. Holoprosencephaly occurs during early fetal development with failure of the brain to divide into the left and right hemisphere. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have cyclopia and proboscis located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. Other manifestations include malfunctioning pituitary, seizures, feeding difficulties, developmental delay and problems regulating body temperature and sleep pattern. Some affected individuals have distinctive facial features, including hypertelorism, hypotelorism, cleft lip, cleft palate. Can be caused by mutations in the FGFR1 gene."
+BMGC_DS10742,BMG_DS038857,"SNOMEDCT_US: A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues. | MONDO: A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness."
+BMGC_DS10743,BMG_DS038859,"ORPHANET: A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized. | MONDO: Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features."
+BMGC_DS10744,BMG_DS038860,"MONDO: Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. | MeSH: An X-linked recessive disorder associated with mutations in CLCN5, CHLORIDE CHANNEL 5. | MeSH: A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported."
+BMGC_DS10745,BMG_DS038861,"SNOMEDCT_US: A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. | MONDO: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels."
+BMGC_DS10746,BMG_DS038863,
+BMGC_DS10747,BMG_DS038864,"SNOMEDCT_US: This syndrome has characteristics of severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopenia, microcephaly and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene is q1-21 region of the X chromosome. | MONDO: A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome."
+BMGC_DS10748,BMG_DS038865,
+BMGC_DS10749,BMG_DS038866,NCI: Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. | MONDO: Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
+BMGC_DS10750,BMG_DS038867,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene.
+BMGC_DS10751,BMG_DS038868,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.
+BMGC_DS10752,BMG_DS038869,
+BMGC_DS10753,BMG_DS038871,
+BMGC_DS10754,BMG_DS038872,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene.
+BMGC_DS10755,BMG_DS038873,
+BMGC_DS10756,BMG_DS038874,
+BMGC_DS10757,BMG_DS038875,"SNOMEDCT_US: A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. | MONDO: X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males."
+BMGC_DS10758,BMG_DS038876,"MONDO: X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities."
+BMGC_DS10759,BMG_DS038878,
+BMGC_DS10760,BMG_DS038879,"MONDO: A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature."
+BMGC_DS10761,BMG_DS038882,
+BMGC_DS10762,BMG_DS038883,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.
+BMGC_DS10763,BMG_DS038884,
+BMGC_DS10764,BMG_DS038885,
+BMGC_DS10765,BMG_DS038886,MONDO: A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).
+BMGC_DS10766,BMG_DS038887,
+BMGC_DS10767,BMG_DS038888,"SNOMEDCT_US: A rare X-linked intellectual disability syndrome characterised by onset in infancy of delayed motor and speech milestones, generalised tonic-clonic seizures and drop attacks and mild to moderate intellectual disability. Additional less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance) and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. | MONDO: X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported."
+BMGC_DS10768,BMG_DS038889,MONDO: Any FG syndrome in which the cause of the disease is a mutation in the CASK gene.
+BMGC_DS10769,BMG_DS038890,
+BMGC_DS10770,BMG_DS038894,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.
+BMGC_DS10771,BMG_DS038895,"HPO: A type of perisylvian polymicrogyria that affects both sides of the brain. [http://www.wikidata.org/entity/Q90573458, PMID:20301504]"
+BMGC_DS10772,BMG_DS038896,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.
+BMGC_DS10773,BMG_DS038899,"MONDO: X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia."
+BMGC_DS10774,BMG_DS038902,
+BMGC_DS10775,BMG_DS038903,"SNOMEDCT_US: This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. | MONDO: X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome."
+BMGC_DS10776,BMG_DS038904,"NCI: A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine into cells. It manifests with intellectual disability, seizures, short stature, and midface hypoplasia. | MONDO: X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures."
+BMGC_DS10777,BMG_DS038906,
+BMGC_DS10778,BMG_DS038907,
+BMGC_DS10779,BMG_DS038908,MONDO: Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene.
+BMGC_DS10780,BMG_DS038909,
+BMGC_DS10781,BMG_DS038911,"SNOMEDCT_US: This syndrome is an immunodeficiency syndrome with characteristics of recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. | MONDO: This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein."
+BMGC_DS10782,BMG_DS038912,"NCI: A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections."
+BMGC_DS10783,BMG_DS038913,"NCI: An X-linked recessive condition caused by mutation(s) in the IKBKG gene, encoding NF-kappa-B essential modulator (NEMO). It is characterized by the onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. Affected individuals may present with ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair."
+BMGC_DS10784,BMG_DS038914,"NCI: A condition caused by heterozygous mutation(s) in the CDKN1C gene, encoding cyclin-dependent kinase inhibitor 1C, and characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. | MONDO: IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait."
+BMGC_DS10785,BMG_DS038915,
+BMGC_DS10786,BMG_DS038917,
+BMGC_DS10787,BMG_DS038919,
+BMGC_DS10788,BMG_DS038921,"SNOMEDCT_US: A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. | MONDO: A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2."
+BMGC_DS10789,BMG_DS038922,
+BMGC_DS10790,BMG_DS038923,"MONDO: X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations."
+BMGC_DS10791,BMG_DS038924,"MONDO: X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28."
+BMGC_DS10792,BMG_DS038925,"NCI: An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. | MONDO: Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown."
+BMGC_DS10793,BMG_DS038926,"SNOMEDCT_US: A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly). Also associated are humeral immunodeficiency with inability to generate specific antibodies and low circulating B-cells, craniofacial dysmorphism that typically includes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip. There is evidence the disease is caused by compound heterozygous mutation in the RNU4ATAC gene on chromosome 2q14."
+BMGC_DS10794,BMG_DS038927,
+BMGC_DS10795,BMG_DS038928,"MONDO: A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis."
+BMGC_DS10796,BMG_DS038929,
+BMGC_DS10797,BMG_DS038930,"SNOMEDCT_US: A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia. | MONDO: Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia."
+BMGC_DS10798,BMG_DS038931,"MONDO: X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome."
+BMGC_DS10799,BMG_DS038933,"MONDO: A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive."
+BMGC_DS10800,BMG_DS038934,
+BMGC_DS10801,BMG_DS038936,"ORPHANET: X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. | MONDO: X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia."
+BMGC_DS10802,BMG_DS038937,"SNOMEDCT_US: This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23. | MONDO: Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers."
+BMGC_DS10803,BMG_DS038938,"SNOMEDCT_US: A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. | MONDO: X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit."
+BMGC_DS10804,BMG_DS038939,
+BMGC_DS10805,BMG_DS038940,
+BMGC_DS10806,BMG_DS038941,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.
+BMGC_DS10807,BMG_DS038942,"SNOMEDCT_US: An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. | MONDO: Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported."
+BMGC_DS10808,BMG_DS038944,"SNOMEDCT_US: This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1."
+BMGC_DS10809,BMG_DS038947,"ORPHANET: Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease."
+BMGC_DS10810,BMG_DS038948,
+BMGC_DS10811,BMG_DS038949,"SNOMEDCT_US: MEHMO syndrome has characteristics of severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of who died within the first two years of life. The causative gene has been located to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. | MONDO: MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction."
+BMGC_DS10812,BMG_DS038950,
+BMGC_DS10813,BMG_DS038952,
+BMGC_DS10814,BMG_DS038953,"ORPHANET: A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure. | MONDO: Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II."
+BMGC_DS10815,BMG_DS038954,
+BMGC_DS10816,BMG_DS038955,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
+BMGC_DS10817,BMG_DS038957,"SNOMEDCT_US: Disease with characteristics of mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date. SCA19 presents in the third decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years. Linkage to locus 1p21-q21 has been proposed but the gene mutation has not been identified. | MONDO: Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor."
+BMGC_DS10818,BMG_DS038958,"HPO: A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. [http://www.wikidata.org/entity/Q90573458, PMID:21219302]"
+BMGC_DS10819,BMG_DS038959,
+BMGC_DS10820,BMG_DS038960,
+BMGC_DS10821,BMG_DS038961,
+BMGC_DS10822,BMG_DS038962,MONDO: Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene.
+BMGC_DS10823,BMG_DS038963,"SNOMEDCT_US: An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in the literature to date. Lathosterolosis is due to mutations in the SC5D gene (11q23.3). A mutation in this gene leads to a deficiency in 3-beta-hydroxysteroid-delta-5-desaturase, which is necessary in the conversion of lathosterol into 7-dehydrocholesterol. This prevents the synthesis of cholesterol, which among other functions acts as a structural lipid, a precursor for bile acids and steroid hormones, and is necessary for the maturation of hedgehog morphogens during embryonic development. Inherited in an autosomal recessive manner. | MONDO: Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease."
+BMGC_DS10824,BMG_DS038965,"SNOMEDCT_US: A rare spondyloepimetaphyseal dysplasia with the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features and normal intelligence. | MONDO: Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC."
+BMGC_DS10825,BMG_DS038966,"NCI: An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. | MONDO: An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations."
+BMGC_DS10826,BMG_DS038968,"ORPHANET: A rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. | MONDO: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances."
+BMGC_DS10827,BMG_DS038969,"ORPHANET: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla."
+BMGC_DS10828,BMG_DS038970,MONDO: A cataract that has material basis in mutation in the region 2p12.
+BMGC_DS10829,BMG_DS038971,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.
+BMGC_DS10830,BMG_DS038973,MONDO: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.
+BMGC_DS10831,BMG_DS038974,"MONDO: Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. | MONDO: Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. | MeSH: Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. | MeSH: Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY."
+BMGC_DS10832,BMG_DS038975,"NCI: An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the SPG7 gene, encoding paraplegin. | MONDO: Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia."
+BMGC_DS10833,BMG_DS038978,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.
+BMGC_DS10834,BMG_DS038979,
+BMGC_DS10835,BMG_DS038983,MONDO: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.
+BMGC_DS10836,BMG_DS038984,MONDO: Autosomal recessive form of nonsyndromic deafness.
+BMGC_DS10837,BMG_DS038985,"ORPHANET: A very rare syndrome characterized by extreme microcephaly and early death, within the first year. | MONDO: Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year."
+BMGC_DS10838,BMG_DS038987,"SNOMEDCT_US: Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy with characteristics of proximal limb girdle weakness predominant in the legs together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. | MONDO: A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported."
+BMGC_DS10839,BMG_DS038988,"SNOMEDCT_US: A pure form of hereditary spastic paraplegia with characteristics of a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. | MONDO: Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy."
+BMGC_DS10840,BMG_DS038989,"NCI: An autosomally inherited subtype of moyamoya disease often presenting in childhood caused by mutation(s) in the RNF213 gene, encoding E3 ubiquitin-protein ligase RNF213. | MONDO: Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene."
+BMGC_DS10841,BMG_DS038990,"SNOMEDCT_US: Disease with characteristics of a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity and epilepsy. Worldwide prevalence is unknown. Fewer than 100 families have been reported to date. Clinical features overlap with many neurodegenerative syndromes and specifically Huntington disease. Caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. | MONDO: A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy."
+BMGC_DS10842,BMG_DS038991,
+BMGC_DS10843,BMG_DS038993,"MONDO: Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism."
+BMGC_DS10844,BMG_DS038995,MONDO: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.
+BMGC_DS10845,BMG_DS038996,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.
+BMGC_DS10846,BMG_DS038997,"NCI: A rare genetic syndrome caused by mutations in the NPHP1 gene. It is characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia. | MONDO: A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy."
+BMGC_DS10847,BMG_DS038998,"SNOMEDCT_US: Syndrome with characteristics of extremely short stature and other skeletal abnormalities including kyphoscoliosis, hyperlordosis, hip dislocation, hypermobility, dental problems and distinctive facial features. Mild intellectual disability may also be present. The disorder can be caused by mutations in the RMRP gene. This condition is inherited in an autosomal recessive pattern. | MONDO: A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation."
+BMGC_DS10848,BMG_DS039000,"SNOMEDCT_US: A rare neuromuscular disease with characteristics of progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. | MONDO: A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction."
+BMGC_DS10849,BMG_DS039001,
+BMGC_DS10850,BMG_DS039003,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.
+BMGC_DS10851,BMG_DS039004,"SNOMEDCT_US: A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission. | MONDO: Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission."
+BMGC_DS10852,BMG_DS039006,"NCI: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the LRRK2 gene, encoding leucine-rich repeat serine/threonine-protein kinase 2. | MONDO: Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene."
+BMGC_DS10853,BMG_DS039007,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.
+BMGC_DS10854,BMG_DS039008,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.
+BMGC_DS10855,BMG_DS039009,
+BMGC_DS10856,BMG_DS039010,MONDO: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.
+BMGC_DS10857,BMG_DS039011,
+BMGC_DS10858,BMG_DS039012,
+BMGC_DS10859,BMG_DS039014,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.
+BMGC_DS10860,BMG_DS039015,
+BMGC_DS10861,BMG_DS039016,"ORPHANET: A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. | MONDO: Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves."
+BMGC_DS10862,BMG_DS039017,MONDO: Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.
+BMGC_DS10863,BMG_DS039018,"ORPHANET: An extremely rare form of oculocutaneous albinism type 1 characterized by temperature sensitive hair pigmentation leading to dark hair on the hands, feet, legs, arms and chest (cooler body areas) and white or pale yellow hair on the scalp, axilla and pubic area (warmer body areas). Nystagmus and reduced visual acuity are also noted. | MONDO: Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)."
+BMGC_DS10864,BMG_DS039020,
+BMGC_DS10865,BMG_DS039022,"SNOMEDCT_US: A rare genetic vascular anomaly with characteristics of severe blood vessel expansion most frequently within the craniofacial bones with painless bone enlargement usually of mandibula, maxilla and/or orbital, nasal and frontal bones. This typically results in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos and loss of vision, nausea, and vomiting. There is evidence the disease is caused by homozygous mutation in the ELMO2 gene on chromosome 20q13. | MONDO: Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting."
+BMGC_DS10866,BMG_DS039023,NCI: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene. | MONDO: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
+BMGC_DS10867,BMG_DS039024,"NCI: A rare, autosomal dominant inherited neoplastic syndrome caused by mutations in the genes that code the succinate dehydrogenase protein complex. It is charcaterized by the presence of gastrointestinal stromal tumors and paragangliomas. | MONDO: Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites."
+BMGC_DS10868,BMG_DS039025,MONDO: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.
+BMGC_DS10869,BMG_DS039026,"NCI: An autosomal recessive condition caused by mutation(s) in the ADGRG1 gene, encoding adhesion G-protein coupled receptor G1. It is characterized by motor and cognitive developmental delay, pyramidal signs, and seizures. | MONDO: A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus."
+BMGC_DS10870,BMG_DS039028,
+BMGC_DS10871,BMG_DS039029,
+BMGC_DS10872,BMG_DS039030,
+BMGC_DS10873,BMG_DS039031,"NCI: An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by interphalangeal, metacarpophalangeal, and metatarsophalangeal joint deformity and painful osteoarthritis becoming apparent during the first decade of life. | MONDO: Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant."
+BMGC_DS10874,BMG_DS039032,
+BMGC_DS10875,BMG_DS039034,
+BMGC_DS10876,BMG_DS039035,
+BMGC_DS10877,BMG_DS039036,MONDO: An epileptic encephalopathy resulting from impaired glucose transport into the brain.
+BMGC_DS10878,BMG_DS039037,"ORPHANET: Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present. | MONDO: Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities."
+BMGC_DS10879,BMG_DS039038,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth."
+BMGC_DS10880,BMG_DS039039,HPO: A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. [https://orcid.org/0000-0002-0736-9199] | MeSH: Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in  REFRACTIVE ERROR.
+BMGC_DS10881,BMG_DS039040,"SNOMEDCT_US: A rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. There is evidence the disease is caused by homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. Patients become wheelchair dependent."
+BMGC_DS10882,BMG_DS039041,
+BMGC_DS10883,BMG_DS039042,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.
+BMGC_DS10884,BMG_DS039043,"SNOMEDCT_US: A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. | MONDO: Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur."
+BMGC_DS10885,BMG_DS039044,MONDO: Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.
+BMGC_DS10886,BMG_DS039046,"SNOMEDCT_US: A multiple epiphyseal dysplasia with a late-childhood onset manifesting as joint pain involving hips, knees, wrists and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees, scoliosis and slightly reduced adult height. Follows an autosomal recessive mode of transmission | MONDO: Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum."
+BMGC_DS10887,BMG_DS039047,MONDO: Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.
+BMGC_DS10888,BMG_DS039048,
+BMGC_DS10889,BMG_DS039049,
+BMGC_DS10890,BMG_DS039051,"NCI: An autosomal dominant condition caused by mutations in the TMC1 gene, encoding transmembrane channel-like protein 1. It is characterized by bilateral progressive hearing loss. | MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene."
+BMGC_DS10891,BMG_DS039052,"SNOMEDCT_US: A rare paroxysmal movement disorder with onset in childhood or adolescence. The disease has characteristics of paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness."
+BMGC_DS10892,BMG_DS039053,"SNOMEDCT_US: A rare genetic neurodegenerative disorder with characteristics of juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy and cognitive impairment. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene encoding a lysosomal type 5 ATPase, on chromosome 1p36. Some patients have neuroradiological evidence of iron deposition in the basal ganglia. | MONDO: Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment."
+BMGC_DS10893,BMG_DS039055,
+BMGC_DS10894,BMG_DS039056,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.
+BMGC_DS10895,BMG_DS039059,
+BMGC_DS10896,BMG_DS039061,"SNOMEDCT_US: A rare genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. | MONDO: Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases."
+BMGC_DS10897,BMG_DS039063,
+BMGC_DS10898,BMG_DS039064,
+BMGC_DS10899,BMG_DS039065,"SNOMEDCT_US: A rare subtype of type 1 autosomal dominant cerebellar ataxia with characteristics of cerebellar ataxia, tremor and cognitive impairment. Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date. Age of onset is from 20 to 66 years. Genetic testing has shown that patients originally classified under SCA15 and SCA16 have the same subtype caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 ITPR1 gene (3p26.1). Prognosis is generally good and life-shortening events do not usually occur. | MONDO: Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment."
+BMGC_DS10900,BMG_DS039066,
+BMGC_DS10901,BMG_DS039068,"SNOMEDCT_US: A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with the ALS3 gene on the cytogenetic location 18q21."
+BMGC_DS10902,BMG_DS039070,MONDO: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
+BMGC_DS10903,BMG_DS039071,"NCI: A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. | MONDO: Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. | MeSH: Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities."
+BMGC_DS10904,BMG_DS039072,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with symmetric weakness primarily occurring in the lower limbs and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. Presents with gait anomaly between the first and sixth decade and early onset is generally associated to a more severe phenotype that may include foot drop. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop."
+BMGC_DS10905,BMG_DS039073,"NCI: A very rare genetic disorder caused by mutation in the LIG4 gene. It is characterized by unusual facial features, microcephaly, growth and developmental delay, severe immunodeficiency, and skin abnormalities. | MONDO: LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)."
+BMGC_DS10906,BMG_DS039074,
+BMGC_DS10907,BMG_DS039075,
+BMGC_DS10908,BMG_DS039076,"SNOMEDCT_US: A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Visual changes are not progressive. Caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. Inheritance is autosomal recessive. | MONDO: Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm."
+BMGC_DS10909,BMG_DS039077,"SNOMEDCT_US: A very rare form of hereditary episodic ataxia with characteristics of vestibular ataxia, vertigo, tinnitus and interictal myokymia. | MONDO: Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia."
+BMGC_DS10910,BMG_DS039078,"SNOMEDCT_US: A very rare form of hereditary episodic ataxia with characteristics of late-onset episodic ataxia, recurrent attacks of vertigo and diplopia. | MONDO: Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia."
+BMGC_DS10911,BMG_DS039080,
+BMGC_DS10912,BMG_DS039082,"MONDO: PHACE is an acronym used to describe a syndrome characterized by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery."
+BMGC_DS10913,BMG_DS039083,"SNOMEDCT_US: A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards."
+BMGC_DS10914,BMG_DS039084,"SNOMEDCT_US: A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. | MONDO: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts."
+BMGC_DS10915,BMG_DS039085,
+BMGC_DS10916,BMG_DS039086,
+BMGC_DS10917,BMG_DS039087,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.
+BMGC_DS10918,BMG_DS039088,"SNOMEDCT_US: A rare generally benign lymphoproliferative hematological disease characterized by chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. | MONDO: Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly."
+BMGC_DS10919,BMG_DS039089,"SNOMEDCT_US: A severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes with a triad of movement, psychiatric and cognitive abnormalities. Prevalence and incidence are unknown but this disease is very rare, with fewer than 50 families reported worldwide. Patients may develop psychiatric abnormalities as the initial manifestation, with later appearance of chorea, parkinsonism and dystonia. The disease may evolve from chorea to a more bradykinetic, dystonic phenotype, or remain parkinsonian. Caused by expanded trinucleotide repeats of the JPH3 junctophilin 3 gene (16q24.3). Affected individuals have CTG/CAG repeat expansions of 41-59 triplets (normal population: 6-27). Follows an autosomal dominant pattern of inheritance. A relentlessly progressive disorder with a poor prognosis. | MONDO: Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities."
+BMGC_DS10920,BMG_DS039090,"ORPHANET: A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia."
+BMGC_DS10921,BMG_DS039091,"ORPHANET: A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages. | MONDO: A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."
+BMGC_DS10922,BMG_DS039093,
+BMGC_DS10923,BMG_DS039094,
+BMGC_DS10924,BMG_DS039095,
+BMGC_DS10925,BMG_DS039096,
+BMGC_DS10926,BMG_DS039097,"SNOMEDCT_US: A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flared, irregular, cupped metaphyses. | MONDO: X-linked form of spondyloepimetaphyseal dysplasia."
+BMGC_DS10927,BMG_DS039098,"ORPHANET: Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. | MONDO: Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance."
+BMGC_DS10928,BMG_DS039099,
+BMGC_DS10929,BMG_DS039100,
+BMGC_DS10930,BMG_DS039101,
+BMGC_DS10931,BMG_DS039102,"SNOMEDCT_US: A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter. | MONDO: X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males."
+BMGC_DS10932,BMG_DS039103,
+BMGC_DS10933,BMG_DS039104,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.
+BMGC_DS10934,BMG_DS039106,"MeSH: Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)"
+BMGC_DS10935,BMG_DS039107,
+BMGC_DS10936,BMG_DS039108,"NCI: A developmental brain abnormality characterized by atypical migration of neurons during cortical development. | MONDO: A developmental brain abnormality characterized by atypical migration of neurons during cortical development. | MeSH: Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)"
+BMGC_DS10937,BMG_DS039109,"NCI: An X-linked dominant condition caused by mutation (s) in the SMPX gene, encoding small muscular protein. It is characterized by progressive sensorineural hearing loss. | MONDO: Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene."
+BMGC_DS10938,BMG_DS039111,"MeSH: A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches."
+BMGC_DS10939,BMG_DS039113,"NCI: Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the NR0B1 gene, encoding nuclear receptor subfamily 0 group B member 1."
+BMGC_DS10940,BMG_DS039114,"ORPHANET: A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent. | MONDO: Dent disease type 1 is a type of Dent disease with predominantly renal manifestations."
+BMGC_DS10941,BMG_DS039116,"SNOMEDCT_US: A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive. | MONDO: CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy."
+BMGC_DS10942,BMG_DS039118,"NCI: A type of xeroderma pigmentosum resulting from mutation(s) in the POLH gene, encoding DNA polymerase eta. This form of the disease is characterized by normal DNA excision repair, but defective post-replication repair of DNA at UV-damaged sites. | MONDO: Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer."
+BMGC_DS10943,BMG_DS039119,"NCI: An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. | MONDO: An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer."
+BMGC_DS10944,BMG_DS039122,
+BMGC_DS10945,BMG_DS039123,"SNOMEDCT_US: A rare intellectual disability syndrome with manifestations of severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias. | MONDO: Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias."
+BMGC_DS10946,BMG_DS039125,"SNOMEDCT_US: A multiple congenital anomalies syndrome with characteristics of poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins) and skeletal (clinodactyly, syndactyly of the fingers and second and third toes) systems. There have been no further descriptions in the literature since 1980. | MONDO: White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980."
+BMGC_DS10947,BMG_DS039126,
+BMGC_DS10948,BMG_DS039128,"MONDO: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities."
+BMGC_DS10949,BMG_DS039129,"NCI: A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease. | MONDO: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB."
+BMGC_DS10950,BMG_DS039131,
+BMGC_DS10951,BMG_DS039134,"NCI: An autosomal recessive condition caused by mutation(s) in the TTPA gene, encoding alpha-tocopherol transfer protein. It is characterized by spinocerebellar ataxia and extremely low concentrations of vitamin E. | MONDO: Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E."
+BMGC_DS10952,BMG_DS039135,"MONDO: Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z."
+BMGC_DS10953,BMG_DS039136,"NCI: An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMADHC gene, encoding cobalamin trafficking protein CblD. | MONDO: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations."
+BMGC_DS10954,BMG_DS039137,
+BMGC_DS10955,BMG_DS039138,
+BMGC_DS10956,BMG_DS039139,"NCI: An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMACHC gene, encoding methylmalonic aciduria and homocystinuria type C protein. | MONDO: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner."
+BMGC_DS10957,BMG_DS039140,"NCI: An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the LMBRD1 gene, encoding lysosomal cobalamin transport escort protein LMBD1. | MONDO: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner."
+BMGC_DS10958,BMG_DS039141,"SNOMEDCT_US: An extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. | MONDO: Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction."
+BMGC_DS10959,BMG_DS039142,"SNOMEDCT_US: A rare congenital heart malformation with characteristics of underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. Manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. | MONDO: Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy."
+BMGC_DS10960,BMG_DS039143,"MONDO: A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage."
+BMGC_DS10961,BMG_DS039144,
+BMGC_DS10962,BMG_DS039145,"MONDO: VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association."
+BMGC_DS10963,BMG_DS039147,MONDO: A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner.
+BMGC_DS10964,BMG_DS039148,MONDO: Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.
+BMGC_DS10965,BMG_DS039151,
+BMGC_DS10966,BMG_DS039152,"MONDO: Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation."
+BMGC_DS10967,BMG_DS039153,"SNOMEDCT_US: Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal. | MONDO: Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder."
+BMGC_DS10968,BMG_DS039156,
+BMGC_DS10969,BMG_DS039157,HPO: Muscular atrophy affecting muscles in the distal portions of the extremities. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS10970,BMG_DS039159,"SNOMEDCT_US: This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive. | MONDO: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability."
+BMGC_DS10971,BMG_DS039160,
+BMGC_DS10972,BMG_DS039161,
+BMGC_DS10973,BMG_DS039164,
+BMGC_DS10974,BMG_DS039165,
+BMGC_DS10975,BMG_DS039166,"SNOMEDCT_US: This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple. | MONDO: This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus."
+BMGC_DS10976,BMG_DS039167,"MONDO: Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait."
+BMGC_DS10977,BMG_DS039168,MONDO: An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome.
+BMGC_DS10978,BMG_DS039170,"MONDO: Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation."
+BMGC_DS10979,BMG_DS039171,
+BMGC_DS10980,BMG_DS039172,"MONDO: OBSOLETE. An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978."
+BMGC_DS10981,BMG_DS039174,HPO: An increased concentration of threonine in the blood. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS10982,BMG_DS039175,"ORPHANET: A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. | MONDO: 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence."
+BMGC_DS10983,BMG_DS039176,"SNOMEDCT_US: An extremely rare primary bone dysplasia disorder characterised by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. Acetabular spurs and phalangeal cone-shaped epiphyses are not present and osseous manifestations tend to normalise with age. There have been no further descriptions in the literature since 1988."
+BMGC_DS10984,BMG_DS039178,
+BMGC_DS10985,BMG_DS039179,
+BMGC_DS10986,BMG_DS039180,
+BMGC_DS10987,BMG_DS039183,"SNOMEDCT_US: A rare genetic development defect during embryogenesis malformation syndrome with the association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. | MONDO: Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features."
+BMGC_DS10988,BMG_DS039184,
+BMGC_DS10989,BMG_DS039185,
+BMGC_DS10990,BMG_DS039187,
+BMGC_DS10991,BMG_DS039189,"MeSH: An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry."
+BMGC_DS10992,BMG_DS039190,
+BMGC_DS10993,BMG_DS039192,"ORPHANET: A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet. | MONDO: Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism."
+BMGC_DS10994,BMG_DS039193,"NCI: An autosomal recessive condition caused by mutation(s) in the CRLF1 gene, encoding cytokine receptor-like factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy. | MONDO: Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly."
+BMGC_DS10995,BMG_DS039194,HPO: A type of dystonia that affects all or most of the body. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS10996,BMG_DS039195,
+BMGC_DS10997,BMG_DS039197,"MONDO: A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal."
+BMGC_DS10998,BMG_DS039198,"SNOMEDCT_US: An autosomal recessive form of brachyolmia a group of rare genetic skeletal disorders, with features of short stature, short trunk, platyspondyly and corneal opacities."
+BMGC_DS10999,BMG_DS039199,"MONDO: Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit."
+BMGC_DS11000,BMG_DS039200,MONDO: Autosomal recessive form of spondyloepiphyseal dysplasia tarda.
+BMGC_DS11001,BMG_DS039201,
+BMGC_DS11002,BMG_DS039202,"SNOMEDCT_US: Syndrome with the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. | MONDO: Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested."
+BMGC_DS11003,BMG_DS039203,"SNOMEDCT_US: Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic. | MONDO: Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia."
+BMGC_DS11004,BMG_DS039204,"SNOMEDCT_US: Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy. | MONDO: A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985."
+BMGC_DS11005,BMG_DS039206,ORPHANET: A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy.
+BMGC_DS11006,BMG_DS039207,SNOMEDCT_US: A hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life threatening. Caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. The mutations lead to mtDNA depletion in the brain and the liver but not in the muscle. Inherited in an autosomal recessive manner. | MONDO: Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
+BMGC_DS11007,BMG_DS039209,
+BMGC_DS11008,BMG_DS039211,
+BMGC_DS11009,BMG_DS039212,"MONDO: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents."
+BMGC_DS11010,BMG_DS039213,"MONDO: Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive."
+BMGC_DS11011,BMG_DS039215,"SNOMEDCT_US: A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted on brain magnetic resonance imaging in some patients. The disease is caused by homozygous or compound heterozygous mutation in the CYP7B1 gene on chromosome 8q12. | MONDO: Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients."
+BMGC_DS11012,BMG_DS039216,"SNOMEDCT_US: A complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. | MONDO: Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding."
+BMGC_DS11013,BMG_DS039217,
+BMGC_DS11014,BMG_DS039218,"NCI: An autosomal recessive condition caused by mutation(s) in the SACS gene, encoding sacsin. It is characterized by early onset cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. | MONDO: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy."
+BMGC_DS11015,BMG_DS039219,
+BMGC_DS11016,BMG_DS039220,"NCI: Tissue unresponsiveness to insulin-like growth factor-I. | MONDO: Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum)."
+BMGC_DS11017,BMG_DS039222,
+BMGC_DS11018,BMG_DS039223,"SNOMEDCT_US: A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalized distribution. | MONDO: Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene."
+BMGC_DS11019,BMG_DS039226,
+BMGC_DS11020,BMG_DS039229,
+BMGC_DS11021,BMG_DS039230,"MONDO: Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait."
+BMGC_DS11022,BMG_DS039231,
+BMGC_DS11023,BMG_DS039232,"ORPHANET: Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia."
+BMGC_DS11024,BMG_DS039233,"SNOMEDCT_US: Syndrome with characteristics of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs) and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and highly arched palate was also observed. Transmission is autosomal recessive. There is evidence this syndrome is caused by homozygous or compound heterozygous mutation in the EIF4A3 gene on chromosome 17q25. | MONDO: Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive."
+BMGC_DS11025,BMG_DS039234,"MONDO: Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies."
+BMGC_DS11026,BMG_DS039235,
+BMGC_DS11027,BMG_DS039236,
+BMGC_DS11028,BMG_DS039237,"MONDO: An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration."
+BMGC_DS11029,BMG_DS039239,"HPO: A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. [https://orcid.org/0000-0003-0986-4123, PMID:28981474] | MONDO: A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy."
+BMGC_DS11030,BMG_DS039241,MONDO: A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.
+BMGC_DS11031,BMG_DS039242,"MONDO: Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993."
+BMGC_DS11032,BMG_DS039245,
+BMGC_DS11033,BMG_DS039246,
+BMGC_DS11034,BMG_DS039248,
+BMGC_DS11035,BMG_DS039249,
+BMGC_DS11036,BMG_DS039250,"ORPHANET: Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. | MONDO: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13."
+BMGC_DS11037,BMG_DS039253,
+BMGC_DS11038,BMG_DS039254,
+BMGC_DS11039,BMG_DS039255,"ORPHANET: A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. | MONDO: RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence."
+BMGC_DS11040,BMG_DS039256,"MONDO: Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears)."
+BMGC_DS11041,BMG_DS039257,
+BMGC_DS11042,BMG_DS039258,"ORPHANET: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported. | MONDO: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported."
+BMGC_DS11043,BMG_DS039259,"ORPHANET: A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). | MONDO: A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6)."
+BMGC_DS11044,BMG_DS039260,"SNOMEDCT_US: Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterised by severe generalised osteosclerosis. The disease is very rare and only five cases (four males and one female) have been reported in the literature so far. Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognised at birth. The main clinical manifestations include a large head, palpebral oedema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism. Aetiology remains unknown. Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period. | MONDO: Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis."
+BMGC_DS11045,BMG_DS039262,"NCI: A congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of the lungs. Signs and symptoms appear at birth and include tachypnea, cyanosis, and respiratory distress. | MONDO: Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation."
+BMGC_DS11046,BMG_DS039263,
+BMGC_DS11047,BMG_DS039264,
+BMGC_DS11048,BMG_DS039265,"NCI: A rare syndrome likely inherited in an autosomal recessive pattern. It is characterized by holoprosencephaly, polydactyly, phenotypic features reminiscent of trisomy 13, and normal karyotype. | MONDO: Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13."
+BMGC_DS11049,BMG_DS039268,"NCI: An autosomal recessive condition caused by mutation(s) in the ACOX1 gene, encoding peroxisomal acyl-coenzyme A oxidase 1. It is characterized by increased concentrations of serum VLCFA and lack of ACOX1 activity. The clinical manifestations of this disease are similar to those of disorders of peroxisomal assembly. | MONDO: Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy."
+BMGC_DS11050,BMG_DS039269,
+BMGC_DS11051,BMG_DS039271,
+BMGC_DS11052,BMG_DS039272,
+BMGC_DS11053,BMG_DS039273,
+BMGC_DS11054,BMG_DS039274,"ORPHANET: A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine. | MONDO: Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner."
+BMGC_DS11055,BMG_DS039275,
+BMGC_DS11056,BMG_DS039276,"SNOMEDCT_US: A rare inherited popliteal pterygium syndrome with characteristics of severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, genital abnormalities and additional ectodermal anomalies (absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period but survival into childhood has been reported. | MONDO: A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported."
+BMGC_DS11057,BMG_DS039277,"SNOMEDCT_US: Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). | MONDO: Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts)."
+BMGC_DS11058,BMG_DS039278,
+BMGC_DS11059,BMG_DS039279,
+BMGC_DS11060,BMG_DS039280,"SNOMEDCT_US: A glycogen storage disease of adults with characteristics of progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. The prevalence is unknown. More than 50 cases have been described to date in Ashkenazi (in most cases) and non-Ashkenazi Jewish individuals. Presents after the age of 40, with urinary incontinence (indicative of neurogenic bladder) often being the first manifestation. Caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE). | MONDO: Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia."
+BMGC_DS11061,BMG_DS039281,
+BMGC_DS11062,BMG_DS039283,
+BMGC_DS11063,BMG_DS039284,HPO: The presence of fibrosis affecting the interlobular stroma of liver. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS11064,BMG_DS039287,
+BMGC_DS11065,BMG_DS039289,"ORPHANET: Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the &lt;i&gt;GH1&lt;/i&gt; gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. | MONDO: Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive."
+BMGC_DS11066,BMG_DS039290,MONDO: Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.
+BMGC_DS11067,BMG_DS039292,"MONDO: Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents."
+BMGC_DS11068,BMG_DS039293,"ORPHANET: A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. | MONDO: Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene."
+BMGC_DS11069,BMG_DS039294,
+BMGC_DS11070,BMG_DS039295,
+BMGC_DS11071,BMG_DS039298,"NCI: The presence of Mullerian duct-derived structures in a phenotypically male individual. | MONDO: Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys."
+BMGC_DS11072,BMG_DS039299,MONDO: A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix.
+BMGC_DS11073,BMG_DS039300,
+BMGC_DS11074,BMG_DS039301,
+BMGC_DS11075,BMG_DS039303,"SNOMEDCT_US: Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia. | MONDO: Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism."
+BMGC_DS11076,BMG_DS039305,MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.
+BMGC_DS11077,BMG_DS039306,MONDO: An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.
+BMGC_DS11078,BMG_DS039307,"SNOMEDCT_US: A rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Transmission appears to be autosomal recessive. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration. | MONDO: PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies."
+BMGC_DS11079,BMG_DS039308,"SNOMEDCT_US: A rare genetic neurological disease characterised by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb oedema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16. | MONDO: PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated."
+BMGC_DS11080,BMG_DS039310,"MONDO: PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease."
+BMGC_DS11081,BMG_DS039311,"NCI: A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death. | MONDO: A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death."
+BMGC_DS11082,BMG_DS039314,
+BMGC_DS11083,BMG_DS039315,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of the association of both parkinsonian (such as bradykinesia, rigidity and/or rest tremor) and pyramidal (such as increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (for example neurodegenerative disease, inborn errors of metabolism). | MONDO: A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3."
+BMGC_DS11084,BMG_DS039319,
+BMGC_DS11085,BMG_DS039320,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported."
+BMGC_DS11086,BMG_DS039321,"ORPHANET: A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. | MONDO: Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course."
+BMGC_DS11087,BMG_DS039322,MONDO: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.
+BMGC_DS11088,BMG_DS039323,"NCI: A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the TCIRG1 gene on chromosome 11q13, encoding the osteoclast-specific (alpha 3) subunit of the vacuolar proton pump. It is characterized by macrocephaly, frontal bossing, nystagmus, optic atrophy, blindness, deafness, and facial palsy. | MONDO: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene."
+BMGC_DS11089,BMG_DS039324,"SNOMEDCT_US: A rare syndrome described in two sisters of Mennonite descent, with characteristics of sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. | MONDO: Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992."
+BMGC_DS11090,BMG_DS039325,
+BMGC_DS11091,BMG_DS039327,"NCI: A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy. | MONDO: A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations."
+BMGC_DS11092,BMG_DS039328,MONDO: Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.
+BMGC_DS11093,BMG_DS039329,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.
+BMGC_DS11094,BMG_DS039330,"ORPHANET: A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal &lt;i&gt;in utero&lt;/i&gt; or shortly after birth. There have been no further descriptions in the literature since 1978. | MONDO: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterized by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive."
+BMGC_DS11095,BMG_DS039331,
+BMGC_DS11096,BMG_DS039334,
+BMGC_DS11097,BMG_DS039335,
+BMGC_DS11098,BMG_DS039336,
+BMGC_DS11099,BMG_DS039337,"SNOMEDCT_US: A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form. | MONDO: Autosomal recessive form of progressive external ophthalmoplegia."
+BMGC_DS11100,BMG_DS039338,
+BMGC_DS11101,BMG_DS039339,
+BMGC_DS11102,BMG_DS039340,"SNOMEDCT_US: Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition. | MONDO: Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition."
+BMGC_DS11103,BMG_DS039341,"SNOMEDCT_US: An autosomal recessive generalised form of omodysplasia, a rare skeletal dysplasia, with characteristics of severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs. | MONDO: Autosomal recessive form of omodysplasia."
+BMGC_DS11104,BMG_DS039343,"SNOMEDCT_US: A very rare syndrome with characteristics of intellectual deficit, postaxial polydactyly and epilepsy. To date, seven individuals in three families have been reported. Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded. | MONDO: Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy."
+BMGC_DS11105,BMG_DS039344,"NCI: A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities. | MONDO: A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus."
+BMGC_DS11106,BMG_DS039345,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982."
+BMGC_DS11107,BMG_DS039347,"SNOMEDCT_US: The association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. It has been described in five patients (three boys and two girls). The clinical manifestations are evident from birth. The palate anomaly is usually cleft palate. In the majority of cases, postnatal growth is marked by statural and ponderal retardation. Microcephaly is present in all patients.Persistent hyperplastic primary vitreous was present in all cases reported so far. Facial dysmorphology has characteristics of full cheeks, a bulbous nasal tip and long ears with thickened helices. Hands and feet are small. Anomalies of the external genitalia were reported in some of the male patients, with two of the boys displaying cryptorchidism. Skeletal anomalies include pectus excavatum, joint hyperlaxity and kyphoscoliosis. Intellectual deficit (moderate to severe) is a constant feature. So far, neither a causative gene nor locus has been identified. | MONDO: Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities."
+BMGC_DS11108,BMG_DS039349,"NCI: An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer. | MONDO: Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene."
+BMGC_DS11109,BMG_DS039350,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.
+BMGC_DS11110,BMG_DS039352,"MONDO: Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma."
+BMGC_DS11111,BMG_DS039353,
+BMGC_DS11112,BMG_DS039355,
+BMGC_DS11113,BMG_DS039358,MONDO: Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.
+BMGC_DS11114,BMG_DS039360,MONDO: This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
+BMGC_DS11115,BMG_DS039361,"SNOMEDCT_US: A rare life-threatening mitochondrial DNA depletion syndrome disease with characteristics of severe progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections and sexual infantilism."
+BMGC_DS11116,BMG_DS039362,
+BMGC_DS11117,BMG_DS039363,"NCI: An autosomal recessive subtype of neuronal ceroid lipofuscinosis caused, by mutation(s) in the CLN5 gene, encoding ceroid-lipofuscinosis neuronal protein 5. | MONDO: Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
+BMGC_DS11118,BMG_DS039364,"MONDO: A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
+BMGC_DS11119,BMG_DS039367,"MONDO: Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant."
+BMGC_DS11120,BMG_DS039369,"ORPHANET: A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. | MONDO: A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene."
+BMGC_DS11121,BMG_DS039370,
+BMGC_DS11122,BMG_DS039371,"ORPHANET: A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly."
+BMGC_DS11123,BMG_DS039372,NCI: An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness. | MONDO: An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
+BMGC_DS11124,BMG_DS039375,
+BMGC_DS11125,BMG_DS039377,"SNOMEDCT_US: A neuromuscular disorder characterised by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anaesthesia. Reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence is estimated at approximately 1:5,000. The locus has been localised to 12q13.13-14.1. The disease is transmitted in an autosomal recessive manner. | MONDO: Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia."
+BMGC_DS11126,BMG_DS039378,"SNOMEDCT_US: Nathalie syndrome has characteristics of deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. | MONDO: Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother."
+BMGC_DS11127,BMG_DS039379,"SNOMEDCT_US: A rare multiple congenital anomalies syndrome with characteristics of facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. | MONDO: A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis."
+BMGC_DS11128,BMG_DS039381,"SNOMEDCT_US: A rare genetic non-dystrophic myopathy characterized by early diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. There is evidence the disease is caused by homozygous mutation in the COL6A2 gene. | MONDO: Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries."
+BMGC_DS11129,BMG_DS039382,"HPO: Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. [https://orcid.org/0000-0002-0736-9199] | MONDO: An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as \"
+BMGC_DS11130,BMG_DS039383,
+BMGC_DS11131,BMG_DS039385,ORPHANET: A rare disease characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase. | MONDO: Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
+BMGC_DS11132,BMG_DS039387,
+BMGC_DS11133,BMG_DS039388,"ORPHANET: Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay."
+BMGC_DS11134,BMG_DS039391,MONDO: Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.
+BMGC_DS11135,BMG_DS039392,
+BMGC_DS11136,BMG_DS039393,
+BMGC_DS11137,BMG_DS039394,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.
+BMGC_DS11138,BMG_DS039395,
+BMGC_DS11139,BMG_DS039396,
+BMGC_DS11140,BMG_DS039397,
+BMGC_DS11141,BMG_DS039398,
+BMGC_DS11142,BMG_DS039399,"MONDO: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive."
+BMGC_DS11143,BMG_DS039401,"SNOMEDCT_US: Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy with characteristics of limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed."
+BMGC_DS11144,BMG_DS039402,"SNOMEDCT_US: A rare syndromic hyperpigmentation of the skin with characteristics of multiple lentigines and cafe-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982."
+BMGC_DS11145,BMG_DS039405,
+BMGC_DS11146,BMG_DS039406,"ORPHANET: Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. | MONDO: A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness."
+BMGC_DS11147,BMG_DS039408,MONDO: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
+BMGC_DS11148,BMG_DS039412,
+BMGC_DS11149,BMG_DS039417,"SNOMEDCT_US: A rare genetic neuro-ophthalmological disease with characteristics of congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (for example hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported. | MONDO: An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome."
+BMGC_DS11150,BMG_DS039421,MONDO: Eng-Strom syndrome is characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant.
+BMGC_DS11151,BMG_DS039423,"SNOMEDCT_US: Complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). | MONDO: Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested."
+BMGC_DS11152,BMG_DS039424,
+BMGC_DS11153,BMG_DS039425,MONDO: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.
+BMGC_DS11154,BMG_DS039426,"SNOMEDCT_US: This syndrome has characteristics of gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. | MONDO: Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait."
+BMGC_DS11155,BMG_DS039427,"MONDO: Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback."
+BMGC_DS11156,BMG_DS039428,
+BMGC_DS11157,BMG_DS039429,
+BMGC_DS11158,BMG_DS039430,
+BMGC_DS11159,BMG_DS039432,"ORPHANET: Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. | MONDO: Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity."
+BMGC_DS11160,BMG_DS039433,"ORPHANET: A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities. | MONDO: Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene."
+BMGC_DS11161,BMG_DS039434,"MeSH: A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene."
+BMGC_DS11162,BMG_DS039435,
+BMGC_DS11163,BMG_DS039437,
+BMGC_DS11164,BMG_DS039438,
+BMGC_DS11165,BMG_DS039439,
+BMGC_DS11166,BMG_DS039440,"SNOMEDCT_US: A rare peripheral neuropathy with characteristics of acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously and it might be recurrent with no obvious precipitating factors."
+BMGC_DS11167,BMG_DS039441,"NCI: An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity."
+BMGC_DS11168,BMG_DS039443,"MONDO: This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
+BMGC_DS11169,BMG_DS039444,"MONDO: Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985."
+BMGC_DS11170,BMG_DS039445,
+BMGC_DS11171,BMG_DS039446,
+BMGC_DS11172,BMG_DS039448,"ORPHANET: A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen. | MeSH: An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA."
+BMGC_DS11173,BMG_DS039449,"SNOMEDCT_US: Disease with characteristics of papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Reported in 25 members of one French-Canadian family to date. Due to a mutation in the ELOVL4 gene (6q14). | MONDO: A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes."
+BMGC_DS11174,BMG_DS039450,"SNOMEDCT_US: A rare benign congenital genetic skin disorder with characteristics of permanent and asymptomatic erythema of the palmar and less frequently the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. | MONDO: A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient."
+BMGC_DS11175,BMG_DS039451,
+BMGC_DS11176,BMG_DS039452,MONDO: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.
+BMGC_DS11177,BMG_DS039455,
+BMGC_DS11178,BMG_DS039456,"MONDO: Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits."
+BMGC_DS11179,BMG_DS039459,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. | MONDO: A rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. | MeSH: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)"
+BMGC_DS11180,BMG_DS039460,
+BMGC_DS11181,BMG_DS039461,"SNOMEDCT_US: A rare subtype of dystrophic epidermolysis bullosa characterised by generalised blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait. | MONDO: Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life."
+BMGC_DS11182,BMG_DS039464,
+BMGC_DS11183,BMG_DS039465,NCI: Abnormally low level of eosinophils in the blood.
+BMGC_DS11184,BMG_DS039466,
+BMGC_DS11185,BMG_DS039468,"ORPHANET: A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal."
+BMGC_DS11186,BMG_DS039469,
+BMGC_DS11187,BMG_DS039470,MONDO: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
+BMGC_DS11188,BMG_DS039471,
+BMGC_DS11189,BMG_DS039472,
+BMGC_DS11190,BMG_DS039473,
+BMGC_DS11191,BMG_DS039474,MONDO: An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
+BMGC_DS11192,BMG_DS039475,
+BMGC_DS11193,BMG_DS039477,
+BMGC_DS11194,BMG_DS039478,
+BMGC_DS11195,BMG_DS039481,
+BMGC_DS11196,BMG_DS039482,
+BMGC_DS11197,BMG_DS039483,
+BMGC_DS11198,BMG_DS039484,"MONDO: Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant."
+BMGC_DS11199,BMG_DS039485,
+BMGC_DS11200,BMG_DS039486,
+BMGC_DS11201,BMG_DS039487,
+BMGC_DS11202,BMG_DS039488,
+BMGC_DS11203,BMG_DS039489,"NCI: A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle contractions and other uncontrolled movements in the lower limbs that worsen with excercise and improve with rest. | MONDO: Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. | MONDO: An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene."
+BMGC_DS11204,BMG_DS039491,HPO: Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS11205,BMG_DS039492,MONDO: DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).
+BMGC_DS11206,BMG_DS039493,"NCI: An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by involuntary muscle contractions in the arms, legs, trunk, and neck. | MONDO: A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body."
+BMGC_DS11207,BMG_DS039494,
+BMGC_DS11208,BMG_DS039498,
+BMGC_DS11209,BMG_DS039502,
+BMGC_DS11210,BMG_DS039503,
+BMGC_DS11211,BMG_DS039506,
+BMGC_DS11212,BMG_DS039507,
+BMGC_DS11213,BMG_DS039508,"SNOMEDCT_US: This syndrome has characteristics of multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. It has been observed in approximately 20 individuals. Clinical manifestations include the presence of cranial lumps, numerous pathologic fractures, elevated serum alkaline phosphatase levels, and dental caries. Transmission is autosomal dominant. | MONDO: This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria."
+BMGC_DS11214,BMG_DS039509,
+BMGC_DS11215,BMG_DS039511,
+BMGC_DS11216,BMG_DS039514,
+BMGC_DS11217,BMG_DS039515,"MONDO: Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis."
+BMGC_DS11218,BMG_DS039516,
+BMGC_DS11219,BMG_DS039518,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.
+BMGC_DS11220,BMG_DS039519,"NCI: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. | MONDO: Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha."
+BMGC_DS11221,BMG_DS039520,MONDO: Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.
+BMGC_DS11222,BMG_DS039521,"SNOMEDCT_US: Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasia. It has signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. | MONDO: Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely."
+BMGC_DS11223,BMG_DS039522,"MONDO: Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may involve use of antihistamines if symptoms do not go away on their own."
+BMGC_DS11224,BMG_DS039523,
+BMGC_DS11225,BMG_DS039524,"MONDO: Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles."
+BMGC_DS11226,BMG_DS039527,
+BMGC_DS11227,BMG_DS039529,
+BMGC_DS11228,BMG_DS039530,
+BMGC_DS11229,BMG_DS039531,"MONDO: A rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977."
+BMGC_DS11230,BMG_DS039532,"ORPHANET: A rare genetic odontologic disease characterized by failure of eruption of non-ankylosed permanent teeth without evidence of obvious mechanical obstruction. Posterior teeth are preferentially affected (typically with involvement of all teeth distal to the most mesial non-erupted tooth), resulting in a posterior open bite. Non-ankylosed teeth tend to become ankylosed, and orthodontic treatment of affected teeth is generally unsuccessful."
+BMGC_DS11231,BMG_DS039533,
+BMGC_DS11232,BMG_DS039537,"MONDO: A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception."
+BMGC_DS11233,BMG_DS039539,
+BMGC_DS11234,BMG_DS039540,
+BMGC_DS11235,BMG_DS039541,"ORPHANET: A rare genetic disease characterized by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. | MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene."
+BMGC_DS11236,BMG_DS039542,
+BMGC_DS11237,BMG_DS039544,
+BMGC_DS11238,BMG_DS039545,
+BMGC_DS11239,BMG_DS039546,
+BMGC_DS11240,BMG_DS039548,"ORPHANET: Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). | MONDO: Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms)."
+BMGC_DS11241,BMG_DS039549,
+BMGC_DS11242,BMG_DS039552,"NCI: A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles. | MONDO: A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy."
+BMGC_DS11243,BMG_DS039555,"HPO: A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. [https://orcid.org/0000-0002-0736-9199, PMID:10634616, PMID:14059288]"
+BMGC_DS11244,BMG_DS039558,"MONDO: Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant."
+BMGC_DS11245,BMG_DS039560,
+BMGC_DS11246,BMG_DS039561,"MONDO: Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia."
+BMGC_DS11247,BMG_DS039562,
+BMGC_DS11248,BMG_DS039566,
+BMGC_DS11249,BMG_DS039567,"ORPHANET: A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (including flat facial profile normal calvarium, hypertelorism, small downslanting palpebral fissures with an antimongoloid slant, hypoplastic nose with button tip and slitlike nares, and small, pursed mouth), profound sensorineural hearing loss/deafness and hand anomalies such as ulnar deviations and contractures of the hand. | MONDO: Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features."
+BMGC_DS11250,BMG_DS039568,
+BMGC_DS11251,BMG_DS039569,"SNOMEDCT_US: An extremely rare primary bone defect described only in a mother and her three daughters to date. The disease has characteristics of short stature, hip dislocation, minor vertebral and pelvic changes and microtia with hearing loss. There have been no further descriptions in the literature since 1981. | MONDO: Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981."
+BMGC_DS11252,BMG_DS039572,"SNOMEDCT_US: A rare anomaly with characteristics of fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. It has been described only once in several members of a single family from Canada. The abnormality resulted in a strong pectoral girdle with lack of mobility. Movements requiring rotation or retraction of the scapula were limited, but this does not normally interfere with daily activities. | MONDO: Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour."
+BMGC_DS11253,BMG_DS039573,"SNOMEDCT_US: A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. | MONDO: Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists."
+BMGC_DS11254,BMG_DS039574,"NCI: The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period."
+BMGC_DS11255,BMG_DS039577,"SNOMEDCT_US: A rare form of superficial corneal dystrophy with recurrent episodes of epithelial erosions from childhood in the absence of associated diseases. The erosions begin spontaneously or are precipitated by minor trauma, dust or smoke. The condition may become apparent by 6 months of age, but as a rule it only starts at 4 to 6 years of age. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Some experience a burning sensation and report sensitive eyes for years. Vision is sometimes impaired. Autosomal dominant pattern of inheritance. | MONDO: Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision."
+BMGC_DS11256,BMG_DS039578,MONDO: A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
+BMGC_DS11257,BMG_DS039580,
+BMGC_DS11258,BMG_DS039581,
+BMGC_DS11259,BMG_DS039582,
+BMGC_DS11260,BMG_DS039583,"SNOMEDCT_US: A rare disorder of mineral absorption and transport characterised by hypocupraemia that manifests as failure to thrive, mild anaemia, repeated seizures, hypotonia and seborrhoeic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. | MONDO: Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982."
+BMGC_DS11261,BMG_DS039584,
+BMGC_DS11262,BMG_DS039585,MONDO: Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.
+BMGC_DS11263,BMG_DS039588,
+BMGC_DS11264,BMG_DS039589,
+BMGC_DS11265,BMG_DS039590,
+BMGC_DS11266,BMG_DS039593,"SNOMEDCT_US: A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner. | MONDO: Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner."
+BMGC_DS11267,BMG_DS039594,NCI: A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract. | MONDO: Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
+BMGC_DS11268,BMG_DS039595,"HPO: A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. [https://orcid.org/0000-0001-8727-6592, PMID:15069441] | MONDO: Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders."
+BMGC_DS11269,BMG_DS039596,MONDO: Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.
+BMGC_DS11270,BMG_DS039598,
+BMGC_DS11271,BMG_DS039599,"MONDO: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene. | MeSH: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)"
+BMGC_DS11272,BMG_DS039600,"NCI: An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC1 gene, encoding DNA excision repair protein ERCC-1. | MONDO: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene."
+BMGC_DS11273,BMG_DS039601,MONDO: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.
+BMGC_DS11274,BMG_DS039602,
+BMGC_DS11275,BMG_DS039604,MONDO: A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.
+BMGC_DS11276,BMG_DS039605,NCI: A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections.
+BMGC_DS11277,BMG_DS039606,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the SOS1 gene, encoding son of sevenless homolog 1. | MONDO: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene."
+BMGC_DS11278,BMG_DS039607,MONDO: Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.
+BMGC_DS11279,BMG_DS039608,"ORPHANET: A form of neutral lipid storage disease characterized by adult onset of slowly progressive muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes."
+BMGC_DS11280,BMG_DS039609,"MONDO: Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common."
+BMGC_DS11281,BMG_DS039610,
+BMGC_DS11282,BMG_DS039612,"SNOMEDCT_US: A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. | MONDO: Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome."
+BMGC_DS11283,BMG_DS039613,"NCI: A subtype of age-related macular degeneration associated with mutation(s) in the CFH gene, encoding complement factor H. | MONDO: Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene."
+BMGC_DS11284,BMG_DS039614,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
+BMGC_DS11285,BMG_DS039615,MONDO: Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.
+BMGC_DS11286,BMG_DS039617,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.
+BMGC_DS11287,BMG_DS039620,HPO: Infections of the skin that happen multiple times. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS11288,BMG_DS039624,"NCI: An autosomal recessive condition caused by mutation(s) in the CLCF1 gene, encoding cardiotrophin-like cytokine factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy. It is clinically indistinguishable from Crisponi/cold-induced sweating syndrome-1. | MONDO: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene."
+BMGC_DS11289,BMG_DS039625,MONDO: Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene.
+BMGC_DS11290,BMG_DS039627,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.
+BMGC_DS11291,BMG_DS039628,"SNOMEDCT_US: A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism."
+BMGC_DS11292,BMG_DS039629,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.
+BMGC_DS11293,BMG_DS039633,"ORPHANET: A rare developmental defect during embryogenesis characterised by an absence of the lens. CPAK can be associated with variable secondary ocular defects. | MONDO: Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents."
+BMGC_DS11294,BMG_DS039634,"HPO: A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. [https://orcid.org/0000-0002-0736-9199] | MONDO: A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea."
+BMGC_DS11295,BMG_DS039635,"SNOMEDCT_US: A type of hereditary spastic paraplegia with usual characteristics of pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (more than 30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. | MONDO: A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense."
+BMGC_DS11296,BMG_DS039636,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.
+BMGC_DS11297,BMG_DS039637,"SNOMEDCT_US: Spinocerebellar ataxia type 28 (SCA28) is very rare with main features of juvenile onset and slowly progressive cerebellar ataxia due to Purkinje cell degeneration. The mean age of symptom onset was 19.5 years in the original kindred. Some patients show cognitive impairment. In more advanced stages of the disorder, ophthalmoparesis, slowed saccades, ptosis and pyramidal signs are reported. SCA28 is caused by mutations in the AFG3L2 gene located to chromosome 18p11.21. Inherited autosomal dominantly. | MONDO: Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration."
+BMGC_DS11298,BMG_DS039638,"SNOMEDCT_US: A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years. Maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease. | MONDO: Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia."
+BMGC_DS11299,BMG_DS039639,MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.
+BMGC_DS11300,BMG_DS039642,"SNOMEDCT_US: A rare genetic epidermal disorder with characteristics of a chronic diffuse fine scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows) around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms. There is evidence the disease is caused by mutation in the ZNF750 gene."
+BMGC_DS11301,BMG_DS039643,"NCI: An autosomal recessive form of hypophosphatemic rickets caused by inactivating mutation(s) in the SLC34A3 gene, encoding sodium-dependent phosphate transport protein 2C, a protein involved in maintenance of inorganic phosphate concentration in the kidney. The condition is characterized by elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations, resulting in increased intestinal calcium absorption and hypercalciuria. This form of hypophosphatemic rickets is also distinguished by the lack of elevated fibroblast growth factor 23 (FGF23) concentrations. | MONDO: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia."
+BMGC_DS11302,BMG_DS039644,"NCI: An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss. | MONDO: An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss."
+BMGC_DS11303,BMG_DS039645,"MONDO: P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate."
+BMGC_DS11304,BMG_DS039646,MONDO: Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.
+BMGC_DS11305,BMG_DS039648,
+BMGC_DS11306,BMG_DS039649,"MONDO: Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. | MONDO: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene."
+BMGC_DS11307,BMG_DS039650,MONDO: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.
+BMGC_DS11308,BMG_DS039651,
+BMGC_DS11309,BMG_DS039652,
+BMGC_DS11310,BMG_DS039653,ORPHANET: A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. | MONDO: Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
+BMGC_DS11311,BMG_DS039656,
+BMGC_DS11312,BMG_DS039657,"NCI: Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. | MONDO: Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes."
+BMGC_DS11313,BMG_DS039658,"HPO: Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS11314,BMG_DS039659,
+BMGC_DS11315,BMG_DS039660,"SNOMEDCT_US: A very rare motor neuron disease with characteristics of progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence and subsequently, loss of motor speech production. Affected patients are usually normal at birth and have normal early development. During the second year of life, they lose the ability to walk (some patients never walk due to early severe spasticity) and then develop slowly progressive upper motor neuron disorders including pseudobulbar palsy and spastic quadriplegia. Other signs include clumsiness, muscle weakness and balance difficulties. Mutations in the ALS2 gene (2q33-q35) encoding alsin, a protein that is abundant in motor neurons, and less commonly mutations in the ERLIN2 gene (8p11.2) have been reported. Inherited in an autosomal recessive manner. | MONDO: Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production."
+BMGC_DS11316,BMG_DS039661,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.
+BMGC_DS11317,BMG_DS039662,
+BMGC_DS11318,BMG_DS039663,"NCI: An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PARK7 gene, encoding Parkinson disease protein 7. | MONDO: Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene."
+BMGC_DS11319,BMG_DS039664,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.
+BMGC_DS11320,BMG_DS039665,
+BMGC_DS11321,BMG_DS039666,
+BMGC_DS11322,BMG_DS039667,"SNOMEDCT_US: A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. | MONDO: A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene."
+BMGC_DS11323,BMG_DS039668,
+BMGC_DS11324,BMG_DS039669,MONDO: Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene.
+BMGC_DS11325,BMG_DS039670,
+BMGC_DS11326,BMG_DS039677,"ORPHANET: A rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. | MONDO: Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency."
+BMGC_DS11327,BMG_DS039680,ORPHANET: Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits. | MONDO: Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits.
+BMGC_DS11328,BMG_DS039682,"MONDO: Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients."
+BMGC_DS11329,BMG_DS039683,
+BMGC_DS11330,BMG_DS039684,
+BMGC_DS11331,BMG_DS039685,"ORPHANET: Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. | MONDO: A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch"
+BMGC_DS11332,BMG_DS039686,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy with the association of vocal cord anomalies, impairment of respiratory muscles, sensorineural hearing loss and weakness of hands and feet. Onset is between infancy and the sixth decade. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade."
+BMGC_DS11333,BMG_DS039687,"ORPHANET: Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings. | MONDO: Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction."
+BMGC_DS11334,BMG_DS039688,"SNOMEDCT_US: A form of rare hereditary hemochromatosis, a group of diseases characterized by excessive tissue iron deposition of genetic origin. Type 4 is less rare than the other rare forms of hereditary hemochromatosis. The disease is phenotypically heterogeneous with two sub-types. Ferroportin disease form A is the usual form and is generally asymptomatic with no tissue damage and further complications. Ferroportin disease form B is rarer and resembles hemochromatosis type 1, but can affect children. Ferroportin disease is due to mutations in the SLC40A1 gene located on chromosome 2, which encodes for ferroportin (FPN), an iron exporter negatively regulated by the hepcidin hormone. Transmission is autosomal dominant. | MONDO: A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC."
+BMGC_DS11335,BMG_DS039689,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation characterised by generalised hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinaemia with generalised oedema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). | MONDO: MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
+BMGC_DS11336,BMG_DS039690,
+BMGC_DS11337,BMG_DS039692,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.
+BMGC_DS11338,BMG_DS039693,"SNOMEDCT_US: A rare autosomal recessive cerebellar ataxia with characteristics of progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. This disease is mostly an adolescent onset disorder. Caused by mutations in SETX gene (9q34), encoding senataxin protein, a DNA/RNA helicase in nucleus which is implicated in DNA break repair. Mutations in the gene PIK3R5 (17p13.1) have also been implicated in the pathogenesis of this disease. Transmission is autosomal recessive. | MONDO: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level."
+BMGC_DS11339,BMG_DS039695,
+BMGC_DS11340,BMG_DS039696,"SNOMEDCT_US: Syndrome with characteristics of a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. | MONDO: Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36."
+BMGC_DS11341,BMG_DS039701,MONDO: A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3.
+BMGC_DS11342,BMG_DS039703,"NCI: An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PINK1 gene, encoding serine/threonine-protein kinase PINK1, mitochondrial. | MONDO: Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene."
+BMGC_DS11343,BMG_DS039704,
+BMGC_DS11344,BMG_DS039705,SNOMEDCT_US: An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. | MONDO: An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.
+BMGC_DS11345,BMG_DS039710,"MONDO: Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported."
+BMGC_DS11346,BMG_DS039711,
+BMGC_DS11347,BMG_DS039712,"NCI: An autosomal recessive condition caused by mutation(s) in the GNE gene, encoding bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. It is characterized by distal muscle weakness and atrophy, especially the tibialis anterior, and sparing of the quadriceps. | MONDO: Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
+BMGC_DS11348,BMG_DS039713,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.
+BMGC_DS11349,BMG_DS039714,"SNOMEDCT_US: Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidaemia, galactosaemia, hypoproteinaemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction and hypoglycaemia. | MONDO: Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia."
+BMGC_DS11350,BMG_DS039715,"MONDO: Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. | MeSH: A form of chorioretinitis characterized by multiple small, cream-colored LESIONS, symmetrically scattered mainly around the OPTIC DISK. These lesions are the most distinctive sign and often appear at the level of the RETINAL PIGMENT EPITHELIUM but, on occasion, suggest an even deeper infiltration and may ultimately lead to visual loss. An association with HLA-A29 antigen (see HLA-A ANTIGENS) has been observed in nearly all patients."
+BMGC_DS11351,BMG_DS039716,MONDO: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 17q25.3.
+BMGC_DS11352,BMG_DS039718,MONDO: An inherited susceptibility or predisposition to developing atopic dermatitis in which the cause of the disease is a mutation in the FLG gene.
+BMGC_DS11353,BMG_DS039720,
+BMGC_DS11354,BMG_DS039721,
+BMGC_DS11355,BMG_DS039725,MONDO: A cataract that has material basis in variation in the region 15q21-q22.
+BMGC_DS11356,BMG_DS039726,
+BMGC_DS11357,BMG_DS039727,"SNOMEDCT_US: A rare genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes. | MONDO: Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)."
+BMGC_DS11358,BMG_DS039728,"SNOMEDCT_US: A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13."
+BMGC_DS11359,BMG_DS039730,"SNOMEDCT_US: This syndrome has characteristics of wooly hair, palmoplantar keratoderma and dilated cardiomyopathy principally affecting the left ventricle. Only a few cases have been reported, all involving patients from Ecuador, India or Turkey. The wooly hair is present at birth and the palmoplantar keratoderma appears during the first year of life. The cardiac anomaly presents during childhood and is marked by dilation of the left ventricle accompanied by alterations in muscle contractility. The syndrome is transmitted as an autosomal recessive trait and is caused by mutations in the DSP gene (6p24) encoding desmoplakin, a protein involved in cell adhesion. The syndrome is similar to Naxos disease. | MONDO: A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features."
+BMGC_DS11360,BMG_DS039732,"SNOMEDCT_US: An inherited retinal dystrophy characterised by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularisation and glaucoma may occur in the late stages of the disease. | MONDO: Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease."
+BMGC_DS11361,BMG_DS039734,
+BMGC_DS11362,BMG_DS039735,"SNOMEDCT_US: A genetic cause of hypertension secondary to primary aldosteronism that is not suppressed with dexamethasone. Patients present with an adrenal adenoma that secretes aldosterone. | MONDO: Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism."
+BMGC_DS11363,BMG_DS039736,"MONDO: Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay."
+BMGC_DS11364,BMG_DS039738,
+BMGC_DS11365,BMG_DS039740,
+BMGC_DS11366,BMG_DS039741,"SNOMEDCT_US: An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Onset occurs in adulthood (between 26 and 42 years of age) with symmetric moderate to severe weakness of the distal muscles, predominantly affecting the lower extremities. Marked sensory deficits were also reported. Transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25). | MONDO: Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry."
+BMGC_DS11367,BMG_DS039742,"SNOMEDCT_US: An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. It has been described exclusively in families originating from North-Western Africa. Onset occurs in the second decade of life. The disease course and severity are variable, even between affected members of the same family. In general, the disease manifests as distal muscle weakness and atrophy that progress gradually to the proximal muscles. Caused by a p.R644C missense mutation in the lamin A/C protein (encoded by the LMNA gene, 1q22). Transmitted in an autosomal recessive manner. | MONDO: Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy."
+BMGC_DS11368,BMG_DS039743,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene.
+BMGC_DS11369,BMG_DS039744,MONDO: A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.
+BMGC_DS11370,BMG_DS039745,
+BMGC_DS11371,BMG_DS039746,MONDO: A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.
+BMGC_DS11372,BMG_DS039748,"NCI: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the SNCA gene, encoding alpha-synuclein. Mutation(s) in the SNCA gene are responsible for PARK1 and Lewy body dementia, and have overlapping phenotypes. | MONDO: A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22."
+BMGC_DS11373,BMG_DS039749,MONDO: An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.
+BMGC_DS11374,BMG_DS039752,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.
+BMGC_DS11375,BMG_DS039753,MONDO: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
+BMGC_DS11376,BMG_DS039754,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.
+BMGC_DS11377,BMG_DS039756,"SNOMEDCT_US: Disorder with characteristics of reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Prevalence is unknown but numerous large pedigrees with several affected members have been described. Both men and women are equally affected. Hair loss is diffuse and progressive and usually begins during early childhood. Body hair may also be sparse with variable involvement of the eyebrows, eyelashes, and pubic and axillary hair. There are no anomalies of the skin, nails or teeth. A scalp-limited form has also been reported with mutations in the corneodesmosin (CDSN) gene. Both autosomal dominant and recessive modes of transmission have been reported for this disorder. | MONDO: Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies."
+BMGC_DS11378,BMG_DS039757,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene.
+BMGC_DS11379,BMG_DS039758,MONDO: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.
+BMGC_DS11380,BMG_DS039759,MONDO: Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.
+BMGC_DS11381,BMG_DS039763,"MONDO: An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure."
+BMGC_DS11382,BMG_DS039764,"SNOMEDCT_US: A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years. In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). | MONDO: Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus."
+BMGC_DS11383,BMG_DS039765,ORPHANET: A type of nemaline myopathy (NM) only observed in several families of the Amish community. | MONDO: Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.
+BMGC_DS11384,BMG_DS039766,
+BMGC_DS11385,BMG_DS039768,"MONDO: An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23."
+BMGC_DS11386,BMG_DS039769,
+BMGC_DS11387,BMG_DS039770,MONDO: Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.
+BMGC_DS11388,BMG_DS039771,"SNOMEDCT_US: Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature. The disease-causing gene has not yet been identified but linkage analysis and recombination mapping have led to identification of a small interval on 10q23.2. Transmitted in an autosomal recessive manner. | MONDO: Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies."
+BMGC_DS11389,BMG_DS039772,NCI: Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). | MONDO: Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).
+BMGC_DS11390,BMG_DS039773,"SNOMEDCT_US: A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. | MONDO: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene."
+BMGC_DS11391,BMG_DS039774,"SNOMEDCT_US: A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene."
+BMGC_DS11392,BMG_DS039775,"NCI: Noonan syndrome caused by autosomal recessive mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1."
+BMGC_DS11393,BMG_DS039776,"SNOMEDCT_US: Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported. | MONDO: Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported."
+BMGC_DS11394,BMG_DS039777,"SNOMEDCT_US: A very rare disease with onset in childhood of marked delayed motor and cognitive development followed by mild progression of cerebellar ataxia. Prevalence is unknown. Fewer than 20 cases have been reported to date. Although primarily a cerebellar syndrome, dysphagia, urinary urgency and bradykinesia have been described in affected patients older than 50. Mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene. | MONDO: Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia."
+BMGC_DS11395,BMG_DS039778,"MeSH: Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2)."
+BMGC_DS11396,BMG_DS039779,"SNOMEDCT_US: A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. | MONDO: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28."
+BMGC_DS11397,BMG_DS039781,
+BMGC_DS11398,BMG_DS039782,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.
+BMGC_DS11399,BMG_DS039783,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back and seizures. There is evidence the disease is caused by heterozygous mutation in the MLL gene on chromosome 11q23. | MONDO: Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language."
+BMGC_DS11400,BMG_DS039784,"MONDO: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery."
+BMGC_DS11401,BMG_DS039786,
+BMGC_DS11402,BMG_DS039788,"SNOMEDCT_US: An autosomal recessive disorder that is the most severe, neonatally lethal form of arthrogryposis a disorder characterised by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. | MONDO: Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies."
+BMGC_DS11403,BMG_DS039789,"NCI: A rare variant of multiple pterygium syndrome, characterized by severe athrogryposis, pterygium, akinesia and often hydrops fetalis and cystic hygroma. This variant is fatal, usually during the second or third trimester of pregnancy. | MONDO: Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition."
+BMGC_DS11404,BMG_DS039795,"NCI: An autosomal recessive condition caused by mutation(s) in the GNPTAG gene, encoding N-acetylglucosamine-1-phosphotransferase subunit gamma. It is characterized by a slowing of the growth rate in childhood, joint stiffness, mild cognitive impairment, and cardiorespiratory insufficiency. | MONDO: A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency."
+BMGC_DS11405,BMG_DS039798,"NCI: An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by an increased risk of developing myelodysplastic syndrome and acute myelogenous leukemia."
+BMGC_DS11406,BMG_DS039799,
+BMGC_DS11407,BMG_DS039800,
+BMGC_DS11408,BMG_DS039801,
+BMGC_DS11409,BMG_DS039802,SNOMEDCT_US: A subtype of molybdenum cofactor deficiency caused by GPHN gene mutation. | MONDO: A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.
+BMGC_DS11410,BMG_DS039803,"ORPHANET: A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity."
+BMGC_DS11411,BMG_DS039805,"MONDO: Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973."
+BMGC_DS11412,BMG_DS039806,
+BMGC_DS11413,BMG_DS039808,MONDO: A microphthalmia that has material basis in variation in the chromosomal region 14q32.
+BMGC_DS11414,BMG_DS039809,
+BMGC_DS11415,BMG_DS039811,
+BMGC_DS11416,BMG_DS039813,"MONDO: Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation."
+BMGC_DS11417,BMG_DS039814,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe intrauterine growth retardation, profound microcephaly, dysmorphic craniofacial features (such as craniosynostosis and distinctive facial appearance with short palpebral fissures, broad and beaked nose, microstomia, micrognathia, low-set ears, and short neck), and variable malformations of the limbs, especially the arms. Cardiac, gastrointestinal, and genitourinary anomalies have also been reported. Brain imaging shows gray and white matter abnormalities and hypoplastic or absent corpus callosum. The disease is commonly fatal in the fetal to neonatal period due to respiratory failure."
+BMGC_DS11418,BMG_DS039815,"MONDO: A syndrome characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive."
+BMGC_DS11419,BMG_DS039816,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene.
+BMGC_DS11420,BMG_DS039818,"MONDO: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic."
+BMGC_DS11421,BMG_DS039820,"NCI: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. | MONDO: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial."
+BMGC_DS11422,BMG_DS039821,"NCI: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. | MONDO: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein."
+BMGC_DS11423,BMG_DS039822,"NCI: An autosomal recessive form of methylmalonic aciduria caused by mutation(s) in the MUT gene, encoding methylmalonyl-CoA mutase, mitochondrial. | MONDO: Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-."
+BMGC_DS11424,BMG_DS039823,
+BMGC_DS11425,BMG_DS039824,
+BMGC_DS11426,BMG_DS039825,HPO: Increased concentration of methylmalonic acid in the urine. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS11427,BMG_DS039826,"ORPHANET: 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). | MONDO: 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III)."
+BMGC_DS11428,BMG_DS039827,"MONDO: Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine."
+BMGC_DS11429,BMG_DS039828,
+BMGC_DS11430,BMG_DS039830,"MONDO: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive."
+BMGC_DS11431,BMG_DS039831,HPO: A polar cataract that affects the anterior pole of the lens. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS11432,BMG_DS039832,
+BMGC_DS11433,BMG_DS039833,
+BMGC_DS11434,BMG_DS039835,"ORPHANET: A rare neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. | MONDO: Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly."
+BMGC_DS11435,BMG_DS039837,
+BMGC_DS11436,BMG_DS039838,"MONDO: Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive."
+BMGC_DS11437,BMG_DS039841,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.
+BMGC_DS11438,BMG_DS039842,"MONDO: A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay."
+BMGC_DS11439,BMG_DS039843,
+BMGC_DS11440,BMG_DS039844,
+BMGC_DS11441,BMG_DS039846,"SNOMEDCT_US: A complex type of hereditary spastic paraplegia with onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (oromandibular dyskinesia, rigidity) and cerebellar (dysdiadochokinesia and incoordination) signs. Subtle abnormalities (for example developmental delay) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. | MONDO: Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging."
+BMGC_DS11442,BMG_DS039850,MONDO: A maple syrup urine disease caused by mutations in BCKDHA.
+BMGC_DS11443,BMG_DS039851,MONDO: A maple syrup urine disease caused by mutations in DBT.
+BMGC_DS11444,BMG_DS039855,"ORPHANET: Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal."
+BMGC_DS11445,BMG_DS039857,MONDO: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.
+BMGC_DS11446,BMG_DS039859,
+BMGC_DS11447,BMG_DS039860,"MONDO: Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy. | MeSH: A juvenile-onset macular dystrophy characterized by progressive loss of VISUAL ACUITY with normal acuity in peripheral VISUAL FIELDS. Other associated clinical features may include LIPOFUSCIN fundus autofluorescence, atrophy of the RETINAL PIGMENT EPITHELIUM, loss of color vision, PHOTOPHOBIA and PARACENTRAL SCOTOMA. Germline mutations in the ABCA4 gene have been identified in recessive and dominant diseases."
+BMGC_DS11448,BMG_DS039861,"ORPHANET: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities."
+BMGC_DS11449,BMG_DS039864,
+BMGC_DS11450,BMG_DS039865,
+BMGC_DS11451,BMG_DS039866,
+BMGC_DS11452,BMG_DS039868,
+BMGC_DS11453,BMG_DS039870,
+BMGC_DS11454,BMG_DS039871,"SNOMEDCT_US: A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterised by the association of hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. | MONDO: Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities."
+BMGC_DS11455,BMG_DS039872,NCI: A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. | MONDO: A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.
+BMGC_DS11456,BMG_DS039873,"SNOMEDCT_US: A rare genetic congenital limb malformation syndrome with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated."
+BMGC_DS11457,BMG_DS039874,"MONDO: Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet)."
+BMGC_DS11458,BMG_DS039876,"MONDO: A rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961."
+BMGC_DS11459,BMG_DS039877,
+BMGC_DS11460,BMG_DS039878,"MONDO: Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed."
+BMGC_DS11461,BMG_DS039879,"MONDO: Larsen-like syndrome, lethal type, is characterized by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out."
+BMGC_DS11462,BMG_DS039880,
+BMGC_DS11463,BMG_DS039881,
+BMGC_DS11464,BMG_DS039882,"SNOMEDCT_US: A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. | MONDO: Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit."
+BMGC_DS11465,BMG_DS039883,
+BMGC_DS11466,BMG_DS039884,"ORPHANET: Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction. | MONDO: Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction."
+BMGC_DS11467,BMG_DS039885,"ORPHANET: A very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. | MONDO: Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood."
+BMGC_DS11468,BMG_DS039886,"SNOMEDCT_US: A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene. | MONDO: Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase."
+BMGC_DS11469,BMG_DS039887,
+BMGC_DS11470,BMG_DS039890,"SNOMEDCT_US: Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterised by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait. | MONDO: Keutel syndrome is characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism."
+BMGC_DS11471,BMG_DS039892,"SNOMEDCT_US: A rare syndrome with characteristics of palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. The syndrome presents with severe and extensive skin manifestations. Severe, early-onset progressive periodontitis that affects both the deciduous and permanent dentitions and presents with gingival inflammation and alveolar bone destruction is a hallmark of the disease. Onychogryposis, arachnodactyly, acroosteolysis and pes planus are additional features that help to distinguish from other forms of palmoplantar hyperkeratosis. The syndrome is caused by germline mutations in the lysosomal protease cathepsin C (CTSC) gene mapped to chromosome 11q14.1-q14.3. It is transmitted as an autosomal recessive trait. | MONDO: Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis."
+BMGC_DS11472,BMG_DS039893,
+BMGC_DS11473,BMG_DS039894,
+BMGC_DS11474,BMG_DS039897,"NCI: An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. | MONDO: An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet."
+BMGC_DS11475,BMG_DS039898,"SNOMEDCT_US: Syndrome with characteristics of psychomotor retardation, microcephaly, up-slanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. Other anomalies can be present and include long thin hands and feet, ambiguous genitalia, hypertelorism. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the UBE3B gene (608047) on chromosome 12q24."
+BMGC_DS11476,BMG_DS039899,"SNOMEDCT_US: A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. Patient's present with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner. | MONDO: Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease."
+BMGC_DS11477,BMG_DS039900,"NCI: Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. | MONDO: Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure."
+BMGC_DS11478,BMG_DS039901,"SNOMEDCT_US: A rare multiple congenital anomalies syndrome usually characterised by microcephaly, ocular anomalies such as microphthalmia and apple peel intestinal atresia. Facial dysmorphism is reported in some cases and may include narrow or sloped forehead, hypertelorism, microphthalmia, dysplastic oedematous deep-set eyes, short palpebral fissures, large or low set ears, broad nasal root, anteverted or broad nasal tip, long philtrum, micrognathia, thin upper vermillion, large mouth and skin tag on the cheek. Motor delay and intellectual disability have been reported. Heart, brain, craniofacial abnormalities, renal hypoplasia and other anomalies (e.g. lower limb oedema, thrombocytopenia) are variably present. Rarely cases without intestinal atresia, microcephaly or developmental delay can be found. Severe lethal cases have also been reported. | MONDO: An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)."
+BMGC_DS11479,BMG_DS039902,
+BMGC_DS11480,BMG_DS039903,
+BMGC_DS11481,BMG_DS039904,MONDO: Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.
+BMGC_DS11482,BMG_DS039905,
+BMGC_DS11483,BMG_DS039906,ORPHANET: Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction. | MONDO: A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction.
+BMGC_DS11484,BMG_DS039907,
+BMGC_DS11485,BMG_DS039908,
+BMGC_DS11486,BMG_DS039909,
+BMGC_DS11487,BMG_DS039910,
+BMGC_DS11488,BMG_DS039911,"NCI: A very rare, autosomal recessive inherited condition caused by mutations in the SCN9A gene. It is characterized by a lack of the ability to perceive physical pain. | MONDO: A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)"
+BMGC_DS11489,BMG_DS039912,
+BMGC_DS11490,BMG_DS039915,"SNOMEDCT_US: A very rare and severe congenital multisystem disorder with the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Usually diagnosed in the first years of life. The phenotype is variable but the principal diagnostic features are almost always present at onset or evolve over time. Caused by mutations in the EPG5 gene (18q12.3) which encodes an important autophagy regulator, ectopic P-granules autophagy protein 5 (epg5). Formation of autolysosomes is specifically disturbed by an epg5 deficiency. | MONDO: A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency."
+BMGC_DS11491,BMG_DS039916,
+BMGC_DS11492,BMG_DS039917,"MONDO: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive."
+BMGC_DS11493,BMG_DS039918,"SNOMEDCT_US: An ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. | MONDO: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987."
+BMGC_DS11494,BMG_DS039919,"SNOMEDCT_US: A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive. | MONDO: Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life."
+BMGC_DS11495,BMG_DS039920,
+BMGC_DS11496,BMG_DS039921,"SNOMEDCT_US: A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively. | MONDO: Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases."
+BMGC_DS11497,BMG_DS039922,
+BMGC_DS11498,BMG_DS039925,"NCI: An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. It is characterized by congenital hypoparathyroidism, mental retardation, seizures and developmental delay. | MONDO: Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features."
+BMGC_DS11499,BMG_DS039927,"SNOMEDCT_US: A cranial malformation with characteristics of facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. An autosomal recessive mode of inheritance has been suggested. | MONDO: Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis."
+BMGC_DS11500,BMG_DS039928,MONDO: Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.
+BMGC_DS11501,BMG_DS039929,
+BMGC_DS11502,BMG_DS039930,
+BMGC_DS11503,BMG_DS039931,SNOMEDCT_US: Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely. | MONDO: This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.
+BMGC_DS11504,BMG_DS039932,"MONDO: Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves."
+BMGC_DS11505,BMG_DS039933,
+BMGC_DS11506,BMG_DS039934,
+BMGC_DS11507,BMG_DS039936,
+BMGC_DS11508,BMG_DS039937,
+BMGC_DS11509,BMG_DS039938,"ORPHANET: X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness."
+BMGC_DS11510,BMG_DS039939,"MONDO: Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993."
+BMGC_DS11511,BMG_DS039940,
+BMGC_DS11512,BMG_DS039941,"SNOMEDCT_US: A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. It has been described in three families. Craniofacial manifestations include wide anterior fontanelle, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears. Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. | MONDO: A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies."
+BMGC_DS11513,BMG_DS039943,"ORPHANET: A rare, congenital disorder of glycosylation-related bone disorder characterized by hypotonia, severe developmental delay, intellectual disability, seizures, increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and dysmorphic facial features. In some cases, cleft palate, megacolon, anorectal malformations, and congenital heart defects have been reported."
+BMGC_DS11514,BMG_DS039944,
+BMGC_DS11515,BMG_DS039945,"HPO: A severe form of hypermetropia with over +5.00 diopters. [HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0003-0986-4123]"
+BMGC_DS11516,BMG_DS039947,
+BMGC_DS11517,BMG_DS039948,
+BMGC_DS11518,BMG_DS039949,"HPO: The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. [https://orcid.org/0000-0002-8169-9049] | MONDO: Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient."
+BMGC_DS11519,BMG_DS039950,"HPO: An increase in the level of L-2-hydroxyglutaric acid in the urine. [https://orcid.org/0000-0001-5208-3432] | MONDO: L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy."
+BMGC_DS11520,BMG_DS039952,MONDO: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.
+BMGC_DS11521,BMG_DS039953,"SNOMEDCT_US: A multiple congenital anomalies syndrome described in two sisters and with the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. | MONDO: Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989."
+BMGC_DS11522,BMG_DS039955,"SNOMEDCT_US: A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells."
+BMGC_DS11523,BMG_DS039956,
+BMGC_DS11524,BMG_DS039957,MONDO: Autosomal recessive form of humeroradial synostosis (disease).
+BMGC_DS11525,BMG_DS039958,"NCI: An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. | MONDO: An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia."
+BMGC_DS11526,BMG_DS039960,ORPHANET: Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. | MONDO: Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.
+BMGC_DS11527,BMG_DS039961,"SNOMEDCT_US: An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. | MONDO: A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects."
+BMGC_DS11528,BMG_DS039962,"SNOMEDCT_US: A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. | MONDO: Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988."
+BMGC_DS11529,BMG_DS039963,
+BMGC_DS11530,BMG_DS039964,"MONDO: An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988."
+BMGC_DS11531,BMG_DS039965,"NCI: A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage). | MONDO: Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations."
+BMGC_DS11532,BMG_DS039966,"MONDO: Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins."
+BMGC_DS11533,BMG_DS039967,"MONDO: Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease."
+BMGC_DS11534,BMG_DS039969,
+BMGC_DS11535,BMG_DS039970,"ORPHANET: A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. | MONDO: Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterized by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure."
+BMGC_DS11536,BMG_DS039971,"ORPHANET: Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma. | MONDO: Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma."
+BMGC_DS11537,BMG_DS039972,"SNOMEDCT_US: This syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive. | MONDO: OBSOLETE. A peroxisoome biogenesis disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes."
+BMGC_DS11538,BMG_DS039973,"SNOMEDCT_US: A rare genetic congenital limb malformation disorder with characteristics of bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. | MONDO: Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980."
+BMGC_DS11539,BMG_DS039974,"MONDO: Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit."
+BMGC_DS11540,BMG_DS039975,"SNOMEDCT_US: Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. | MONDO: Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents."
+BMGC_DS11541,BMG_DS039977,
+BMGC_DS11542,BMG_DS039978,MONDO: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.
+BMGC_DS11543,BMG_DS039979,"NCI: An autosomal recessive form of chronic granulomatous disease caused by mutation(s) in the NCF1 gene, encoding neutrophil cytosol factor 1. | MONDO: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene."
+BMGC_DS11544,BMG_DS039980,
+BMGC_DS11545,BMG_DS039981,
+BMGC_DS11546,BMG_DS039982,
+BMGC_DS11547,BMG_DS039984,
+BMGC_DS11548,BMG_DS039985,
+BMGC_DS11549,BMG_DS039986,
+BMGC_DS11550,BMG_DS039987,
+BMGC_DS11551,BMG_DS039989,
+BMGC_DS11552,BMG_DS039990,
+BMGC_DS11553,BMG_DS039991,
+BMGC_DS11554,BMG_DS039994,"MONDO: Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms."
+BMGC_DS11555,BMG_DS039995,"MeSH: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1)."
+BMGC_DS11556,BMG_DS039996,"MeSH: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1)."
+BMGC_DS11557,BMG_DS039997,"MeSH: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1)."
+BMGC_DS11558,BMG_DS039998,"NCI: An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1. | MONDO: An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1."
+BMGC_DS11559,BMG_DS040001,
+BMGC_DS11560,BMG_DS040002,
+BMGC_DS11561,BMG_DS040003,SNOMEDCT_US: A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. | MONDO: Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
+BMGC_DS11562,BMG_DS040004,"SNOMEDCT_US: A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. | MONDO: Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies."
+BMGC_DS11563,BMG_DS040005,"MONDO: Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement."
+BMGC_DS11564,BMG_DS040009,"MONDO: Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported."
+BMGC_DS11565,BMG_DS040010,
+BMGC_DS11566,BMG_DS040012,MONDO: Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene.
+BMGC_DS11567,BMG_DS040014,
+BMGC_DS11568,BMG_DS040015,"NCI: Subnormal concentration of follicle stimulating hormone (FSH), associated with mutations in the FSHB gene, encoding follitropin subunit beta."
+BMGC_DS11569,BMG_DS040016,"SNOMEDCT_US: A rare retinal dystrophy with characteristics of diffuse bilateral white-yellow fleck-like lesions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. | MONDO: Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits."
+BMGC_DS11570,BMG_DS040017,
+BMGC_DS11571,BMG_DS040019,"SNOMEDCT_US: This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25). | MONDO: Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly."
+BMGC_DS11572,BMG_DS040020,SNOMEDCT_US: Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene.
+BMGC_DS11573,BMG_DS040023,"SNOMEDCT_US: A very rare malformation with main features of ectrodactyly of the hand and ipsilateral bifurcation of the femur. Approximately 200 cases have been reported worldwide. Congenital aplasia/hypoplasia of the tibia, accompanied by pre-axial oligodactyly or monodactyly of the feet, may also be present. In most cases, the bifurcation of the distal femur is unilateral. Patients are often small. Autosomal dominant and autosomal recessive modes of transmission have been suggested. | MONDO: Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur."
+BMGC_DS11574,BMG_DS040027,"SNOMEDCT_US: A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. It has been observed in 16 subjects from five distantly related sibships of a large Kuwaiti Bedouin tribe. The affected patients had no intellectual deficit. Transmitted as an autosomal recessive trait. | MONDO: Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum."
+BMGC_DS11575,BMG_DS040028,
+BMGC_DS11576,BMG_DS040029,SNOMEDCT_US: An inherited bleeding disorder caused by the reduction in activity and antigen levels of both factor V and factor VIII with manifestation of mild-to-moderate bleeding symptoms. Caused by mutations either in the LMAN1 gene (chromosome 18; q21) or in the MCFD2 gene (chromosome 2). Transmission is autosomal recessive. | MONDO: Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.
+BMGC_DS11577,BMG_DS040030,"SNOMEDCT_US: Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life. | MONDO: Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome."
+BMGC_DS11578,BMG_DS040031,
+BMGC_DS11579,BMG_DS040034,MONDO: A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.
+BMGC_DS11580,BMG_DS040035,"SNOMEDCT_US: A rare skin disorder characterised by erythrodermic peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhoea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. | MONDO: A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992."
+BMGC_DS11581,BMG_DS040036,"ORPHANET: A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging. | MONDO: A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging."
+BMGC_DS11582,BMG_DS040037,
+BMGC_DS11583,BMG_DS040039,
+BMGC_DS11584,BMG_DS040040,"MONDO: Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait."
+BMGC_DS11585,BMG_DS040041,"MONDO: Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications."
+BMGC_DS11586,BMG_DS040042,
+BMGC_DS11587,BMG_DS040043,
+BMGC_DS11588,BMG_DS040044,"NCI: An autosomal recessive condition caused by mutation(s), in the ITGA6 or ITGB4 genes, encoding integrin alpha-6 and integrin beta-4 respectively. It is characterized by junctional epidermolysis and pyloric stenosis/atresia."
+BMGC_DS11589,BMG_DS040047,
+BMGC_DS11590,BMG_DS040048,"ORPHANET: A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported."
+BMGC_DS11591,BMG_DS040050,"SNOMEDCT_US: A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner. | MONDO: Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death."
+BMGC_DS11592,BMG_DS040052,
+BMGC_DS11593,BMG_DS040055,
+BMGC_DS11594,BMG_DS040056,MONDO: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.
+BMGC_DS11595,BMG_DS040057,"MONDO: A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982."
+BMGC_DS11596,BMG_DS040058,"SNOMEDCT_US: Syndrome with the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. Appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). | MONDO: EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1)."
+BMGC_DS11597,BMG_DS040059,"ORPHANET: A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986. | MONDO: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive."
+BMGC_DS11598,BMG_DS040061,"MONDO: Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive."
+BMGC_DS11599,BMG_DS040062,"ORPHANET: Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy. | MONDO: A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy."
+BMGC_DS11600,BMG_DS040065,"NCI: An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting initially distal limbs and later the neck, orofacial, and craniocervical regions. | MONDO: Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet."
+BMGC_DS11601,BMG_DS040066,"SNOMEDCT_US: A rare genetic primary bone dysplasia and lethal form of neonatal short-limbed dwarfism, with characteristics of anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (for example joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. | MONDO: Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities."
+BMGC_DS11602,BMG_DS040068,"NCI: Dyskeratosis congenita caused by autosomal recessive mutation(s) in the NOP10 gene, encoding H/ACA ribonucleoprotein complex subunit 3. | MONDO: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14."
+BMGC_DS11603,BMG_DS040069,
+BMGC_DS11604,BMG_DS040070,
+BMGC_DS11605,BMG_DS040071,
+BMGC_DS11606,BMG_DS040072,
+BMGC_DS11607,BMG_DS040073,"SNOMEDCT_US: A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance. | MONDO: Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia."
+BMGC_DS11608,BMG_DS040077,MONDO: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
+BMGC_DS11609,BMG_DS040078,"ORPHANET: Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop. | MONDO: Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop."
+BMGC_DS11610,BMG_DS040079,"SNOMEDCT_US: Characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. Less than 10 cases have been reported to date. Defects in renal and intestinal glutamate and aspartate transport were also reported, suggesting that anomalies of the EAAC1 transporter, involved in the transport of these two amino acids, are the underlying cause of this syndrome. | MONDO: Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit."
+BMGC_DS11611,BMG_DS040080,
+BMGC_DS11612,BMG_DS040081,"ORPHANET: A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction. | MONDO: A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction."
+BMGC_DS11613,BMG_DS040082,"MONDO: Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common."
+BMGC_DS11614,BMG_DS040083,
+BMGC_DS11615,BMG_DS040084,
+BMGC_DS11616,BMG_DS040085,"MONDO: This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism."
+BMGC_DS11617,BMG_DS040088,SNOMEDCT_US: This syndrome is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. | MONDO: Dermatoleukodystrophy is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.
+BMGC_DS11618,BMG_DS040089,"ORPHANET: Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. | MONDO: A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities."
+BMGC_DS11619,BMG_DS040090,
+BMGC_DS11620,BMG_DS040091,SNOMEDCT_US: Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive. | MONDO: Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.
+BMGC_DS11621,BMG_DS040092,
+BMGC_DS11622,BMG_DS040093,
+BMGC_DS11623,BMG_DS040094,"SNOMEDCT_US: Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait. | MONDO: Deafness-small bowel diverticulosis-neuropathy syndrome is characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis)."
+BMGC_DS11624,BMG_DS040095,"MONDO: Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia."
+BMGC_DS11625,BMG_DS040096,"SNOMEDCT_US: A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. | MONDO: Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978."
+BMGC_DS11626,BMG_DS040097,
+BMGC_DS11627,BMG_DS040099,
+BMGC_DS11628,BMG_DS040100,"SNOMEDCT_US: An extremely rare genetic syndrome with clinical characteristics of split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. There is evidence this syndrome may be caused by homozygous mutation in the DLX5 gene on chromosome 7q21. | MONDO: Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit."
+BMGC_DS11629,BMG_DS040102,"SNOMEDCT_US: A syndromic disorder with the association between Dandy-Walker malformation and postaxial polydactyly as a major feature. The Dandy-Walker malformation has a variable expression and characteristics of a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. | MONDO: Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals."
+BMGC_DS11630,BMG_DS040104,"SNOMEDCT_US: A mitochondrial disease, a French Canadian form of Leigh syndrome, with characteristics of chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. It was first described in Saguenay-Lac-Saint-Jean (Quebec, Canada) in this region the prevalence of the gene mutation underlying the disorder is estimated to be 1/23 inhabitants and may be due to a founder effect. There are 3 forms of the disease corresponding to varying degrees of severity: a neonatal form, a classic form and a so-called survivor form. Survivor form describes those who have survived several episodes, cross a critical threshold and show less severe symptoms. Caused by two types of mutations in the LRPPRC gene (2p21). The disease follows a monogenic autosomal recessive pattern of inheritance. | MONDO: Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development."
+BMGC_DS11631,BMG_DS040105,
+BMGC_DS11632,BMG_DS040106,
+BMGC_DS11633,BMG_DS040108,"MONDO: A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. | MeSH: A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA."
+BMGC_DS11634,BMG_DS040109,"ORPHANET: A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others."
+BMGC_DS11635,BMG_DS040111,
+BMGC_DS11636,BMG_DS040113,
+BMGC_DS11637,BMG_DS040114,MONDO: Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.
+BMGC_DS11638,BMG_DS040115,
+BMGC_DS11639,BMG_DS040116,
+BMGC_DS11640,BMG_DS040118,"MONDO: A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose."
+BMGC_DS11641,BMG_DS040120,"MONDO: Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972."
+BMGC_DS11642,BMG_DS040123,"ORPHANET: A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus. | MONDO: Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus."
+BMGC_DS11643,BMG_DS040124,"SNOMEDCT_US: A very rare congenital genetic neurological disorder with characteristics of agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders and variable craniofacial and skeletal abnormalities. Most reported families have multiple cases of Temtamy syndrome and almost all affected individuals are from consanguineous unions. The main clinical findings are dysmorphic facies, hypotonia, moderate to severe intellectual disability, intractable seizures and autistic features such as absent language or stereotypy. Motor and cognitive delay usually manifests in early childhood. The pathogenesis of Temtamy syndrome is not known. Various mutations (homozygous, missense, compound heterozygous) in the C12orf57 gene (12p13.31) have been reported in affected patients. Follows an autosomal recessive pattern of inheritance. | MONDO: Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities."
+BMGC_DS11644,BMG_DS040125,
+BMGC_DS11645,BMG_DS040126,
+BMGC_DS11646,BMG_DS040128,
+BMGC_DS11647,BMG_DS040130,"ORPHANET: Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision. | MONDO: A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision."
+BMGC_DS11648,BMG_DS040132,"SNOMEDCT_US: A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. | MONDO: Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss."
+BMGC_DS11649,BMG_DS040133,MONDO: Any cornea plana in which the cause of the disease is a mutation in the KERA gene.
+BMGC_DS11650,BMG_DS040134,
+BMGC_DS11651,BMG_DS040135,"MONDO: Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988."
+BMGC_DS11652,BMG_DS040136,
+BMGC_DS11653,BMG_DS040139,"ORPHANET: A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). | MONDO: Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)."
+BMGC_DS11654,BMG_DS040140,
+BMGC_DS11655,BMG_DS040141,"MONDO: Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents."
+BMGC_DS11656,BMG_DS040143,"NCI: An autosomal recessive condition caused by mutation(s) in the CNGA3 gene, encoding cyclic nucleotide-gated cation channel subunit alpha-3. It is characterized by achromatopsia. | MONDO: Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms."
+BMGC_DS11657,BMG_DS040144,"MONDO: Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive."
+BMGC_DS11658,BMG_DS040145,ORPHANET: Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. | MONDO: Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules.
+BMGC_DS11659,BMG_DS040147,"SNOMEDCT_US: A very rare subtype of Joubert syndrome with the neurological features of Joubert Syndrome and congenital hepatic fibrosis. Prevalence is unknown. The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis but these are not mandatory features. Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1). | MONDO: A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability."
+BMGC_DS11660,BMG_DS040148,"ORPHANET: A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties. | MONDO: Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person."
+BMGC_DS11661,BMG_DS040149,"SNOMEDCT_US: A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. | MONDO: Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy."
+BMGC_DS11662,BMG_DS040150,
+BMGC_DS11663,BMG_DS040152,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS24 gene, encoding 40S ribosomal protein S24. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene."
+BMGC_DS11664,BMG_DS040154,"MONDO: Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. | MeSH: A form of hereditary angioedema that occurs in women and is precipitated or worsened by high ESTROGEN levels. It is associated with mutations in the gene for FACTOR XII that result in its increased activity."
+BMGC_DS11665,BMG_DS040155,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.
+BMGC_DS11666,BMG_DS040156,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.
+BMGC_DS11667,BMG_DS040157,
+BMGC_DS11668,BMG_DS040159,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.
+BMGC_DS11669,BMG_DS040160,
+BMGC_DS11670,BMG_DS040161,
+BMGC_DS11671,BMG_DS040162,"MeSH: A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2)."
+BMGC_DS11672,BMG_DS040163,"SNOMEDCT_US: A very rare severe form of PCH with prenatal onset, with characteristics of fetal onset of clonus or seizures-like activity persisting into infancy and microcephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. PCH5 is reported in 3 siblings to date. PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene. PCH5 transmission is autosomal recessive. | MONDO: Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5."
+BMGC_DS11673,BMG_DS040165,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.
+BMGC_DS11674,BMG_DS040166,"MONDO: A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others"
+BMGC_DS11675,BMG_DS040167,"NCI: An autosomal recessive subtype of 3-methylglutaconic aciduria caused by mutation(s) in the DNAJC19 gene, encoding mitochondrial import inner membrane translocase subunit TIM14. | MONDO: A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria."
+BMGC_DS11676,BMG_DS040168,"NCI: An autosomal dominant subtype of arrhythmogenic right ventricular dysplasia caused by mutation(s) in the DSG2 gene, encoding desmoglein-2. | MONDO: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene."
+BMGC_DS11677,BMG_DS040169,MONDO: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.
+BMGC_DS11678,BMG_DS040170,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.
+BMGC_DS11679,BMG_DS040171,MONDO: Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.
+BMGC_DS11680,BMG_DS040173,MONDO: Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.
+BMGC_DS11681,BMG_DS040174,
+BMGC_DS11682,BMG_DS040175,"SNOMEDCT_US: Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. | MONDO: MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34."
+BMGC_DS11683,BMG_DS040177,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.
+BMGC_DS11684,BMG_DS040178,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.
+BMGC_DS11685,BMG_DS040179,"NCI: An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness. | MONDO: An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness."
+BMGC_DS11686,BMG_DS040180,MONDO: Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.
+BMGC_DS11687,BMG_DS040181,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.
+BMGC_DS11688,BMG_DS040182,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.
+BMGC_DS11689,BMG_DS040184,"SNOMEDCT_US: A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. | MONDO: A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases."
+BMGC_DS11690,BMG_DS040187,"NCI: A rare chromosomal anomaly cause by partial duplication of small segment of chromosome 7 (7q11.23). It is characterized by a highly variable phenotype, typically including mild-moderate intellectual developmental delay, and delayed development of speech and motor skills. | MONDO: 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported."
+BMGC_DS11691,BMG_DS040188,MONDO: Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene.
+BMGC_DS11692,BMG_DS040190,MONDO: Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene.
+BMGC_DS11693,BMG_DS040193,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.
+BMGC_DS11694,BMG_DS040194,"SNOMEDCT_US: Proopiomelanocortin deficiency causes severe obesity beginning at an early age. Affected individuals also have low levels of adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. | MONDO: Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin."
+BMGC_DS11695,BMG_DS040195,"SNOMEDCT_US: A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. | MONDO: Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia."
+BMGC_DS11696,BMG_DS040196,
+BMGC_DS11697,BMG_DS040197,"ORPHANET: A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas | MONDO: Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma."
+BMGC_DS11698,BMG_DS040201,
+BMGC_DS11699,BMG_DS040202,MONDO: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.
+BMGC_DS11700,BMG_DS040203,"ORPHANET: NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. | MONDO: NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae."
+BMGC_DS11701,BMG_DS040204,MONDO: Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.
+BMGC_DS11702,BMG_DS040206,"ORPHANET: A rare, syndromic, benign, epidermal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy. | MONDO: Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual."
+BMGC_DS11703,BMG_DS040207,
+BMGC_DS11704,BMG_DS040208,MONDO: A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2.
+BMGC_DS11705,BMG_DS040209,"SNOMEDCT_US: Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. | MONDO: Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence."
+BMGC_DS11706,BMG_DS040210,
+BMGC_DS11707,BMG_DS040211,
+BMGC_DS11708,BMG_DS040212,"SNOMEDCT_US: An inherited retinal dystrophy with manifestation of severe congenital night blindness, progressive retinal dystrophy and nystagmus. Blindness is often complete by the age of 30 years."
+BMGC_DS11709,BMG_DS040214,"NCI: A rare autosomal dominant syndrome caused by mutations in the COL11A1 gene. It is characterized by an abnormal ocular vitreous architecture (beaded vitreous phenotype). Other signs and symptoms include retinal detachment, joint hypermobility, hearing loss, and midline clefting. | MONDO: Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)."
+BMGC_DS11710,BMG_DS040216,"SNOMEDCT_US: A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. The disease is caused by heterozygous mutation in the RTN2 gene on chromosome 19q13. | MONDO: Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus."
+BMGC_DS11711,BMG_DS040217,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.
+BMGC_DS11712,BMG_DS040218,"SNOMEDCT_US: A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. | MONDO: Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy."
+BMGC_DS11713,BMG_DS040219,
+BMGC_DS11714,BMG_DS040220,"SNOMEDCT_US: A rare genetic neuromuscular disorder characterised by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalised muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. | MONDO: Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation."
+BMGC_DS11715,BMG_DS040221,"MONDO: An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13."
+BMGC_DS11716,BMG_DS040223,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.
+BMGC_DS11717,BMG_DS040224,"SNOMEDCT_US: A form of syndromic craniosynostosis with characteristics of highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies has also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. | MONDO: A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal."
+BMGC_DS11718,BMG_DS040225,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.
+BMGC_DS11719,BMG_DS040229,"SNOMEDCT_US: A very rare, primary genetic immunodeficiency disorder with characteristic of partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. | MONDO: Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections."
+BMGC_DS11720,BMG_DS040230,"SNOMEDCT_US: Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. Clinically and pathologically very similar to Charcot-Marie-Tooth type 4B1 with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. However, in addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma. Caused by mutations in the MTMR13/SBF2 gene encoding a protein involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. | MONDO: Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported."
+BMGC_DS11721,BMG_DS040231,
+BMGC_DS11722,BMG_DS040233,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene.
+BMGC_DS11723,BMG_DS040234,SNOMEDCT_US: A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive. | MONDO: Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
+BMGC_DS11724,BMG_DS040235,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3.
+BMGC_DS11725,BMG_DS040237,"MONDO: An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease."
+BMGC_DS11726,BMG_DS040238,"SNOMEDCT_US: An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. | MONDO: Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic."
+BMGC_DS11727,BMG_DS040240,"SNOMEDCT_US: Disease with characteristics of early-onset cerebellar signs, eye movement abnormalities and pyramidal signs. Fifty-one clinically affected members from four families (of British, Pakistani, German and French descent) have been reported to date. The disease presents with the cerebellar signs such as dysarthria and progressive ataxia, eventually leading to difficulty walking and loss of balance as well as eye movement abnormalities (jerky pursuit, horizontal and vertical nystagmus and ophthalmoplegia). Caused by mutations in the tau tubulin kinase 2 TTBK2 gene (15q15.2). Inherited in autosomal dominant pattern. | MONDO: Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs."
+BMGC_DS11728,BMG_DS040242,"NCI: An autoinflammatory disease caused by mutations in the PSTPIP1 gene. It is characterized by episodes of destructive arthritis, ulcerative skin lesions and cystic acne. | MONDO: A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin."
+BMGC_DS11729,BMG_DS040243,MONDO: An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.
+BMGC_DS11730,BMG_DS040244,"NCI: An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the TMEM43 gene on chromosome 3p25, encoding transmembrane protein 43. It is characterized by ventricular ectopy, left ventricular dilation, heart failure, and early death. | MONDO: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene."
+BMGC_DS11731,BMG_DS040245,MONDO: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.
+BMGC_DS11732,BMG_DS040246,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene.
+BMGC_DS11733,BMG_DS040247,"ORPHANET: A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ataxia, oculomotor apraxia, and other cerebellar symptoms. There is an increased frequency of spontaneous chromosomal aberrations, as well as hypersensitivity to ionizing radiation, while telangiectasia is absent. | MONDO: An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia."
+BMGC_DS11734,BMG_DS040248,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.
+BMGC_DS11735,BMG_DS040250,"MONDO: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant."
+BMGC_DS11736,BMG_DS040252,
+BMGC_DS11737,BMG_DS040253,"SNOMEDCT_US: A rare genetic epilepsy disorder with characteristics of autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietal-occipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. | MONDO: Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described."
+BMGC_DS11738,BMG_DS040255,"NCI: An autosomal recessive condition caused by mutation(s) in the SPG11 gene, encoding spatacsin. It is a complicated sub-type of hereditary spastic paraplegia that has varying neurologic manifestations in addition to spasticity. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene."
+BMGC_DS11739,BMG_DS040256,"MONDO: Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene."
+BMGC_DS11740,BMG_DS040257,SNOMEDCT_US: A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions. | MONDO: A very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions.
+BMGC_DS11741,BMG_DS040259,SNOMEDCT_US: Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5' end of the PPP2R2B gene on chromosome 5q31-5q32. | MONDO: Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.
+BMGC_DS11742,BMG_DS040260,MONDO: Acne that occurs in an adult.
+BMGC_DS11743,BMG_DS040261,
+BMGC_DS11744,BMG_DS040262,"ORPHANET: Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. | MONDO: Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features."
+BMGC_DS11745,BMG_DS040263,
+BMGC_DS11746,BMG_DS040266,
+BMGC_DS11747,BMG_DS040267,"MONDO: A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms."
+BMGC_DS11748,BMG_DS040268,"MONDO: Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio."
+BMGC_DS11749,BMG_DS040269,MONDO: Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.
+BMGC_DS11750,BMG_DS040271,MONDO: A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.
+BMGC_DS11751,BMG_DS040272,"NCI: An extremely rare syndrome characterized by the presence of gastrointestinal stromal tumors, pulmonary chondroma, and/or extra-adrenal paraganglioma. There is no evidence of familial inheritance. | MONDO: Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas."
+BMGC_DS11752,BMG_DS040273,"SNOMEDCT_US: Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy with characteristics of limb-girdle weakness, particularly of the pelvic girdle muscles. | MONDO: Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed."
+BMGC_DS11753,BMG_DS040274,"MONDO: Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone."
+BMGC_DS11754,BMG_DS040277,"SNOMEDCT_US: A form of rare hereditary haemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. Type 3 haemochromatosis concerns middle aged-adults but also adolescents and young adults. It presents with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. The disease is caused by mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. Transmission is autosomal recessive. | MONDO: Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin."
+BMGC_DS11755,BMG_DS040278,MONDO: A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11.
+BMGC_DS11756,BMG_DS040279,"MONDO: Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene."
+BMGC_DS11757,BMG_DS040280,
+BMGC_DS11758,BMG_DS040281,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.
+BMGC_DS11759,BMG_DS040282,MONDO: Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene.
+BMGC_DS11760,BMG_DS040283,"ORPHANET: A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies). | MONDO: A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has material basis in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern."
+BMGC_DS11761,BMG_DS040284,"SNOMEDCT_US: A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13."
+BMGC_DS11762,BMG_DS040287,"SNOMEDCT_US: A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. Caused by mutations in the KIF5A gene (12q13.13) encoding the protein kinesin heavy chain isoform 5A. | MONDO: Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case."
+BMGC_DS11763,BMG_DS040288,
+BMGC_DS11764,BMG_DS040289,"SNOMEDCT_US: A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. | MONDO: A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13."
+BMGC_DS11765,BMG_DS040291,MONDO: Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.
+BMGC_DS11766,BMG_DS040292,"ORPHANET: A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities of the eye; mildly dysmorphic facial features; and a hypo/demyelinating, symmetric, distal peripheral neuropathy. | MONDO: Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance."
+BMGC_DS11767,BMG_DS040294,"NCI: A subtype of dilated cardiomyopathy caused by mutation(s) in the TTN gene, encoding titin. | MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene."
+BMGC_DS11768,BMG_DS040295,
+BMGC_DS11769,BMG_DS040296,"SNOMEDCT_US: A diffuse palmoplantar keratoderma with manifestation of honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness.Follows an autosomal dominant mode of transmission. | MONDO: A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission."
+BMGC_DS11770,BMG_DS040297,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene.
+BMGC_DS11771,BMG_DS040298,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.
+BMGC_DS11772,BMG_DS040299,"ORPHANET: A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. | MONDO: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions."
+BMGC_DS11773,BMG_DS040300,MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.
+BMGC_DS11774,BMG_DS040301,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3.
+BMGC_DS11775,BMG_DS040304,"NCI: Autoimmune lymphoproliferative syndrome characterized by the presence of germline CASP10 mutation. | MONDO: A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma."
+BMGC_DS11776,BMG_DS040305,"SNOMEDCT_US: Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Prevalence of this form is not known. Presents with moderate to severe anemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. | MONDO: Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia."
+BMGC_DS11777,BMG_DS040306,"SNOMEDCT_US: Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. | MONDO: A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes \ | MeSH: Any of various diseases affecting the white matter of the central nervous system."
+BMGC_DS11778,BMG_DS040307,"SNOMEDCT_US: A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome. | MONDO: Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease."
+BMGC_DS11779,BMG_DS040308,"NCI: An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. | MONDO: An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death."
+BMGC_DS11780,BMG_DS040310,
+BMGC_DS11781,BMG_DS040311,"MONDO: Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971."
+BMGC_DS11782,BMG_DS040312,"SNOMEDCT_US: A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. | MONDO: Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981."
+BMGC_DS11783,BMG_DS040313,
+BMGC_DS11784,BMG_DS040314,
+BMGC_DS11785,BMG_DS040315,
+BMGC_DS11786,BMG_DS040316,
+BMGC_DS11787,BMG_DS040318,"SNOMEDCT_US: This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. | MONDO: This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities."
+BMGC_DS11788,BMG_DS040319,"SNOMEDCT_US: A very rare autosomal recessive and slowly progressive neurodegenerative disorder with the triad of cerebellar ataxia that generally manifests at adolescence or early adulthood, chorioretinal dystrophy which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). | MONDO: Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome."
+BMGC_DS11789,BMG_DS040320,"MONDO: Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion."
+BMGC_DS11790,BMG_DS040322,
+BMGC_DS11791,BMG_DS040324,"MONDO: A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause."
+BMGC_DS11792,BMG_DS040325,
+BMGC_DS11793,BMG_DS040326,"NCI: An autosomal recessive lethal condition caused by inactivating mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation. | MONDO: Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality."
+BMGC_DS11794,BMG_DS040329,"MONDO: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2."
+BMGC_DS11795,BMG_DS040330,"SNOMEDCT_US: Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation and progressive scoliosis. Considered the most frequent of all autosomal recessive forms of CMT. Onset usually occurs in infancy with distal muscle weakness and foot atrophy followed by proximal involvement and then distal weakness in the upper extremities and atrophy of the hands. Vocal cord paresis may also occur. CMT4A is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Transmitted in an autosomal recessive manner. | MONDO: Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities."
+BMGC_DS11796,BMG_DS040331,MONDO: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene.
+BMGC_DS11797,BMG_DS040333,"SNOMEDCT_US: A rare syndrome with characteristics of facial dysmorphism, intellectual deficit and costovertebral abnormalities. To date, 13 cases have been reported in the literature. Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophrys and a low hairline on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis."
+BMGC_DS11798,BMG_DS040335,
+BMGC_DS11799,BMG_DS040337,
+BMGC_DS11800,BMG_DS040338,"SNOMEDCT_US: In this disorder cerebellar ataxia is congenital (non-progressive) and characterised by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive. | MONDO: The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training."
+BMGC_DS11801,BMG_DS040339,"MONDO: A rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987."
+BMGC_DS11802,BMG_DS040340,
+BMGC_DS11803,BMG_DS040341,
+BMGC_DS11804,BMG_DS040342,"ORPHANET: Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term). | MONDO: Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome."
+BMGC_DS11805,BMG_DS040344,
+BMGC_DS11806,BMG_DS040345,
+BMGC_DS11807,BMG_DS040346,"SNOMEDCT_US: A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemi-vertebral anomalies) have occasionally been reported. Mild facial dysmorphism has been described in isolated cases. The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified. | MONDO: Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs."
+BMGC_DS11808,BMG_DS040347,
+BMGC_DS11809,BMG_DS040348,
+BMGC_DS11810,BMG_DS040350,MONDO: Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.
+BMGC_DS11811,BMG_DS040351,"ORPHANET: Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. | MONDO: Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum."
+BMGC_DS11812,BMG_DS040352,"SNOMEDCT_US: A mitochondrial disease with characteristics of cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. May present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Those who survive the neonatal period and infancy manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. In the majority of cases, mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The reported mutations are transmitted in an autosomal recessive manner. | MONDO: Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise."
+BMGC_DS11813,BMG_DS040353,
+BMGC_DS11814,BMG_DS040355,
+BMGC_DS11815,BMG_DS040356,
+BMGC_DS11816,BMG_DS040358,
+BMGC_DS11817,BMG_DS040359,
+BMGC_DS11818,BMG_DS040360,"SNOMEDCT_US: A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy."
+BMGC_DS11819,BMG_DS040361,
+BMGC_DS11820,BMG_DS040363,"SNOMEDCT_US: A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated. | MONDO: Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics."
+BMGC_DS11821,BMG_DS040365,"SNOMEDCT_US: The association of limb defects and multivisceral anomalies. The syndrome has been reported in eight infants from four different families. Skeletal features include tetramelic campomelia and short long bones. Extraskeletal manifestations may include cervical lymphocele, generalized hydrops, polycystic kidneys, pancreas and liver, fibrotic liver or pancreas, polysplenia, heterotaxia, hypoplastic lung, short bowel. All newborns reported so far were either stillborn or died shortly after birth. | MONDO: Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies."
+BMGC_DS11822,BMG_DS040366,"SNOMEDCT_US: A very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date. The disease has manifestations of adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet. | MONDO: Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints."
+BMGC_DS11823,BMG_DS040368,
+BMGC_DS11824,BMG_DS040371,"ORPHANET: A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet. | MONDO: Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet."
+BMGC_DS11825,BMG_DS040373,"MONDO: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive."
+BMGC_DS11826,BMG_DS040375,"MONDO: A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits."
+BMGC_DS11827,BMG_DS040376,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. | MONDO: Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970."
+BMGC_DS11828,BMG_DS040377,"NCI: An autosomal recessive condition caused by mutation (s) in the CYP4V2 gene, encoding cytochrome P450 4V2. It is characterized by multiple glistening intraretinal crystalline deposits scattered throughout the posterior pole associated with progressive atrophy of the retinal pigment epithelium and choroidal sclerosis. The crystalline deposits are also present in the corneal limbus in some individuals. | MONDO: Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness."
+BMGC_DS11829,BMG_DS040378,"SNOMEDCT_US: An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997. | MONDO: Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997."
+BMGC_DS11830,BMG_DS040379,MONDO: Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.
+BMGC_DS11831,BMG_DS040380,HPO: An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. [PMID:30823446]
+BMGC_DS11832,BMG_DS040381,
+BMGC_DS11833,BMG_DS040382,"SNOMEDCT_US: A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. | MONDO: Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984."
+BMGC_DS11834,BMG_DS040387,
+BMGC_DS11835,BMG_DS040388,
+BMGC_DS11836,BMG_DS040389,
+BMGC_DS11837,BMG_DS040390,
+BMGC_DS11838,BMG_DS040391,
+BMGC_DS11839,BMG_DS040392,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.
+BMGC_DS11840,BMG_DS040393,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene.
+BMGC_DS11841,BMG_DS040394,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene.
+BMGC_DS11842,BMG_DS040395,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.
+BMGC_DS11843,BMG_DS040396,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene.
+BMGC_DS11844,BMG_DS040397,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.
+BMGC_DS11845,BMG_DS040398,"MONDO: Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive."
+BMGC_DS11846,BMG_DS040399,"SNOMEDCT_US: The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. | MONDO: Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities."
+BMGC_DS11847,BMG_DS040400,
+BMGC_DS11848,BMG_DS040401,
+BMGC_DS11849,BMG_DS040402,"MONDO: A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994."
+BMGC_DS11850,BMG_DS040403,"SNOMEDCT_US: A rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed. | MONDO: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia."
+BMGC_DS11851,BMG_DS040405,
+BMGC_DS11852,BMG_DS040406,
+BMGC_DS11853,BMG_DS040407,
+BMGC_DS11854,BMG_DS040408,
+BMGC_DS11855,BMG_DS040409,"SNOMEDCT_US: A rare genetic rheumatologic disease with characteristics of congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. There is evidence the disease can be caused by homozygous mutation in the proteoglycan-4 gene (PRG4) on chromosome 1q31. | MONDO: Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis."
+BMGC_DS11856,BMG_DS040411,"ORPHANET: A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. | MONDO: Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested."
+BMGC_DS11857,BMG_DS040412,"SNOMEDCT_US: An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993. | MONDO: Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993."
+BMGC_DS11858,BMG_DS040413,"SNOMEDCT_US: An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life. | MONDO: Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence."
+BMGC_DS11859,BMG_DS040414,SNOMEDCT_US: A form of arthrogryposis multiplex congenital characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy.
+BMGC_DS11860,BMG_DS040415,MONDO: Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
+BMGC_DS11861,BMG_DS040418,
+BMGC_DS11862,BMG_DS040419,"ORPHANET: A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. | MONDO: Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries."
+BMGC_DS11863,BMG_DS040420,"ORPHANET: A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension. | MONDO: Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries."
+BMGC_DS11864,BMG_DS040421,
+BMGC_DS11865,BMG_DS040422,"MONDO: Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986."
+BMGC_DS11866,BMG_DS040423,"MONDO: Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985."
+BMGC_DS11867,BMG_DS040425,
+BMGC_DS11868,BMG_DS040426,
+BMGC_DS11869,BMG_DS040428,"ORPHANET: A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. | MONDO: Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula."
+BMGC_DS11870,BMG_DS040429,
+BMGC_DS11871,BMG_DS040430,"MONDO: Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974."
+BMGC_DS11872,BMG_DS040431,
+BMGC_DS11873,BMG_DS040432,"SNOMEDCT_US: A rare genetic subcutaneous tissue disorder with the presence of benign usually multiple subcutaneous tumours. The tumours are composed of adipose tissue and blood vessels typically manifesting as yellow firm circumscribed 1-4 cm in diameter tumours located in the arms, legs and trunk with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures) in several members of a single family. Tumours may be tender or mildly painful when palpated and do not regress spontaneously. | MONDO: Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously."
+BMGC_DS11874,BMG_DS040433,
+BMGC_DS11875,BMG_DS040434,
+BMGC_DS11876,BMG_DS040436,
+BMGC_DS11877,BMG_DS040437,MONDO: A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.
+BMGC_DS11878,BMG_DS040438,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene.
+BMGC_DS11879,BMG_DS040439,
+BMGC_DS11880,BMG_DS040440,
+BMGC_DS11881,BMG_DS040441,"SNOMEDCT_US: A rare disorder of lysine and hydroxylysine metabolism characterised by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioural disorders, most commonly attention deficit hyperactivity disorder. Frequently individuals are completely without clinical phenotype. There is evidence the disease is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14."
+BMGC_DS11882,BMG_DS040442,
+BMGC_DS11883,BMG_DS040443,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.
+BMGC_DS11884,BMG_DS040444,
+BMGC_DS11885,BMG_DS040445,"MONDO: The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body."
+BMGC_DS11886,BMG_DS040446,
+BMGC_DS11887,BMG_DS040447,"SNOMEDCT_US: A very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. It has been described in two siblings. Both brother and sister had psychomotor retardation and died in the course of a respiratory infection. The reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessive trait. | MONDO: Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe."
+BMGC_DS11888,BMG_DS040448,MONDO: Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.
+BMGC_DS11889,BMG_DS040450,"NCI: Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the ELANE gene, encoding neutrophil elastase"
+BMGC_DS11890,BMG_DS040452,HPO: Congenital defect with failure of the development of the cerebral white matter. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS11891,BMG_DS040453,
+BMGC_DS11892,BMG_DS040454,
+BMGC_DS11893,BMG_DS040455,MONDO: An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome.
+BMGC_DS11894,BMG_DS040456,
+BMGC_DS11895,BMG_DS040457,
+BMGC_DS11896,BMG_DS040458,
+BMGC_DS11897,BMG_DS040459,"SNOMEDCT_US: A unique form of congenital adrenal hyperplasia characterised by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. Prenatal androgen excess is responsible for severe virilisation of external genitalia in girls and undervirilisation in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears. The disease follows an autosomal recessive pattern of inheritance. | MONDO: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. | MeSH: An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)."
+BMGC_DS11898,BMG_DS040460,
+BMGC_DS11899,BMG_DS040461,"SNOMEDCT_US: A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration. | MONDO: A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies."
+BMGC_DS11900,BMG_DS040462,"SNOMEDCT_US: A multiple malformation syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the central nervous system, urogenital tract, heart, and lungs. The mandibulofacial defect causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. | MONDO: Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth."
+BMGC_DS11901,BMG_DS040464,"SNOMEDCT_US: Syndrome that is characterised by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. | MONDO: Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment."
+BMGC_DS11902,BMG_DS040465,"SNOMEDCT_US: A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. | MONDO: Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested."
+BMGC_DS11903,BMG_DS040466,"SNOMEDCT_US: Ackerman syndrome has characteristics of pyramidal molar roots and taurodontism associated with variable anomalies. It has been described in two generations of one family. Both parents and their six siblings had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. | MONDO: Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers."
+BMGC_DS11904,BMG_DS040467,"SNOMEDCT_US: An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterised by the classical signs of T-B- SCID (severe and recurrent infections, diarrhoea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. | MONDO: Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity."
+BMGC_DS11905,BMG_DS040468,"SNOMEDCT_US: An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood. | MONDO: Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed."
+BMGC_DS11906,BMG_DS040469,MONDO: An instance of achalsia that is caused by an inherited genomic modification in an individual.
+BMGC_DS11907,BMG_DS040470,"MONDO: This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy."
+BMGC_DS11908,BMG_DS040471,"SNOMEDCT_US: An extremely rare multiple congenital malformation syndrome with the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay in two thirds of cases. Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. | MONDO: Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome."
+BMGC_DS11909,BMG_DS040472,
+BMGC_DS11910,BMG_DS040474,
+BMGC_DS11911,BMG_DS040475,
+BMGC_DS11912,BMG_DS040476,
+BMGC_DS11913,BMG_DS040477,"SNOMEDCT_US: DYT4 type primary dystonia has characteristics of predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). So far, the disease has been reported in one large Australian family. The age of onset varies from 13 to 37 years. The locus for DYT4 remains unknown. The disease is transmitted in an autosomal dominant manner."
+BMGC_DS11914,BMG_DS040478,NCI: Waardenburg syndrome Type 2 caused by mutations in the MITF gene. | MONDO: Waardenburg syndrome Type 2 caused by mutations in the MITF gene.
+BMGC_DS11915,BMG_DS040480,"SNOMEDCT_US: A rare hereditary disorder with the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. | MONDO: Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983."
+BMGC_DS11916,BMG_DS040481,"HPO: The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. [HPO_CONTRIBUTOR:DDD_ncarter, PMID:18179896] | MONDO: Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36."
+BMGC_DS11917,BMG_DS040482,
+BMGC_DS11918,BMG_DS040483,
+BMGC_DS11919,BMG_DS040484,MONDO: Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
+BMGC_DS11920,BMG_DS040485,
+BMGC_DS11921,BMG_DS040486,"MONDO: This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence."
+BMGC_DS11922,BMG_DS040488,"SNOMEDCT_US: An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. | MONDO: An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction."
+BMGC_DS11923,BMG_DS040489,"MONDO: Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis."
+BMGC_DS11924,BMG_DS040492,
+BMGC_DS11925,BMG_DS040493,
+BMGC_DS11926,BMG_DS040495,"SNOMEDCT_US: Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. | MONDO: Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant."
+BMGC_DS11927,BMG_DS040496,
+BMGC_DS11928,BMG_DS040498,"ORPHANET: Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. | MONDO: Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga."
+BMGC_DS11929,BMG_DS040500,
+BMGC_DS11930,BMG_DS040502,NCI: Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). | MONDO: Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).
+BMGC_DS11931,BMG_DS040503,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TNNI3 gene, encoding troponin I, cardiac muscle. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene."
+BMGC_DS11932,BMG_DS040504,"SNOMEDCT_US: An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. | MONDO: Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus."
+BMGC_DS11933,BMG_DS040505,
+BMGC_DS11934,BMG_DS040506,
+BMGC_DS11935,BMG_DS040507,"SNOMEDCT_US: This syndrome has characteristics of triphalangeal thumbs and brachydactyly of the hands. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. | MONDO: Triphalangeal thumbs-brachyectrodactyly syndrome is characterized by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant."
+BMGC_DS11936,BMG_DS040508,"SNOMEDCT_US: Syndrome with characteristics of triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. | MONDO: Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters."
+BMGC_DS11937,BMG_DS040509,
+BMGC_DS11938,BMG_DS040510,"NCI: An autosomal recessive condition caused by mutation(s) in the TPI1 gene, encoding triosephosphate isomerase. It is characterized by congenital hemolytic anemia and progressive neuromuscular dysfunction. | MONDO: Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration."
+BMGC_DS11939,BMG_DS040511,
+BMGC_DS11940,BMG_DS040512,
+BMGC_DS11941,BMG_DS040514,"MONDO: OBSOLETE. A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature."
+BMGC_DS11942,BMG_DS040517,"ORPHANET: A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or &lt;i&gt;FLCN&lt;/i&gt; gene locus mutation. | MONDO: A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation."
+BMGC_DS11943,BMG_DS040518,"SNOMEDCT_US: A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976."
+BMGC_DS11944,BMG_DS040519,MONDO: Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.
+BMGC_DS11945,BMG_DS040520,
+BMGC_DS11946,BMG_DS040521,MONDO: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.
+BMGC_DS11947,BMG_DS040522,"HPO: Involuntary and irregular twitches of the chin. [https://orcid.org/0000-0002-0736-9199, PMID:16816905] | MONDO: Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip."
+BMGC_DS11948,BMG_DS040523,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the KRAS gene, encoding GTPase KRas. | MONDO: Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene."
+BMGC_DS11949,BMG_DS040524,
+BMGC_DS11950,BMG_DS040526,
+BMGC_DS11951,BMG_DS040527,
+BMGC_DS11952,BMG_DS040528,
+BMGC_DS11953,BMG_DS040529,
+BMGC_DS11954,BMG_DS040530,
+BMGC_DS11955,BMG_DS040531,MONDO: An inherited susceptibility or predisposition to developing nicotine dependence.
+BMGC_DS11956,BMG_DS040532,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.
+BMGC_DS11957,BMG_DS040533,
+BMGC_DS11958,BMG_DS040534,"MONDO: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones."
+BMGC_DS11959,BMG_DS040535,
+BMGC_DS11960,BMG_DS040536,
+BMGC_DS11961,BMG_DS040537,"SNOMEDCT_US: A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23)."
+BMGC_DS11962,BMG_DS040541,"MONDO: Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case."
+BMGC_DS11963,BMG_DS040542,"SNOMEDCT_US: A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. | MONDO: A rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988."
+BMGC_DS11964,BMG_DS040543,MONDO: A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.
+BMGC_DS11965,BMG_DS040544,MONDO: Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. | MeSH: Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream.
+BMGC_DS11966,BMG_DS040545,"NCI: An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability. | MONDO: An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability."
+BMGC_DS11967,BMG_DS040546,"NCI: An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function. | MONDO: An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function."
+BMGC_DS11968,BMG_DS040547,
+BMGC_DS11969,BMG_DS040549,"SNOMEDCT_US: A short-rib dysplasia with characteristics of thoracic dystrophy, laryngeal stenosis and a small pelvis. Less than 10 cases have been reported in the literature so far. Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. Transmission is autosomal dominant. | MONDO: A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis."
+BMGC_DS11970,BMG_DS040550,
+BMGC_DS11971,BMG_DS040552,
+BMGC_DS11972,BMG_DS040553,"SNOMEDCT_US: A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. | MONDO: Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992."
+BMGC_DS11973,BMG_DS040554,
+BMGC_DS11974,BMG_DS040555,
+BMGC_DS11975,BMG_DS040556,
+BMGC_DS11976,BMG_DS040557,"ORPHANET: A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal."
+BMGC_DS11977,BMG_DS040559,
+BMGC_DS11978,BMG_DS040565,
+BMGC_DS11979,BMG_DS040566,
+BMGC_DS11980,BMG_DS040568,
+BMGC_DS11981,BMG_DS040569,
+BMGC_DS11982,BMG_DS040570,
+BMGC_DS11983,BMG_DS040571,"ORPHANET: Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. | MONDO: Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges."
+BMGC_DS11984,BMG_DS040573,"SNOMEDCT_US: Syndrome with abnormal development of the arms resulting in characteristic arm malformations that can vary in severity. Bones in the elbows are abnormally shaped which affects mobility of the joints. Wrist bones are fused forming structures that resemble those in the ankles and heels and causing permanent radial deviation. The metacarpals are longer than normal along with brachydactyly. Life expectancy is normal. The syndrome is caused by genetic changes near the PITX1 gene. Inherited in an autosomal dominant pattern. | MONDO: Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibility to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported."
+BMGC_DS11985,BMG_DS040575,
+BMGC_DS11986,BMG_DS040576,"SNOMEDCT_US: A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait. | MONDO: Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits."
+BMGC_DS11987,BMG_DS040577,"SNOMEDCT_US: A very rare congenital distal limb malformation with characteristics of complete bilateral syndactyly involving all digits 1 to 5. So far, only four reports have been described in the literature. A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The SD4 locus maps to 7q36. The condition is inherited as an autosomal dominant trait. | MONDO: A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5)."
+BMGC_DS11988,BMG_DS040578,"SNOMEDCT_US: A rare congenital distal limb malformation with complete and bilateral syndactyly between the fourth and fifth fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The feet are not affected. Inherited in an autosomal dominant manner. | MONDO: Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers."
+BMGC_DS11989,BMG_DS040580,"SNOMEDCT_US: A distal limb malformation with manifestation of complete or partial webbing between the third and fourth fingers and/or the second and third toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Inherited as an autosomal dominant trait. | MONDO: Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes."
+BMGC_DS11990,BMG_DS040581,"SNOMEDCT_US: A very rare genetic bone disorder with characteristics of ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. | MONDO: Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients."
+BMGC_DS11991,BMG_DS040583,MONDO: Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.
+BMGC_DS11992,BMG_DS040584,
+BMGC_DS11993,BMG_DS040586,
+BMGC_DS11994,BMG_DS040588,
+BMGC_DS11995,BMG_DS040590,
+BMGC_DS11996,BMG_DS040592,
+BMGC_DS11997,BMG_DS040594,"ORPHANET: Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. | MONDO: Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait."
+BMGC_DS11998,BMG_DS040596,"MONDO: A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade."
+BMGC_DS11999,BMG_DS040598,"SNOMEDCT_US: A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex. | MONDO: Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia."
+BMGC_DS12000,BMG_DS040599,"NCI: A rare, autosomal dominant inherited syndrome caused by mutations in the FBN1 gene. It is characterized by hard and thickened skin, usually over the entire body, and limited joint motility. | MONDO: A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy."
+BMGC_DS12001,BMG_DS040600,"ORPHANET: A rare stiff person syndrome spectrum disorder characterized by limb and truncal rigidity, stimulus-sensitive spasms, myoclonus, hyperekplexia, autonomic disturbance, and brainstem involvement or other neurological defects. The condition is progressive and potentially life-threatening, especially due to respiratory failure. It may be associated with the presence of glycine receptor or glutamic acid decarboxylase antibodies, as well as thymomas or lymphomas."
+BMGC_DS12002,BMG_DS040601,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21."
+BMGC_DS12003,BMG_DS040603,
+BMGC_DS12004,BMG_DS040604,"SNOMEDCT_US: Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant. | MONDO: Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant."
+BMGC_DS12005,BMG_DS040605,MONDO: An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome.
+BMGC_DS12006,BMG_DS040606,SNOMEDCT_US: A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. | MONDO: Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
+BMGC_DS12007,BMG_DS040608,"SNOMEDCT_US: An ectodermal dysplasia syndrome with the association of abnormalities of the eyelids, lips, and teeth. These anomalies include lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly. Prevalence is unknown. Over 50 cases have been described in literature to date. Transmission is autosomal dominant with 100% penetrance. | MONDO: An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth."
+BMGC_DS12008,BMG_DS040609,NCI: Cleft lip with or without cleft palate mapped to chromosome 6p24. | MONDO: Cleft lip with or without cleft palate mapped to chromosome 6p24.
+BMGC_DS12009,BMG_DS040610,
+BMGC_DS12010,BMG_DS040611,MONDO: Cirrhosis in which no causative agent can be identified.
+BMGC_DS12011,BMG_DS040614,
+BMGC_DS12012,BMG_DS040615,
+BMGC_DS12013,BMG_DS040622,"MONDO: A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease."
+BMGC_DS12014,BMG_DS040624,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor."
+BMGC_DS12015,BMG_DS040625,MONDO: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.
+BMGC_DS12016,BMG_DS040626,HPO: Dysplasia of the cervical vertebral column. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS12017,BMG_DS040627,
+BMGC_DS12018,BMG_DS040628,
+BMGC_DS12019,BMG_DS040629,
+BMGC_DS12020,BMG_DS040631,"SNOMEDCT_US: Spinocerebellar ataxia type 29 (SCA29) is a rare disease with main features of very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. SCA29 presents at birth, or shortly, after with manifestations of very slowly progressive or non-progressive gait and limb ataxia causing delayed walking and frequent falling in children. Mild developmental delay, learning difficulties, and language dysfunction are frequently reported. Other manifestations include nystagmus, dysarthria, dysmetria, and dysdiadochokinesia. SCA29 is due to mutations in the ITPR1 gene (3p26.1), which is equally the causal gene of SCA15. Inherited autosomal dominantly. | MONDO: Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability."
+BMGC_DS12021,BMG_DS040632,"SNOMEDCT_US: A rare neurodegenerative disease with characteristics of progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves. Caused by mutation in the ITM2B gene. | MONDO: A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."
+BMGC_DS12022,BMG_DS040633,"SNOMEDCT_US: Spinocerebellar ataxia type 31 (SCA31) is a very rare disease with manifestation of late-onset of cerebral ataxia, dysarthria, and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense, and hearing difficulties. The mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. SCA31 is due to non-coding pentanucleotide repeat expansions in the brain expressed, associated with NEDD4, 1 (BEAN1) gene (16q21). Inherited autosomal dominantly with incomplete penetrance. | MONDO: Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties."
+BMGC_DS12023,BMG_DS040637,
+BMGC_DS12024,BMG_DS040638,"HPO: Compression of the celiac artery. [https://orcid.org/0000-0002-0736-9199] | MONDO: A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss. | MeSH: Compression of the CELIAC ARTERY by the median arcuate ligament, a fibrous band of the DIAPHRAGM, causing abdominal pain after eating and weight loss. OMIM: 116870"
+BMGC_DS12025,BMG_DS040639,
+BMGC_DS12026,BMG_DS040640,
+BMGC_DS12027,BMG_DS040642,"HPO: Zonular cataracts are defined to be cataracts that affect specific regions of the lens. [HPO_CONTRIBUTOR:vkumar, https://orcid.org/0000-0002-0736-9199, PMID:18035564]"
+BMGC_DS12028,BMG_DS040643,MONDO: Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene.
+BMGC_DS12029,BMG_DS040645,
+BMGC_DS12030,BMG_DS040646,MONDO: Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene.
+BMGC_DS12031,BMG_DS040647,"SNOMEDCT_US: The association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. The syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. There is marked genetic heterogeneity. Mutations have been described in several crystallin genes (CRYAA, CRYBB1, CRYGD), and in the gap junction protein alpha 8 gene (GJA8). | MONDO: Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism."
+BMGC_DS12032,BMG_DS040650,MONDO: A cataract that has material basis in variation in the region 1pter-p36.13.
+BMGC_DS12033,BMG_DS040652,
+BMGC_DS12034,BMG_DS040653,MONDO: Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.
+BMGC_DS12035,BMG_DS040655,MONDO: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.
+BMGC_DS12036,BMG_DS040656,"NCI: An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy. | MONDO: An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy."
+BMGC_DS12037,BMG_DS040657,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TPM1 gene, encoding tropomyosin alpha-1 chain. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene."
+BMGC_DS12038,BMG_DS040658,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TNNT2 gene, encoding troponin T, cardiac muscle. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene."
+BMGC_DS12039,BMG_DS040659,
+BMGC_DS12040,BMG_DS040660,
+BMGC_DS12041,BMG_DS040662,
+BMGC_DS12042,BMG_DS040663,
+BMGC_DS12043,BMG_DS040664,
+BMGC_DS12044,BMG_DS040665,
+BMGC_DS12045,BMG_DS040666,"MONDO: Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). | MeSH: A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene."
+BMGC_DS12046,BMG_DS040667,"MeSH: A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene."
+BMGC_DS12047,BMG_DS040668,"SNOMEDCT_US: An extremely rare brachydactyly syndrome with characteristics of short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. | MONDO: Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972."
+BMGC_DS12048,BMG_DS040669,"ORPHANET: A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed. | MONDO: Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin."
+BMGC_DS12049,BMG_DS040670,
+BMGC_DS12050,BMG_DS040671,
+BMGC_DS12051,BMG_DS040672,HPO: The presence of six or more cafe-au-lait spots. [https://orcid.org/0000-0003-1773-4011] | MONDO: A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.
+BMGC_DS12052,BMG_DS040675,
+BMGC_DS12053,BMG_DS040676,
+BMGC_DS12054,BMG_DS040681,"SNOMEDCT_US: A very rare malformation syndrome with characteristics of short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. | MONDO: Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants."
+BMGC_DS12055,BMG_DS040685,"MONDO: Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients."
+BMGC_DS12056,BMG_DS040686,"MONDO: Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females."
+BMGC_DS12057,BMG_DS040687,
+BMGC_DS12058,BMG_DS040688,MONDO: Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.
+BMGC_DS12059,BMG_DS040689,"ORPHANET: A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable."
+BMGC_DS12060,BMG_DS040690,"ORPHANET: A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands. | MONDO: Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene."
+BMGC_DS12061,BMG_DS040691,"SNOMEDCT_US: Manifestations of brachymesophalangy with mesomelic short limbs and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. Transmission appears to be autosomal dominant. | MONDO: A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant."
+BMGC_DS12062,BMG_DS040693,"SNOMEDCT_US: A very rare congenital malformation with brachymesophalangy affecting mainly the second and the fifth digit. When the fourth digit is affected, it results in an abnormally shaped middle phalanx, leading to radial deviation of the distal phalanx. Absence of the middle phalanges of the lateral four toes has been reported. Autosomal dominant inheritance is suggested. | MONDO: Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit."
+BMGC_DS12063,BMG_DS040694,SNOMEDCT_US: A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.
+BMGC_DS12064,BMG_DS040695,"SNOMEDCT_US: A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait. | MONDO: Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges."
+BMGC_DS12065,BMG_DS040696,"MONDO: Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits."
+BMGC_DS12066,BMG_DS040699,"SNOMEDCT_US: A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50. | MONDO: Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50."
+BMGC_DS12067,BMG_DS040700,
+BMGC_DS12068,BMG_DS040701,"SNOMEDCT_US: An apparently familial disorder with features of anterior bowing of tibiae and fibulae and cortical hyperostosis on the concave side of the curvature. Associated anomalies may include short stature and in some cases mental retardation. | MONDO: Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated."
+BMGC_DS12069,BMG_DS040702,
+BMGC_DS12070,BMG_DS040703,"NCI: A rare, autosomal dominant inherited dysplasia of the long bones, characterized by symmetrical diaphyseal medullary stenosis, bone infarctions, pathologic fractures, and a high risk of development of malignant fibrous histiocytoma. | MONDO: Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)."
+BMGC_DS12071,BMG_DS040704,"NCI: Bone dysplasia due to autosomal dominant mutation(s) in the P4HB gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the SEC24D gene, encoding SEC24 homolog D, COPII coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia. | MONDO: An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia)."
+BMGC_DS12072,BMG_DS040708,"MONDO: This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia."
+BMGC_DS12073,BMG_DS040709,
+BMGC_DS12074,BMG_DS040710,
+BMGC_DS12075,BMG_DS040711,
+BMGC_DS12076,BMG_DS040712,
+BMGC_DS12077,BMG_DS040714,MONDO: Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction.
+BMGC_DS12078,BMG_DS040718,"SNOMEDCT_US: A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. | MONDO: Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones."
+BMGC_DS12079,BMG_DS040721,
+BMGC_DS12080,BMG_DS040722,
+BMGC_DS12081,BMG_DS040723,
+BMGC_DS12082,BMG_DS040724,"ORPHANET: A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. | MONDO: Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature."
+BMGC_DS12083,BMG_DS040725,"SNOMEDCT_US: A rare autosomal dominant inherited chorioretinal degenerative disease presenting at birth or during infancy. The disease has characteristics of progressive bilateral retinal and choroidal atrophy which appears as lesions on the optic nerve and peripheral ocular fundus and leads to loss of central vision. Congenital anterior polar cataracts are sometimes associated with this disease. There is evidence this disease is caused by heterozygous mutation in the TEA domain family member-1 gene (TEAD1) on chromosome 11p15. | MONDO: Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease."
+BMGC_DS12084,BMG_DS040726,"MONDO: Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia)."
+BMGC_DS12085,BMG_DS040727,MONDO: An atrial heart septal defect type 1 associated with variation in the region 5p.
+BMGC_DS12086,BMG_DS040728,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.
+BMGC_DS12087,BMG_DS040729,
+BMGC_DS12088,BMG_DS040730,"SNOMEDCT_US: A rare hereditary ataxia with characteristics of an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis. Nystagmus may also be present. | MONDO: Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present."
+BMGC_DS12089,BMG_DS040732,
+BMGC_DS12090,BMG_DS040735,SNOMEDCT_US: This syndrome has characteristics of an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. | MONDO: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
+BMGC_DS12091,BMG_DS040736,"SNOMEDCT_US: An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. | MONDO: Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal."
+BMGC_DS12092,BMG_DS040738,MONDO: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.
+BMGC_DS12093,BMG_DS040740,
+BMGC_DS12094,BMG_DS040748,
+BMGC_DS12095,BMG_DS040749,
+BMGC_DS12096,BMG_DS040750,
+BMGC_DS12097,BMG_DS040751,
+BMGC_DS12098,BMG_DS040752,"MONDO: Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968."
+BMGC_DS12099,BMG_DS040753,
+BMGC_DS12100,BMG_DS040754,"HPO: Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. [HPO_CONTRIBUTOR:DDD_ncarter] | MONDO: A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis)."
+BMGC_DS12101,BMG_DS040756,"SNOMEDCT_US: A rare malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. Cooks syndrome is congenital and presents with hypo/anonychia, small or absent distal phalanges and digitalization of the thumbs. Usually, the nails of digits 1-3 are progressively deformed, with anonychia congenita totalis in the digits 4-5 and in all toes. Additional features include hypoplasia of the distal phalanges in digits 2-4 with absence of the distal phalanx of digit 5. In the feet, there is absence of all distal phalanges of digits 2-5 with hypoplasia of the distal phalanx of digit 1. | MONDO: Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized."
+BMGC_DS12102,BMG_DS040758,
+BMGC_DS12103,BMG_DS040759,"ORPHANET: A rare ectodermal dysplasia syndrome characterized by anonychia congenita totalis or rudimentary nails, macular hyper- and/or hypopigmentation (particularly affecting groins, axillae and breasts), coarse scalp hair (that becomes markedly thinned in early adult life), dry palmoplantar skin with distorted epidermal ridges and sore, cracked soles, and hypohidrosis. There have been no further descriptions in the literature since 1975. | MONDO: Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant."
+BMGC_DS12104,BMG_DS040760,"MONDO: Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene."
+BMGC_DS12105,BMG_DS040761,"SNOMEDCT_US: A rare syndromic developmental defect of the eye malformation with characteristics of unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal."
+BMGC_DS12106,BMG_DS040762,
+BMGC_DS12107,BMG_DS040763,"SNOMEDCT_US: A syndrome described in three members of a family (a boy, his father and his paternal grandmother) with the association of aniridia and patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. | MONDO: Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975."
+BMGC_DS12108,BMG_DS040764,MeSH: Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
+BMGC_DS12109,BMG_DS040767,
+BMGC_DS12110,BMG_DS040771,"NCI: An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase."
+BMGC_DS12111,BMG_DS040773,"MONDO: Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history."
+BMGC_DS12112,BMG_DS040774,
+BMGC_DS12113,BMG_DS040776,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.
+BMGC_DS12114,BMG_DS040777,
+BMGC_DS12115,BMG_DS040778,
+BMGC_DS12116,BMG_DS040779,MONDO: An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.
+BMGC_DS12117,BMG_DS040780,"NCI: Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65."
+BMGC_DS12118,BMG_DS040782,MONDO: OBSOLETE. Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
+BMGC_DS12119,BMG_DS040784,
+BMGC_DS12120,BMG_DS040785,
+BMGC_DS12121,BMG_DS040786,
+BMGC_DS12122,BMG_DS040787,
+BMGC_DS12123,BMG_DS040789,"MONDO: A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person."
+BMGC_DS12124,BMG_DS040790,"SNOMEDCT_US: The ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome has characteristics of ectrodactyly, excessive freckling, onychodysplasia, obstruction of lacrimal ducts and hypodontia and/or early loss of permanent teeth. Variable clinical expression is observed. Fourteen cases have been described so far. Transmission is autosomal dominant. | MONDO: ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia."
+BMGC_DS12125,BMG_DS040791,MONDO: Autosomal dominant phenotype characterized by increase of red blood cell ATP.
+BMGC_DS12126,BMG_DS040793,"MONDO: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected."
+BMGC_DS12127,BMG_DS040794,MONDO: A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
+BMGC_DS12128,BMG_DS040795,
+BMGC_DS12129,BMG_DS040796,"SNOMEDCT_US: A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36. | MONDO: A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones)."
+BMGC_DS12130,BMG_DS040797,
+BMGC_DS12131,BMG_DS040798,"MONDO: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis."
+BMGC_DS12132,BMG_DS040799,
+BMGC_DS12133,BMG_DS040800,MeSH: Congenital craniostenosis with syndactyly.
+BMGC_DS12134,BMG_DS040802,
+BMGC_DS12135,BMG_DS040803,"NCI: An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia. | MONDO: An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia."
+BMGC_DS12136,BMG_DS040807,MONDO: Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.
+BMGC_DS12137,BMG_DS040808,MONDO: Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.
+BMGC_DS12138,BMG_DS040810,"SNOMEDCT_US: Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. | MONDO: Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested."
+BMGC_DS12139,BMG_DS040811,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.
+BMGC_DS12140,BMG_DS040813,"ORPHANET: A rare genetic neuromuscular disease characterized by adult onset of slowly progressive distal and/or proximal muscle weakness in the upper and lower extremities, and early involvement of respiratory muscles leading to respiratory failure. Additional features are neck flexor weakness, foot extensor weakness, and, in rare cases, mildly impaired cardiac function. Muscle biopsy shows eosinophilic myofibrillar inclusions referred to as cytoplasmic bodies, as well as fiber size variation, increased internal nuclei and connective tissue, fiber splitting, and rimmed vacuoles."
+BMGC_DS12141,BMG_DS040814,
+BMGC_DS12142,BMG_DS040815,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.
+BMGC_DS12143,BMG_DS040816,"MONDO: Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism."
+BMGC_DS12144,BMG_DS040822,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.
+BMGC_DS12145,BMG_DS040826,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene.
+BMGC_DS12146,BMG_DS040827,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.
+BMGC_DS12147,BMG_DS040829,
+BMGC_DS12148,BMG_DS040830,"ORPHANET: Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. | MONDO: Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic."
+BMGC_DS12149,BMG_DS040834,"SNOMEDCT_US: A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene."
+BMGC_DS12150,BMG_DS040835,NCI: Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the PRF1 gene. | MONDO: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene.
+BMGC_DS12151,BMG_DS040836,NCI: Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the STX11 gene. | MONDO: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.
+BMGC_DS12152,BMG_DS040837,"NCI: A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. | MONDO: A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity."
+BMGC_DS12153,BMG_DS040838,HPO: Increased size of the vestibular aqueduct. [HPO_CONTRIBUTOR:DDD_mbitner-glidicz]
+BMGC_DS12154,BMG_DS040839,"SNOMEDCT_US: A rare type of ectodermal dysplasia. Less than 50 cases have been described in the literature so far. Clinically, the syndrome has characteristics of severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Clinical expression is extremely variable. Individuals with mild LMS have isolated athelia. All three major categories of limb defects (i.e., deficiencies, duplications and fusion/separation defects), as well as several combinations of these anomalies, were observed. Variation in the severity of the limb defects may be observed, not only between individuals but also between the left and right hand/foot of one individual. Skin and hair are spared. An autosomal dominant disease caused by loss-of-function mutations in exon 13 and 14 of the TP63 gene found on the subtelomeric region of chromosome 3 (3q27). | MONDO: Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias."
+BMGC_DS12155,BMG_DS040842,
+BMGC_DS12156,BMG_DS040843,"NCI: A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive abnormalities. | MONDO: Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss."
+BMGC_DS12157,BMG_DS040844,"SNOMEDCT_US: A severe subtype of citrin deficiency characterized clinically by adult onset, recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior, seizures and coma. | MONDO: Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma."
+BMGC_DS12158,BMG_DS040846,"HPO: A short discontinuity of the margin of the upper eyelid. [https://orcid.org/0000-0002-0736-9199] | MONDO: Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome."
+BMGC_DS12159,BMG_DS040847,
+BMGC_DS12160,BMG_DS040850,"MONDO: An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit."
+BMGC_DS12161,BMG_DS040857,
+BMGC_DS12162,BMG_DS040859,
+BMGC_DS12163,BMG_DS040860,
+BMGC_DS12164,BMG_DS040861,"ORPHANET: A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy."
+BMGC_DS12165,BMG_DS040864,"ORPHANET: An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). | MONDO: GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)."
+BMGC_DS12166,BMG_DS040865,MONDO: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.
+BMGC_DS12167,BMG_DS040867,MONDO: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.
+BMGC_DS12168,BMG_DS040868,MONDO: Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.
+BMGC_DS12169,BMG_DS040869,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25.
+BMGC_DS12170,BMG_DS040870,"ORPHANET: Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. | MONDO: Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance."
+BMGC_DS12171,BMG_DS040871,
+BMGC_DS12172,BMG_DS040872,"SNOMEDCT_US: A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. | MONDO: Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene."
+BMGC_DS12173,BMG_DS040874,MONDO: An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.
+BMGC_DS12174,BMG_DS040875,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene.
+BMGC_DS12175,BMG_DS040878,
+BMGC_DS12176,BMG_DS040884,"SNOMEDCT_US: A very rare condition with characteristics of craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, anal anomalies, genitourinary malformations and skin eruptions. It has been described in seven patients from four unrelated families. Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanelles and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis. Sensorineural hearing loss and mild to severe developmental delay are common. The condition is transmitted as an autosomal recessive trait. | MONDO: Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)."
+BMGC_DS12177,BMG_DS040885,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.
+BMGC_DS12178,BMG_DS040886,MONDO: An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.
+BMGC_DS12179,BMG_DS040888,"NCI: Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner. | MONDO: Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner."
+BMGC_DS12180,BMG_DS040890,MONDO: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21.
+BMGC_DS12181,BMG_DS040891,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.
+BMGC_DS12182,BMG_DS040893,"SNOMEDCT_US: An autosomal recessively inherited form of acromesomelic dysplasia with characteristics of severe dwarfism (adult height less than 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening) and with normal facial appearance and intelligence. | MONDO: A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type."
+BMGC_DS12183,BMG_DS040894,
+BMGC_DS12184,BMG_DS040895,
+BMGC_DS12185,BMG_DS040896,"NCI: A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes. | MONDO: Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay."
+BMGC_DS12186,BMG_DS040897,"SNOMEDCT_US: A rare cutaneous disease and a systemic inherited histiocytosis with main characteristics of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. The syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3), which result in defective nucleoside transport functions of hENT3. This leads to histiocytic infiltration of numerous organs. Transmission is autosomal recessive. | MONDO: A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)."
+BMGC_DS12187,BMG_DS040898,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene.
+BMGC_DS12188,BMG_DS040900,MONDO: Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.
+BMGC_DS12189,BMG_DS040901,ORPHANET: A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features. | MONDO: Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.
+BMGC_DS12190,BMG_DS040904,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.
+BMGC_DS12191,BMG_DS040905,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene.
+BMGC_DS12192,BMG_DS040906,MONDO: Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.
+BMGC_DS12193,BMG_DS040907,"MONDO: Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders."
+BMGC_DS12194,BMG_DS040909,MONDO: Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
+BMGC_DS12195,BMG_DS040910,"ORPHANET: A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability. | MONDO: Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability."
+BMGC_DS12196,BMG_DS040911,
+BMGC_DS12197,BMG_DS040912,"ORPHANET: A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent. | MONDO: Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit."
+BMGC_DS12198,BMG_DS040913,MONDO: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.
+BMGC_DS12199,BMG_DS040914,"SNOMEDCT_US: A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D. | MONDO: A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
+BMGC_DS12200,BMG_DS040915,"MONDO: Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy."
+BMGC_DS12201,BMG_DS040916,"SNOMEDCT_US: This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. | MONDO: Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development."
+BMGC_DS12202,BMG_DS040917,"SNOMEDCT_US: The association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Less than 20 cases have been reported in the literature so far. The clinical picture is highly variable, even between affected members of the same family. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency, has also been reported. The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3). | MONDO: Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations."
+BMGC_DS12203,BMG_DS040918,MONDO: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.
+BMGC_DS12204,BMG_DS040919,MONDO: Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.
+BMGC_DS12205,BMG_DS040920,"SNOMEDCT_US: A rare genetic distal myopathy with characteristics of slowly progressive distal to proximal limb muscle weakness and atrophy and early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. | MONDO: Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common."
+BMGC_DS12206,BMG_DS040921,MONDO: Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.
+BMGC_DS12207,BMG_DS040922,"MONDO: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene."
+BMGC_DS12208,BMG_DS040923,
+BMGC_DS12209,BMG_DS040924,"ORPHANET: A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. | MONDO: A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate."
+BMGC_DS12210,BMG_DS040926,MONDO: Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.
+BMGC_DS12211,BMG_DS040929,
+BMGC_DS12212,BMG_DS040930,"ORPHANET: Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. | MONDO: Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss."
+BMGC_DS12213,BMG_DS040931,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.
+BMGC_DS12214,BMG_DS040935,
+BMGC_DS12215,BMG_DS040936,
+BMGC_DS12216,BMG_DS040937,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.
+BMGC_DS12217,BMG_DS040938,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.
+BMGC_DS12218,BMG_DS040940,"SNOMEDCT_US: A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression. | MONDO: A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression."
+BMGC_DS12219,BMG_DS040941,"ORPHANET: Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters. | MONDO: Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters."
+BMGC_DS12220,BMG_DS040942,NCI: Holoprosencephaly associated with mutations in the ZIC2 gene. | MONDO: Holoprosencephaly associated with mutations in the ZIC2 gene.
+BMGC_DS12221,BMG_DS040943,MONDO: An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.
+BMGC_DS12222,BMG_DS040944,MONDO: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.
+BMGC_DS12223,BMG_DS040945,"MONDO: Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy."
+BMGC_DS12224,BMG_DS040946,"SNOMEDCT_US: A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterised by severe intrauterine growth retardation, neonatal limb oedema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. | MONDO: Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined."
+BMGC_DS12225,BMG_DS040947,MONDO: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.
+BMGC_DS12226,BMG_DS040949,MONDO: Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.
+BMGC_DS12227,BMG_DS040950,MONDO: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.
+BMGC_DS12228,BMG_DS040951,MONDO: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.
+BMGC_DS12229,BMG_DS040952,"SNOMEDCT_US: This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. | MONDO: Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth."
+BMGC_DS12230,BMG_DS040953,
+BMGC_DS12231,BMG_DS040954,
+BMGC_DS12232,BMG_DS040955,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.
+BMGC_DS12233,BMG_DS040956,MONDO: A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
+BMGC_DS12234,BMG_DS040957,"SNOMEDCT_US: A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267. | MONDO: A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior."
+BMGC_DS12235,BMG_DS040958,"SNOMEDCT_US: A rare primary bone dysplasia with characteristics of severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Caused by homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. | MONDO: A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips."
+BMGC_DS12236,BMG_DS040959,HPO: The deposition of calcium phosphate microliths within the seminiferous tubules. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS12237,BMG_DS040963,
+BMGC_DS12238,BMG_DS040966,
+BMGC_DS12239,BMG_DS040967,
+BMGC_DS12240,BMG_DS040968,
+BMGC_DS12241,BMG_DS040969,"SNOMEDCT_US: A form of diazoxide-sensitive diffuse hyperinsulinism characterised by episodes of hypoglycaemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycaemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycaemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant. | MONDO: Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells."
+BMGC_DS12242,BMG_DS040970,"HPO: An increased concentration of insulin combined with a decreased concentration of glucose in the blood. [https://orcid.org/0000-0002-0736-9199] | MONDO: An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11."
+BMGC_DS12243,BMG_DS040971,MONDO: Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.
+BMGC_DS12244,BMG_DS040972,
+BMGC_DS12245,BMG_DS040973,"HPO: Increased concentration of 2-methylbutyryl glycine in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:17883863] | MONDO: A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported."
+BMGC_DS12246,BMG_DS040974,"ORPHANET: Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision. | MONDO: Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision."
+BMGC_DS12247,BMG_DS040979,"MONDO: This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals."
+BMGC_DS12248,BMG_DS040983,"NCI: A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the MCM4 gene. | MONDO: The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21."
+BMGC_DS12249,BMG_DS040984,MONDO: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.
+BMGC_DS12250,BMG_DS040985,"MONDO: Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset."
+BMGC_DS12251,BMG_DS040986,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.
+BMGC_DS12252,BMG_DS040990,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.
+BMGC_DS12253,BMG_DS040991,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.
+BMGC_DS12254,BMG_DS040992,
+BMGC_DS12255,BMG_DS040993,
+BMGC_DS12256,BMG_DS040994,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.
+BMGC_DS12257,BMG_DS040996,MONDO: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.
+BMGC_DS12258,BMG_DS040999,
+BMGC_DS12259,BMG_DS041000,"SNOMEDCT_US: An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. | MONDO: Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis."
+BMGC_DS12260,BMG_DS041001,MONDO: Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.
+BMGC_DS12261,BMG_DS041002,MONDO: Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
+BMGC_DS12262,BMG_DS041003,MONDO: Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.
+BMGC_DS12263,BMG_DS041004,
+BMGC_DS12264,BMG_DS041005,
+BMGC_DS12265,BMG_DS041007,MONDO: Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.
+BMGC_DS12266,BMG_DS041008,"MONDO: Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability."
+BMGC_DS12267,BMG_DS041010,
+BMGC_DS12268,BMG_DS041011,
+BMGC_DS12269,BMG_DS041015,MONDO: Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.
+BMGC_DS12270,BMG_DS041016,"ORPHANET: MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene &lt;i&gt;MPI&lt;/i&gt; (15q24.1). | MONDO: MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)."
+BMGC_DS12271,BMG_DS041018,
+BMGC_DS12272,BMG_DS041021,"SNOMEDCT_US: Disease with characteristics of severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy. The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. | MONDO: A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly."
+BMGC_DS12273,BMG_DS041024,"MONDO: A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy."
+BMGC_DS12274,BMG_DS041027,"ORPHANET: A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers."
+BMGC_DS12275,BMG_DS041028,
+BMGC_DS12276,BMG_DS041029,"SNOMEDCT_US: Grange syndrome has characteristics of stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. So far, the syndrome has been reported in six patients from three families. Congenital heart defects were also reported in some cases. The mode of transmission remains unclear, both autosomal recessive and autosomal dominant inheritance with decreased penetrance and parental gonadal mosaicism have been proposed. | MONDO: Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases."
+BMGC_DS12277,BMG_DS041030,MONDO: Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.
+BMGC_DS12278,BMG_DS041032,"MONDO: A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism."
+BMGC_DS12279,BMG_DS041033,"SNOMEDCT_US: A rare genetic eye disease with characteristics of microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement or variable extent of coloboma among other features."
+BMGC_DS12280,BMG_DS041034,"MONDO: An inherited susceptibility or predisposition to developing familial combined hyperlipidemia, in which the cause of the disease is a mutation in the USF1 gene."
+BMGC_DS12281,BMG_DS041035,"MONDO: Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae."
+BMGC_DS12282,BMG_DS041037,
+BMGC_DS12283,BMG_DS041038,"ORPHANET: A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported. | MONDO: Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress."
+BMGC_DS12284,BMG_DS041039,SNOMEDCT_US: Migraine type caused by mutations in the ATP1A2 gene. | MONDO: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.
+BMGC_DS12285,BMG_DS041040,
+BMGC_DS12286,BMG_DS041041,
+BMGC_DS12287,BMG_DS041042,"MONDO: A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms."
+BMGC_DS12288,BMG_DS041043,"SNOMEDCT_US: Disease defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging abnormalities. The disease manifests at birth or in the first few months of life. Caused by mutations in the ETHE1 gene (chromosome 19q13). The disease is inherited in an autosomal recessive manner. | MONDO: Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities."
+BMGC_DS12289,BMG_DS041045,
+BMGC_DS12290,BMG_DS041046,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.
+BMGC_DS12291,BMG_DS041047,"MONDO: Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation."
+BMGC_DS12292,BMG_DS041048,"SNOMEDCT_US: A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive."
+BMGC_DS12293,BMG_DS041049,
+BMGC_DS12294,BMG_DS041050,ORPHANET: Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. | MONDO: Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.
+BMGC_DS12295,BMG_DS041051,"SNOMEDCT_US: A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene."
+BMGC_DS12296,BMG_DS041053,MONDO: Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility.
+BMGC_DS12297,BMG_DS041054,
+BMGC_DS12298,BMG_DS041057,"ORPHANET: Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. | MONDO: Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol."
+BMGC_DS12299,BMG_DS041058,MONDO: Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.
+BMGC_DS12300,BMG_DS041059,MONDO: Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.
+BMGC_DS12301,BMG_DS041060,"SNOMEDCT_US: A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisation. First described in 1989, less than 30 cases have been reported so far. Aetiology is not well known, but some histological findings report growth plate disorganisation and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. | MONDO: Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization."
+BMGC_DS12302,BMG_DS041061,"ORPHANET: Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. | MONDO: Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood."
+BMGC_DS12303,BMG_DS041062,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly. | MONDO: Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear."
+BMGC_DS12304,BMG_DS041064,"SNOMEDCT_US: A rare type of spondylometaphyseal dysplasia with characteristics of metaphyseal changes of the truncal-juxta truncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora. | MONDO: Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion."
+BMGC_DS12305,BMG_DS041067,
+BMGC_DS12306,BMG_DS041068,
+BMGC_DS12307,BMG_DS041069,
+BMGC_DS12308,BMG_DS041070,
+BMGC_DS12309,BMG_DS041071,"SNOMEDCT_US: Syndrome with the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. So far, it has been described in four males. Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded. | MONDO: RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia."
+BMGC_DS12310,BMG_DS041074,
+BMGC_DS12311,BMG_DS041075,MONDO: A focal dystonia characterized by predominately cervical dystonia that has material basis in variation in the chromosome region 18p.
+BMGC_DS12312,BMG_DS041076,
+BMGC_DS12313,BMG_DS041077,
+BMGC_DS12314,BMG_DS041078,"SNOMEDCT_US: Disorder with manifestations of moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations. Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected siblings. Predisposition deformities to osteoarthritis have been noted. This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner. | MONDO: A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood."
+BMGC_DS12315,BMG_DS041080,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene.
+BMGC_DS12316,BMG_DS041081,"MONDO: A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner."
+BMGC_DS12317,BMG_DS041082,HPO: A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS12318,BMG_DS041083,
+BMGC_DS12319,BMG_DS041084,MONDO: Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.
+BMGC_DS12320,BMG_DS041085,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.
+BMGC_DS12321,BMG_DS041086,"MONDO: Capillary hemangiomas are benign, highly proliferative lesions involving aberrant localized growth of capillary endothelium. They are the most common tumor of infancy, occurring in up to 10% of all births. Hemangiomas tend to appear shortly after birth and show rapid neonatal growth for up to 12 months characterized by endothelial hypercellularity and increased numbers of mast cells. This phase is followed by slow involution at a rate of about 10% per year and replacement by fibrofatty stroma. Hemangiomas are classified as distinct from vascular malformations, in that the latter are present from birth, tend to grow with the individual, do not regress, and show normal rates of endothelial cell turnover."
+BMGC_DS12322,BMG_DS041087,"ORPHANET: A rare clinical variant of hereditary nephronophthisis characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before 3 years of age. | MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene."
+BMGC_DS12323,BMG_DS041088,MONDO: An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.
+BMGC_DS12324,BMG_DS041089,MONDO: An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.
+BMGC_DS12325,BMG_DS041090,
+BMGC_DS12326,BMG_DS041091,MONDO: A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner.
+BMGC_DS12327,BMG_DS041092,MONDO: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.
+BMGC_DS12328,BMG_DS041093,
+BMGC_DS12329,BMG_DS041094,
+BMGC_DS12330,BMG_DS041095,"SNOMEDCT_US: A rare neurological condition with manifestation of seizures during the first year of life and choreoathetotic dyskinetic attacks during childhood or adolescence. Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. Seizures are afebrile and normally disappear after the first year of life. During childhood or adolescence, affected individuals present with paroxysmal kinesigenic dyskinesia with frequent and recurrent episodic choreathetotic or dystonic movements that last less than 1 minute. Can present as sporadic or familial, in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family. | MONDO: A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence."
+BMGC_DS12331,BMG_DS041096,
+BMGC_DS12332,BMG_DS041097,"ORPHANET: Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. | MONDO: Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications."
+BMGC_DS12333,BMG_DS041098,"MONDO: Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11"
+BMGC_DS12334,BMG_DS041099,
+BMGC_DS12335,BMG_DS041101,"SNOMEDCT_US: This syndrome has characteristics of neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. | MONDO: Odonto-tricho-ungual-digito-palmar syndrome is characterized by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait."
+BMGC_DS12336,BMG_DS041102,"SNOMEDCT_US: A mild form of limb-girdle muscular dystrophy with characteristics of muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy and lack of respiratory and cardiac involvement. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed."
+BMGC_DS12337,BMG_DS041103,"SNOMEDCT_US: An inherited epidermal disorder with characteristics of palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. The disease is caused by homozygous mutation in the POMP gene. | MONDO: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities."
+BMGC_DS12338,BMG_DS041104,SNOMEDCT_US: An extremely rare form of hereditary episodic ataxia with characteristics of recurrent episodes of vertigo and ataxia lasting several hours. | MONDO: Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.
+BMGC_DS12339,BMG_DS041105,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene.
+BMGC_DS12340,BMG_DS041106,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21.
+BMGC_DS12341,BMG_DS041107,
+BMGC_DS12342,BMG_DS041108,
+BMGC_DS12343,BMG_DS041109,MONDO: Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.
+BMGC_DS12344,BMG_DS041110,"NCI: An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the FN1 gene, encoding fibronectin. It is characterized by microscopic hematuria, proteinuria and hypertension resulting in end-stage renal disease. | MONDO: Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene."
+BMGC_DS12345,BMG_DS041112,MONDO: Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.
+BMGC_DS12346,BMG_DS041113,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene.
+BMGC_DS12347,BMG_DS041114,
+BMGC_DS12348,BMG_DS041115,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.
+BMGC_DS12349,BMG_DS041116,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.
+BMGC_DS12350,BMG_DS041117,"NCI: A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma."
+BMGC_DS12351,BMG_DS041118,NCI: Autoimmune lymphoproliferative syndrome characterized by the presence of germline FASLG mutation.
+BMGC_DS12352,BMG_DS041121,
+BMGC_DS12353,BMG_DS041123,"MONDO: 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form"
+BMGC_DS12354,BMG_DS041124,
+BMGC_DS12355,BMG_DS041125,"SNOMEDCT_US: A rare genetic progeroid syndrome disorder with characteristics of a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32."
+BMGC_DS12356,BMG_DS041126,
+BMGC_DS12357,BMG_DS041127,"MONDO: Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life."
+BMGC_DS12358,BMG_DS041128,
+BMGC_DS12359,BMG_DS041129,
+BMGC_DS12360,BMG_DS041132,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
+BMGC_DS12361,BMG_DS041133,"SNOMEDCT_US: A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations. | MONDO: Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations."
+BMGC_DS12362,BMG_DS041134,
+BMGC_DS12363,BMG_DS041138,MONDO: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene.
+BMGC_DS12364,BMG_DS041139,"SNOMEDCT_US: Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group. | MONDO: Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. | MeSH: Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called elephant man, apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics."
+BMGC_DS12365,BMG_DS041140,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene.
+BMGC_DS12366,BMG_DS041141,"ORPHANET: A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. | MONDO: Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds."
+BMGC_DS12367,BMG_DS041142,
+BMGC_DS12368,BMG_DS041143,"SNOMEDCT_US: An exceedingly rare genetic disorder with characteristics of cutaneous pigmentation anomalies, ocular disorders and hearing loss. The syndrome was described in 1990 in two patients from the same Yemenite family. A brother and sister were described as having cutaneous patchy hypo and hyperpigmentation on the trunk and extremities, grey hair, white brows and lashes. Ocular manifestations were microcornea, coloboma and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. The cause of this syndrome has not been determined. The inheritance pattern appears to be autosomal recessive. | MONDO: Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss."
+BMGC_DS12369,BMG_DS041144,"SNOMEDCT_US: A rare type of severe combined immunodeficiency (SCID) with missing functional T-cells. The disease affects growth of the hair and nails. Affected individuals have no scalp hair, eyebrows, or eyelashes and the nails are often ridged, pitted, or abnormally curved. The disease results from mutations in the FOXN1 gene which prevents cells from making any functional FOXN1 protein. | MONDO: A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."
+BMGC_DS12370,BMG_DS041145,
+BMGC_DS12371,BMG_DS041146,
+BMGC_DS12372,BMG_DS041148,
+BMGC_DS12373,BMG_DS041149,"NCI: An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria."
+BMGC_DS12374,BMG_DS041151,"NCI: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD. | MeSH: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene."
+BMGC_DS12375,BMG_DS041154,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21.
+BMGC_DS12376,BMG_DS041155,MONDO: Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.
+BMGC_DS12377,BMG_DS041156,
+BMGC_DS12378,BMG_DS041158,MONDO: An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)
+BMGC_DS12379,BMG_DS041160,
+BMGC_DS12380,BMG_DS041161,
+BMGC_DS12381,BMG_DS041163,"SNOMEDCT_US: Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis. CMT4C is a relatively frequent form of CMT4: it was first described in Algeria but families have since been reported from Morocco, Mediterranean countries and from Germany, the Netherlands and France. Scoliosis may be the inaugural feature of the disease, with onset usually occurring in childhood. CMT4C is caused by mutations in the SH3TC2 gene (5q32). Transmitted in an autosomal recessive manner. | MONDO: Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported."
+BMGC_DS12382,BMG_DS041164,"SNOMEDCT_US: This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity. | MONDO: Holoprosencephaly-radial heart renal anomalies syndrome is characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder."
+BMGC_DS12383,BMG_DS041165,MONDO: The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.
+BMGC_DS12384,BMG_DS041166,"SNOMEDCT_US: This syndrome has characteristics of congenital conductive deafness due to stapes ankylosis, broad thumbs and first toes and hyperopia. So far, it has been described in multiple members of six families. Other skeletal malformations were also reported including short distal phalanges and syndactyly, but symphalangism is usually absent. Transmission is autosomal dominant and the syndrome is caused by mutations in the NOG gene (17q22). | MONDO: Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia."
+BMGC_DS12385,BMG_DS041167,"SNOMEDCT_US: Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified. | MONDO: Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet."
+BMGC_DS12386,BMG_DS041168,"MONDO: Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies."
+BMGC_DS12387,BMG_DS041172,
+BMGC_DS12388,BMG_DS041174,"SNOMEDCT_US: A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism. | MONDO: Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus."
+BMGC_DS12389,BMG_DS041175,
+BMGC_DS12390,BMG_DS041176,
+BMGC_DS12391,BMG_DS041178,"SNOMEDCT_US: A rare dysostosis syndrome with characteristics of abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It may also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. | MONDO: Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations."
+BMGC_DS12392,BMG_DS041179,
+BMGC_DS12393,BMG_DS041181,
+BMGC_DS12394,BMG_DS041182,
+BMGC_DS12395,BMG_DS041184,
+BMGC_DS12396,BMG_DS041185,"NCI: An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration. | MONDO: An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration."
+BMGC_DS12397,BMG_DS041186,"SNOMEDCT_US: A rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations."
+BMGC_DS12398,BMG_DS041188,"MONDO: This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases."
+BMGC_DS12399,BMG_DS041189,
+BMGC_DS12400,BMG_DS041190,
+BMGC_DS12401,BMG_DS041192,"MONDO: Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992."
+BMGC_DS12402,BMG_DS041193,
+BMGC_DS12403,BMG_DS041194,"MONDO: This syndrome is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy."
+BMGC_DS12404,BMG_DS041196,"SNOMEDCT_US: A form of hereditary spastic paraplegia with high intrafamilial clinical variability. Characterized in most cases as a pure phenotype with an adult onset (mainly the third to fifth decade of life, but that can present at any age) with progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Caused by mutations in the SPAST gene (2p24-p21), encoding spastin. | MONDO: Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset."
+BMGC_DS12405,BMG_DS041198,
+BMGC_DS12406,BMG_DS041200,"SNOMEDCT_US: A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. | MONDO: Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities."
+BMGC_DS12407,BMG_DS041201,
+BMGC_DS12408,BMG_DS041202,
+BMGC_DS12409,BMG_DS041203,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of dysmorphic facial features including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. | MONDO: Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994."
+BMGC_DS12410,BMG_DS041204,
+BMGC_DS12411,BMG_DS041206,"SNOMEDCT_US: This syndrome has characteristics of severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. | MONDO: Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males."
+BMGC_DS12412,BMG_DS041208,"SNOMEDCT_US: An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. | MONDO: Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described."
+BMGC_DS12413,BMG_DS041209,"ORPHANET: A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings."
+BMGC_DS12414,BMG_DS041210,"SNOMEDCT_US: Syndrome with characteristics of the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent hypoplastic ears with almost absent pinna and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. | MONDO: Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant."
+BMGC_DS12415,BMG_DS041211,MONDO: Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A.
+BMGC_DS12416,BMG_DS041212,"SNOMEDCT_US: A rare genetic syndrome with characteristics of cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. | MONDO: Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed."
+BMGC_DS12417,BMG_DS041218,
+BMGC_DS12418,BMG_DS041219,"SNOMEDCT_US: Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age. | MONDO: Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas."
+BMGC_DS12419,BMG_DS041220,SNOMEDCT_US: Ring dermoid of cornea has characteristics of annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene on chromosome 4q25 have been suggested as a potential cause of the condition. | MONDO: Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.
+BMGC_DS12420,BMG_DS041221,
+BMGC_DS12421,BMG_DS041222,
+BMGC_DS12422,BMG_DS041225,MONDO: A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life.
+BMGC_DS12423,BMG_DS041226,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene.
+BMGC_DS12424,BMG_DS041227,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.
+BMGC_DS12425,BMG_DS041229,
+BMGC_DS12426,BMG_DS041231,"SNOMEDCT_US: A patterned dystrophy of the retinal pigment epithelium with a progressive course. The disease is characterised by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Sometimes associated with scleral staphyloma, choroidal neovascularisation, convergent strabismus, spherophakia with myopia and luxated lenses and partial atrophy of the iris. | MONDO: Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris."
+BMGC_DS12427,BMG_DS041232,
+BMGC_DS12428,BMG_DS041234,
+BMGC_DS12429,BMG_DS041236,
+BMGC_DS12430,BMG_DS041237,
+BMGC_DS12431,BMG_DS041238,"SNOMEDCT_US: This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. | MONDO: A syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait."
+BMGC_DS12432,BMG_DS041239,HPO: A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS12433,BMG_DS041240,MONDO: An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. | MeSH: Narrowing of the pyloric canal due to HYPERTROPHY of the surrounding circular muscle. It is usually seen in infants or young children.
+BMGC_DS12434,BMG_DS041241,
+BMGC_DS12435,BMG_DS041242,
+BMGC_DS12436,BMG_DS041244,
+BMGC_DS12437,BMG_DS041245,"MONDO: Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant."
+BMGC_DS12438,BMG_DS041246,MONDO: Congenital ptosis is characterized by superior eyelid drop present at birth.
+BMGC_DS12439,BMG_DS041247,"HPO: Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS12440,BMG_DS041248,"SNOMEDCT_US: A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13."
+BMGC_DS12441,BMG_DS041249,
+BMGC_DS12442,BMG_DS041250,"SNOMEDCT_US: This syndrome has manifestation of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. | MONDO: Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p."
+BMGC_DS12443,BMG_DS041251,MONDO: Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene.
+BMGC_DS12444,BMG_DS041252,"MONDO: An autosomal dominant form of PXE. | MeSH: An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE."
+BMGC_DS12445,BMG_DS041256,
+BMGC_DS12446,BMG_DS041259,
+BMGC_DS12447,BMG_DS041262,HPO: A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). [https://orcid.org/0000-0002-0736-9199] | MONDO: A benign neoplasm that involves the eye.
+BMGC_DS12448,BMG_DS041265,HPO: Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. [PMID:28070240]
+BMGC_DS12449,BMG_DS041266,
+BMGC_DS12450,BMG_DS041268,
+BMGC_DS12451,BMG_DS041271,"SNOMEDCT_US: An extremely rare syndrome with characteristics of hypoplastic thumbs and halluces, fifth finger brachydactyly, postaxial polydactyly of the hands, short or uniphalangeal second toes with absent nails and hypospadias. It has been described in a father and his son and daughter. The affected patients have normal mental development. Except for postaxial polydactyly of the hands and uniphalangeal second toes with absent nails, features are in common with hand-foot-genital syndrome caused by mutations in the HOXA13 gene. In all three affected individuals, two different sequence alterations were identified in HOXA13 gene: a de novo missense mutation and a deletion in the promoter region of the gene, inherited from an unaffected parent, which may contribute to the phenotype in the affected individuals. The condition is inherited in an autosomal dominant manner. | MONDO: Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias."
+BMGC_DS12452,BMG_DS041273,"NCI: An autosomal dominant condition caused by mutation(s) in the KCNE1 gene, encoding potassium voltage-gated channel subfamily E member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. | MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene."
+BMGC_DS12453,BMG_DS041274,
+BMGC_DS12454,BMG_DS041275,"SNOMEDCT_US: A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. | MONDO: Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993."
+BMGC_DS12455,BMG_DS041276,MONDO: An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual.
+BMGC_DS12456,BMG_DS041277,
+BMGC_DS12457,BMG_DS041278,
+BMGC_DS12458,BMG_DS041279,"SNOMEDCT_US: A type of isolated punctate hereditary palmoplantar keratoderma with characteristics of multiple asymptomatic 1 to 2 mm-long, firm, hyperkeratotic projections (spiny keratosis) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically compact columnar parakeratosis over hypo or agranular epidermis is observed. | MONDO: Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (\"
+BMGC_DS12459,BMG_DS041280,"SNOMEDCT_US: A rare genetic cerebral malformation with characteristics of an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. Porencephaly may manifest before or after birth. The cysts or cavities can be located anywhere within the cerebral parenchyma and are typically lined by smooth walls and surrounded by an atrophic cortex. Mutations in the COL4A1 (13q34) and COL4A2 (13q34) genes have been identified in familial porencephaly and de novo cases. The pattern of inheritance for familial porencephaly is autosomal dominant. | MONDO: An instance of porencephaly that is caused by an inherited modification of the individual's genome."
+BMGC_DS12460,BMG_DS041283,"HPO: Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. [PMID:20567540]"
+BMGC_DS12461,BMG_DS041284,
+BMGC_DS12462,BMG_DS041285,
+BMGC_DS12463,BMG_DS041288,
+BMGC_DS12464,BMG_DS041290,"MONDO: Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present."
+BMGC_DS12465,BMG_DS041292,"SNOMEDCT_US: A limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been described, unilateral and bilateral. There have been no further descriptions in the literature since 1962. | MONDO: Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962."
+BMGC_DS12466,BMG_DS041293,"SNOMEDCT_US: Features the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane. Also associated with systemic syndromes including Holt-Oram syndrome. | MONDO: A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia."
+BMGC_DS12467,BMG_DS041294,SNOMEDCT_US: An exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome has clinical characteristics of four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. | MONDO: Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.
+BMGC_DS12468,BMG_DS041295,"SNOMEDCT_US: Syndrome with characteristics of median cleft of upper lip, postaxial polydactyly of hands and feet and oral manifestations (duplicated frenulum). Less than 20 patients (predominantly of Indian origin) have been reported so far. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified. | MONDO: Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)."
+BMGC_DS12469,BMG_DS041296,SNOMEDCT_US: In postaxial polydactyly type B the extra digit is rudimentary and poorly developed.
+BMGC_DS12470,BMG_DS041297,"ORPHANET: A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to &lt;i&gt;MUC1&lt;/i&gt; mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years. | MONDO: An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function."
+BMGC_DS12471,BMG_DS041300,"MONDO: Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated."
+BMGC_DS12472,BMG_DS041301,
+BMGC_DS12473,BMG_DS041305,
+BMGC_DS12474,BMG_DS041306,
+BMGC_DS12475,BMG_DS041309,"MONDO: Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986."
+BMGC_DS12476,BMG_DS041310,"SNOMEDCT_US: A rare commonly bilateral and symmetric retinal disease with characteristics of non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of 'bone-corpuscle' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. There is evidence this disease is caused by heterozygous mutation in the CRB1 gene on chromosome 1q31. | MONDO: Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision."
+BMGC_DS12477,BMG_DS041311,"SNOMEDCT_US: A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. | MONDO: Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971."
+BMGC_DS12478,BMG_DS041313,
+BMGC_DS12479,BMG_DS041316,
+BMGC_DS12480,BMG_DS041317,
+BMGC_DS12481,BMG_DS041320,
+BMGC_DS12482,BMG_DS041321,
+BMGC_DS12483,BMG_DS041325,"SNOMEDCT_US: A rare focal skeletal dysostosis with characteristics of symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Approximately 10 patients have been reported so far. Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal. Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far. | MONDO: Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis."
+BMGC_DS12484,BMG_DS041326,
+BMGC_DS12485,BMG_DS041327,"ORPHANET: A rare, slowly progressive neurological disorder involving central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. | MONDO: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment."
+BMGC_DS12486,BMG_DS041328,
+BMGC_DS12487,BMG_DS041330,
+BMGC_DS12488,BMG_DS041331,"ORPHANET: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers). | MONDO: Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies."
+BMGC_DS12489,BMG_DS041333,"SNOMEDCT_US: A rare paroxysmal movement disorder with episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements). This is accompanied by ataxic symptoms (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. | MONDO: Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset."
+BMGC_DS12490,BMG_DS041334,HPO: Absence or underdevelopment of the patella. [https://orcid.org/0000-0002-0736-9199] | MONDO: Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
+BMGC_DS12491,BMG_DS041335,
+BMGC_DS12492,BMG_DS041336,
+BMGC_DS12493,BMG_DS041337,"ORPHANET: A rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. | MONDO: Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression."
+BMGC_DS12494,BMG_DS041338,"NCI: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the SNCA gene, encoding alpha-synuclein. Mutation(s) in the SNCA gene are responsible for PARK4 and Lewy body dementia, and have overlapping phenotypes."
+BMGC_DS12495,BMG_DS041340,"SNOMEDCT_US: A rare genetic bone development disorder with characteristics of parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. There is evidence the disease is caused by heterozygous mutation in the MSX2 gene on chromosome 5q35. | MONDO: Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported."
+BMGC_DS12496,BMG_DS041341,HPO: The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS12497,BMG_DS041342,MONDO: Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.
+BMGC_DS12498,BMG_DS041343,"SNOMEDCT_US: Parastremmatic dwarfism is a very rare chondrodysplasia with characteristics of severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). | MONDO: Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs."
+BMGC_DS12499,BMG_DS041344,"NCI: An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene. It is characterized by muscle stiffness, which is increased by exposure to cold but does not change to flaccid paralysis with intense cooling. | MeSH: Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition."
+BMGC_DS12500,BMG_DS041345,
+BMGC_DS12501,BMG_DS041346,"MONDO: A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis."
+BMGC_DS12502,BMG_DS041347,
+BMGC_DS12503,BMG_DS041353,"SNOMEDCT_US: Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance. | MONDO: Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus."
+BMGC_DS12504,BMG_DS041354,
+BMGC_DS12505,BMG_DS041355,"ORPHANET: A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy. | MONDO: Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene."
+BMGC_DS12506,BMG_DS041356,"NCI: An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PRKN gene, encoding E3 ubiquitin-protein ligase parkin. | MONDO: A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia."
+BMGC_DS12507,BMG_DS041357,
+BMGC_DS12508,BMG_DS041358,"NCI: Thanatophoric dysplasia characterized by a normally shaped skull and curved femurs. It is the most common type of thanatophoric dysplasia. | MONDO: Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly."
+BMGC_DS12509,BMG_DS041359,"NCI: A rare, autosomal recessive genetic syndrome caused by mutations in the RAB27A gene. It is characterized by hypopigmentation of the skin, hair and eyes, recurrent infections, neutropenia, and immune system abnormalities. Patients are prone to develop hemophagocytic lymphohistiocytosis. | MONDO: Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood."
+BMGC_DS12510,BMG_DS041360,"SNOMEDCT_US: Abrupt onset of dystonia with parkinsonism over a period of hours to days. | MONDO: Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress."
+BMGC_DS12511,BMG_DS041361,"ORPHANET: Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. | MONDO: Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements."
+BMGC_DS12512,BMG_DS041362,
+BMGC_DS12513,BMG_DS041363,"ORPHANET: A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). | MONDO: Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)."
+BMGC_DS12514,BMG_DS041364,
+BMGC_DS12515,BMG_DS041365,"NCI: A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. | MONDO: A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis."
+BMGC_DS12516,BMG_DS041368,"MONDO: Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. | MeSH: A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches."
+BMGC_DS12517,BMG_DS041371,"MONDO: A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes."
+BMGC_DS12518,BMG_DS041374,"NCI: A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities. | MONDO: Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases)."
+BMGC_DS12519,BMG_DS041375,
+BMGC_DS12520,BMG_DS041378,"MeSH: Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen. | MeSH: The autosomal recessive form of Weill-Marchesani syndrome is associated with Fibrillin gene mutations."
+BMGC_DS12521,BMG_DS041379,"MONDO: A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome. | MeSH: The autosomal dominant form of Weill-Marchesani syndrome is associated with Adamts10 gene mutations. | MeSH: Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen."
+BMGC_DS12522,BMG_DS041380,
+BMGC_DS12523,BMG_DS041381,"ORPHANET: Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation. | MONDO: Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation."
+BMGC_DS12524,BMG_DS041382,MONDO: A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.
+BMGC_DS12525,BMG_DS041383,
+BMGC_DS12526,BMG_DS041384,"SNOMEDCT_US: A limb girdle muscular dystrophy characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy."
+BMGC_DS12527,BMG_DS041385,"MONDO: A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
+BMGC_DS12528,BMG_DS041387,
+BMGC_DS12529,BMG_DS041392,
+BMGC_DS12530,BMG_DS041393,"SNOMEDCT_US: A rare genetic persistent combined dystonia with characteristics of clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present with extrapyramidal signs, such as resting tremor, choreoathetosis and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. | MONDO: Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present."
+BMGC_DS12531,BMG_DS041395,
+BMGC_DS12532,BMG_DS041396,
+BMGC_DS12533,BMG_DS041397,
+BMGC_DS12534,BMG_DS041398,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.
+BMGC_DS12535,BMG_DS041399,"MONDO: A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet."
+BMGC_DS12536,BMG_DS041400,
+BMGC_DS12537,BMG_DS041401,"NCI: An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone."
+BMGC_DS12538,BMG_DS041402,"ORPHANET: A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement. | MONDO: A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement."
+BMGC_DS12539,BMG_DS041404,NCI: An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block. | MONDO: An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.
+BMGC_DS12540,BMG_DS041405,"ORPHANET: A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly. | MONDO: An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001)"
+BMGC_DS12541,BMG_DS041408,HPO: An increased concentration of tyrosine in the blood. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS12542,BMG_DS041414,"HPO: Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. [https://orcid.org/0000-0002-0736-9199, PMID:15763524]"
+BMGC_DS12543,BMG_DS041421,NCI: A malignant neoplasm arising from the uterine corpus. This category includes endometrial carcinoma and carcinosarcoma. | MONDO: A malignant neoplasm involving the body of uterus.
+BMGC_DS12544,BMG_DS041431,"MONDO: HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors."
+BMGC_DS12545,BMG_DS041434,
+BMGC_DS12546,BMG_DS041445,ORPHANET: T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage. | MONDO: T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage.
+BMGC_DS12547,BMG_DS041446,MeSH: Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.
+BMGC_DS12548,BMG_DS041447,"MeSH: Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)"
+BMGC_DS12549,BMG_DS041449,"MONDO: Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins). | MeSH: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene."
+BMGC_DS12550,BMG_DS041451,"MONDO: Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. | MeSH: A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia."
+BMGC_DS12551,BMG_DS041452,"MONDO: Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. | MeSH: A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as Greek helmet face - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS."
+BMGC_DS12552,BMG_DS041453,"MeSH: A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2)."
+BMGC_DS12553,BMG_DS041454,"HPO: Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. [PMID:8779318] | MONDO: Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years."
+BMGC_DS12554,BMG_DS041456,MeSH: Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. Clinical manifestations may include HEADACHE; DYSKINESIAS; and HEMIPARESIS.
+BMGC_DS12555,BMG_DS041459,"NCI: Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets. | MONDO: A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow). | MeSH: The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete."
+BMGC_DS12556,BMG_DS041460,"MeSH: An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases."
+BMGC_DS12557,BMG_DS041461,"MONDO: Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) | MeSH: Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause."
+BMGC_DS12558,BMG_DS041462,MeSH: A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES.
+BMGC_DS12559,BMG_DS041464,"MeSH: A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)"
+BMGC_DS12560,BMG_DS041465,"MONDO: A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. | MeSH: A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmural infiltrate containing multinucleated GIANT CELLS. The TEMPORAL ARTERY is commonly involved. This disorder appears primarily in people over the age of 50. Symptoms include FEVER; FATIGUE; HEADACHE; visual impairment; pain in the jaw and tongue; and aggravation of pain by cold temperatures. (From Adams et al., Principles of Neurology, 6th ed)"
+BMGC_DS12561,BMG_DS041469,"MeSH: Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted."
+BMGC_DS12562,BMG_DS041473,"SNOMEDCT_US: A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. | MONDO: A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. | MeSH: A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE."
+BMGC_DS12563,BMG_DS041474,"MeSH: A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION."
+BMGC_DS12564,BMG_DS041478,"MONDO: Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. | MeSH: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity."
+BMGC_DS12565,BMG_DS041479,"SNOMEDCT_US: A rare, very severe form of mevalonate kinase deficiency with characteristics of dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. | MONDO: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. | MeSH: Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash."
+BMGC_DS12566,BMG_DS041484,
+BMGC_DS12567,BMG_DS041499,
+BMGC_DS12568,BMG_DS041545,"NCI: A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). | MONDO: A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER)."
+BMGC_DS12569,BMG_DS041558,"SNOMEDCT_US: Hereditary angioedema without abnormal C1 inhibitor levels or function. Found mostly in females in which symptoms may be triggered by pregnancy or estrogen-containing oral contraceptives. A few cases have been associated with gain of function mutations of coagulation factor XII | MONDO: A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation."
+BMGC_DS12570,BMG_DS041561,"HPO: Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. [PMID:16670098, PMID:25443708] | MONDO: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events."
+BMGC_DS12571,BMG_DS041572,"ORPHANET: A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. | MONDO: Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men."
+BMGC_DS12572,BMG_DS041593,
+BMGC_DS12573,BMG_DS041602,
+BMGC_DS12574,BMG_DS041621,
+BMGC_DS12575,BMG_DS041630,"MONDO: Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) | MeSH: A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common."
+BMGC_DS12576,BMG_DS041635,"MONDO: Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. | MeSH: This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry. | MeSH: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement."
+BMGC_DS12577,BMG_DS041641,"SNOMEDCT_US: Main features described as slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. Age of onset ranges from 18 to 45 years. Caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved. | MONDO: Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances."
+BMGC_DS12578,BMG_DS041652,"NCI: An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy. | MONDO: An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy."
+BMGC_DS12579,BMG_DS041653,
+BMGC_DS12580,BMG_DS041654,"MONDO: Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts."
+BMGC_DS12581,BMG_DS041655,"NCI: An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant."
+BMGC_DS12582,BMG_DS041656,MONDO: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene.
+BMGC_DS12583,BMG_DS041657,
+BMGC_DS12584,BMG_DS041658,MONDO: Any leprosy in which the cause of the disease is a mutation in the TLR2 gene.
+BMGC_DS12585,BMG_DS041659,
+BMGC_DS12586,BMG_DS041661,
+BMGC_DS12587,BMG_DS041662,
+BMGC_DS12588,BMG_DS041663,
+BMGC_DS12589,BMG_DS041666,
+BMGC_DS12590,BMG_DS041668,
+BMGC_DS12591,BMG_DS041669,ORPHANET: A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae. | MONDO: A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.
+BMGC_DS12592,BMG_DS041672,"MONDO: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene."
+BMGC_DS12593,BMG_DS041673,
+BMGC_DS12594,BMG_DS041674,
+BMGC_DS12595,BMG_DS041675,MONDO: A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.
+BMGC_DS12596,BMG_DS041676,
+BMGC_DS12597,BMG_DS041677,
+BMGC_DS12598,BMG_DS041678,
+BMGC_DS12599,BMG_DS041679,MONDO: A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.
+BMGC_DS12600,BMG_DS041680,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.
+BMGC_DS12601,BMG_DS041681,
+BMGC_DS12602,BMG_DS041684,
+BMGC_DS12603,BMG_DS041685,
+BMGC_DS12604,BMG_DS041686,
+BMGC_DS12605,BMG_DS041687,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy with characteristics of an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. | MONDO: A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases."
+BMGC_DS12606,BMG_DS041688,
+BMGC_DS12607,BMG_DS041689,
+BMGC_DS12608,BMG_DS041690,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
+BMGC_DS12609,BMG_DS041691,"NCI: An autosomal recessive sub-type of Joubert syndrome caused by mutation(s) in the RPGRIP1L gene, encoding a protein thought to function in programmed cell death. It is characterized by cerebellar and oculomotor apraxia, hypotonia and psychomotor delay, neonatal respiratory abnormalities, renal abnormalities, and retinal dystrophy. | MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene."
+BMGC_DS12610,BMG_DS041692,"MONDO: A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase."
+BMGC_DS12611,BMG_DS041693,
+BMGC_DS12612,BMG_DS041694,MONDO: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.
+BMGC_DS12613,BMG_DS041695,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the RAF1 gene, encoding RAF proto-oncogene serine/threonine-protein kinase. | MONDO: Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene."
+BMGC_DS12614,BMG_DS041696,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.
+BMGC_DS12615,BMG_DS041697,
+BMGC_DS12616,BMG_DS041698,"ORPHANET: A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss."
+BMGC_DS12617,BMG_DS041700,MONDO: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.
+BMGC_DS12618,BMG_DS041701,"SNOMEDCT_US: A rare form of pontocerebellar hypoplasia with characteristics at birth of hypotonia, clonus, epilepsy, impaired swallowing and from infancy progressive microcephaly, spasticity and lactic acidosis. Reported in less than 10 cases to date. Caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1. Prognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy. | MONDO: Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis."
+BMGC_DS12619,BMG_DS041702,"ORPHANET: A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses. | MONDO: Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene."
+BMGC_DS12620,BMG_DS041704,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.
+BMGC_DS12621,BMG_DS041705,MONDO: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.
+BMGC_DS12622,BMG_DS041706,
+BMGC_DS12623,BMG_DS041707,MONDO: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.
+BMGC_DS12624,BMG_DS041710,
+BMGC_DS12625,BMG_DS041711,
+BMGC_DS12626,BMG_DS041712,MeSH: Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease.
+BMGC_DS12627,BMG_DS041714,"NCI: A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death. | MONDO: Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.."
+BMGC_DS12628,BMG_DS041718,"NCI: An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures. | MONDO: An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures."
+BMGC_DS12629,BMG_DS041721,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.
+BMGC_DS12630,BMG_DS041722,"NCI: An inherited condition caused by autosomal dominant mutation(s) in the SPRED1 gene, encoding sprouty-related, EVH1 domain-containing protein 1. The condition resembles neurofibromatosis type I but is less severe. Affected individuals may present with multiple cafe-au-lait spots, variable dysmorphic features, including hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. | MONDO: Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling."
+BMGC_DS12631,BMG_DS041724,"NCI: An genetic condition that is a subtype of dilated cardiomyopathy caused by mutation(s) in the VCL gene, encoding vinculin. | MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene."
+BMGC_DS12632,BMG_DS041726,
+BMGC_DS12633,BMG_DS041727,"SNOMEDCT_US: A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leukoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. | MONDO: Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene."
+BMGC_DS12634,BMG_DS041730,MONDO: Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.
+BMGC_DS12635,BMG_DS041731,"SNOMEDCT_US: A rare genetic congenital limb malformation disorder with characteristics of hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. There is evidence this disease is caused by mutations in the bone morphogenetic protein antagonist Noggin (NOG). | MONDO: Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness."
+BMGC_DS12636,BMG_DS041732,
+BMGC_DS12637,BMG_DS041733,"SNOMEDCT_US: Identified in Israeli Bedouin kindred the phenotype is similar to that of Lethal congenital contracture syndrome type 2 but without distended bladder. Affected individuals are born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. | MONDO: Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement."
+BMGC_DS12638,BMG_DS041734,
+BMGC_DS12639,BMG_DS041735,MONDO: Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.
+BMGC_DS12640,BMG_DS041736,
+BMGC_DS12641,BMG_DS041737,MONDO: Autosomal recessive form of persistent hyperplastic primary vitreous.
+BMGC_DS12642,BMG_DS041739,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy most often with characteristics of an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. | MONDO: A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood."
+BMGC_DS12643,BMG_DS041740,"NCI: An autosomal recessive condition caused by mutation(s) in the KIF1C gene, encoding kinesin-like protein KIF1C. It is characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. | MONDO: Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs."
+BMGC_DS12644,BMG_DS041741,"MONDO: Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia."
+BMGC_DS12645,BMG_DS041742,
+BMGC_DS12646,BMG_DS041743,"NCI: An inherited condition caused by mutation(s) in the ACAD8 gene, encoding isobutyryl-CoA dehydrogenase, mitochondrial. It is characterized by decreased concentrations of carnitine in the blood, encephalopathy, dilated cardiomyopathy, and anemia. | MONDO: An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)."
+BMGC_DS12647,BMG_DS041744,"MONDO: A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype."
+BMGC_DS12648,BMG_DS041745,
+BMGC_DS12649,BMG_DS041749,
+BMGC_DS12650,BMG_DS041752,MONDO: Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.
+BMGC_DS12651,BMG_DS041753,"SNOMEDCT_US: A rare complex type of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. | MONDO: Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21."
+BMGC_DS12652,BMG_DS041755,"SNOMEDCT_US: Belongs to the genetically heterogeneous group of Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy diseases, rare with only five patients reported in the literature so far. The syndrome has characteristics of rapidly progressive, asymmetric motor neuron degeneration with slow nerve conduction velocities, weakness and paralysis, without sensory loss. It is caused by mutations in the FIG4 gene (6q21). This gene encodes the enzyme polyphosphoinositide phosphatase. Transmitted in an autosomal recessive manner. | MONDO: Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."
+BMGC_DS12653,BMG_DS041757,
+BMGC_DS12654,BMG_DS041758,"SNOMEDCT_US: Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus. | MONDO: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products."
+BMGC_DS12655,BMG_DS041759,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2."
+BMGC_DS12656,BMG_DS041760,
+BMGC_DS12657,BMG_DS041763,
+BMGC_DS12658,BMG_DS041764,"SNOMEDCT_US: A rare genetic autosomal dominant spastic ataxia disorder with characteristics of lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances. Caused by heterozygous mutation in the VAMP1 gene on chromosome 12p13. | MONDO: Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene."
+BMGC_DS12659,BMG_DS041765,"ORPHANET: A rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. | MONDO: Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all."
+BMGC_DS12660,BMG_DS041768,"SNOMEDCT_US: Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern."
+BMGC_DS12661,BMG_DS041769,
+BMGC_DS12662,BMG_DS041774,"MONDO: A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31."
+BMGC_DS12663,BMG_DS041776,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.
+BMGC_DS12664,BMG_DS041778,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.
+BMGC_DS12665,BMG_DS041779,"SNOMEDCT_US: A rare disorder leading to a deficiency of complex I of the respiratory chain with characteristics of neurological dysfunction, hepatic failure and cardiomyopathy. Caused by a mutation in the ACAD9 gene (3q21.3) that encodes the protein ACAD9. This protein has only relatively recently been described but is quite widely expressed in tissues and has activity as an acyl-CoA dehydrogenase with overlapping substrate specificity with very long-chain acyl-CoA dehydrogenase (VLCAD). It also acts an assembly factor for complex I of the respiratory chain and therefore has a vital role in the production of a functioning mitochondrial respiratory chain. The mode of inheritance is autosomal recessive."
+BMGC_DS12666,BMG_DS041781,
+BMGC_DS12667,BMG_DS041782,"SNOMEDCT_US: This disease has characteristics of progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. Onset occurs in early childhood. Epilepsy and cognitive decline have also been described. The syndrome is caused by mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. Transmission is autosomal recessive. | MONDO: This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter."
+BMGC_DS12668,BMG_DS041783,SNOMEDCT_US: Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. | MONDO: Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
+BMGC_DS12669,BMG_DS041785,
+BMGC_DS12670,BMG_DS041786,
+BMGC_DS12671,BMG_DS041787,
+BMGC_DS12672,BMG_DS041788,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.
+BMGC_DS12673,BMG_DS041789,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.
+BMGC_DS12674,BMG_DS041790,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.
+BMGC_DS12675,BMG_DS041791,
+BMGC_DS12676,BMG_DS041792,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others. | MONDO: A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3."
+BMGC_DS12677,BMG_DS041793,MONDO: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.
+BMGC_DS12678,BMG_DS041795,"SNOMEDCT_US: A rare genetic neuromuscular disease characterised by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalised areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalised weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36. | MONDO: A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported."
+BMGC_DS12679,BMG_DS041796,MONDO: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.
+BMGC_DS12680,BMG_DS041798,MONDO: Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.
+BMGC_DS12681,BMG_DS041799,
+BMGC_DS12682,BMG_DS041800,MONDO: A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.
+BMGC_DS12683,BMG_DS041801,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.
+BMGC_DS12684,BMG_DS041802,
+BMGC_DS12685,BMG_DS041803,
+BMGC_DS12686,BMG_DS041806,
+BMGC_DS12687,BMG_DS041807,"SNOMEDCT_US: An extremely rare form of serine deficiency syndrome with clinical manifestations in the two reported cases to date of acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. | MONDO: Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia."
+BMGC_DS12688,BMG_DS041808,MONDO: Any leprosy in which the cause of the disease is a mutation in the LTA gene.
+BMGC_DS12689,BMG_DS041809,"SNOMEDCT_US: A rare disorder with characteristics of congenital hypothyroidism, infant respiratory distress syndrome and benign hereditary chorea. Prevalence is unknown but to date about 50 cases have been reported in the literature.The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated benign hereditary chorea (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3). | MONDO: Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC)."
+BMGC_DS12690,BMG_DS041810,
+BMGC_DS12691,BMG_DS041811,MONDO: Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene.
+BMGC_DS12692,BMG_DS041812,MONDO: Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene.
+BMGC_DS12693,BMG_DS041813,"ORPHANET: A rare autosomal recessive form of proximal renal tubular acidosis characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage. Presentation is typically with hyperchloremic acidosis, usually occurring in childhood. Extrarenal manifestations include ocular abnormalities (band keratopathy, glaucoma, and cataracts), intellectual disability and severe growth retardation. Other features like dental enamel defects, basal ganglia calcification and pancreatitis are sometimes present. | MONDO: Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features."
+BMGC_DS12694,BMG_DS041815,"SNOMEDCT_US: An extremely rare form of carbohydrate deficient glycoprotein syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage. | MONDO: SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage."
+BMGC_DS12695,BMG_DS041816,
+BMGC_DS12696,BMG_DS041817,"NCI: An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems. | MONDO: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13."
+BMGC_DS12697,BMG_DS041818,"NCI: An autosomal dominant condition caused by mutation(s) on the TCF4 gene, encoding transcription factor 4. It is characterized by intellectual disability, developmental delay, breathing problems and seizures. | MONDO: Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing."
+BMGC_DS12698,BMG_DS041820,MONDO: Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.
+BMGC_DS12699,BMG_DS041821,MONDO: Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.
+BMGC_DS12700,BMG_DS041822,MONDO: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene.
+BMGC_DS12701,BMG_DS041823,"NCI: An autosomal recessive condition caused by mutation(s) in the ABCA3 gene, encoding ATP-binding cassette sub-family A member 3. It is characterized by severe respiratory insufficiency or failure in neonates or infants. | MONDO: Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
+BMGC_DS12702,BMG_DS041824,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.
+BMGC_DS12703,BMG_DS041826,"ORPHANET: A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications."
+BMGC_DS12704,BMG_DS041827,ORPHANET: A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency. | MONDO: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).
+BMGC_DS12705,BMG_DS041831,"MONDO: Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. | MeSH: An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)"
+BMGC_DS12706,BMG_DS041832,MONDO: Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.
+BMGC_DS12707,BMG_DS041834,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.
+BMGC_DS12708,BMG_DS041837,"SNOMEDCT_US: A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumours, possibly associated with adrenal, renal, and reproductive organ tumours. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. | MONDO: Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors."
+BMGC_DS12709,BMG_DS041838,
+BMGC_DS12710,BMG_DS041839,MONDO: Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.
+BMGC_DS12711,BMG_DS041842,
+BMGC_DS12712,BMG_DS041843,MONDO: Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.
+BMGC_DS12713,BMG_DS041844,"SNOMEDCT_US: An X-linked disorder of purine metabolism comprised of two forms: an early-onset severe form with characteristics of gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).The disease is due to overactivity of ribose-phosphate pyrophosphokinase 1 (PRS-I), an enzyme involved in the synthesis of PRPP, a cofactor involved in the synthesis of purine and pyrimidine nucleotides. PRS-I overactivity results in the overproduction of purine nucleotides and uric acid. In the severe form, PRS-I overactivity is due to gain-of-function point mutations in the open reading frame of the PRSP1 gene (Xq22.3) encoding PRS-I, that lead to defective allosteric control of PRS-I isoform activity. | MONDO: Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity)."
+BMGC_DS12714,BMG_DS041845,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.
+BMGC_DS12715,BMG_DS041846,"NCI: An X-linked recessive inherited disorder caused by mutations in the PGK1 gene. Clinical manifestations include hemolytic anemia, myopathy, and neurologic involvement. | MONDO: Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities."
+BMGC_DS12716,BMG_DS041847,MONDO: Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene.
+BMGC_DS12717,BMG_DS041848,MONDO: Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene.
+BMGC_DS12718,BMG_DS041859,
+BMGC_DS12719,BMG_DS041954,
+BMGC_DS12720,BMG_DS041958,
+BMGC_DS12721,BMG_DS041996,
+BMGC_DS12722,BMG_DS042014,"ORPHANET: A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). | MONDO: Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)."
+BMGC_DS12723,BMG_DS042157,
+BMGC_DS12724,BMG_DS042159,"HPO: Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain. [PMID:30306080] | MONDO: Disease of the large or small intestine that is caused by inadequate blood supply."
+BMGC_DS12725,BMG_DS042256,"NCI: An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen. | MONDO: An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen."
+BMGC_DS12726,BMG_DS042282,NCI: A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor. | MONDO: A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.
+BMGC_DS12727,BMG_DS042286,
+BMGC_DS12728,BMG_DS042308,"NCI: Group B Streptococcus, also known as Streptococcus agalactiae, colonizes the vaginal and gastrointestinal tracts of up to 45% of healthy women and may infect neonates in utero or during delivery, causing neonatal sepsis in 1-2% of colonized neonates. GBS infection may also occur in nonpregnant (particularly elderly) adults with underlying medical conditions, presenting as urinary tract infection, pneumonia, or soft-tissue infection. | MONDO: A disease caused by infection with Group B Streptococcus. | MeSH: Infections with bacteria of the genus STREPTOCOCCUS."
+BMGC_DS12729,BMG_DS042349,NCI: A diffuse large B-cell lymphoma arising from the central nervous system. | MONDO: A diffuse large B-cell lymphoma arising from the central nervous system.
+BMGC_DS12730,BMG_DS042351,"ORPHANET: A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade. | MONDO: A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency."
+BMGC_DS12731,BMG_DS042352,MONDO: Infections with bacteria of the genus haemophilus. | MeSH: Infections with bacteria of the genus HAEMOPHILUS.
+BMGC_DS12732,BMG_DS042357,"NCI: A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. One third of cases are metastatic at the time of diagnosis. | MONDO: A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome."
+BMGC_DS12733,BMG_DS042390,
+BMGC_DS12734,BMG_DS042400,
+BMGC_DS12735,BMG_DS042403,"HPO: A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus"") a caved-in (""excavatum"") appearance."" [https://orcid.org/0000-0002-0736-9199] | MONDO: A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax."
+BMGC_DS12736,BMG_DS042428,"ORPHANET: A form of testicular germ cell tumor occurring in the third decade of life with a usually painless unilateral mass in the scrotum or, in some cases, with gynaecomastia and/or back and flack pain. The clinical course is more aggressive than testicular seminomatous germ cell tumors with rapid involvement of blood vessels and a poorer prognosis. Histologically, the tumour can be either undifferentiated (embryonal carcinoma), differentiated (teratoma, yolk sac tumor, choriocarcinoma), or can consist of a mixture of seminomatous and nonseminomatous components. | MONDO: A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms."
+BMGC_DS12737,BMG_DS042432,ORPHANET: Rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). | MONDO: Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia).
+BMGC_DS12738,BMG_DS042433,"SNOMEDCT_US: Adrenocorticotropic hormone independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome with characteristics of nodular enlargement of both adrenal glands that produce excess cortisol. The disease presents a bimodal age distribution with a rare subset presenting in the first years of life, particularly associated to McCune-Albright syndrome. Most patients present in their fifth or sixth decade. The adrenal glands can be massively enlarged bilaterally with the presence of numerous macronodules; however diffuse adrenal enlargement without nodules has been described. AIMAH is most often reported as sporadic but there are increasing reports of familial cases with autosomal dominant transmission. | MONDO: A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS."
+BMGC_DS12739,BMG_DS042442,
+BMGC_DS12740,BMG_DS042454,
+BMGC_DS12741,BMG_DS042466,"SNOMEDCT_US: A rare epithelial tumor of the pancreas with histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (less than 3 centimeters) are usually asymptomatic while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus. | MONDO: A mucinous cystadenocarcinoma that involves the pancreas."
+BMGC_DS12742,BMG_DS042469,"NCI: A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts. | MONDO: A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts."
+BMGC_DS12743,BMG_DS042584,MeSH: Pain during the period after surgery.
+BMGC_DS12744,BMG_DS042590,"NCI: An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness."
+BMGC_DS12745,BMG_DS042724,"NCI: Involuntary sudden, rapid, recurrent, nonrhythmic, stereotyped motor movement or vocalization. | MONDO: Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994)"
+BMGC_DS12746,BMG_DS042802,"NCI: A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. | MONDO: A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma."
+BMGC_DS12747,BMG_DS042808,"SNOMEDCT_US: A rare highly aggressive poorly differentiated ovarian neoplasm, often associated with paraneoplastic hypercalcaemia. It is usually diagnosed in childhood or young adulthood at an advanced stage and presents with abdominal or pelvic mass or, rarely, symptoms related to hypercalcaemia. Occasional familial cases have been reported. | MONDO: A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type."
+BMGC_DS12748,BMG_DS042926,"MeSH: Human BRUCELLA infection with pulmonary involvement such as EMPYEMA; LUNG ABSCESS; and PLEURAL EFFUSION. | MeSH: Infection caused by bacteria of the genus BRUCELLA mainly involving the MONONUCLEAR PHAGOCYTE SYSTEM. This condition is characterized by fever, weakness, malaise, and weight loss."
+BMGC_DS12749,BMG_DS042978,"MONDO: A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. | MeSH: A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested."
+BMGC_DS12750,BMG_DS042988,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.
+BMGC_DS12751,BMG_DS042994,
+BMGC_DS12752,BMG_DS043002,NCI: Detection of odors that are not present. | MeSH: Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.
+BMGC_DS12753,BMG_DS043004,"HPO: A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. [https://orcid.org/0000-0002-0736-9199] | MONDO: Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles."
+BMGC_DS12754,BMG_DS043005,"MONDO: A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. | MeSH: Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY)."
+BMGC_DS12755,BMG_DS043008,
+BMGC_DS12756,BMG_DS043031,"HPO: Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous. []"
+BMGC_DS12757,BMG_DS043032,"MONDO: A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image."
+BMGC_DS12758,BMG_DS043035,NCI: A rare hematologic disorder characterized by neutropenia lasting more than three months with no identifiable cause.
+BMGC_DS12759,BMG_DS043036,HPO: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. [https://orcid.org/0000-0002-0736-9199] | MeSH: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
+BMGC_DS12760,BMG_DS043039,"ORPHANET: Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often &gt;50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies."
+BMGC_DS12761,BMG_DS043043,"NCI: Less than normal weight gain in an infant or child, which may include poor linear and head growth."
+BMGC_DS12762,BMG_DS043094,"MONDO: Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). | MeSH: A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations."
+BMGC_DS12763,BMG_DS043123,NCI: Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. | MONDO: Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.
+BMGC_DS12764,BMG_DS043131,MeSH: Dilation of fetal KIDNEY PELVIS. It is a common PRENATAL ULTRASONOGRAPHY finding with no significant long-term sequelae.
+BMGC_DS12765,BMG_DS043157,"NCI: A systemic necrotizing vasculitis that typically affects the small and medium-sized muscular arteries. In some cases, however, microscopic vessels are also affected (e.g., in the kidneys), a condition that has been called microscopic polyarteritis or polyangiitis; this disorder is felt to be more closely associated with Wegener granulomatosis than to classic polyarteritis nodosa. | MONDO: Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs."
+BMGC_DS12766,BMG_DS043159,"NCI: Ventricular tachyarrhythmias occurring in association with short QT syndrome. | MONDO: A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified"
+BMGC_DS12767,BMG_DS043161,MeSH: MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction.
+BMGC_DS12768,BMG_DS043172,
+BMGC_DS12769,BMG_DS043203,MONDO: A dermatophytosis that involves the beard.
+BMGC_DS12770,BMG_DS043204,"MeSH: Inflammation involving the GLOTTIS or VOCAL CORDS and the subglottic larynx. Croup is characterized by a barking cough, HOARSENESS, and persistent inspiratory STRIDOR (a high-pitched breathing sound). It occurs chiefly in infants and children."
+BMGC_DS12771,BMG_DS043205,"MeSH: Inflammation involving the GLOTTIS or VOCAL CORDS and the subglottic larynx. Croup is characterized by a barking cough, HOARSENESS, and persistent inspiratory STRIDOR (a high-pitched breathing sound). It occurs chiefly in infants and children."
+BMGC_DS12772,BMG_DS043206,MeSH: Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.
+BMGC_DS12773,BMG_DS043209,"MeSH: A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS. | MeSH: A condition that is characterized by multiple sites of lymphoid infiltration, often with an aggressive, necrotizing lesion of the upper airway. The term was used as a synonym for lethal midline granuloma."
+BMGC_DS12774,BMG_DS043210,"MeSH: Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY."
+BMGC_DS12775,BMG_DS043211,"MeSH: Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY."
+BMGC_DS12776,BMG_DS043212,"MeSH: An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)."
+BMGC_DS12777,BMG_DS043214,"MeSH: A degenerative spinal disease that can involve any part of the VERTEBRA, the INTERVERTEBRAL DISK, and the surrounding soft tissue."
+BMGC_DS12778,BMG_DS043215,"MONDO: A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte). | MeSH: A degenerative joint disease involving the SPINE. It is characterized by progressive deterioration of the spinal articular cartilage (CARTILAGE, ARTICULAR), usually with hardening of the subchondral bone and outgrowth of bone spurs (OSTEOPHYTE)."
+BMGC_DS12779,BMG_DS043218,"MeSH: Damage to any compartment of the lung caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction. These inflammatory reactions can either be acute and dominated by NEUTROPHILS, or chronic and dominated by LYMPHOCYTES and MACROPHAGES."
+BMGC_DS12780,BMG_DS043228,"MeSH: Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors."
+BMGC_DS12781,BMG_DS043229,"MeSH: Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors."
+BMGC_DS12782,BMG_DS043230,"MeSH: Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors."
+BMGC_DS12783,BMG_DS043231,"MeSH: Disease resulting from exposure to beryllium. Entry into the body is not limited to the inhalation route. | MeSH: A form of pneumoconiosis caused by inhaled rare metal BERYLLIUM or its soluble salts which are used in a wide variety of industry including alloys, ceramics, radiographic equipment, and vacuum tubes. Berylliosis is characterized by an acute inflammatory reaction in the upper airway leading to BRONCHIOLITIS; PULMONARY EDEMA; and pneumonia."
+BMGC_DS12784,BMG_DS043232,MeSH: Inflammation of the BRONCHIOLES leading to an obstructive lung disease. Bronchioles are characterized by fibrous granulation tissue with bronchial exudates in the lumens. Clinical features include a nonproductive cough and DYSPNEA.
+BMGC_DS12785,BMG_DS043233,MeSH: Inflammation of the BRONCHIOLES leading to an obstructive lung disease. Bronchioles are characterized by fibrous granulation tissue with bronchial exudates in the lumens. Clinical features include a nonproductive cough and DYSPNEA.
+BMGC_DS12786,BMG_DS043234,MeSH: Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions.
+BMGC_DS12787,BMG_DS043235,"MeSH: A condition characterized by infiltration of the lung with EOSINOPHILS due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents."
+BMGC_DS12788,BMG_DS043236,MeSH: A form that is histologically characterized by intraluminal polyps of organizing connective tissue. | MeSH: Inflammation of the BRONCHIOLES leading to an obstructive lung disease. Bronchioles are characterized by fibrous granulation tissue with bronchial exudates in the lumens. Clinical features include a nonproductive cough and DYSPNEA.
+BMGC_DS12789,BMG_DS043242,"SNOMEDCT_US: Body mass index at or above 95th percentile as compared to children of the same age and sex | MeSH: BODY MASS INDEX in children (ages 2-12) and in adolescents (ages 13-18) that is grossly above the recommended cut-off for a specific age and sex. For infants less than 2 years of age, obesity is determined based on standard weight-for-length percentile measures."
+BMGC_DS12790,BMG_DS043248,
+BMGC_DS12791,BMG_DS043249,
+BMGC_DS12792,BMG_DS043251,"NCI: A neurological disorder of childhood characterized by partial seizures consisting of twitching, numbness, or tingling of the face or tongue that often progress to secondary generalized seizures. | MeSH: An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and DYSARTHRIA. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)"
+BMGC_DS12793,BMG_DS043252,"MONDO: A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line. | MeSH: A lymphoid leukemia characterized by a profound LYMPHOCYTOSIS with or without LYMPHADENOPATHY, hepatosplenomegaly, frequently rapid progression, and short survival. It was formerly called T-cell chronic lymphocytic leukemia."
+BMGC_DS12794,BMG_DS043256,HPO: A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. [https://www.aoa.org/] | MeSH: Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in  REFRACTIVE ERROR.
+BMGC_DS12795,BMG_DS043257,"NCI: A WHO grade 1, slow-growing brain neoplasm of children and young adults, associated with epilepsy. Morphologically it is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. | MONDO: Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis."
+BMGC_DS12796,BMG_DS043259,"SNOMEDCT_US: The persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries, leading to an increase in pulmonary vascular resistance and progressive right heart failure."
+BMGC_DS12797,BMG_DS043270,
+BMGC_DS12798,BMG_DS043283,ORPHANET: An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. | MONDO: Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.
+BMGC_DS12799,BMG_DS043284,MONDO: An instance of thrombophilia that is inherited.
+BMGC_DS12800,BMG_DS043296,ORPHANET: Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. | MONDO: Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.
+BMGC_DS12801,BMG_DS043308,"NCI: A group of conditions characterized by impaired platelet function, which may be suggested by clinical evidence of bleeding in the setting of a normal platelet count."
+BMGC_DS12802,BMG_DS043340,"ORPHANET: Hereditary thrombophilia due to congenital antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)."
+BMGC_DS12803,BMG_DS043352,"NCI: Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. | MONDO: Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life."
+BMGC_DS12804,BMG_DS043353,"MONDO: Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene. | MeSH: Autosomal dominant syndrome characterized by cardiac and cutaneous MYXOMAS; LENTIGINOSIS (spotty pigmentation of the skin), and endocrinopathy and its associated endocrine tumors. The cardiac myxomas may lead to SUDDEN CARDIAC DEATH and other complications in Carney complex patients. The gene coding for the PRKAR1A protein is one of the causative genetic loci (type 1). A second locus is at chromosome 2p16 (type 2)."
+BMGC_DS12805,BMG_DS043356,HPO: A unilateral absence of sensory perception of sound. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS12806,BMG_DS043358,"ORPHANET: A rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts. | MONDO: Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts."
+BMGC_DS12807,BMG_DS043359,"NCI: Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999). | MONDO: Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999)."
+BMGC_DS12808,BMG_DS043360,NCI: Renal cell carcinoma that has developed in relatives of patients with history of renal cell carcinoma. | MONDO: An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome.
+BMGC_DS12809,BMG_DS043361,
+BMGC_DS12810,BMG_DS043362,
+BMGC_DS12811,BMG_DS043363,
+BMGC_DS12812,BMG_DS043364,"MONDO: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene."
+BMGC_DS12813,BMG_DS043367,"ORPHANET: A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands. | MONDO: Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS)."
+BMGC_DS12814,BMG_DS043369,"MONDO: Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. | MeSH: Chronic pancreatitis associated with autoimmune diseases."
+BMGC_DS12815,BMG_DS043373,"SNOMEDCT_US: The association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. Patients present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree. A defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity. | MONDO: Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years."
+BMGC_DS12816,BMG_DS043377,"MONDO: Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. | MeSH: Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions."
+BMGC_DS12817,BMG_DS043379,MONDO: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
+BMGC_DS12818,BMG_DS043380,MONDO: Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.
+BMGC_DS12819,BMG_DS043381,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.
+BMGC_DS12820,BMG_DS043382,"ORPHANET: A rare multisystemic disease characterized by small-vessel brain disease, cerebral aneurysm, and extracerebral findings involving the kidney, muscle, and small vessels of the eye. | MONDO: A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures."
+BMGC_DS12821,BMG_DS043383,"ORPHANET: A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed."
+BMGC_DS12822,BMG_DS043384,NCI: An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. | MONDO: An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.
+BMGC_DS12823,BMG_DS043386,
+BMGC_DS12824,BMG_DS043387,"SNOMEDCT_US: A rare genetic neuronal ceroid lipofuscinosis disorder with characteristics of infantile to early childhood onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Caused by homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11. | MONDO: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene."
+BMGC_DS12825,BMG_DS043388,SNOMEDCT_US: Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement.
+BMGC_DS12826,BMG_DS043389,
+BMGC_DS12827,BMG_DS043390,"MONDO: Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
+BMGC_DS12828,BMG_DS043391,"ORPHANET: A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization &lt;i&gt;in utero&lt;/i&gt; due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. | MONDO: A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth."
+BMGC_DS12829,BMG_DS043393,MONDO: This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.
+BMGC_DS12830,BMG_DS043394,
+BMGC_DS12831,BMG_DS043395,"MONDO: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene."
+BMGC_DS12832,BMG_DS043396,MONDO: Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
+BMGC_DS12833,BMG_DS043397,
+BMGC_DS12834,BMG_DS043400,
+BMGC_DS12835,BMG_DS043401,
+BMGC_DS12836,BMG_DS043402,"MONDO: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene."
+BMGC_DS12837,BMG_DS043404,MONDO: Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.
+BMGC_DS12838,BMG_DS043405,"SNOMEDCT_US: This syndrome is characterised by severe hypotonia, lactic acidaemia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene on chromosome 3q23, encoding a mitochondrial ribosomal protein. | MONDO: This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia."
+BMGC_DS12839,BMG_DS043406,MONDO: Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.
+BMGC_DS12840,BMG_DS043407,"SNOMEDCT_US: An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet. | MONDO: Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)."
+BMGC_DS12841,BMG_DS043408,
+BMGC_DS12842,BMG_DS043409,"ORPHANET: A rare genetic neuromuscular disease characterized by neonatal or infancy onset of delayed motor development, generalized muscle weakness involving also the facial muscles, pseudohypertrophy of lower limb muscles, and joint contractures, associated with childhood onset of rapidly progressive dilated cardiomyopathy with arrhythmias leading to sudden cardiac death. Muscle biopsy in early childhood shows minicore-like lesions and centralized nuclei, with dystrophic features being more conspicuous in the second decade of life."
+BMGC_DS12843,BMG_DS043411,
+BMGC_DS12844,BMG_DS043412,"MONDO: Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported."
+BMGC_DS12845,BMG_DS043413,"NCI: An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. | MONDO: An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction."
+BMGC_DS12846,BMG_DS043414,
+BMGC_DS12847,BMG_DS043415,
+BMGC_DS12848,BMG_DS043417,
+BMGC_DS12849,BMG_DS043418,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene.
+BMGC_DS12850,BMG_DS043419,MONDO: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.
+BMGC_DS12851,BMG_DS043420,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis syndrome with the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. | MONDO: A rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes."
+BMGC_DS12852,BMG_DS043421,"SNOMEDCT_US: A rare genetic syndromic renal malformation with characteristics of cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis and absence of polydactyly. There is evidence the disease is caused by homozygous mutation in the NPHP3 gene on chromosome 3q22."
+BMGC_DS12853,BMG_DS043422,ORPHANET: A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.
+BMGC_DS12854,BMG_DS043423,
+BMGC_DS12855,BMG_DS043424,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.
+BMGC_DS12856,BMG_DS043425,
+BMGC_DS12857,BMG_DS043426,HPO: Underdevelopment of the fovea centralis. [https://orcid.org/0000-0002-0736-9199] | MONDO: Underdevelopment of the fovea centralis.
+BMGC_DS12858,BMG_DS043427,
+BMGC_DS12859,BMG_DS043428,
+BMGC_DS12860,BMG_DS043432,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.
+BMGC_DS12861,BMG_DS043435,"ORPHANET: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the &lt;i&gt;FGFR3&lt;/i&gt; gene; 4p16.3). | MONDO: A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)."
+BMGC_DS12862,BMG_DS043436,MONDO: Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.
+BMGC_DS12863,BMG_DS043437,MONDO: Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.
+BMGC_DS12864,BMG_DS043439,
+BMGC_DS12865,BMG_DS043440,
+BMGC_DS12866,BMG_DS043444,
+BMGC_DS12867,BMG_DS043447,
+BMGC_DS12868,BMG_DS043448,"MONDO: A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2."
+BMGC_DS12869,BMG_DS043451,"MONDO: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene."
+BMGC_DS12870,BMG_DS043453,"MeSH: A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists."
+BMGC_DS12871,BMG_DS043454,"SNOMEDCT_US: A very rare syndrome with characteristics of progressive loss of bone usually of the carpal and tarsal bones resulting in deformity and disability and accompanied by chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. There is evidence the disease is caused by heterozygous mutation in the MAFB gene on chromosome 20q12. | MONDO: Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities."
+BMGC_DS12872,BMG_DS043456,"SNOMEDCT_US: An extremely rare genetic disorder characterised by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinaemia. Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukaemia. Caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. The pattern of inheritance is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells. | MONDO: RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia."
+BMGC_DS12873,BMG_DS043457,
+BMGC_DS12874,BMG_DS043458,
+BMGC_DS12875,BMG_DS043459,"MONDO: Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment."
+BMGC_DS12876,BMG_DS043460,"MONDO: Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay."
+BMGC_DS12877,BMG_DS043461,"SNOMEDCT_US: A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. It has been described in 23 patients. The clinical phenotype is extremely variable. The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly rotated ears and high nasal bridge. Autism and gait ataxia have been noted occasionally. The syndrome is caused by a recurrent deletion of the 3q subtelomeric region. Most of the deletions appear de novo but a few of them were inherited from mildly or non-affected parents. | MONDO: 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features."
+BMGC_DS12878,BMG_DS043462,
+BMGC_DS12879,BMG_DS043463,"NCI: Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. | MONDO: Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina."
+BMGC_DS12880,BMG_DS043465,
+BMGC_DS12881,BMG_DS043468,"MONDO: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene."
+BMGC_DS12882,BMG_DS043469,"MONDO: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene."
+BMGC_DS12883,BMG_DS043470,
+BMGC_DS12884,BMG_DS043471,"ORPHANET: L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. | MONDO: L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy."
+BMGC_DS12885,BMG_DS043472,
+BMGC_DS12886,BMG_DS043474,"SNOMEDCT_US: This syndrome is characterised by exocrine pancreatic insufficiency, dyserythropoietic anaemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive. | MONDO: This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis."
+BMGC_DS12887,BMG_DS043475,"MONDO: An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene."
+BMGC_DS12888,BMG_DS043476,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.
+BMGC_DS12889,BMG_DS043477,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.
+BMGC_DS12890,BMG_DS043479,
+BMGC_DS12891,BMG_DS043480,MONDO: Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.
+BMGC_DS12892,BMG_DS043481,"MONDO: Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life."
+BMGC_DS12893,BMG_DS043482,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene.
+BMGC_DS12894,BMG_DS043483,"SNOMEDCT_US: An exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. | MONDO: Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia."
+BMGC_DS12895,BMG_DS043484,MONDO: Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.
+BMGC_DS12896,BMG_DS043485,"MONDO: Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality."
+BMGC_DS12897,BMG_DS043486,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.
+BMGC_DS12898,BMG_DS043487,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.
+BMGC_DS12899,BMG_DS043488,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.
+BMGC_DS12900,BMG_DS043489,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene.
+BMGC_DS12901,BMG_DS043490,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.
+BMGC_DS12902,BMG_DS043491,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.
+BMGC_DS12903,BMG_DS043492,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15.
+BMGC_DS12904,BMG_DS043496,"NCI: A syndrome caused by duplication of chromosome 15q11-q13. It is characterized by autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems. | MONDO: The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown."
+BMGC_DS12905,BMG_DS043497,"SNOMEDCT_US: The association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial, establishing a complementary duplication syndrome. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. | MONDO: The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome."
+BMGC_DS12906,BMG_DS043498,
+BMGC_DS12907,BMG_DS043499,
+BMGC_DS12908,BMG_DS043500,
+BMGC_DS12909,BMG_DS043502,SNOMEDCT_US: A rare haemolytic anaemia due to an erythrocyte nucleotide metabolism disorder characterised by moderate to severe chronic nonspherocytic haemolytic anaemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. | MONDO: Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
+BMGC_DS12910,BMG_DS043504,"MONDO: Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported."
+BMGC_DS12911,BMG_DS043505,"MONDO: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene."
+BMGC_DS12912,BMG_DS043506,"MONDO: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene."
+BMGC_DS12913,BMG_DS043508,"NCI: An autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder. | MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene."
+BMGC_DS12914,BMG_DS043511,
+BMGC_DS12915,BMG_DS043515,MONDO: Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.
+BMGC_DS12916,BMG_DS043520,"MONDO: Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism."
+BMGC_DS12917,BMG_DS043521,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene.
+BMGC_DS12918,BMG_DS043522,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.
+BMGC_DS12919,BMG_DS043523,"NCI: An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase. | MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene."
+BMGC_DS12920,BMG_DS043524,
+BMGC_DS12921,BMG_DS043525,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.
+BMGC_DS12922,BMG_DS043527,MONDO: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene.
+BMGC_DS12923,BMG_DS043528,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome 20q13.
+BMGC_DS12924,BMG_DS043529,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS7 gene, encoding 40S ribosomal protein S7. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene."
+BMGC_DS12925,BMG_DS043530,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPL11 gene, encoding 60S ribosomal protein L11. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene."
+BMGC_DS12926,BMG_DS043534,
+BMGC_DS12927,BMG_DS043535,
+BMGC_DS12928,BMG_DS043536,MONDO: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.
+BMGC_DS12929,BMG_DS043539,MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.
+BMGC_DS12930,BMG_DS043540,
+BMGC_DS12931,BMG_DS043541,"SNOMEDCT_US: A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. | MONDO: Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging."
+BMGC_DS12932,BMG_DS043542,
+BMGC_DS12933,BMG_DS043543,
+BMGC_DS12934,BMG_DS043545,"MONDO: Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen."
+BMGC_DS12935,BMG_DS043547,MONDO: Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.
+BMGC_DS12936,BMG_DS043549,
+BMGC_DS12937,BMG_DS043552,
+BMGC_DS12938,BMG_DS043553,"NCI: An autosomal dominant condition caused by mutation(s) in the ATP6V1B2 gene, encoding V-type proton ATPase subunit B, brain isoform. It is characterized by congenital deafness and onychodystrophy. | MONDO: Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges."
+BMGC_DS12939,BMG_DS043554,
+BMGC_DS12940,BMG_DS043555,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.
+BMGC_DS12941,BMG_DS043556,MONDO: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.
+BMGC_DS12942,BMG_DS043558,"MONDO: 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease."
+BMGC_DS12943,BMG_DS043559,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.
+BMGC_DS12944,BMG_DS043560,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPL35A gene, encoding 60S ribosomal protein L35a. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene."
+BMGC_DS12945,BMG_DS043561,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS17 gene, encoding 40S ribosomal protein S17. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene."
+BMGC_DS12946,BMG_DS043562,MONDO: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.
+BMGC_DS12947,BMG_DS043563,
+BMGC_DS12948,BMG_DS043564,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene.
+BMGC_DS12949,BMG_DS043566,MONDO: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene.
+BMGC_DS12950,BMG_DS043567,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.
+BMGC_DS12951,BMG_DS043568,
+BMGC_DS12952,BMG_DS043569,MONDO: 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
+BMGC_DS12953,BMG_DS043570,"MONDO: Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual."
+BMGC_DS12954,BMG_DS043571,ORPHANET: 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. | MONDO: 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
+BMGC_DS12955,BMG_DS043572,"NCI: A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. | MONDO: A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene."
+BMGC_DS12956,BMG_DS043573,MONDO: An inherited susceptibility or predisposition to developing schizophrenia.
+BMGC_DS12957,BMG_DS043576,"MONDO: Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date."
+BMGC_DS12958,BMG_DS043579,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS19 gene, encoding 40S ribosomal protein S19. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene."
+BMGC_DS12959,BMG_DS043581,"ORPHANET: A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain."
+BMGC_DS12960,BMG_DS043584,
+BMGC_DS12961,BMG_DS043585,MONDO: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene.
+BMGC_DS12962,BMG_DS043588,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.
+BMGC_DS12963,BMG_DS043589,"SNOMEDCT_US: A syndrome with the association of demyelinating leucodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. | MONDO: A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described."
+BMGC_DS12964,BMG_DS043590,"SNOMEDCT_US: Syndrome with characteristics of slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. So far, around 20 cases have been reported in the literature. The syndrome affects both males and females and onset occurs in infancy or early childhood. Caused by mutation in the TUBB4A gene on chromosome 19p13. | MONDO: A leukodystrophy characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria."
+BMGC_DS12965,BMG_DS043591,MONDO: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.
+BMGC_DS12966,BMG_DS043592,MONDO: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.
+BMGC_DS12967,BMG_DS043595,"MONDO: A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12."
+BMGC_DS12968,BMG_DS043596,"MONDO: A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features."
+BMGC_DS12969,BMG_DS043597,MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.
+BMGC_DS12970,BMG_DS043598,MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.
+BMGC_DS12971,BMG_DS043600,MONDO: Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.
+BMGC_DS12972,BMG_DS043601,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1.
+BMGC_DS12973,BMG_DS043602,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2.
+BMGC_DS12974,BMG_DS043604,MONDO: Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene.
+BMGC_DS12975,BMG_DS043605,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11.
+BMGC_DS12976,BMG_DS043606,
+BMGC_DS12977,BMG_DS043607,"SNOMEDCT_US: A subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2. | MONDO: Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers."
+BMGC_DS12978,BMG_DS043608,MONDO: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.
+BMGC_DS12979,BMG_DS043610,
+BMGC_DS12980,BMG_DS043612,MONDO: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.
+BMGC_DS12981,BMG_DS043614,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.
+BMGC_DS12982,BMG_DS043615,"SNOMEDCT_US: A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported. | MONDO: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15."
+BMGC_DS12983,BMG_DS043616,"MONDO: 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features."
+BMGC_DS12984,BMG_DS043619,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.
+BMGC_DS12985,BMG_DS043620,
+BMGC_DS12986,BMG_DS043621,MONDO: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.
+BMGC_DS12987,BMG_DS043622,
+BMGC_DS12988,BMG_DS043624,"SNOMEDCT_US: A rare condition with characteristics of intellectual disability, delayed development of speech and motor skills, hypotonia from birth, lethargy, weak cry, facial weakness, feeding difficulties, failure to thrive. Dysphagia often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanent contractures and scoliosis. Also associated with unusual facial features, cleft palate, long neck, narrow chest, tapered fingers. Caused by mutations in the KCNK9 gene, which alter TASK3 channels reducing the flow of ions through the channels and disrupting normal neuron development and excitability. Follows an autosomal dominant pattern of inheritance. About 20 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | MONDO: Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing)."
+BMGC_DS12989,BMG_DS043625,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene.
+BMGC_DS12990,BMG_DS043626,"MONDO: This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate."
+BMGC_DS12991,BMG_DS043627,"SNOMEDCT_US: A rare premature aging syndrome with characteristics of pre and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanelle and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. | MONDO: A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated."
+BMGC_DS12992,BMG_DS043628,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24.
+BMGC_DS12993,BMG_DS043629,
+BMGC_DS12994,BMG_DS043630,
+BMGC_DS12995,BMG_DS043631,"NCI: An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CC2D2A gene, encoding coiled-coil and C2 domain-containing protein 2A. | MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene."
+BMGC_DS12996,BMG_DS043632,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.
+BMGC_DS12997,BMG_DS043633,"MONDO: Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene."
+BMGC_DS12998,BMG_DS043634,
+BMGC_DS12999,BMG_DS043635,MONDO: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.
+BMGC_DS13000,BMG_DS043637,MONDO: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.
+BMGC_DS13001,BMG_DS043639,MONDO: Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene.
+BMGC_DS13002,BMG_DS043641,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1.
+BMGC_DS13003,BMG_DS043642,MONDO: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.
+BMGC_DS13004,BMG_DS043643,"MONDO: Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease."
+BMGC_DS13005,BMG_DS043644,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32.
+BMGC_DS13006,BMG_DS043645,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21.
+BMGC_DS13007,BMG_DS043647,MONDO: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene.
+BMGC_DS13008,BMG_DS043648,MONDO: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.
+BMGC_DS13009,BMG_DS043649,"SNOMEDCT_US: A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. | MONDO: Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN)."
+BMGC_DS13010,BMG_DS043650,MONDO: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.
+BMGC_DS13011,BMG_DS043651,MONDO: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.
+BMGC_DS13012,BMG_DS043653,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3
+BMGC_DS13013,BMG_DS043654,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene.
+BMGC_DS13014,BMG_DS043657,MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene.
+BMGC_DS13015,BMG_DS043658,
+BMGC_DS13016,BMG_DS043662,MONDO: Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.
+BMGC_DS13017,BMG_DS043664,MONDO: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the PAX4 gene.
+BMGC_DS13018,BMG_DS043665,"SNOMEDCT_US: This syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. | MONDO: Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive."
+BMGC_DS13019,BMG_DS043668,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene.
+BMGC_DS13020,BMG_DS043669,"ORPHANET: Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. | MONDO: Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease."
+BMGC_DS13021,BMG_DS043670,
+BMGC_DS13022,BMG_DS043671,MONDO: A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34.
+BMGC_DS13023,BMG_DS043672,"SNOMEDCT_US: Disorder with characteristics of recurrent seizures, encephalopathy, and intellectual disability with typical onset in infancy. In most cases, seizures cease by age one, however the other neurological symptoms persist. The most common seizures are infantile spasms, however other seizure types associated with this disease include myoclonic seizures, atonic seizures, absence seizures, tonic-clonic seizures. Most individuals have more than one type of seizure and they may be refractory. Caused by mutations in the STXBP1 gene. STXBP1 gene mutations reduce the amount of functional protein produced which impairs the release of neurotransmitters from neurons, a change in levels may result in seizures. Inherited in an autosomal dominant pattern however most cases result from de novo mutations. | MONDO: Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition."
+BMGC_DS13024,BMG_DS043675,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
+BMGC_DS13025,BMG_DS043676,"SNOMEDCT_US: A basal subtype of epidermolysis bullosa simplex characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive. | MONDO: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia."
+BMGC_DS13026,BMG_DS043677,MONDO: Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.
+BMGC_DS13027,BMG_DS043678,"NCI: A rare disorder caused by mutations in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections."
+BMGC_DS13028,BMG_DS043679,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
+BMGC_DS13029,BMG_DS043680,"MONDO: Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)."
+BMGC_DS13030,BMG_DS043681,
+BMGC_DS13031,BMG_DS043682,
+BMGC_DS13032,BMG_DS043683,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, alpha cardiac muscle 1. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene."
+BMGC_DS13033,BMG_DS043684,
+BMGC_DS13034,BMG_DS043685,
+BMGC_DS13035,BMG_DS043686,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene.
+BMGC_DS13036,BMG_DS043687,
+BMGC_DS13037,BMG_DS043688,"SNOMEDCT_US: A rare genetic neuro-endocrino-cutaneous disorder with characteristics of highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, microcephaly and kyphoscoliosis. There is evidence the disease is caused by homozygous mutation in the RBM28 gene on chromosome 7q32. | MONDO: ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis."
+BMGC_DS13038,BMG_DS043689,
+BMGC_DS13039,BMG_DS043690,"NCI: An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the TARDBP gene, encoding TAR DNA-binding protein 43. | MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene."
+BMGC_DS13040,BMG_DS043691,"SNOMEDCT_US: A very rare movement disorder with characteristics of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. Disease presents in infancy to late childhood with one of two possible phenotypes: either generalized dystonia or dystonia-parkinsonism not responsive to L-Dopa. Dystonia usually starts in one limb, becomes generalized and mainly affects the trunk, neck and oromandibular muscles. Motor and speech developmental delays were also reported. The phenotypic spectrum of this disease is still being determined. Caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA) gene, located on chromosome 2q31.2. Inherited in an autosomal recessive manner. | MONDO: Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism."
+BMGC_DS13041,BMG_DS043693,"SNOMEDCT_US: This syndrome has characteristics of progressive spastic paraplegia and distal muscle wasting. So far, it has been described in two families. All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein. | MONDO: This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting."
+BMGC_DS13042,BMG_DS043694,
+BMGC_DS13043,BMG_DS043696,SNOMEDCT_US: Syndrome with characteristics of childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present. The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene on chromosome 1q42 have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast. The syndrome is transmitted as an autosomal recessive trait. | MONDO: This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.
+BMGC_DS13044,BMG_DS043697,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). | MONDO: RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)."
+BMGC_DS13045,BMG_DS043698,
+BMGC_DS13046,BMG_DS043705,MONDO: Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene.
+BMGC_DS13047,BMG_DS043706,ORPHANET: 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. | MONDO: 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.
+BMGC_DS13048,BMG_DS043707,MONDO: A schizophrenia that has material basis in a mutation on chromosome 2q32.1.
+BMGC_DS13049,BMG_DS043708,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene.
+BMGC_DS13050,BMG_DS043709,
+BMGC_DS13051,BMG_DS043711,
+BMGC_DS13052,BMG_DS043712,
+BMGC_DS13053,BMG_DS043713,MONDO: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene.
+BMGC_DS13054,BMG_DS043717,MONDO: Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene.
+BMGC_DS13055,BMG_DS043720,"SNOMEDCT_US: A rare genetic primary immunodeficiency disorder with characteristics of increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D) and learning difficulties (LE). There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. | MONDO: An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29."
+BMGC_DS13056,BMG_DS043721,
+BMGC_DS13057,BMG_DS043722,"NCI: An autosomal recessive condition caused by mutation(s) in the CASQ2 gene, encoding calsequestrin-2. It is characterized by a relative resting bradycardia and a slight prolongation of the QTc interval. Polymorphic ventricular tachycardia may be induced with exercise stress testing or isoproterenol infusion. | MONDO: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene."
+BMGC_DS13058,BMG_DS043724,"SNOMEDCT_US: A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple naevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. | MONDO: Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age."
+BMGC_DS13059,BMG_DS043725,MONDO: Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.
+BMGC_DS13060,BMG_DS043726,"SNOMEDCT_US: An exceedingly rare form of hereditary episodic ataxia with characteristics of ataxia with weakness, vertigo, and dysarthria without interictal findings. | MONDO: Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings."
+BMGC_DS13061,BMG_DS043727,
+BMGC_DS13062,BMG_DS043728,
+BMGC_DS13063,BMG_DS043730,"NCI: An X-linked dominant porphyria caused by gain of function mutations in the ALAS2 gene, encoding 5'-aminolevulinate synthase 2 (5-aminolevulinate synthase, erythroid-specific, mitochondrial), which lead to overproduction of protoporphyrin and its accumulation in the blood, liver, and skin. Excess protoporphyrin in the blood may lead to iron deficient anemia, while accumulation in the liver may contribute to the formation of gallstones and subsequent obstruction of the bile ducts. Exposure to sunlight activates protoporphyrin in the skin, leading to severe pain, burning, and itching. | MONDO: X-linked form of erythropoietic protoporphyria."
+BMGC_DS13064,BMG_DS043731,"SNOMEDCT_US: A pure form of hereditary spastic paraplegia with late childhood to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. | MONDO: X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients."
+BMGC_DS13065,BMG_DS043732,"ORPHANET: Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. | MONDO: Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development."
+BMGC_DS13066,BMG_DS043733,
+BMGC_DS13067,BMG_DS043734,
+BMGC_DS13068,BMG_DS043735,
+BMGC_DS13069,BMG_DS043736,
+BMGC_DS13070,BMG_DS043737,"MONDO: X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported."
+BMGC_DS13071,BMG_DS043740,"ORPHANET: An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described. | MONDO: X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome."
+BMGC_DS13072,BMG_DS043741,"SNOMEDCT_US: Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function. | MONDO: This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia."
+BMGC_DS13073,BMG_DS043742,MONDO: An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.
+BMGC_DS13074,BMG_DS043744,"MONDO: X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems."
+BMGC_DS13075,BMG_DS043745,"MONDO: A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25."
+BMGC_DS13076,BMG_DS043746,"SNOMEDCT_US: A rare progressive muscular dystrophy characterised by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalised hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. | MONDO: X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. | MeSH: Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome."
+BMGC_DS13077,BMG_DS043747,"MONDO: X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging."
+BMGC_DS13078,BMG_DS043748,"NCI: An inherited or sporadic disorder affecting the skeletal muscles. | MONDO: Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients."
+BMGC_DS13079,BMG_DS043749,
+BMGC_DS13080,BMG_DS043750,"HPO: A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. [http://www.wikidata.org/entity/Q90573458, PMID:22427329, PMID:22473091]"
+BMGC_DS13081,BMG_DS043753,"NCI: An X-linked dominant condition caused by mutation(s) in the SLC9A6 gene, encoding sodium/hydrogen exchanger 6. It is characterized by intellectual disability, delayed development, and difficulty standing or walking. | MONDO: A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures."
+BMGC_DS13082,BMG_DS043754,
+BMGC_DS13083,BMG_DS043756,
+BMGC_DS13084,BMG_DS043757,
+BMGC_DS13085,BMG_DS043758,MONDO: Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.
+BMGC_DS13086,BMG_DS043759,MONDO: Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
+BMGC_DS13087,BMG_DS043761,
+BMGC_DS13088,BMG_DS043762,"MONDO: Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)."
+BMGC_DS13089,BMG_DS043764,
+BMGC_DS13090,BMG_DS043765,"SNOMEDCT_US: A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. | MONDO: Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis."
+BMGC_DS13091,BMG_DS043766,
+BMGC_DS13092,BMG_DS043767,"SNOMEDCT_US: A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the angiogenin gene (ANG) on chromosome 14q11. | MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene."
+BMGC_DS13093,BMG_DS043770,"ORPHANET: A rare arthrogryposis syndrome characterized by the association of arthrogryposis multiplex congenita and a severe form of motor neuron disease with loss of anterior horn cells in the spinal cord. Patients present with fetal akinesia deformation sequence with multiple contractures and facial anomalies, such as low-set ears, hypoplastic jaw, and short neck, as well as hypotonia and respiratory insufficiency. Some patients may survive into childhood and show developmental delay, markedly decreased muscle bulk, dystonic and involuntary movements, ataxia, and poor speech."
+BMGC_DS13094,BMG_DS043772,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.
+BMGC_DS13095,BMG_DS043773,MONDO: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.
+BMGC_DS13096,BMG_DS043774,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.
+BMGC_DS13097,BMG_DS043775,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.
+BMGC_DS13098,BMG_DS043776,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.
+BMGC_DS13099,BMG_DS043777,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.
+BMGC_DS13100,BMG_DS043778,MONDO: Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.
+BMGC_DS13101,BMG_DS043779,"MONDO: Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors."
+BMGC_DS13102,BMG_DS043780,"MONDO: This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct."
+BMGC_DS13103,BMG_DS043781,"NCI: An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the AKAP9 gene, encoding A-kinase anchor protein 9. | MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene."
+BMGC_DS13104,BMG_DS043782,MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.
+BMGC_DS13105,BMG_DS043783,MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.
+BMGC_DS13106,BMG_DS043784,"SNOMEDCT_US: A rare developmental anomaly syndrome with characteristics of severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. | MONDO: A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients."
+BMGC_DS13107,BMG_DS043785,"NCI: An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dysgenesis, due to mutation(s) in the WNT4 gene. | MONDO: SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs."
+BMGC_DS13108,BMG_DS043786,
+BMGC_DS13109,BMG_DS043787,MONDO: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.
+BMGC_DS13110,BMG_DS043788,MONDO: Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.
+BMGC_DS13111,BMG_DS043789,"SNOMEDCT_US: A rare complex hereditary spastic paraplegia with childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery) have also been reported. | MONDO: Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported."
+BMGC_DS13112,BMG_DS043790,
+BMGC_DS13113,BMG_DS043791,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.
+BMGC_DS13114,BMG_DS043792,
+BMGC_DS13115,BMG_DS043793,MONDO: Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
+BMGC_DS13116,BMG_DS043794,"NCI: The presence of ovarian and testicular tissue in the an individual with 46,XY karyotype. The anatomical expression of this condition is variable. | MONDO: 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated."
+BMGC_DS13117,BMG_DS043796,
+BMGC_DS13118,BMG_DS043797,"NCI: A genetically heterogenous syndrome characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones. | MONDO: Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. | MeSH: An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME."
+BMGC_DS13119,BMG_DS043798,NCI: A precursor lymphoid neoplasm composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It has a favorable clinical outcome.
+BMGC_DS13120,BMG_DS043799,NCI: A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome.
+BMGC_DS13121,BMG_DS043800,NCI: B-lymphoblastic leukemias/lymphomas characterized by the presence of recurring cytogenetic and/or molecular abnormalities.
+BMGC_DS13122,BMG_DS043801,NCI: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. | MONDO: A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.
+BMGC_DS13123,BMG_DS043805,"HPO: A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. [https://orcid.org/0009-0006-4530-3154] | MONDO: Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age."
+BMGC_DS13124,BMG_DS043807,NCI: A rare genetic disorder characterized by malformations in the hands and feet. The abnormalities include increased number of fingers and toes and fusion of digits into one large digit. | MONDO: A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).
+BMGC_DS13125,BMG_DS043811,"NCI: A rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum. | MONDO: Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum."
+BMGC_DS13126,BMG_DS043812,MONDO: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.
+BMGC_DS13127,BMG_DS043813,
+BMGC_DS13128,BMG_DS043814,"ORPHANET: A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. | MONDO: A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility."
+BMGC_DS13129,BMG_DS043815,
+BMGC_DS13130,BMG_DS043816,
+BMGC_DS13131,BMG_DS043819,"NCI: An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea. | MONDO: An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID). | MeSH: Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID)."
+BMGC_DS13132,BMG_DS043842,
+BMGC_DS13133,BMG_DS043846,"MONDO: A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. | MeSH: Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS."
+BMGC_DS13134,BMG_DS043852,NCI: An area of necrotic bone in the mandible or maxilla. | MONDO: An area of necrotic bone in the mandible or maxilla.
+BMGC_DS13135,BMG_DS043853,"ORPHANET: A rare urogenital condition characterized by a persistent unwanted painful erection that lasts more than 4 hours, caused by obstruction of the normal drainage of blood from the erectile tissues, leading to ischemia. It may be due to hematological diseases, metabolic or neurological disorders, and some erectile dysfunction medications. If the condition continues for several days, abnormal thickening and scarring of the erectile tissue may develop, causing permanent erectile dysfunction."
+BMGC_DS13136,BMG_DS043888,"HPO: A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. [PMID:23321211] | MONDO: A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern."
+BMGC_DS13137,BMG_DS043890,
+BMGC_DS13138,BMG_DS043904,
+BMGC_DS13139,BMG_DS043929,
+BMGC_DS13140,BMG_DS043934,"MeSH: An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms."
+BMGC_DS13141,BMG_DS043935,"MeSH: A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders."
+BMGC_DS13142,BMG_DS043936,"MeSH: An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY."
+BMGC_DS13143,BMG_DS043937,
+BMGC_DS13144,BMG_DS043938,"MeSH: A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)"
+BMGC_DS13145,BMG_DS043939,"MeSH: Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease."
+BMGC_DS13146,BMG_DS043940,"MONDO: Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene. | MeSH: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood."
+BMGC_DS13147,BMG_DS043941,"MeSH: A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood."
+BMGC_DS13148,BMG_DS043942,"MeSH: A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION."
+BMGC_DS13149,BMG_DS043943,"MeSH: An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE."
+BMGC_DS13150,BMG_DS043944,"MeSH: A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption."
+BMGC_DS13151,BMG_DS043945,"MeSH: A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY."
+BMGC_DS13152,BMG_DS043949,"MeSH: A rare, inherited platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with THROMBOCYTOPENIA, enlarged platelets, and prolonged bleeding time."
+BMGC_DS13153,BMG_DS043952,"MeSH: Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency."
+BMGC_DS13154,BMG_DS043953,"MeSH: Liver disease lasting six months or more, caused by an adverse effect of a drug or chemical. The adverse effect may be caused by drugs, drug metabolites, chemicals from the environment, or an idiosyncratic response."
+BMGC_DS13155,BMG_DS043954,"MeSH: Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency."
+BMGC_DS13156,BMG_DS043958,"MeSH: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia."
+BMGC_DS13157,BMG_DS043959,"MONDO: Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. | MeSH: Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY."
+BMGC_DS13158,BMG_DS043960,MeSH: Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
+BMGC_DS13159,BMG_DS043961,"MONDO: Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. | MeSH: Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein."
+BMGC_DS13160,BMG_DS043962,"MeSH: Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen."
+BMGC_DS13161,BMG_DS043966,"NCI: A microvascular coagulopathy that may result from systemic vascular endothelial injury triggering the development of a procoagulant state, activation of the complement cascade, and microthrombi formation. Signs may include hemolytic anemia, thrombocytopenia, hypertension and renal dysfunction. | MONDO: The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. | MeSH: Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation."
+BMGC_DS13162,BMG_DS043972,"MeSH: Lipid infiltration of the hepatic parenchymal cells that is due to ALCOHOL ABUSE. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of TRIGLYCERIDES accumulated."
+BMGC_DS13163,BMG_DS043973,"MeSH: An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)"
+BMGC_DS13164,BMG_DS043974,MeSH: An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
+BMGC_DS13165,BMG_DS043976,"MeSH: Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15."
+BMGC_DS13166,BMG_DS043977,"MeSH: Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency."
+BMGC_DS13167,BMG_DS043978,"MONDO: Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous or homozygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) will clinically manifest CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for severe neonatal jaundice and acute exacerbation of their chronic hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans."
+BMGC_DS13168,BMG_DS043979,
+BMGC_DS13169,BMG_DS043996,"NCI: A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception."
+BMGC_DS13170,BMG_DS044037,"MeSH: Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts (see LACUNAR INFARCTION); LEUKOARAIOSIS; and CEREBRAL HEMORRHAGE."
+BMGC_DS13171,BMG_DS044060,
+BMGC_DS13172,BMG_DS044061,
+BMGC_DS13173,BMG_DS044069,"SNOMEDCT_US: A genetic macular dystrophy with characteristics of loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Onset is in childhood and sometimes in later teenage years (5-13 years). Affected individuals have normal vision at birth. The disease then progresses through distinct stages and has characteristics of atrophy of the retinal pigment epithelium (RPE) affecting photoreceptors with impaired central visual function. In most cases, the disease is caused by mutations in BEST1 (11q12), encoding for bestrophin-1, a chloride channel expressed in RPE. A defect in this protein leads to accumulation of lipofuscin secondary to abnormal ion exchange. Inherited in an autosomal dominant manner with complete penetrance. | MONDO: Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. | MeSH: Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel."
+BMGC_DS13174,BMG_DS044070,"MONDO: Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis. | MeSH: Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder."
+BMGC_DS13175,BMG_DS044071,"SNOMEDCT_US: Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait."
+BMGC_DS13176,BMG_DS044072,"ORPHANET: Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. | MONDO: A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies."
+BMGC_DS13177,BMG_DS044074,"MONDO: Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology. | MeSH: Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology."
+BMGC_DS13178,BMG_DS044075,"MONDO: A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition."
+BMGC_DS13179,BMG_DS044076,"MONDO: Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly."
+BMGC_DS13180,BMG_DS044077,"NCI: A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified based on the steroisomeric composition of the elevated alpha-hydroxyglutaric acid metabolites. Additionally, the disease may be categorized by the genetic mutation that is causative. Genes associated with 2-hydroxyglutaric aciduria are L2HGDH, D2HGDH, IDH2, and/or SLC25A1. Generally, there is nervous system involvement, but the clinical manifestations are variable and are dependent on the specific type of defect present. | MONDO: 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine."
+BMGC_DS13181,BMG_DS044079,"MONDO: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms."
+BMGC_DS13182,BMG_DS044080,
+BMGC_DS13183,BMG_DS044081,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene.
+BMGC_DS13184,BMG_DS044083,MeSH: Infections with bacteria of the family ENTEROBACTERIACEAE.
+BMGC_DS13185,BMG_DS044086,
+BMGC_DS13186,BMG_DS044088,HPO: Increased susceptibility to infection by the protozan parasite of the genus Leishmania. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS13187,BMG_DS044089,"SNOMEDCT_US: A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported. | MONDO: Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision."
+BMGC_DS13188,BMG_DS044092,
+BMGC_DS13189,BMG_DS044093,
+BMGC_DS13190,BMG_DS044094,"NCI: An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. | MONDO: An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis."
+BMGC_DS13191,BMG_DS044096,"SNOMEDCT_US: Disorder with characteristics of short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. The syndrome has been described a large eight-generation consanguineous Pakistani family. Caused by mutations in the PAPSS2 gene (10q22-q24). Inherited in an autosomal recessive manner. | MONDO: A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."
+BMGC_DS13192,BMG_DS044098,
+BMGC_DS13193,BMG_DS044099,
+BMGC_DS13194,BMG_DS044100,MONDO: A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.
+BMGC_DS13195,BMG_DS044101,"NCI: An autosomal recessive condition caused by mutation(s) in the FERMT3 gene, encoding fermitin family homolog 3. It is characterized by a defect in activation of all beta integrins. It manifests clinically as severe infections with marked leukocytosis, accompanied by life-threatening bleeding episodes. | MONDO: Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder."
+BMGC_DS13196,BMG_DS044102,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN1B gene.
+BMGC_DS13197,BMG_DS044103,MONDO: A disease involving the conducting system of heart.
+BMGC_DS13198,BMG_DS044104,"SNOMEDCT_US: A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive. | MONDO: A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings."
+BMGC_DS13199,BMG_DS044105,
+BMGC_DS13200,BMG_DS044106,MONDO: An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3
+BMGC_DS13201,BMG_DS044107,MONDO: Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.
+BMGC_DS13202,BMG_DS044108,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3.
+BMGC_DS13203,BMG_DS044110,"ORPHANET: Combined immunodeficiency (CID) due to &lt;i&gt;STIM1&lt;/i&gt; deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. | MONDO: Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia."
+BMGC_DS13204,BMG_DS044111,"ORPHANET: Combined immunodeficiency (CID) due to &lt;i&gt;ORAI1&lt;/i&gt; deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis. | MONDO: A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis."
+BMGC_DS13205,BMG_DS044112,"MONDO: An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively."
+BMGC_DS13206,BMG_DS044113,"SNOMEDCT_US: Syndrome with characteristics of seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance. It has been described in five patients from four families. The disease is caused by homozygous or compound heterozygous mutations in the KCNJ10 gene, encoding a potassium channel expressed in the brain, spinal cord, inner ear and kidneys. Transmission is autosomal recessive. | MONDO: SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)."
+BMGC_DS13207,BMG_DS044115,MONDO: Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).
+BMGC_DS13208,BMG_DS044119,"MONDO: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated."
+BMGC_DS13209,BMG_DS044121,"MONDO: Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations."
+BMGC_DS13210,BMG_DS044123,MONDO: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.
+BMGC_DS13211,BMG_DS044124,
+BMGC_DS13212,BMG_DS044125,"MeSH: Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism."
+BMGC_DS13213,BMG_DS044126,"NCI: Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein."
+BMGC_DS13214,BMG_DS044127,
+BMGC_DS13215,BMG_DS044128,"SNOMEDCT_US: A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfil all the diagnostic criteria for typical Rett syndrome. Several subvariants have been defined; the early-onset seizure type (Hanefeld), congenital variant (Rolando), the 'forme fruste' type, the late childhood regression form and the preserved speech variant (PSD or Zappella variant). Diagnosis relies on clinical evaluation using the diagnostic criteria for atypical Rett originally defined by Hagberg in 1994: an atypical case must meet at least three of the six main criteria and at least five of the eleven supportive criteria. | MONDO: A neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT)."
+BMGC_DS13216,BMG_DS044129,"SNOMEDCT_US: A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. | MONDO: Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects."
+BMGC_DS13217,BMG_DS044131,"MONDO: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes."
+BMGC_DS13218,BMG_DS044132,
+BMGC_DS13219,BMG_DS044134,"MONDO: A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)."
+BMGC_DS13220,BMG_DS044135,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.
+BMGC_DS13221,BMG_DS044136,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene.
+BMGC_DS13222,BMG_DS044137,"MONDO: A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures."
+BMGC_DS13223,BMG_DS044138,"SNOMEDCT_US: A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive. | MONDO: X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients."
+BMGC_DS13224,BMG_DS044139,"SNOMEDCT_US: A very rare form of superficial corneal dystrophy with characteristics of feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3). | MONDO: Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision."
+BMGC_DS13225,BMG_DS044140,MeSH: Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome.
+BMGC_DS13226,BMG_DS044141,
+BMGC_DS13227,BMG_DS044142,"MONDO: OBSOLETE. Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss."
+BMGC_DS13228,BMG_DS044143,
+BMGC_DS13229,BMG_DS044144,
+BMGC_DS13230,BMG_DS044145,
+BMGC_DS13231,BMG_DS044146,
+BMGC_DS13232,BMG_DS044148,
+BMGC_DS13233,BMG_DS044149,
+BMGC_DS13234,BMG_DS044150,MONDO: Autosomal recessive form of oculodentodigital dysplasia.
+BMGC_DS13235,BMG_DS044151,
+BMGC_DS13236,BMG_DS044152,
+BMGC_DS13237,BMG_DS044154,
+BMGC_DS13238,BMG_DS044155,
+BMGC_DS13239,BMG_DS044156,
+BMGC_DS13240,BMG_DS044157,
+BMGC_DS13241,BMG_DS044159,
+BMGC_DS13242,BMG_DS044160,
+BMGC_DS13243,BMG_DS044161,"HPO: Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS13244,BMG_DS044163,"HPO: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS13245,BMG_DS044164,"NCI: A genetic condition usually inherited in an autosomal recessive pattern. It is cause by mutation(s) in the SAMHD1 gene, encoding deoxynucleoside triphosphate triphosphohydrolase SAMHD1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon. | MONDO: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene."
+BMGC_DS13246,BMG_DS044165,MONDO: Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.
+BMGC_DS13247,BMG_DS044167,
+BMGC_DS13248,BMG_DS044168,
+BMGC_DS13249,BMG_DS044169,
+BMGC_DS13250,BMG_DS044172,"SNOMEDCT_US: A severe condition with onset in infancy of encephalomyopathy and in many cases renal tubulopathy. Manifestations include hypotonia, failure to thrive, microcephaly, and difficulty controlling head movement, delayed motor skills, serious breathing difficulties and can result in life-threatening respiratory failure. Most affected infants have lactic acidosis, which may also be life-threatening. Also associated are gastrointestinal dysmotility, seizures and sensorineural hearing loss. The disease is caused by mutations in the RRM2B gene which provides instructions for making one piece of the protein ribonucleotide reductase (RNR). RRM2B gene mutations reduce the activity or amount of RNR, which likely impairs production of mitochondrial DNA nucleotides. Inherited in an autosomal recessive pattern. | MONDO: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene."
+BMGC_DS13251,BMG_DS044173,
+BMGC_DS13252,BMG_DS044174,"ORPHANET: A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of global developmental delay, hypotonia, failure to thrive, progressive neurologic decline, sensorineural deafness, and movement disorder. Seizures, external ophthalmoplegia, polyneuropathy, cardiomyopathy, and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic acidosis and mild methylmalonic aciduria. | MONDO: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA."
+BMGC_DS13253,BMG_DS044175,"MONDO: An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene."
+BMGC_DS13254,BMG_DS044176,SNOMEDCT_US: A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents. | MONDO: 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.
+BMGC_DS13255,BMG_DS044178,"SNOMEDCT_US: A rare complex type of hereditary spastic paraplegia with characteristics of progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. This disease is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. | MONDO: A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2."
+BMGC_DS13256,BMG_DS044179,MONDO: Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.
+BMGC_DS13257,BMG_DS044180,
+BMGC_DS13258,BMG_DS044182,MONDO: Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.
+BMGC_DS13259,BMG_DS044184,
+BMGC_DS13260,BMG_DS044185,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene.
+BMGC_DS13261,BMG_DS044186,
+BMGC_DS13262,BMG_DS044187,
+BMGC_DS13263,BMG_DS044188,"SNOMEDCT_US: A rare genetic primary bone dysplasia with characteristics of disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay, markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15."
+BMGC_DS13264,BMG_DS044189,"NCI: An autosomal recessive condition caused by mutation(s) in the PAI1 gene, encoding plasminogen activator inhibitor 1. It is characterized by increased bleeding following trauma, injury, or surgery and in women, menorrhagia. | MONDO: Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency."
+BMGC_DS13265,BMG_DS044190,"SNOMEDCT_US: An extremely rare combined immunodeficiency disorder characterised by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral oedema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). | MONDO: Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia)."
+BMGC_DS13266,BMG_DS044191,MONDO: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.
+BMGC_DS13267,BMG_DS044192,"NCI: Rhabdoid tumor predisposition syndrome caused by mutation(s) in the SMARCA4 gene, encoding transcription activator BRG1. | MONDO: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene."
+BMGC_DS13268,BMG_DS044193,MONDO: Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.
+BMGC_DS13269,BMG_DS044194,"SNOMEDCT_US: A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone."
+BMGC_DS13270,BMG_DS044195,
+BMGC_DS13271,BMG_DS044196,MONDO: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.
+BMGC_DS13272,BMG_DS044197,MONDO: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.
+BMGC_DS13273,BMG_DS044198,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS26 gene, encoding 40S ribosomal protein S26. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene."
+BMGC_DS13274,BMG_DS044199,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPS10 gene, encoding 40S ribosomal protein S10. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene."
+BMGC_DS13275,BMG_DS044200,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene.
+BMGC_DS13276,BMG_DS044201,
+BMGC_DS13277,BMG_DS044203,"SNOMEDCT_US: A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow."
+BMGC_DS13278,BMG_DS044204,MONDO: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.
+BMGC_DS13279,BMG_DS044205,MONDO: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene.
+BMGC_DS13280,BMG_DS044206,
+BMGC_DS13281,BMG_DS044207,MONDO: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.
+BMGC_DS13282,BMG_DS044208,"MONDO: An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder."
+BMGC_DS13283,BMG_DS044210,
+BMGC_DS13284,BMG_DS044211,"SNOMEDCT_US: A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. | MONDO: Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy."
+BMGC_DS13285,BMG_DS044212,"SNOMEDCT_US: An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs. | MONDO: Autosomal dominant form of omodysplasia."
+BMGC_DS13286,BMG_DS044213,
+BMGC_DS13287,BMG_DS044214,
+BMGC_DS13288,BMG_DS044215,
+BMGC_DS13289,BMG_DS044216,"SNOMEDCT_US: A very rare multiple congenital anomaly syndrome. The syndrome has characteristics of bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. | MONDO: BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome."
+BMGC_DS13290,BMG_DS044217,
+BMGC_DS13291,BMG_DS044218,"ORPHANET: A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary."
+BMGC_DS13292,BMG_DS044220,MONDO: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.
+BMGC_DS13293,BMG_DS044222,MONDO: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.
+BMGC_DS13294,BMG_DS044223,MONDO: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.
+BMGC_DS13295,BMG_DS044224,MONDO: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.
+BMGC_DS13296,BMG_DS044225,MONDO: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3.
+BMGC_DS13297,BMG_DS044226,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.
+BMGC_DS13298,BMG_DS044227,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.
+BMGC_DS13299,BMG_DS044228,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the MYH6 gene, encoding myosin-6. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene."
+BMGC_DS13300,BMG_DS044229,MONDO: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene.
+BMGC_DS13301,BMG_DS044230,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.
+BMGC_DS13302,BMG_DS044231,MONDO: Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.
+BMGC_DS13303,BMG_DS044233,MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.
+BMGC_DS13304,BMG_DS044234,"HPO: Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. []"
+BMGC_DS13305,BMG_DS044235,MONDO: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.
+BMGC_DS13306,BMG_DS044236,"HPO: Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. []"
+BMGC_DS13307,BMG_DS044237,
+BMGC_DS13308,BMG_DS044238,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.
+BMGC_DS13309,BMG_DS044239,
+BMGC_DS13310,BMG_DS044240,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the NRAS gene, encoding GTPase NRas. | MONDO: Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene."
+BMGC_DS13311,BMG_DS044241,MONDO: Any leprosy in which the cause of the disease is a mutation in the TLR1 gene.
+BMGC_DS13312,BMG_DS044242,"NCI: A rare autosomal recessive condition caused by mutation(s) in the EPCAM gene, encoding epithelial cell adhesion molecule. It is characterized by intractable diarrhea in infancy, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. | MONDO: Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure."
+BMGC_DS13313,BMG_DS044244,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.
+BMGC_DS13314,BMG_DS044246,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.
+BMGC_DS13315,BMG_DS044248,"SNOMEDCT_US: A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. | MONDO: A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein."
+BMGC_DS13316,BMG_DS044249,"NCI: An autosomal recessive muscular dystrophy caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. Limb-girdle muscular dystrophy type 1B and Emery-Dreifuss muscular dystrophy-2 are allelic disorders with overlapping phenotypes. | MONDO: Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported."
+BMGC_DS13317,BMG_DS044250,"SNOMEDCT_US: A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. | MONDO: Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency."
+BMGC_DS13318,BMG_DS044251,
+BMGC_DS13319,BMG_DS044252,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.
+BMGC_DS13320,BMG_DS044253,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.
+BMGC_DS13321,BMG_DS044254,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.
+BMGC_DS13322,BMG_DS044255,"SNOMEDCT_US: A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. | MONDO: A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction."
+BMGC_DS13323,BMG_DS044256,"SNOMEDCT_US: A rare genetic dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. | MONDO: A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13"
+BMGC_DS13324,BMG_DS044257,"MONDO: 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)."
+BMGC_DS13325,BMG_DS044258,
+BMGC_DS13326,BMG_DS044259,
+BMGC_DS13327,BMG_DS044260,
+BMGC_DS13328,BMG_DS044261,MONDO: Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.
+BMGC_DS13329,BMG_DS044262,
+BMGC_DS13330,BMG_DS044263,
+BMGC_DS13331,BMG_DS044264,"MONDO: An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene."
+BMGC_DS13332,BMG_DS044266,"NCI: An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the RBM20 gene, encoding RNA-binding protein 20. | MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene."
+BMGC_DS13333,BMG_DS044268,
+BMGC_DS13334,BMG_DS044269,"NCI: An autosomal recessive condition caused by mutation(s) in the IL10RA gene, encoding interleukin-10 receptor subunit alpha. It is characterized by early-onset chronic relapsing intestinal inflammation. | MONDO: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene."
+BMGC_DS13335,BMG_DS044271,
+BMGC_DS13336,BMG_DS044272,"SNOMEDCT_US: An extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. The prevalence is unknown. The disease presents soon after birth with irritability and feeding difficulties, followed by progressive parkinsonism, dystonia, axial hypotonia, limb hypertonicity and pyramidal tract signs. Clinically it can resemble cerebral palsy. Caused by mutations in the SLC6A3 gene (5p15.33), which encodes a human dopamine transporter mediating the active reuptake of extracelluar dopamine. Mutations in this gene lead to a reduction in the level of mature dopamine transporter and therefore an impairment in dopaminergic neurotransmission. Inherited in an autosomal recessive manner. | MONDO: Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal."
+BMGC_DS13337,BMG_DS044274,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.
+BMGC_DS13338,BMG_DS044275,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
+BMGC_DS13339,BMG_DS044276,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene.
+BMGC_DS13340,BMG_DS044277,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.
+BMGC_DS13341,BMG_DS044278,
+BMGC_DS13342,BMG_DS044279,
+BMGC_DS13343,BMG_DS044280,MONDO: Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.
+BMGC_DS13344,BMG_DS044281,
+BMGC_DS13345,BMG_DS044284,
+BMGC_DS13346,BMG_DS044285,
+BMGC_DS13347,BMG_DS044286,"NCI: Severe congenital neutropenia inherited in an autosomal dominant pattern and caused by mutation(s) in the GFI1 gene, encoding zinc finger protein Gfi-1. | MONDO: Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene."
+BMGC_DS13348,BMG_DS044288,MONDO: Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
+BMGC_DS13349,BMG_DS044289,"SNOMEDCT_US: A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Evidence suggests this syndrome is caused by homozygous mutation in the desmocollin-3 gene on chromosome 18q12. | MONDO: Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid."
+BMGC_DS13350,BMG_DS044290,NCI: Familial hemophagocytic lymphohistiocytosis caused by biallelic mutations in the STXBP2 gene. | MONDO: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.
+BMGC_DS13351,BMG_DS044291,MONDO: Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.
+BMGC_DS13352,BMG_DS044292,
+BMGC_DS13353,BMG_DS044293,
+BMGC_DS13354,BMG_DS044294,
+BMGC_DS13355,BMG_DS044295,NCI: Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. | MONDO: Autosomal dominant polycystic kidney disease caused by a mutation in PKD2.
+BMGC_DS13356,BMG_DS044296,MONDO: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene.
+BMGC_DS13357,BMG_DS044297,MONDO: Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene.
+BMGC_DS13358,BMG_DS044298,"NCI: An autosomal recessive condition caused by mutation(s) in the PDE6C gene, encoding cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha. It is characterized by low visual acuity and severe color vision defects. This condition is closely related to cone dystrophy 4, which is also caused by mutation(s) in the PDE6C gene."
+BMGC_DS13359,BMG_DS044299,"MONDO: Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)."
+BMGC_DS13360,BMG_DS044301,"SNOMEDCT_US: A syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). It has been described in six unrelated patients. Capillary malformation of the lower lip is observed in all patients. The overgrowth was noted at birth in three patients but was generalized in only one patient; it was partial in the other patients and involved one or more body segments. Inheritance of this association is not known. | MONDO: CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)."
+BMGC_DS13361,BMG_DS044303,MONDO: Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.
+BMGC_DS13362,BMG_DS044304,
+BMGC_DS13363,BMG_DS044305,
+BMGC_DS13364,BMG_DS044306,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionising radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. | MONDO: Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly."
+BMGC_DS13365,BMG_DS044307,MONDO: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.
+BMGC_DS13366,BMG_DS044308,
+BMGC_DS13367,BMG_DS044309,"SNOMEDCT_US: A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11. | MONDO: RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported."
+BMGC_DS13368,BMG_DS044310,MONDO: Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.
+BMGC_DS13369,BMG_DS044311,MONDO: Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.
+BMGC_DS13370,BMG_DS044312,
+BMGC_DS13371,BMG_DS044313,
+BMGC_DS13372,BMG_DS044314,
+BMGC_DS13373,BMG_DS044315,
+BMGC_DS13374,BMG_DS044316,"MONDO: Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected."
+BMGC_DS13375,BMG_DS044317,
+BMGC_DS13376,BMG_DS044318,
+BMGC_DS13377,BMG_DS044319,
+BMGC_DS13378,BMG_DS044320,"MONDO: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages."
+BMGC_DS13379,BMG_DS044321,"MONDO: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death."
+BMGC_DS13380,BMG_DS044322,"MONDO: An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity."
+BMGC_DS13381,BMG_DS044323,"NCI: An autosomal dominant form of cerebral amyloid angiopathy caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The deposition of amyloid in cerebral blood vessels wall may lead to degenerative vascular changes that may result in cerebral hemorrhage. Mutation(s) in the APP gene may also cause autosomal dominant Alzheimer disease 1. | MONDO: A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3."
+BMGC_DS13382,BMG_DS044324,
+BMGC_DS13383,BMG_DS044325,
+BMGC_DS13384,BMG_DS044326,
+BMGC_DS13385,BMG_DS044327,
+BMGC_DS13386,BMG_DS044332,"MONDO: An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene."
+BMGC_DS13387,BMG_DS044335,
+BMGC_DS13388,BMG_DS044336,"MONDO: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene."
+BMGC_DS13389,BMG_DS044338,"SNOMEDCT_US: A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to recurrent life-threatening bacterial infections in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (for example atrial septal defects, patent ductus arteriosus, valvular defects), urogenital anomalies (including cryptorchidism), growth and developmental delay, facial dysmorphism (for example frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated."
+BMGC_DS13390,BMG_DS044343,MONDO: Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.
+BMGC_DS13391,BMG_DS044344,MONDO: Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.
+BMGC_DS13392,BMG_DS044345,MONDO: A liver PhK deficiency caused by variants in the PHKG2 gene
+BMGC_DS13393,BMG_DS044348,MONDO: A schizophrenia that has material basis in a mutation on chromosome 15q13.
+BMGC_DS13394,BMG_DS044349,
+BMGC_DS13395,BMG_DS044350,MONDO: Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene.
+BMGC_DS13396,BMG_DS044354,MONDO: Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.
+BMGC_DS13397,BMG_DS044355,
+BMGC_DS13398,BMG_DS044357,
+BMGC_DS13399,BMG_DS044361,
+BMGC_DS13400,BMG_DS044362,
+BMGC_DS13401,BMG_DS044363,"NCI: An autosomal dominant condition caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha. It is characterized by isolated febrile seizures, typically with onset between 3 months to 5 years, with spontaneous remission by 6 years of age. Mutation(s) in the SCN1A gene are also responsible for generalized epilepsy with febrile seizures plus, type 2; and Dravet syndrome."
+BMGC_DS13402,BMG_DS044364,
+BMGC_DS13403,BMG_DS044365,
+BMGC_DS13404,BMG_DS044366,MONDO: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.
+BMGC_DS13405,BMG_DS044367,
+BMGC_DS13406,BMG_DS044368,
+BMGC_DS13407,BMG_DS044369,MONDO: An inherited susceptibility or predisposition to developing viral infections.
+BMGC_DS13408,BMG_DS044370,MONDO: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.
+BMGC_DS13409,BMG_DS044371,MONDO: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.
+BMGC_DS13410,BMG_DS044372,
+BMGC_DS13411,BMG_DS044373,MONDO: An optic atrophy that is caused by a mutation in the TMEM126A gene.
+BMGC_DS13412,BMG_DS044375,MONDO: Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene.
+BMGC_DS13413,BMG_DS044376,"MONDO: Differences of sex development in individuals with 46,XY karyotype. | MeSH: Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical."
+BMGC_DS13414,BMG_DS044377,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.
+BMGC_DS13415,BMG_DS044378,MONDO: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.
+BMGC_DS13416,BMG_DS044379,MONDO: Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.
+BMGC_DS13417,BMG_DS044380,"NCI: An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the SNTA1 gene, encoding alpha-1-syntrophin. | MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene."
+BMGC_DS13418,BMG_DS044381,MONDO: Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.
+BMGC_DS13419,BMG_DS044382,"SNOMEDCT_US: A rare neurodegenerative disease usually presenting before the age of 30 with characteristics of dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Prevalence is unknown. Only 14 cases have been reported to date. Caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1. Inherited in an autosomal recessive manner. | MONDO: A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline."
+BMGC_DS13420,BMG_DS044383,"SNOMEDCT_US: This syndrome has characteristics of non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. | MONDO: Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive."
+BMGC_DS13421,BMG_DS044385,"MONDO: A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease."
+BMGC_DS13422,BMG_DS044388,"SNOMEDCT_US: A rare syndrome with characteristics of onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. | MONDO: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities."
+BMGC_DS13423,BMG_DS044389,
+BMGC_DS13424,BMG_DS044391,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.
+BMGC_DS13425,BMG_DS044392,"SNOMEDCT_US: A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. | MONDO: Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported."
+BMGC_DS13426,BMG_DS044393,
+BMGC_DS13427,BMG_DS044394,"SNOMEDCT_US: An extremely rare form of congenital disorder of glycosylation with clinical characteristics in the single reported case of muscle weakness, waddling gait and dilated cardiomyopathy. Caused by homozygous mutation in the DPM3 gene on chromosome 1q22. | MONDO: DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy."
+BMGC_DS13428,BMG_DS044395,"NCI: An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the AP4M1 gene, encoding AP-4 complex subunit mu-1. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene."
+BMGC_DS13429,BMG_DS044396,"SNOMEDCT_US: A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycaemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31."
+BMGC_DS13430,BMG_DS044397,MONDO: Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
+BMGC_DS13431,BMG_DS044399,
+BMGC_DS13432,BMG_DS044400,
+BMGC_DS13433,BMG_DS044401,
+BMGC_DS13434,BMG_DS044402,
+BMGC_DS13435,BMG_DS044403,
+BMGC_DS13436,BMG_DS044404,MONDO: Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.
+BMGC_DS13437,BMG_DS044405,"SNOMEDCT_US: CLOVE syndrome has characteristics of congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformations and epidermal nevi. To date, less than 15 cases have been reported in the literature. Patients also present with disproportionate fat distribution. CLOVE syndrome may be associated with varying degrees of scoliosis and enlarged bony structures without progressive bony overgrowth. The presence of scoliosis/skeletal manifestations has led to the suggestion that the acronym CLOVE should be expanded to CLOVES. | MONDO: A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly."
+BMGC_DS13438,BMG_DS044406,
+BMGC_DS13439,BMG_DS044407,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported."
+BMGC_DS13440,BMG_DS044408,"SNOMEDCT_US: An extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases and characteristics of facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. | MONDO: Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects."
+BMGC_DS13441,BMG_DS044410,MONDO: Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.
+BMGC_DS13442,BMG_DS044411,MONDO: Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene.
+BMGC_DS13443,BMG_DS044412,
+BMGC_DS13444,BMG_DS044413,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.
+BMGC_DS13445,BMG_DS044414,
+BMGC_DS13446,BMG_DS044415,"SNOMEDCT_US: A very rare tricarboxylic acid cycle disorder resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. | MONDO: A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures."
+BMGC_DS13447,BMG_DS044416,"MONDO: Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner."
+BMGC_DS13448,BMG_DS044417,MONDO: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13
+BMGC_DS13449,BMG_DS044418,
+BMGC_DS13450,BMG_DS044419,NCI: An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. | MONDO: An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair.
+BMGC_DS13451,BMG_DS044420,NCI: Sex reversal in an individual associated with a 9p24.3 deletion. | MONDO: Sex reversal in an individual associated with a 9p24.3 deletion.
+BMGC_DS13452,BMG_DS044421,
+BMGC_DS13453,BMG_DS044423,"NCI: An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood, and either a previous history of myelodysplastic syndrome, multilineage dysplasia or myelodysplastic syndrome-related cytogenetic abnormalities. There is no history of prior cytotoxic therapy for an unrelated disorder, and there is absence of the molecular abnormalities that are present in acute myeloid leukemia with recurrent genetic abnormalities."
+BMGC_DS13454,BMG_DS044424,"NCI: Acute myeloid leukemia or myelodysplastic syndrome occurring in children with Down syndrome. The acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation. | MONDO: An acute megakaryocytic leukemia occurring in children with Down syndrome and that has material basis in mutation in the GATA1 gene."
+BMGC_DS13455,BMG_DS044428,NCI: A rare mixed phenotype acute leukemia in which the blasts carry a translocation between the KMT2A gene at 11q23.3 and another gene partner. The prognosis is usually unfavorable.
+BMGC_DS13456,BMG_DS044429,
+BMGC_DS13457,BMG_DS044430,"SNOMEDCT_US: A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. | MONDO: Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported."
+BMGC_DS13458,BMG_DS044431,NCI: An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. | MONDO: An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy.
+BMGC_DS13459,BMG_DS044439,"SNOMEDCT_US: A rare complex type of hereditary spastic paraplegia with onset, in infancy or childhood of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. Caused by mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. | MONDO: A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase."
+BMGC_DS13460,BMG_DS044440,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.
+BMGC_DS13461,BMG_DS044441,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene.
+BMGC_DS13462,BMG_DS044476,
+BMGC_DS13463,BMG_DS044477,
+BMGC_DS13464,BMG_DS044573,
+BMGC_DS13465,BMG_DS044592,NCI: Evidence of other aplastic anemias and other bone marrow failure syndromes not specified elsewhere.
+BMGC_DS13466,BMG_DS044606,
+BMGC_DS13467,BMG_DS044607,
+BMGC_DS13468,BMG_DS044610,
+BMGC_DS13469,BMG_DS044616,
+BMGC_DS13470,BMG_DS044617,
+BMGC_DS13471,BMG_DS044618,
+BMGC_DS13472,BMG_DS044627,
+BMGC_DS13473,BMG_DS044770,
+BMGC_DS13474,BMG_DS044771,
+BMGC_DS13475,BMG_DS044780,
+BMGC_DS13476,BMG_DS044786,
+BMGC_DS13477,BMG_DS044787,
+BMGC_DS13478,BMG_DS044823,
+BMGC_DS13479,BMG_DS044853,
+BMGC_DS13480,BMG_DS044890,
+BMGC_DS13481,BMG_DS044895,
+BMGC_DS13482,BMG_DS044936,
+BMGC_DS13483,BMG_DS045055,
+BMGC_DS13484,BMG_DS045056,
+BMGC_DS13485,BMG_DS045057,
+BMGC_DS13486,BMG_DS045058,
+BMGC_DS13487,BMG_DS045074,
+BMGC_DS13488,BMG_DS047090,
+BMGC_DS13489,BMG_DS047560,
+BMGC_DS13490,BMG_DS047563,
+BMGC_DS13491,BMG_DS047566,
+BMGC_DS13492,BMG_DS047570,
+BMGC_DS13493,BMG_DS047571,
+BMGC_DS13494,BMG_DS047776,
+BMGC_DS13495,BMG_DS047813,"HPO: Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. [PMID:28613773] | MONDO: Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. | MeSH: A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA."
+BMGC_DS13496,BMG_DS047847,
+BMGC_DS13497,BMG_DS047848,
+BMGC_DS13498,BMG_DS047959,
+BMGC_DS13499,BMG_DS047960,
+BMGC_DS13500,BMG_DS047961,
+BMGC_DS13501,BMG_DS048230,
+BMGC_DS13502,BMG_DS048235,
+BMGC_DS13503,BMG_DS048236,
+BMGC_DS13504,BMG_DS048618,
+BMGC_DS13505,BMG_DS049585,
+BMGC_DS13506,BMG_DS050995,
+BMGC_DS13507,BMG_DS051828,
+BMGC_DS13508,BMG_DS051829,
+BMGC_DS13509,BMG_DS051830,
+BMGC_DS13510,BMG_DS051896,
+BMGC_DS13511,BMG_DS052027,"MONDO: Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated | MeSH: Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)"
+BMGC_DS13512,BMG_DS052107,
+BMGC_DS13513,BMG_DS052120,
+BMGC_DS13514,BMG_DS052121,
+BMGC_DS13515,BMG_DS052123,
+BMGC_DS13516,BMG_DS052124,
+BMGC_DS13517,BMG_DS052131,
+BMGC_DS13518,BMG_DS052138,
+BMGC_DS13519,BMG_DS052232,
+BMGC_DS13520,BMG_DS052236,"MeSH: An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation)."
+BMGC_DS13521,BMG_DS052256,NCI: An acute myeloid leukemia associated with t(9;11)(p21.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation.
+BMGC_DS13522,BMG_DS052268,"NCI: An autosomal recessive condition caused by mutation(s) in the G6PC gene, encoding glucose-6-phosphatase. It is characterized by accumulation of glycogen in the kidneys and liver resulting in hypoglycemia, hyperlipidemia, and hyperuricemia. Adults may have a high incidence of hepatic adenomas. | MONDO: Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency."
+BMGC_DS13523,BMG_DS052277,
+BMGC_DS13524,BMG_DS052293,"NCI: A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur. | MONDO: A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur."
+BMGC_DS13525,BMG_DS052318,"MeSH: A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN."
+BMGC_DS13526,BMG_DS052322,"MeSH: A form of pneumoconiosis caused by inhalation of asbestos fibers which elicit potent inflammatory responses in the parenchyma of the lung. The disease is characterized by interstitial fibrosis of the lung, varying from scattered sites to extensive scarring of the alveolar interstitium."
+BMGC_DS13527,BMG_DS052323,"NCI: A congenital disorder characterized by abnormalities in the development of the sexual characteristics. | MONDO: A congenital disorder characterized by abnormalities in the development of the sexual characteristics. | MeSH: In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included."
+BMGC_DS13528,BMG_DS052327,MONDO: An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome.
+BMGC_DS13529,BMG_DS052330,
+BMGC_DS13530,BMG_DS052335,MONDO: Autosomal dominant form of antiphospholipid syndrome.
+BMGC_DS13531,BMG_DS052365,"MONDO: A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists."
+BMGC_DS13532,BMG_DS052366,
+BMGC_DS13533,BMG_DS052367,
+BMGC_DS13534,BMG_DS052378,MONDO: An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.
+BMGC_DS13535,BMG_DS052382,"MONDO: Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present."
+BMGC_DS13536,BMG_DS052383,"SNOMEDCT_US: An extremely rare genetic disorder characterised by corneal anaesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The aetiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity. | MONDO: Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability."
+BMGC_DS13537,BMG_DS052394,
+BMGC_DS13538,BMG_DS052404,
+BMGC_DS13539,BMG_DS052406,MONDO: Involuntary twitching of the eyelid.
+BMGC_DS13540,BMG_DS052408,
+BMGC_DS13541,BMG_DS052417,"SNOMEDCT_US: Disease with characteristics of by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck and large low set ears. | MONDO: Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears."
+BMGC_DS13542,BMG_DS052427,
+BMGC_DS13543,BMG_DS052448,"ORPHANET: A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported. No new cases have been confirmed since 1970. | MONDO: Odontotrichomelic syndrome is characterized by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive."
+BMGC_DS13544,BMG_DS052449,
+BMGC_DS13545,BMG_DS052455,"NCI: A well-differentiated neuroendocrine neoplasm of low, intermediate, or high grade arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. | MONDO: A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas."
+BMGC_DS13546,BMG_DS052458,"ORPHANET: A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. | MONDO: Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal."
+BMGC_DS13547,BMG_DS052462,
+BMGC_DS13548,BMG_DS052463,
+BMGC_DS13549,BMG_DS052464,
+BMGC_DS13550,BMG_DS052465,
+BMGC_DS13551,BMG_DS052466,"SNOMEDCT_US: A rare genetic myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait) short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses) and mild to moderate intellectual deficiency. Facial dysmorphism and joint limitation are not associated. There have been no further descriptions in the literature since 1984."
+BMGC_DS13552,BMG_DS052468,MONDO: Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene.
+BMGC_DS13553,BMG_DS052469,
+BMGC_DS13554,BMG_DS052470,
+BMGC_DS13555,BMG_DS052472,
+BMGC_DS13556,BMG_DS052473,MONDO: A maple syrup urine disease caused by mutations in BCKDHB.
+BMGC_DS13557,BMG_DS052476,
+BMGC_DS13558,BMG_DS052477,"NCI: A genetically heterogenous condition, usually inherited in an autosomal dominant fashion, characterized by hypopigmented and hyperpigmented macules involving the entire body surface. | MONDO: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution."
+BMGC_DS13559,BMG_DS052479,"NCI: A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG6 gene, encoding dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase. | MONDO: A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)."
+BMGC_DS13560,BMG_DS052480,"NCI: A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG12 gene, dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase. | MONDO: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33)."
+BMGC_DS13561,BMG_DS052481,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. | MONDO: A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation."
+BMGC_DS13562,BMG_DS052482,"NCI: A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPAGT1 gene, encoding UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase. | MONDO: DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)."
+BMGC_DS13563,BMG_DS052483,"SNOMEDCT_US: A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). | MONDO: A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)."
+BMGC_DS13564,BMG_DS052484,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). | MONDO: A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)."
+BMGC_DS13565,BMG_DS052485,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. Caused by mutations in the gene STT3B (3p24.1). | MONDO: STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)."
+BMGC_DS13566,BMG_DS052486,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). | MONDO: MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)."
+BMGC_DS13567,BMG_DS052487,"SNOMEDCT_US: A congenital disorder of glycosylation with characteristics of macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. | MONDO: B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase."
+BMGC_DS13568,BMG_DS052488,"SNOMEDCT_US: Syndrome with characteristics of dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. It has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. | MONDO: COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex."
+BMGC_DS13569,BMG_DS052489,"SNOMEDCT_US: An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. | MONDO: COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism."
+BMGC_DS13570,BMG_DS052491,"ORPHANET: Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations. | MONDO: Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."
+BMGC_DS13571,BMG_DS052496,NCI: Split-hand/foot malformation mapped to chromosome 7q21.3 | MONDO: Split-hand/foot malformation mapped to chromosome 7q21.3
+BMGC_DS13572,BMG_DS052505,"SNOMEDCT_US: A rare genetic capillary malformation characterised by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in colour and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21. | MONDO: A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color."
+BMGC_DS13573,BMG_DS052511,"ORPHANET: A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent."
+BMGC_DS13574,BMG_DS052513,
+BMGC_DS13575,BMG_DS052514,"NCI: A carcinoma that arises from the pancreas in a patient with a family history of pancreatic cancer. In the minority of cases, patients have recognized genetic syndromes (e.g., FAMMM syndrome, BRCA2 syndrome, Peutz-Jeghers syndrome) however, in the majority of cases the genetic cause has not been identified. | MONDO: Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives."
+BMGC_DS13576,BMG_DS052517,"ORPHANET: A rare inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. | MONDO: Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine."
+BMGC_DS13577,BMG_DS052519,"SNOMEDCT_US: A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15."
+BMGC_DS13578,BMG_DS052521,"ORPHANET: Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early &lt;i&gt;in utero&lt;/i&gt; lethality and affected fetuses are considered as nonviable. | MONDO: A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable."
+BMGC_DS13579,BMG_DS052525,
+BMGC_DS13580,BMG_DS052526,"SNOMEDCT_US: A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father's half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity. | MONDO: Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies."
+BMGC_DS13581,BMG_DS052531,"NCI: A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2. | MeSH: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue.  Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2."
+BMGC_DS13582,BMG_DS052532,"ORPHANET: A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. | MONDO: A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty."
+BMGC_DS13583,BMG_DS052533,"SNOMEDCT_US: Syndrome with characteristics of skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested."
+BMGC_DS13584,BMG_DS052537,"SNOMEDCT_US: The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive. | MONDO: This syndrome is characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal."
+BMGC_DS13585,BMG_DS052540,SNOMEDCT_US: Disease with characteristics of early childhood onset of severe progressive liver disease. Caused by homozygous or compound heterozygous mutation in the TJP2 gene on chromosome 9q21. | MONDO: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.
+BMGC_DS13586,BMG_DS052544,"SNOMEDCT_US: A basal subtype of epidermolysis bullosa simplex characterized by generalized blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive. | MONDO: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy."
+BMGC_DS13587,BMG_DS052545,MONDO: Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.
+BMGC_DS13588,BMG_DS052553,
+BMGC_DS13589,BMG_DS052562,"SNOMEDCT_US: A rare subtype of Leigh syndrome with clinical characteristics of encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay. Onset in infancy or early childhood resulting from maternally-inherited mutations in mitochondrial DNA. | MONDO: Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA."
+BMGC_DS13590,BMG_DS052563,"ORPHANET: A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, metaphyseal changes at birth, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus (occurring more often during periods of more rapid growth), white sclera and absence of dentinogenesis imperfecta. | MONDO: Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI)."
+BMGC_DS13591,BMG_DS052570,"SNOMEDCT_US: A severe fetal malformation syndrome with characteristics of craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Mostly present in families of Finnish descent. The syndrome also has characteristics of postaxial and preaxial polydactyly. Caused by mutations in HYLS1 (11q24.2) and KIF7 (15q26.1). Inheritance is autosomal recessive. Stillbirth or neonatal death is the rule, although rare cases with several months' survival have been reported. | MONDO: Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities."
+BMGC_DS13592,BMG_DS052571,
+BMGC_DS13593,BMG_DS052573,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.
+BMGC_DS13594,BMG_DS052577,
+BMGC_DS13595,BMG_DS052578,"MONDO: Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance."
+BMGC_DS13596,BMG_DS052582,MeSH: Infections with bacteria of the genus NOCARDIA.
+BMGC_DS13597,BMG_DS052583,"HPO: Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. [https://orcid.org/0000-0002-0736-9199, PMID:20837325]"
+BMGC_DS13598,BMG_DS052584,
+BMGC_DS13599,BMG_DS052587,
+BMGC_DS13600,BMG_DS052588,
+BMGC_DS13601,BMG_DS052589,MONDO: Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.
+BMGC_DS13602,BMG_DS052596,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap."
+BMGC_DS13603,BMG_DS052597,"ORPHANET: A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection. | MONDO: Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1."
+BMGC_DS13604,BMG_DS052598,
+BMGC_DS13605,BMG_DS052599,
+BMGC_DS13606,BMG_DS052600,
+BMGC_DS13607,BMG_DS052601,
+BMGC_DS13608,BMG_DS052605,
+BMGC_DS13609,BMG_DS052607,"SNOMEDCT_US: This syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. | MONDO: Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys."
+BMGC_DS13610,BMG_DS052611,"SNOMEDCT_US: A rare developmental defect during embryogenesis with characteristics of variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. | MONDO: Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983."
+BMGC_DS13611,BMG_DS052618,"NCI: Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders. | MONDO: Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders."
+BMGC_DS13612,BMG_DS052626,"NCI: A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting between one and four separate joints during the first six months of disease. | MONDO: Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases."
+BMGC_DS13613,BMG_DS052630,
+BMGC_DS13614,BMG_DS052633,
+BMGC_DS13615,BMG_DS052634,
+BMGC_DS13616,BMG_DS052635,
+BMGC_DS13617,BMG_DS052641,"NCI: An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. | MONDO: An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction."
+BMGC_DS13618,BMG_DS052645,
+BMGC_DS13619,BMG_DS052651,"NCI: A rare variant of carcinoma of the urachal remnant of bladder. | MONDO: Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer."
+BMGC_DS13620,BMG_DS052653,MONDO: Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene
+BMGC_DS13621,BMG_DS052654,
+BMGC_DS13622,BMG_DS052655,
+BMGC_DS13623,BMG_DS052657,
+BMGC_DS13624,BMG_DS052659,"NCI: An autosomal recessive sub-type of Usher syndrome caused by homozygous or compound heterozygous mutation(s) in the ADGRV1 gene, encoding adhesion G protein-coupled receptor V1. It may also result from biallelic digenic mutation(s) in ADGRV1 and PDZD7, which encodes PDZ domain-containing protein 7. | MONDO: A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner."
+BMGC_DS13625,BMG_DS052660,
+BMGC_DS13626,BMG_DS052664,"SNOMEDCT_US: An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent. | MONDO: Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent."
+BMGC_DS13627,BMG_DS052669,
+BMGC_DS13628,BMG_DS052674,
+BMGC_DS13629,BMG_DS052675,
+BMGC_DS13630,BMG_DS052682,HPO: A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS13631,BMG_DS052685,"ORPHANET: A rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing gastro-enteropathy), asthenia, moderate diarrhea, lymphedema, serous effusion and failure to thrive in children. | MONDO: Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children."
+BMGC_DS13632,BMG_DS052688,MONDO: Autosomal recessive form of craniometaphyseal dysplasia.
+BMGC_DS13633,BMG_DS052689,MeSH: Inherited or acquired diseases characterized by insufficient and/or dysplastic blood cells.
+BMGC_DS13634,BMG_DS052690,"NCI: A rare genetic disorder characterized by hypotonia, failure to thrive, mental retardation, developmental disorders, congenital anomalies, and autism spectrum disorders. The majority of patients harbor a microduplication of chromosome 17p11. | MONDO: 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated."
+BMGC_DS13635,BMG_DS052691,
+BMGC_DS13636,BMG_DS052695,
+BMGC_DS13637,BMG_DS052696,
+BMGC_DS13638,BMG_DS052699,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.
+BMGC_DS13639,BMG_DS052701,"SNOMEDCT_US: A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance. | MONDO: A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages."
+BMGC_DS13640,BMG_DS052704,MONDO: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
+BMGC_DS13641,BMG_DS052711,"SNOMEDCT_US: A complex hereditary spastic paraplegia with characteristics of progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene."
+BMGC_DS13642,BMG_DS052714,"MONDO: An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia."
+BMGC_DS13643,BMG_DS052722,"SNOMEDCT_US: A distal myopathy with characteristics of weakness in the distal upper extremities usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremities primarily in toe and ankle extensors. This disease is mainly restricted to a geographical area around the Baltic Sea and is a late adult-onset disorder. Caused by a missense change (c.1362G>A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA-1 isoform p40, a key component of stress granules. Inherited as an autosomal dominant trait."
+BMGC_DS13644,BMG_DS052723,"SNOMEDCT_US: A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials. | MONDO: Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterized by spastic paraparesis (beginning at about 10 years of age) and hearing deficits."
+BMGC_DS13645,BMG_DS052728,"SNOMEDCT_US: This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait. | MONDO: A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis)."
+BMGC_DS13646,BMG_DS052731,"SNOMEDCT_US: A very rare, severe, genetic, combined immunodeficiency disorder with characteristics of lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction."
+BMGC_DS13647,BMG_DS052736,
+BMGC_DS13648,BMG_DS052744,
+BMGC_DS13649,BMG_DS052754,MONDO: Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.
+BMGC_DS13650,BMG_DS052757,
+BMGC_DS13651,BMG_DS052760,"NCI: An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the ATL1 gene, encoding atlastin-1. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene."
+BMGC_DS13652,BMG_DS052783,
+BMGC_DS13653,BMG_DS052793,
+BMGC_DS13654,BMG_DS052798,
+BMGC_DS13655,BMG_DS052799,
+BMGC_DS13656,BMG_DS052813,NCI: A group of conditions characterized by lack of expression of major histocompatibility complex (MHC) class II proteins.
+BMGC_DS13657,BMG_DS052815,"SNOMEDCT_US: A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder. | MONDO: Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD."
+BMGC_DS13658,BMG_DS052819,
+BMGC_DS13659,BMG_DS052825,
+BMGC_DS13660,BMG_DS052831,"ORPHANET: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. | MONDO: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria."
+BMGC_DS13661,BMG_DS052845,MONDO: An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.
+BMGC_DS13662,BMG_DS052846,"SNOMEDCT_US: A malignant tumour of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterised by familial antecedents. | MONDO: An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
+BMGC_DS13663,BMG_DS052848,
+BMGC_DS13664,BMG_DS052850,"SNOMEDCT_US: This syndrome has characteristics of mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. | MONDO: Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance."
+BMGC_DS13665,BMG_DS052853,"SNOMEDCT_US: An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait. | MONDO: Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus."
+BMGC_DS13666,BMG_DS052865,
+BMGC_DS13667,BMG_DS052867,
+BMGC_DS13668,BMG_DS052869,"SNOMEDCT_US: A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. | MONDO: A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)."
+BMGC_DS13669,BMG_DS052875,"NCI: A very rare genetic disorder characterized by cleft lip and palate, sparse scalp hair, and partial syndactyly of the fingers and toes. | MONDO: An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability."
+BMGC_DS13670,BMG_DS052882,"MONDO: An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities."
+BMGC_DS13671,BMG_DS052884,MONDO: A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
+BMGC_DS13672,BMG_DS052886,
+BMGC_DS13673,BMG_DS052942,"SNOMEDCT_US: Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly and significant cardiac defects. Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. | MONDO: Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment."
+BMGC_DS13674,BMG_DS052943,"MONDO: A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region."
+BMGC_DS13675,BMG_DS052949,"ORPHANET: Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement."
+BMGC_DS13676,BMG_DS052980,"SNOMEDCT_US: A partial deletion of the short arm of chromosome 8 with manifestations of low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. The prevalence is unknown but 8p23.1 deletions are rare. The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most 8p23.1 deletions occur de novo, however, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child. | MONDO: 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects."
+BMGC_DS13677,BMG_DS052984,"SNOMEDCT_US: A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13."
+BMGC_DS13678,BMG_DS052987,
+BMGC_DS13679,BMG_DS052988,
+BMGC_DS13680,BMG_DS052996,"SNOMEDCT_US: A very rare epidermal naevus disorder characterised by the association of speckled lentiginous nevi with epidermal sebaceous nevi and extracutaneous anomalies. | MONDO: Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies."
+BMGC_DS13681,BMG_DS053000,"SNOMEDCT_US: Syndrome with the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. The clinical presentation of the reported cases is rather heterogeneous with variable manifestations including intrauterine growth retardation, hepatosplenomegaly, cerebellar hypoplasia or atrophy and congenital cataract. The cause remains unknown. Several familial cases, compatible with an autosomal recessive pattern of inheritance have been described."
+BMGC_DS13682,BMG_DS053007,"ORPHANET: A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia. | MONDO: Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia."
+BMGC_DS13683,BMG_DS053008,
+BMGC_DS13684,BMG_DS053015,MONDO: Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder.
+BMGC_DS13685,BMG_DS053018,"ORPHANET: A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the &lt;i&gt;PMP22&lt;/i&gt; (17p12) gene. The disease severity depends on the particular &lt;i&gt;PMP22&lt;/i&gt; mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients."
+BMGC_DS13686,BMG_DS053019,
+BMGC_DS13687,BMG_DS053020,"NCI: A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities. | MONDO: Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders."
+BMGC_DS13688,BMG_DS053031,
+BMGC_DS13689,BMG_DS053035,"SNOMEDCT_US: Rare disorder with features of multiple craniofacial anomalies; brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes. The syndrome is inherited in an autosomal recessive manner. | MONDO: Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)."
+BMGC_DS13690,BMG_DS053050,"ORPHANET: A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia. | MONDO: A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern."
+BMGC_DS13691,BMG_DS053053,"HPO: A increased concentration of sulfocysteine in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:28980090]"
+BMGC_DS13692,BMG_DS053062,ORPHANET: A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. | MONDO: Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.
+BMGC_DS13693,BMG_DS053066,"MONDO: Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males."
+BMGC_DS13694,BMG_DS053071,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.
+BMGC_DS13695,BMG_DS053082,"ORPHANET: A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. | MONDO: Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue."
+BMGC_DS13696,BMG_DS053083,"ORPHANET: A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure. | MONDO: An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure."
+BMGC_DS13697,BMG_DS053084,
+BMGC_DS13698,BMG_DS053085,"NCI: A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the FUS gene, encoding RNA-binding protein FUS. | MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene."
+BMGC_DS13699,BMG_DS053086,
+BMGC_DS13700,BMG_DS053087,"MONDO: A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction. | MeSH: An hereditary hemolytic uremic syndrome associated with variations in the gene that encodes COMPLEMENT FACTOR H, or the related proteins CFHR1 and CFHR3. Disease often progresses to CHRONIC KIDNEY FAILURE without the prodromal symptoms of ENTEROCOLITIS and DIARRHEA that characterize typical hemolytic uremic syndrome."
+BMGC_DS13701,BMG_DS053098,"SNOMEDCT_US: A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. | MONDO: 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism."
+BMGC_DS13702,BMG_DS053099,"NCI: A syndrome of high phenotypic variability caused by contiguous gene deletions in 2q37. The inheritance is autosomal dominant. The condition may be characterized by brachydactly type E; mental retardation; short stature; and other skeletal, cardiovascular, and neurologic manifestations. | MONDO: A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism."
+BMGC_DS13703,BMG_DS053103,SNOMEDCT_US: Progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. Autosomal recessive spastic paraplegia type 11 is a form of complicated spastic paraplegia with neurological features such as mental impairment and thin corpus callosum in addition to spasticity.
+BMGC_DS13704,BMG_DS053104,"MONDO: A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma. | MeSH: A carcinoma that originates in the EPITHELIUM of the NASOPHARYNX and includes four subtypes: keratinizing squamous cell, non-keratinizing, basaloid squamous cell, and PAPILLARY ADENOCARCINOMA. It is most prevalent in Southeast Asian populations and is associated with EPSTEIN-BARR VIRUS INFECTIONS. Somatic mutations associated with this cancer have been identified in NPCR, BAP1, UBAP1, ERBB2, ERBB3, MLL2, PIK3CA, KRAS, NRAS, and ARID1A genes."
+BMGC_DS13705,BMG_DS053108,"NCI: A group of autosomal dominant inherited non-dystrophic myotonias caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. They are characterized by muscle stiffness, which worsens by ingestion of potassium-rich food. This group includes myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. | MONDO: Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia."
+BMGC_DS13706,BMG_DS053112,"SNOMEDCT_US: Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. | MONDO: Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive."
+BMGC_DS13707,BMG_DS053113,MONDO: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.
+BMGC_DS13708,BMG_DS053114,MONDO: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene.
+BMGC_DS13709,BMG_DS053115,"SNOMEDCT_US: An autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. | MONDO: Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay."
+BMGC_DS13710,BMG_DS053116,"SNOMEDCT_US: Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems, periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. | MONDO: Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria."
+BMGC_DS13711,BMG_DS053117,
+BMGC_DS13712,BMG_DS053121,
+BMGC_DS13713,BMG_DS053122,"ORPHANET: Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. | MONDO: Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system."
+BMGC_DS13714,BMG_DS053127,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPL5 gene, encoding 60S ribosomal protein L5. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene."
+BMGC_DS13715,BMG_DS053138,MONDO: An instance of schizencephaly that is caused by an inherited modification of the individual's genome.
+BMGC_DS13716,BMG_DS053140,"ORPHANET: A rare lysosomal storage disease characterized by a spectrum of clinical manifestations including neurological and developmental disorders with a severity ranging from the milder form, also called Salla disease (SD), to the most severe phenotype, also called infantile free sialic acid storage disease (ISSD). | MONDO: Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)."
+BMGC_DS13717,BMG_DS053143,"NCI: An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS1 gene, encoding Hermansky-Pudlak syndrome 1 protein. This sub-type is associated with pulmonary fibrosis. | MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene."
+BMGC_DS13718,BMG_DS053149,"SNOMEDCT_US: An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy and hepatosplenomegaly associated with severe combined immunodeficiency. The signs and symptoms can evolve over time and may not appear simultaneously. Some patients present with some but not all of these symptoms and may be described as having atypical Omenn syndrome. The syndrome is not caused by a defined genetic defect. The majority of cases reported to date have hypomorphic mutations in RAG1 and RAG2 genes (11p13). Transmission is autosomal recessive."
+BMGC_DS13719,BMG_DS053152,
+BMGC_DS13720,BMG_DS053155,MONDO: A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
+BMGC_DS13721,BMG_DS053163,MONDO: Autosomal recessive form of limb-girdle muscular dystrophy.
+BMGC_DS13722,BMG_DS053175,
+BMGC_DS13723,BMG_DS053178,
+BMGC_DS13724,BMG_DS053182,"MONDO: A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low."
+BMGC_DS13725,BMG_DS053184,
+BMGC_DS13726,BMG_DS053187,"NCI: A rare brain developmental disorder caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. The pons and cerebellum are the brain structures that are more severely affected. It is characterized by microcephaly, lack of voluntary motor skills, dysphagia, inability to communicate, abnormal patterns of movement, and spasticity. | MONDO: Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty."
+BMGC_DS13727,BMG_DS053188,"ORPHANET: Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha). | MONDO: A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)."
+BMGC_DS13728,BMG_DS053189,"NCI: Parathyroid hormone (PTH) resistance caused by vitamin D deficiency and characterized by clinically increased PTH concentrations with relative hyperphosphatemia. The diagnosis can be confirmed by finding of a normal cyclic adenosine monophosphate (cAMP) response to PTH infusion, but deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. | MONDO: Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response."
+BMGC_DS13729,BMG_DS053199,"MONDO: Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. | MeSH: Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency."
+BMGC_DS13730,BMG_DS053200,"MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. | MeSH: Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency."
+BMGC_DS13731,BMG_DS053201,"MeSH: Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome."
+BMGC_DS13732,BMG_DS053202,"MONDO: Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. | MeSH: Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical."
+BMGC_DS13733,BMG_DS053203,"MeSH: Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development."
+BMGC_DS13734,BMG_DS053204,"MONDO: 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. | MeSH: Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal)."
+BMGC_DS13735,BMG_DS053207,"MeSH: Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy."
+BMGC_DS13736,BMG_DS053208,"MeSH: Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy."
+BMGC_DS13737,BMG_DS053210,"MONDO: Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition. | MeSH: Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed."
+BMGC_DS13738,BMG_DS053211,MeSH: Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
+BMGC_DS13739,BMG_DS053215,"NCI: A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development. | MeSH: Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections."
+BMGC_DS13740,BMG_DS053216,"MeSH: Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections."
+BMGC_DS13741,BMG_DS053217,"ORPHANET: A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype. | MONDO: 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. | MeSH: Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination."
+BMGC_DS13742,BMG_DS053219,"MeSH: A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)"
+BMGC_DS13743,BMG_DS053220,"NCI: A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. | MeSH: Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share."
+BMGC_DS13744,BMG_DS053221,"NCI: A rare sex chromosome abnormality in which a male child has an extra X and Y chromosome. | MONDO: The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males. | MeSH: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.)."
+BMGC_DS13745,BMG_DS053223,NCI: Waldenstrom macroglobulinemia in a patient who has at least one first degree relative with either Waldenstrom macroglobulinemia or another B-cell lymphoproliferative disorder.
+BMGC_DS13746,BMG_DS053224,
+BMGC_DS13747,BMG_DS053226,"MeSH: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine."
+BMGC_DS13748,BMG_DS053227,"MONDO: A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). | MeSH: Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders."
+BMGC_DS13749,BMG_DS053228,"NCI: A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage. | MONDO: Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene."
+BMGC_DS13750,BMG_DS053229,"MeSH: Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2. | MeSH: An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)."
+BMGC_DS13751,BMG_DS053230,"SNOMEDCT_US: A rare disease with characteristics of slowly progressive and relatively pure ataxia described in 6 patients from one Australian family to date. The disease presents with oculomotor dysfunction, moderate dysarthria, and ataxia that progresses slowly and eventually leads to mobility impairment. Some patients have also reported mild hyperreflexia in the lower limbs. Rare manifestations include gaze-evoked nystagmus and dystonia. The causal gene has not yet been identified but it has been linked to chromosome 4q34.3-q35.1. | MONDO: Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia."
+BMGC_DS13752,BMG_DS053232,
+BMGC_DS13753,BMG_DS053233,"SNOMEDCT_US: Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, with characteristics of congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. Four types of FFDD are described. Types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. Types I and IV are infrequently associated with extra-cutaneous anomalies. | MONDO: Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies."
+BMGC_DS13754,BMG_DS053234,MeSH: An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.
+BMGC_DS13755,BMG_DS053238,"NCI: Decreased activity of the enzyme 21-hydroxylase, associated with mutation(s) in the CYP21A2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia (CAH) and is the cause of approximately 95% of CAH. | MONDO: The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia."
+BMGC_DS13756,BMG_DS053239,"SNOMEDCT_US: Syndrome that is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. Mutations in DNA polymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome. X-linked recessive transmission has been proposed. | MONDO: N syndrome is characterized by intellectual deficit, deafness, ocular anomalies, T-cell leukemia, cryptorchidism, hypospadias and spasticity."
+BMGC_DS13757,BMG_DS053240,"SNOMEDCT_US: A rare complex type of hereditary spastic paraplegia with characteristics of adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The phenotype has been mapped to a locus on chromosome 6q23-q24.1. | MONDO: Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1."
+BMGC_DS13758,BMG_DS053241,MONDO: A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.
+BMGC_DS13759,BMG_DS053242,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.
+BMGC_DS13760,BMG_DS053243,
+BMGC_DS13761,BMG_DS053245,"SNOMEDCT_US: A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24. | MONDO: Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy."
+BMGC_DS13762,BMG_DS053246,"SNOMEDCT_US: A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. | MONDO: Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients."
+BMGC_DS13763,BMG_DS053250,MONDO: X-linked form of Opitz G/BBB syndrome.
+BMGC_DS13764,BMG_DS053252,"MONDO: Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia."
+BMGC_DS13765,BMG_DS053259,
+BMGC_DS13766,BMG_DS053262,MONDO: A deficiency in biotin through either inherited or acquired causes.
+BMGC_DS13767,BMG_DS053267,"NCI: A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma. | MONDO: A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma."
+BMGC_DS13768,BMG_DS053273,
+BMGC_DS13769,BMG_DS053274,
+BMGC_DS13770,BMG_DS053275,MONDO: Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. | MeSH: Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.
+BMGC_DS13771,BMG_DS053276,"HPO: Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. [https://orcid.org/0000-0002-0736-9199] | MONDO: A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology."
+BMGC_DS13772,BMG_DS053293,NCI: Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. | MONDO: Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.
+BMGC_DS13773,BMG_DS053310,NCI: Proliferation of myeloid cells originating from a primitive stem cell. | MONDO: Proliferation of myeloid cells originating from a primitive stem cell.
+BMGC_DS13774,BMG_DS053311,"MONDO: An X-linked genetic condition caused by alterations in the gene G6PD that result in moderately to severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Most individuals with G6PD deficiency are asymptomatic throughout their life. Individuals with G6PD variants that cause G6PD deficiency are at risk for severe neonatal jaundice. These individuals are also at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans. | MeSH: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia."
+BMGC_DS13775,BMG_DS053315,"MONDO: An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. | MeSH: An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels."
+BMGC_DS13776,BMG_DS053327,MONDO: A ischemia that involves the limb.
+BMGC_DS13777,BMG_DS053347,
+BMGC_DS13778,BMG_DS053390,
+BMGC_DS13779,BMG_DS053397,
+BMGC_DS13780,BMG_DS053408,MONDO: A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
+BMGC_DS13781,BMG_DS053436,"ORPHANET: Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth. | MONDO: Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth."
+BMGC_DS13782,BMG_DS053439,"HPO: Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. [https://orcid.org/0000-0002-0736-9199] | MONDO: Pulmonary arterial hypertension (PAH) is a group of diseases characterized by mean pulmonary artery pressure >20 mmHg and elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, have overt features of venous/capillary involvement (pulmonary veno-occlusive disease, PVOD/pulmonary capillary hemangiomatosis, PCH), induced by drug or toxin (drug-or toxin-induced PAH), or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease)."
+BMGC_DS13783,BMG_DS053440,"MeSH: An acute infectious disease caused by COXIELLA BURNETII. It is characterized by a sudden onset of FEVER; HEADACHE; malaise; and weakness. In humans, it is commonly contracted by inhalation of infected dusts derived from infected domestic animals (ANIMALS, DOMESTIC)."
+BMGC_DS13784,BMG_DS053519,MONDO: A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.
+BMGC_DS13785,BMG_DS053524,"HPO: Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. [] | MONDO: Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment."
+BMGC_DS13786,BMG_DS053526,HPO: Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [https://orcid.org/0000-0002-0736-9199] | MONDO: Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees.
+BMGC_DS13787,BMG_DS053531,"NCI: A rare tumor that arises from the pineal region and affects adults. It is characterized by the presence of neuroepithelial cells and a papillary architecture. Electron microscopic studies suggest ependymal differentiation. The clinical course is variable. | MONDO: Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus."
+BMGC_DS13788,BMG_DS053532,"NCI: A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. | MONDO: A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. | MeSH: An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETARDATION, central nervous system abnormalities, cognitive and/or behavioral dysfunction, BIRTH DEFECTS. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity."
+BMGC_DS13789,BMG_DS053533,"NCI: An autosomal dominant-inherited neoplastic predisposition syndrome caused by mutation(s) in the SMARCB1 or SMARCA4 genes. It is characterized by the development of atypical teratoid/rhabdoid tumors in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma. | MONDO: A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma."
+BMGC_DS13790,BMG_DS053539,NCI: A glioma that grows diffusely in the pons. It usually affects children and has a poor prognosis. | MONDO: A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.
+BMGC_DS13791,BMG_DS053540,"NCI: A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. | MeSH: Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation."
+BMGC_DS13792,BMG_DS053541,"NCI: A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. | MONDO: A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
+BMGC_DS13793,BMG_DS053551,NCI: A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy. | MONDO: A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.
+BMGC_DS13794,BMG_DS053552,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene.
+BMGC_DS13795,BMG_DS053553,
+BMGC_DS13796,BMG_DS053554,
+BMGC_DS13797,BMG_DS053555,
+BMGC_DS13798,BMG_DS053556,
+BMGC_DS13799,BMG_DS053557,
+BMGC_DS13800,BMG_DS053558,
+BMGC_DS13801,BMG_DS053560,
+BMGC_DS13802,BMG_DS053561,MONDO: Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.
+BMGC_DS13803,BMG_DS053562,
+BMGC_DS13804,BMG_DS053563,
+BMGC_DS13805,BMG_DS053564,
+BMGC_DS13806,BMG_DS053567,"NCI: A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. | MONDO: A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects."
+BMGC_DS13807,BMG_DS053568,
+BMGC_DS13808,BMG_DS053569,
+BMGC_DS13809,BMG_DS053570,
+BMGC_DS13810,BMG_DS053571,
+BMGC_DS13811,BMG_DS053572,"NCI: Myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by severe episodes of laryngospasm in the neonatal period, which can be alleviated by channel blockers."
+BMGC_DS13812,BMG_DS053574,
+BMGC_DS13813,BMG_DS053575,"MONDO: Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities."
+BMGC_DS13814,BMG_DS053577,"ORPHANET: Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. | MONDO: Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities."
+BMGC_DS13815,BMG_DS053579,"NCI: An autosomal recessive subtype of mitochondrial depletion syndrome caused by mutation(s) in the TK2 gene, encoding thymidine kinase 2, mitochondrial. It is characterized by muscle weakness associated with mtDNA depletion in skeletal muscle. | MONDO: Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive."
+BMGC_DS13816,BMG_DS053580,
+BMGC_DS13817,BMG_DS053582,MONDO: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.
+BMGC_DS13818,BMG_DS053583,
+BMGC_DS13819,BMG_DS053585,"MONDO: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown."
+BMGC_DS13820,BMG_DS053586,"NCI: An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis."
+BMGC_DS13821,BMG_DS053587,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene.
+BMGC_DS13822,BMG_DS053588,"MONDO: A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity."
+BMGC_DS13823,BMG_DS053589,"MONDO: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies."
+BMGC_DS13824,BMG_DS053590,
+BMGC_DS13825,BMG_DS053591,
+BMGC_DS13826,BMG_DS053592,
+BMGC_DS13827,BMG_DS053593,MONDO: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.
+BMGC_DS13828,BMG_DS053594,
+BMGC_DS13829,BMG_DS053595,"MONDO: 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss."
+BMGC_DS13830,BMG_DS053596,"NCI: Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. | MONDO: Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae."
+BMGC_DS13831,BMG_DS053597,"NCI: Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. | MONDO: Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion."
+BMGC_DS13832,BMG_DS053598,
+BMGC_DS13833,BMG_DS053599,"MONDO: Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia."
+BMGC_DS13834,BMG_DS053600,
+BMGC_DS13835,BMG_DS053602,
+BMGC_DS13836,BMG_DS053604,NCI: An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. | MONDO: An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.
+BMGC_DS13837,BMG_DS053605,
+BMGC_DS13838,BMG_DS053606,
+BMGC_DS13839,BMG_DS053607,"NCI: An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. | MONDO: An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
+BMGC_DS13840,BMG_DS053608,NCI: An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan. | MONDO: An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.
+BMGC_DS13841,BMG_DS053609,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy with onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures and myopia. Caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
+BMGC_DS13842,BMG_DS053610,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy with characteristics of proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability."
+BMGC_DS13843,BMG_DS053611,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene.
+BMGC_DS13844,BMG_DS053614,
+BMGC_DS13845,BMG_DS053616,MONDO: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene.
+BMGC_DS13846,BMG_DS053617,MONDO: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.
+BMGC_DS13847,BMG_DS053618,
+BMGC_DS13848,BMG_DS053619,"MONDO: 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities."
+BMGC_DS13849,BMG_DS053620,MONDO: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the INS gene.
+BMGC_DS13850,BMG_DS053621,MONDO: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene.
+BMGC_DS13851,BMG_DS053622,"MONDO: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene."
+BMGC_DS13852,BMG_DS053623,MONDO: Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.
+BMGC_DS13853,BMG_DS053624,
+BMGC_DS13854,BMG_DS053625,
+BMGC_DS13855,BMG_DS053626,MONDO: Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.
+BMGC_DS13856,BMG_DS053627,"NCI: Fanconi anemia caused by autosomal recessive mutation(s) in the RAD51C gene, encoding DNA repair protein RAD51 homolog 3. | MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene."
+BMGC_DS13857,BMG_DS053628,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene.
+BMGC_DS13858,BMG_DS053629,
+BMGC_DS13859,BMG_DS053630,"SNOMEDCT_US: A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations | MONDO: A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11."
+BMGC_DS13860,BMG_DS053631,MONDO: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene.
+BMGC_DS13861,BMG_DS053634,"MONDO: A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."
+BMGC_DS13862,BMG_DS053635,MONDO: Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.
+BMGC_DS13863,BMG_DS053636,"MONDO: 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies."
+BMGC_DS13864,BMG_DS053637,
+BMGC_DS13865,BMG_DS053639,
+BMGC_DS13866,BMG_DS053640,MONDO: Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene.
+BMGC_DS13867,BMG_DS053641,
+BMGC_DS13868,BMG_DS053642,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
+BMGC_DS13869,BMG_DS053643,
+BMGC_DS13870,BMG_DS053644,
+BMGC_DS13871,BMG_DS053645,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene.
+BMGC_DS13872,BMG_DS053646,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.
+BMGC_DS13873,BMG_DS053647,
+BMGC_DS13874,BMG_DS053648,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.
+BMGC_DS13875,BMG_DS053649,"MONDO: Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated."
+BMGC_DS13876,BMG_DS053650,MONDO: Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
+BMGC_DS13877,BMG_DS053651,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.
+BMGC_DS13878,BMG_DS053652,"NCI: An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life."
+BMGC_DS13879,BMG_DS053653,
+BMGC_DS13880,BMG_DS053654,"MONDO: 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism."
+BMGC_DS13881,BMG_DS053655,"MONDO: 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems."
+BMGC_DS13882,BMG_DS053656,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene.
+BMGC_DS13883,BMG_DS053657,MONDO: Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.
+BMGC_DS13884,BMG_DS053658,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.
+BMGC_DS13885,BMG_DS053659,MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.
+BMGC_DS13886,BMG_DS053660,
+BMGC_DS13887,BMG_DS053661,
+BMGC_DS13888,BMG_DS053662,MONDO: Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene.
+BMGC_DS13889,BMG_DS053663,MONDO: Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.
+BMGC_DS13890,BMG_DS053664,MONDO: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene.
+BMGC_DS13891,BMG_DS053665,MONDO: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene.
+BMGC_DS13892,BMG_DS053666,MONDO: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.
+BMGC_DS13893,BMG_DS053667,MONDO: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene.
+BMGC_DS13894,BMG_DS053668,"MONDO: Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle."
+BMGC_DS13895,BMG_DS053669,"MONDO: The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech."
+BMGC_DS13896,BMG_DS053670,MONDO: Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene.
+BMGC_DS13897,BMG_DS053672,MONDO: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 4q22.1.
+BMGC_DS13898,BMG_DS053673,MONDO: An inherited susceptibility or predisposition to developing atopic dermatitis that is associated with variation in the region 3p24.
+BMGC_DS13899,BMG_DS053674,"NCI: Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype. | MONDO: Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype."
+BMGC_DS13900,BMG_DS053675,"SNOMEDCT_US: A subtype of autosomal dominant limb-girdle muscular dystrophy with characteristics of slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. | MONDO: Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle."
+BMGC_DS13901,BMG_DS053676,
+BMGC_DS13902,BMG_DS053677,
+BMGC_DS13903,BMG_DS053679,MONDO: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
+BMGC_DS13904,BMG_DS053680,MONDO: Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene.
+BMGC_DS13905,BMG_DS053681,"SNOMEDCT_US: A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. | MONDO: Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life."
+BMGC_DS13906,BMG_DS053682,MONDO: Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.
+BMGC_DS13907,BMG_DS053683,"NCI: An inherited condition caused by autosomal dominant mutation(s) in the CBL gene, encoding E3 ubiquitin-protein ligase CBL. The condition resembles Noonan syndrome 1 and is characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Affected individuals may have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. | MONDO: CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL."
+BMGC_DS13908,BMG_DS053684,
+BMGC_DS13909,BMG_DS053685,MONDO: Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene.
+BMGC_DS13910,BMG_DS053686,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.
+BMGC_DS13911,BMG_DS053687,
+BMGC_DS13912,BMG_DS053688,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.
+BMGC_DS13913,BMG_DS053689,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.
+BMGC_DS13914,BMG_DS053690,"HPO: Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. [https://orcid.org/0000-0003-0986-4123] | MONDO: Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms."
+BMGC_DS13915,BMG_DS053692,
+BMGC_DS13916,BMG_DS053693,
+BMGC_DS13917,BMG_DS053694,MONDO: 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
+BMGC_DS13918,BMG_DS053695,
+BMGC_DS13919,BMG_DS053696,
+BMGC_DS13920,BMG_DS053697,MONDO: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.
+BMGC_DS13921,BMG_DS053698,"ORPHANET: A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum."
+BMGC_DS13922,BMG_DS053699,"SNOMEDCT_US: An extremely rare form of carbohydrate deficient glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate mental retardation with slow and inarticulate speech, truncal ataxia and mild hypotonia. | MONDO: COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia."
+BMGC_DS13923,BMG_DS053700,MONDO: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.
+BMGC_DS13924,BMG_DS053701,NCI: Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations. | MONDO: Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.
+BMGC_DS13925,BMG_DS053702,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.
+BMGC_DS13926,BMG_DS053703,ORPHANET: 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. | MONDO: 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
+BMGC_DS13927,BMG_DS053705,MONDO: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.
+BMGC_DS13928,BMG_DS053707,"ORPHANET: Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. | MONDO: Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported."
+BMGC_DS13929,BMG_DS053709,"SNOMEDCT_US: Syndrome with common characteristics of macrocephaly, tall stature and intellectual disability that is usually moderate in severity. Many affected individuals have significantly delayed development, hypotonia and ataxia. Other manifestations include seizures, abnormalities of brain structure and mild facial dysmorphism for example prominent forehead. The syndrome is not typically inherited. | MONDO: 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation)."
+BMGC_DS13930,BMG_DS053710,
+BMGC_DS13931,BMG_DS053711,MONDO: A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
+BMGC_DS13932,BMG_DS053712,"MONDO: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology."
+BMGC_DS13933,BMG_DS053713,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.
+BMGC_DS13934,BMG_DS053714,MONDO: An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.
+BMGC_DS13935,BMG_DS053715,"SNOMEDCT_US: A form of hereditary spastic paraplegia with usual characteristics of a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and Parkinsonism as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging) has also been reported. | MONDO: Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported."
+BMGC_DS13936,BMG_DS053716,"NCI: Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. | MONDO: C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor."
+BMGC_DS13937,BMG_DS053717,MONDO: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.
+BMGC_DS13938,BMG_DS053718,"SNOMEDCT_US: An inherited disorder with characteristics of widespread calcifications of the basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. The syndrome has been described in eight children from two interrelated families. The disorder is associated with a genetic locus on chromosome 2 and transmission is autosomal recessive."
+BMGC_DS13939,BMG_DS053719,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.
+BMGC_DS13940,BMG_DS053720,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). | MONDO: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3)."
+BMGC_DS13941,BMG_DS053721,
+BMGC_DS13942,BMG_DS053722,"MONDO: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination."
+BMGC_DS13943,BMG_DS053723,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition."
+BMGC_DS13944,BMG_DS053724,"SNOMEDCT_US: A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11. | MONDO: Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene."
+BMGC_DS13945,BMG_DS053725,"SNOMEDCT_US: A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. | MONDO: Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth."
+BMGC_DS13946,BMG_DS053726,MONDO: Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.
+BMGC_DS13947,BMG_DS053727,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13."
+BMGC_DS13948,BMG_DS053728,
+BMGC_DS13949,BMG_DS053729,"NCI: Rubinstein-Taybi syndrome caused by a mutation in the EP300 gene on chromosome 22q13, which presents with a mild phenotype associated with less severe facial dysmorphism and better cognitive function. | MONDO: Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene."
+BMGC_DS13950,BMG_DS053730,MONDO: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.
+BMGC_DS13951,BMG_DS053731,"NCI: An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. | MONDO: An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death."
+BMGC_DS13952,BMG_DS053732,"SNOMEDCT_US: A syndromic limb malformation characterised by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalisation of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. | MONDO: Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females."
+BMGC_DS13953,BMG_DS053733,MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.
+BMGC_DS13954,BMG_DS053734,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.
+BMGC_DS13955,BMG_DS053735,MONDO: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.
+BMGC_DS13956,BMG_DS053736,
+BMGC_DS13957,BMG_DS053737,MONDO: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.
+BMGC_DS13958,BMG_DS053738,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the BRAF gene, encoding serine/threonine-protein kinase B-raf. | MONDO: Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene."
+BMGC_DS13959,BMG_DS053739,MONDO: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.
+BMGC_DS13960,BMG_DS053740,MONDO: A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.
+BMGC_DS13961,BMG_DS053741,"SNOMEDCT_US: A rare genetic disorder of thiamine metabolism and transport with characteristics of the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. Caused by homozygous mutation in the SLC25A19 gene on chromosome 17q25. | MONDO: Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities."
+BMGC_DS13962,BMG_DS053742,
+BMGC_DS13963,BMG_DS053743,MONDO: An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.
+BMGC_DS13964,BMG_DS053744,MONDO: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.
+BMGC_DS13965,BMG_DS053745,"NCI: An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the KCNQ2 gene, encoding potassium voltage-gated channel subfamily KQT member 2. | MONDO: KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability."
+BMGC_DS13966,BMG_DS053746,"NCI: An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the SCN2A gene, encoding sodium channel protein type 2 subunit alpha. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene."
+BMGC_DS13967,BMG_DS053747,"MONDO: An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion."
+BMGC_DS13968,BMG_DS053748,SNOMEDCT_US: A form of limb-girdle muscular dystrophy with characteristics of proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
+BMGC_DS13969,BMG_DS053749,"MONDO: A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy."
+BMGC_DS13970,BMG_DS053750,"SNOMEDCT_US: A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22. | MONDO: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene."
+BMGC_DS13971,BMG_DS053752,
+BMGC_DS13972,BMG_DS053753,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene.
+BMGC_DS13973,BMG_DS053754,MONDO: Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.
+BMGC_DS13974,BMG_DS053755,MONDO: Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.
+BMGC_DS13975,BMG_DS053756,MONDO: OBSOLETE. Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene.
+BMGC_DS13976,BMG_DS053757,"NCI: CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. | MONDO: A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels."
+BMGC_DS13977,BMG_DS053758,MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.
+BMGC_DS13978,BMG_DS053759,MONDO: Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.
+BMGC_DS13979,BMG_DS053760,"ORPHANET: A rare, multisystemic inherited metabolic diseases characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already &lt;i&gt;in utero&lt;/i&gt; or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients. | MONDO: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels."
+BMGC_DS13980,BMG_DS053761,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.
+BMGC_DS13981,BMG_DS053762,MONDO: Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.
+BMGC_DS13982,BMG_DS053763,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene.
+BMGC_DS13983,BMG_DS053764,"MONDO: A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance."
+BMGC_DS13984,BMG_DS053765,MONDO: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.
+BMGC_DS13985,BMG_DS053766,
+BMGC_DS13986,BMG_DS053768,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.
+BMGC_DS13987,BMG_DS053769,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene.
+BMGC_DS13988,BMG_DS053770,
+BMGC_DS13989,BMG_DS053771,MONDO: Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.
+BMGC_DS13990,BMG_DS053772,"MONDO: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease."
+BMGC_DS13991,BMG_DS053773,
+BMGC_DS13992,BMG_DS053774,MONDO: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
+BMGC_DS13993,BMG_DS053775,MONDO: Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.
+BMGC_DS13994,BMG_DS053776,MONDO: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.
+BMGC_DS13995,BMG_DS053777,MONDO: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.
+BMGC_DS13996,BMG_DS053778,"MONDO: Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic."
+BMGC_DS13997,BMG_DS053779,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.
+BMGC_DS13998,BMG_DS053780,"NCI: Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3."
+BMGC_DS13999,BMG_DS053781,
+BMGC_DS14000,BMG_DS053782,MONDO: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.
+BMGC_DS14001,BMG_DS053783,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.
+BMGC_DS14002,BMG_DS053784,MONDO: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.
+BMGC_DS14003,BMG_DS053785,MONDO: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.
+BMGC_DS14004,BMG_DS053786,MONDO: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.
+BMGC_DS14005,BMG_DS053787,"NCI: An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCDC39 gene, encoding coiled-coil domain-containing protein 39. | MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene."
+BMGC_DS14006,BMG_DS053788,"NCI: An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCDC40 gene, encoding coiled-coil domain-containing protein 40. | MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene."
+BMGC_DS14007,BMG_DS053789,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.
+BMGC_DS14008,BMG_DS053790,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.
+BMGC_DS14009,BMG_DS053791,"ORPHANET: A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement. | MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene."
+BMGC_DS14010,BMG_DS053793,MONDO: Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
+BMGC_DS14011,BMG_DS053794,MONDO: An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
+BMGC_DS14012,BMG_DS053795,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.
+BMGC_DS14013,BMG_DS053796,MONDO: Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.
+BMGC_DS14014,BMG_DS053797,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.
+BMGC_DS14015,BMG_DS053798,MONDO: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.
+BMGC_DS14016,BMG_DS053799,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.
+BMGC_DS14017,BMG_DS053800,
+BMGC_DS14018,BMG_DS053801,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.
+BMGC_DS14019,BMG_DS053802,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.
+BMGC_DS14020,BMG_DS053803,"SNOMEDCT_US: A rare genetic vascular disease with characteristics of congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease. There is evidence the disease is caused by heterozygous mutation in the ACTA2 gene on chromosome 10q23. | MONDO: Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals."
+BMGC_DS14021,BMG_DS053804,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.
+BMGC_DS14022,BMG_DS053805,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.
+BMGC_DS14023,BMG_DS053806,
+BMGC_DS14024,BMG_DS053807,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.
+BMGC_DS14025,BMG_DS053808,"SNOMEDCT_US: A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2."
+BMGC_DS14026,BMG_DS053809,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.
+BMGC_DS14027,BMG_DS053810,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.
+BMGC_DS14028,BMG_DS053811,
+BMGC_DS14029,BMG_DS053812,MONDO: Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene.
+BMGC_DS14030,BMG_DS053813,
+BMGC_DS14031,BMG_DS053814,
+BMGC_DS14032,BMG_DS053815,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene.
+BMGC_DS14033,BMG_DS053816,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene.
+BMGC_DS14034,BMG_DS053817,
+BMGC_DS14035,BMG_DS053818,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.
+BMGC_DS14036,BMG_DS053819,
+BMGC_DS14037,BMG_DS053820,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the JPH2 gene, encoding junctophilin-2. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene."
+BMGC_DS14038,BMG_DS053821,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.
+BMGC_DS14039,BMG_DS053822,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
+BMGC_DS14040,BMG_DS053823,"NCI: An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the BAG3 gene, encoding BAG family molecular chaperone regulator 3. | MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene."
+BMGC_DS14041,BMG_DS053824,
+BMGC_DS14042,BMG_DS053825,"MONDO: Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism."
+BMGC_DS14043,BMG_DS053826,"ORPHANET: A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases."
+BMGC_DS14044,BMG_DS053827,MONDO: Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.
+BMGC_DS14045,BMG_DS053828,"SNOMEDCT_US: Disease with characteristics of ataxia, cognitive impairment and azoospermia in males. Reported in one Chinese family to date. Disease onset occurs in adulthood with females more affected than males. Manifestations include cerebellar ataxia, cognitive impairment and in males, azoospermia. Cerebellar atrophy is visible with magnetic resonance imaging. The causal gene has not yet been identified but it is located to chromosome 7q32-q33. | MONDO: Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males."
+BMGC_DS14046,BMG_DS053829,
+BMGC_DS14047,BMG_DS053830,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.
+BMGC_DS14048,BMG_DS053831,
+BMGC_DS14049,BMG_DS053832,
+BMGC_DS14050,BMG_DS053833,
+BMGC_DS14051,BMG_DS053834,"MONDO: A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%)."
+BMGC_DS14052,BMG_DS053835,
+BMGC_DS14053,BMG_DS053836,
+BMGC_DS14054,BMG_DS053837,
+BMGC_DS14055,BMG_DS053838,MONDO: A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.
+BMGC_DS14056,BMG_DS053839,
+BMGC_DS14057,BMG_DS053840,MONDO: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.
+BMGC_DS14058,BMG_DS053841,MONDO: Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.
+BMGC_DS14059,BMG_DS053842,MONDO: Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.
+BMGC_DS14060,BMG_DS053843,MONDO: A schizophrenia that has material basis in a mutation on chromosome 7q36.3.
+BMGC_DS14061,BMG_DS053844,
+BMGC_DS14062,BMG_DS053845,
+BMGC_DS14063,BMG_DS053846,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.
+BMGC_DS14064,BMG_DS053847,
+BMGC_DS14065,BMG_DS053848,
+BMGC_DS14066,BMG_DS053849,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.
+BMGC_DS14067,BMG_DS053850,MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.
+BMGC_DS14068,BMG_DS053851,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.
+BMGC_DS14069,BMG_DS053852,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.
+BMGC_DS14070,BMG_DS053853,"MONDO: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene."
+BMGC_DS14071,BMG_DS053854,"NCI: Dyskeratosis congenita caused by autosomal recessive mutation(s) in the NHP2 gene, encoding H/ACA ribonucleoprotein complex subunit 2. | MONDO: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3."
+BMGC_DS14072,BMG_DS053855,"NCI: Dyskeratosis congenita caused by autosomal recessive mutation(s) in the WRAP53 gene, encoding telomerase Cajal body protein 1. | MONDO: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1."
+BMGC_DS14073,BMG_DS053856,"NCI: Dyskeratosis congenita caused by mutation(s) in the TERT gene, encoding telomerase reverse transcriptase. | MONDO: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33."
+BMGC_DS14074,BMG_DS053857,MONDO: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.
+BMGC_DS14075,BMG_DS053858,"NCI: Dyskeratosis congenita caused by autosomal dominant mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. Mutations in TINF2 may also lead to another phenotype known as Revesz syndrome (Dyskeratosis Congenita, Autosomal Dominant 5). | MONDO: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12."
+BMGC_DS14076,BMG_DS053859,"SNOMEDCT_US: A rare genetic progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13. | MONDO: A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life."
+BMGC_DS14077,BMG_DS053860,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.
+BMGC_DS14078,BMG_DS053861,MONDO: Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.
+BMGC_DS14079,BMG_DS053862,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.
+BMGC_DS14080,BMG_DS053863,"NCI: An autosomal recessive subtype of catecholaminergic polymorphic ventricular tachycardia caused by mutation(s) in the TECRL gene, encoding trans-2,3-enoyl-CoA reductase-like. | MONDO: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene."
+BMGC_DS14081,BMG_DS053864,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.
+BMGC_DS14082,BMG_DS053865,
+BMGC_DS14083,BMG_DS053866,"SNOMEDCT_US: A disorder that affects the ability to break down lipids leading to increased amounts of triglycerides and cholesterol in the blood. Caused by mutations in the lipase C hepatic type (LIPC) gene. This gene provides instructions for making hepatic lipase. LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result very low-density lipoproteins and intermediate-density lipoproteins are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglyceride remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency. | MONDO: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated."
+BMGC_DS14084,BMG_DS053867,
+BMGC_DS14085,BMG_DS053868,"NCI: A autosomal recessive condition caused by mutation(s) in the SUCLG1 gene, encoding succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial. It is characterized by infantile onset of hypotonia, lactic acidosis, developmental delay, cognitive impairment, and excretion of methylmalonic acid. | MONDO: Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated."
+BMGC_DS14086,BMG_DS053869,
+BMGC_DS14087,BMG_DS053870,"MONDO: Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive."
+BMGC_DS14088,BMG_DS053872,"NCI: An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. | MONDO: An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
+BMGC_DS14089,BMG_DS053873,
+BMGC_DS14090,BMG_DS053874,"MONDO: Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis."
+BMGC_DS14091,BMG_DS053875,
+BMGC_DS14092,BMG_DS053876,
+BMGC_DS14093,BMG_DS053877,
+BMGC_DS14094,BMG_DS053878,
+BMGC_DS14095,BMG_DS053879,MONDO: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene.
+BMGC_DS14096,BMG_DS053880,
+BMGC_DS14097,BMG_DS053882,
+BMGC_DS14098,BMG_DS053883,"MONDO: Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date."
+BMGC_DS14099,BMG_DS053884,"SNOMEDCT_US: A rare genetic X-linked syndromic intellectual disability disorder characterised by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioural problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28."
+BMGC_DS14100,BMG_DS053885,
+BMGC_DS14101,BMG_DS053886,
+BMGC_DS14102,BMG_DS053887,
+BMGC_DS14103,BMG_DS053889,"MONDO: Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism."
+BMGC_DS14104,BMG_DS053890,
+BMGC_DS14105,BMG_DS053892,
+BMGC_DS14106,BMG_DS053893,
+BMGC_DS14107,BMG_DS053895,"MONDO: Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterized by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus."
+BMGC_DS14108,BMG_DS053898,MONDO: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.
+BMGC_DS14109,BMG_DS053899,
+BMGC_DS14110,BMG_DS053900,
+BMGC_DS14111,BMG_DS053901,
+BMGC_DS14112,BMG_DS053902,
+BMGC_DS14113,BMG_DS053904,"MONDO: An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer."
+BMGC_DS14114,BMG_DS053906,SNOMEDCT_US: Syndrome with characteristics of moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. | MONDO: X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.
+BMGC_DS14115,BMG_DS053907,"SNOMEDCT_US: A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. | MONDO: A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis."
+BMGC_DS14116,BMG_DS053908,MONDO: A Parkinson disease that begins after around the age of 50.
+BMGC_DS14117,BMG_DS053909,
+BMGC_DS14118,BMG_DS053910,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.
+BMGC_DS14119,BMG_DS053911,MONDO: The formation of a blood clot (thrombus) in the lumen of a vein.
+BMGC_DS14120,BMG_DS053912,MONDO: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.
+BMGC_DS14121,BMG_DS053913,"NCI: Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. | MONDO: Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing."
+BMGC_DS14122,BMG_DS053914,NCI: Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. | MONDO: Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.
+BMGC_DS14123,BMG_DS053915,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.
+BMGC_DS14124,BMG_DS053919,"NCI: An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment."
+BMGC_DS14125,BMG_DS053931,
+BMGC_DS14126,BMG_DS053938,"NCI: A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia. | MONDO: Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2)."
+BMGC_DS14127,BMG_DS053939,
+BMGC_DS14128,BMG_DS053956,
+BMGC_DS14129,BMG_DS053976,HPO: An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS14130,BMG_DS053983,
+BMGC_DS14131,BMG_DS054033,
+BMGC_DS14132,BMG_DS054035,
+BMGC_DS14133,BMG_DS054147,"NCI: A condition in which the nerves register normal stimuli (lack of tissue injury) as pain, resulting in feelings of intense pain with even minor sensory input. | MeSH: Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain."
+BMGC_DS14134,BMG_DS054149,"MONDO: A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. | MeSH: Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome."
+BMGC_DS14135,BMG_DS054150,"HPO: Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. [HPO_CONTRIBUTOR:DDD_dbrown, PMID:3408620] | MONDO: A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12."
+BMGC_DS14136,BMG_DS054155,"MONDO: Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). | MeSH: A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip."
+BMGC_DS14137,BMG_DS054156,"MONDO: Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). | MeSH: A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip."
+BMGC_DS14138,BMG_DS054167,"MeSH: OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections."
+BMGC_DS14139,BMG_DS054168,"MeSH: OPPORTUNISTIC INFECTIONS with the soil fungus FUSARIUM. Typically the infection is limited to the nail plate (ONYCHOMYCOSIS). The infection can however become systemic especially in an IMMUNOCOMPROMISED HOST (e.g., NEUTROPENIA) and results in cutaneous and subcutaneous lesions, fever, KERATITIS, and pulmonary infections."
+BMGC_DS14140,BMG_DS054173,"MeSH: Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme."
+BMGC_DS14141,BMG_DS054174,"SNOMEDCT_US: A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). | MONDO: A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). | MeSH: Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY)."
+BMGC_DS14142,BMG_DS054175,"MeSH: Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs."
+BMGC_DS14143,BMG_DS054176,"NCI: Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. | MONDO: Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. | MeSH: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes  a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry."
+BMGC_DS14144,BMG_DS054180,"MeSH: A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities."
+BMGC_DS14145,BMG_DS054182,"MONDO: 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)."
+BMGC_DS14146,BMG_DS054183,"MeSH: Formation of a non-infectious THROMBUS, referred to as vegetation, on previously undamaged ENDOCARDIUM. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see THROMBOPHILIA)."
+BMGC_DS14147,BMG_DS054185,
+BMGC_DS14148,BMG_DS054186,
+BMGC_DS14149,BMG_DS054189,"MeSH: A spectrum of chronic inflammatory conditions affecting the axial joints (e.g., SPINE), characterized by pain, stiffness of joints (ANKYLOSIS), reduced mobility and inflammation. When joint inflammation and damage are visible on regular X-rays it is called ANKYLOSING SPONDYLITIS; otherwise it is referred to as NON-RADIOGRAPHIC AXIAL SPONDYLOARTHRITIS. HLA-B27 ANTIGEN is a biomarker and IL-23/IL-17 pathway a potential therapeutic target for axial and other related spondyloarthritis."
+BMGC_DS14150,BMG_DS054192,"NCI: A condition in which there is musculoskeletal chest pain characterized by brief, sharp discomfort associated with inspiration. (ACC-AHA) | MeSH: Pressure, burning, or numbness in the chest."
+BMGC_DS14151,BMG_DS054194,"NCI: Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure. | MONDO: Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD). | MeSH: Fatty liver finding without excessive ALCOHOL CONSUMPTION."
+BMGC_DS14152,BMG_DS054201,"MONDO: A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum."
+BMGC_DS14153,BMG_DS054205,MONDO: Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). | MeSH: An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.
+BMGC_DS14154,BMG_DS054214,"NCI: A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts. | MONDO: Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness."
+BMGC_DS14155,BMG_DS054515,
+BMGC_DS14156,BMG_DS054557,HPO: A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). [https://orcid.org/0000-0003-0986-4123] | MeSH: Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in  REFRACTIVE ERROR.
+BMGC_DS14157,BMG_DS054558,HPO: Astigmatism in which the refractive power of the vertical meridian is the greatest. [https://orcid.org/0000-0003-0986-4123] | MeSH: Unequal or irregular curvature of the CORNEA (Corneal astigmatism) and/or the EYE LENS (Lenticular astigmatism) resulting in  REFRACTIVE ERROR.
+BMGC_DS14158,BMG_DS054568,"HPO: The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0002-4142-7153, https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html, PMID:21331089]"
+BMGC_DS14159,BMG_DS054592,"MeSH: Two or more concurrent chronic physical, mental, or behavioral health problems in an individual."
+BMGC_DS14160,BMG_DS054609,"SNOMEDCT_US: A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. | MONDO: A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy."
+BMGC_DS14161,BMG_DS054616,"ORPHANET: Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. | MONDO: A rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. | MeSH: Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae, M. leprae."
+BMGC_DS14162,BMG_DS054618,"MONDO: A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. | MeSH: Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities."
+BMGC_DS14163,BMG_DS054641,"NCI: The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon. | MONDO: The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon."
+BMGC_DS14164,BMG_DS054643,"NCI: A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps. | MONDO: A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps."
+BMGC_DS14165,BMG_DS054649,NCI: An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. | MONDO: An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.
+BMGC_DS14166,BMG_DS054656,"NCI: A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. | MONDO: A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns."
+BMGC_DS14167,BMG_DS054657,"NCI: A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. | MONDO: A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns."
+BMGC_DS14168,BMG_DS054658,"NCI: A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. | MONDO: A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns."
+BMGC_DS14169,BMG_DS054659,"NCI: A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. | MONDO: A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns."
+BMGC_DS14170,BMG_DS054663,
+BMGC_DS14171,BMG_DS054664,MONDO: A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.
+BMGC_DS14172,BMG_DS054665,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.
+BMGC_DS14173,BMG_DS054666,
+BMGC_DS14174,BMG_DS054667,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene.
+BMGC_DS14175,BMG_DS054668,
+BMGC_DS14176,BMG_DS054669,"NCI: An X-linked recessive condition caused by mutation(s) in the MAGT1 gene, encoding magnesium transporter protein 1. It is characterized by CD4 lymphopenia, defective T-cell activation and susceptibility to severe chronic viral infections, particularly Epstein-Barr virus (EBV), which may lead to the development of EBV-associated B-cell lymphoproliferative disorders. | MONDO: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias."
+BMGC_DS14177,BMG_DS054670,
+BMGC_DS14178,BMG_DS054671,"SNOMEDCT_US: A rare genetic progeroid syndrome with a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrythmias and skeletal anomalies. Patients typically present with widely opened fontanelle, mainly truncal hypotonia, waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. There is evidence this disease is caused by mutation in the NAA10 gene on chromosome Xq28. | MONDO: Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat."
+BMGC_DS14179,BMG_DS054673,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.
+BMGC_DS14180,BMG_DS054674,"MONDO: Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals."
+BMGC_DS14181,BMG_DS054675,"NCI: An X-linked recessive condition caused by mutation(s) in the UBE2A gene, encoding ubiquitin-conjugating enzyme E2 A. It is characterized by facial dysmorphisms and intellectual impairment. | MONDO: X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures."
+BMGC_DS14182,BMG_DS054676,"MONDO: A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23."
+BMGC_DS14183,BMG_DS054677,"MONDO: A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males."
+BMGC_DS14184,BMG_DS054678,"SNOMEDCT_US: A rare genetic syndrome with cerebellar malformation as a major feature. Characteristics included cerebellar vermis hypo or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, and ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. | MONDO: A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures."
+BMGC_DS14185,BMG_DS054679,
+BMGC_DS14186,BMG_DS054680,MONDO: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
+BMGC_DS14187,BMG_DS054681,"MONDO: Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism."
+BMGC_DS14188,BMG_DS054682,
+BMGC_DS14189,BMG_DS054683,
+BMGC_DS14190,BMG_DS054684,
+BMGC_DS14191,BMG_DS054686,"NCI: A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase)."
+BMGC_DS14192,BMG_DS054688,
+BMGC_DS14193,BMG_DS054690,"MONDO: Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies."
+BMGC_DS14194,BMG_DS054691,"MONDO: An inherited susceptibility or predisposition to developing leukemia, acute myeloid."
+BMGC_DS14195,BMG_DS054693,MONDO: Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene.
+BMGC_DS14196,BMG_DS054695,"MONDO: Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block."
+BMGC_DS14197,BMG_DS054696,MONDO: Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.
+BMGC_DS14198,BMG_DS054697,"MONDO: An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding."
+BMGC_DS14199,BMG_DS054698,
+BMGC_DS14200,BMG_DS054699,
+BMGC_DS14201,BMG_DS054700,MONDO: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
+BMGC_DS14202,BMG_DS054702,"ORPHANET: A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported. Brain imaging may show leukoencephalopathy involving variable regions. The disease is typically fatal in early infancy. | MONDO: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene."
+BMGC_DS14203,BMG_DS054703,MONDO: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.
+BMGC_DS14204,BMG_DS054704,"SNOMEDCT_US: A variant of autosomal dominant optic atrophy associating typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. ADOA plus is caused by mutations in the OPA1 gene (3q29), encoding a dynamin-like GTPase involved in the fusion of the inner mitochondrial membrane. The phenotypes observed in ADOA plus are thus related to mitochondrial DNA instability resulting in multiple mitochondrial DNA deletions. Transmission is autosomal dominant with variable penetrance."
+BMGC_DS14205,BMG_DS054707,"NCI: Neuropathy caused by damage to the small myelinated (A-delta) fibers or unmyelinated C fibers in the peripheral nerves. It manifests with burning pain, shooting pain, allodynia, and hyperesthesia. | MeSH: Disorder of the peripheral nerves that primarily impair small nerve fibers. The affected small nerve fibers include myelinated A-delta fibers (see A FIBERS) and unmyelinated C FIBERS. Because these small fibers innervate skin and help control autonomic function, their neuropathy presents with neuropathic pain, reduced thermal and pain sensitivity, and autonomic dysfunction (e.g. abnormal sweating or facial flushing). Small fiber neuropathy can be idiopathic or associated with underlying diseases (e.g., AMYLOIDOSIS; DIABETES MELLITUS; SARCOIDOSIS; or VASCULITIS)."
+BMGC_DS14206,BMG_DS054713,
+BMGC_DS14207,BMG_DS054714,"MONDO: A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p."
+BMGC_DS14208,BMG_DS054715,
+BMGC_DS14209,BMG_DS054717,
+BMGC_DS14210,BMG_DS054719,
+BMGC_DS14211,BMG_DS054721,
+BMGC_DS14212,BMG_DS054722,
+BMGC_DS14213,BMG_DS054723,
+BMGC_DS14214,BMG_DS054724,
+BMGC_DS14215,BMG_DS054725,
+BMGC_DS14216,BMG_DS054727,MONDO: Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.
+BMGC_DS14217,BMG_DS054728,
+BMGC_DS14218,BMG_DS054729,"NCI: An autosomal recessive condition caused by mutation(s) in the ADAMTSL2 gene, encoding ADAMTS-like protein 2. It is characterized by severe short stature, short hands and feet, skin thickening, and variable cardiorespiratory abnormalities. | MONDO: Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene."
+BMGC_DS14219,BMG_DS054730,
+BMGC_DS14220,BMG_DS054731,
+BMGC_DS14221,BMG_DS054732,
+BMGC_DS14222,BMG_DS054733,MONDO: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.
+BMGC_DS14223,BMG_DS054734,MONDO: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.
+BMGC_DS14224,BMG_DS054735,MONDO: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.
+BMGC_DS14225,BMG_DS054738,MONDO: Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.
+BMGC_DS14226,BMG_DS054742,"MONDO: Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates."
+BMGC_DS14227,BMG_DS054745,
+BMGC_DS14228,BMG_DS054746,"MONDO: Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported."
+BMGC_DS14229,BMG_DS054747,"NCI: An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy. | MONDO: An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy."
+BMGC_DS14230,BMG_DS054749,
+BMGC_DS14231,BMG_DS054750,"MONDO: Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia."
+BMGC_DS14232,BMG_DS054756,
+BMGC_DS14233,BMG_DS054757,
+BMGC_DS14234,BMG_DS054763,MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.
+BMGC_DS14235,BMG_DS054764,"HPO: A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. [PMID:25780588] | MeSH: A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen."
+BMGC_DS14236,BMG_DS054766,
+BMGC_DS14237,BMG_DS054767,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.
+BMGC_DS14238,BMG_DS054768,
+BMGC_DS14239,BMG_DS054770,
+BMGC_DS14240,BMG_DS054771,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.
+BMGC_DS14241,BMG_DS054773,"SNOMEDCT_US: An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. | MONDO: Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly."
+BMGC_DS14242,BMG_DS054774,"SNOMEDCT_US: A rare genetic disease with characteristics of the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing. | MONDO: Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. | MeSH: A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system."
+BMGC_DS14243,BMG_DS054775,"HPO: Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. [http://www.wikidata.org/entity/Q90573458, https://orcid.org/0000-0002-0736-9199, PMID:15159468, PMID:20301504]"
+BMGC_DS14244,BMG_DS054776,MONDO: Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.
+BMGC_DS14245,BMG_DS054777,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.
+BMGC_DS14246,BMG_DS054778,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.
+BMGC_DS14247,BMG_DS054779,"MONDO: A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria."
+BMGC_DS14248,BMG_DS054780,MONDO: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.
+BMGC_DS14249,BMG_DS054781,
+BMGC_DS14250,BMG_DS054782,"MONDO: Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs."
+BMGC_DS14251,BMG_DS054783,"NCI: An autosomal recessive sub-type of hereditary spastic paraplegia caused by mutation(s) in the AP4B1 gene, encoding AP-4 complex subunit beta-1. It is characterized by severe mental retardation and spasticity. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene."
+BMGC_DS14252,BMG_DS054784,MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.
+BMGC_DS14253,BMG_DS054785,MONDO: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.
+BMGC_DS14254,BMG_DS054786,MONDO: Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.
+BMGC_DS14255,BMG_DS054787,MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.
+BMGC_DS14256,BMG_DS054788,"SNOMEDCT_US: A rare genetic primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported. Caused by homozygous mutation in the IMPAD1 gene on chromosome 8q12."
+BMGC_DS14257,BMG_DS054790,
+BMGC_DS14258,BMG_DS054791,"NCI: An autosomal recessive condition caused by mutation(s) in the PIGN gene, encoding GPI ethanolamine phosphate transferase 1. Though the phenotype is variable, it may be characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. | MONDO: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene."
+BMGC_DS14259,BMG_DS054792,
+BMGC_DS14260,BMG_DS054793,
+BMGC_DS14261,BMG_DS054794,MONDO: Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.
+BMGC_DS14262,BMG_DS054795,MONDO: Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.
+BMGC_DS14263,BMG_DS054796,MONDO: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
+BMGC_DS14264,BMG_DS054797,"ORPHANET: A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal."
+BMGC_DS14265,BMG_DS054798,MONDO: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.
+BMGC_DS14266,BMG_DS054799,"ORPHANET: Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. | MONDO: Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections."
+BMGC_DS14267,BMG_DS054800,
+BMGC_DS14268,BMG_DS054801,"ORPHANET: Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia. | MONDO: Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia."
+BMGC_DS14269,BMG_DS054802,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.
+BMGC_DS14270,BMG_DS054803,"NCI: An autosomal recessive condition caused by mutation(s) in the CEP57 gene, encoding centrosomal protein of 57 kDa. It is characterized by variable phenotypes, associated with mosaic aneuploidies. | MONDO: Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene."
+BMGC_DS14271,BMG_DS054804,
+BMGC_DS14272,BMG_DS054806,"ORPHANET: A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory neuropathy, behavioral abnormalities, and dementia. Occurrence of seizures has also been reported. Age of onset is between adolescence and adulthood. The disease is progressive, with fatal outcome typically in the fifth to sixth decade. | MONDO: A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13."
+BMGC_DS14273,BMG_DS054807,MONDO: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.
+BMGC_DS14274,BMG_DS054808,
+BMGC_DS14275,BMG_DS054809,"MONDO: A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner."
+BMGC_DS14276,BMG_DS054810,MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.
+BMGC_DS14277,BMG_DS054811,MONDO: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.
+BMGC_DS14278,BMG_DS054812,
+BMGC_DS14279,BMG_DS054813,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.
+BMGC_DS14280,BMG_DS054814,"SNOMEDCT_US: A rare genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. Can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA) on chromosome 7p13. | MONDO: Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported."
+BMGC_DS14281,BMG_DS054815,"NCI: An autosomal dominant immune dysregulation condition characterized by chronic mucocutaneous candidiasis, as well as other variable clinical features. It is caused by gain-of-function mutation(s) in the STAT1 gene, encoding signal transducer and activator of transcription 1-alpha/beta. | MONDO: Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia."
+BMGC_DS14282,BMG_DS054816,MONDO: An inherited susceptibility or predisposition to developing delayed sleep phase syndrome.
+BMGC_DS14283,BMG_DS054817,MONDO: Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.
+BMGC_DS14284,BMG_DS054819,MONDO: Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.
+BMGC_DS14285,BMG_DS054820,MONDO: Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.
+BMGC_DS14286,BMG_DS054821,"MeSH: Dislocation of the HIP JOINT from an abnormal FEMORAL HEAD to the ACETABULUM relationship. It is most often due to ligamentous laxity, abnormal positioning of the joint and various other developmental, congenital factors, and method of delivery (e.g., OLIGOHYDRAMNIOS). When dislocation is diagnosed in neonates it is referred to as CONGENITAL HIP DYSPLASIA."
+BMGC_DS14287,BMG_DS054822,MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.
+BMGC_DS14288,BMG_DS054823,"NCI: A condition of decreased or absent presence or activity of endothelial transcription factor GATA-2 protein. Deficiency of this protein is associated with immunodeficiency 21 and autosomal dominant and sporadic monocytopenia and mycobacterial infection syndrome (MonoMAC). | MeSH: A rare disorder of the immune system with wide-ranging effects which include GATA2 Transcription Factor dysfunction, immunodeficiency, myelodysplastic syndrome (ineffective blood cell production), lung disease, and problems of the vascular and lymphatic system."
+BMGC_DS14289,BMG_DS054824,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.
+BMGC_DS14290,BMG_DS054825,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.
+BMGC_DS14291,BMG_DS054826,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.
+BMGC_DS14292,BMG_DS054827,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene.
+BMGC_DS14293,BMG_DS054828,MONDO: Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.
+BMGC_DS14294,BMG_DS054829,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.
+BMGC_DS14295,BMG_DS054830,"SNOMEDCT_US: A rare genetic cranial malformation syndrome with characteristics of premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (for example finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13."
+BMGC_DS14296,BMG_DS054831,MONDO: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.
+BMGC_DS14297,BMG_DS054832,
+BMGC_DS14298,BMG_DS054833,MONDO: Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.
+BMGC_DS14299,BMG_DS054834,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.
+BMGC_DS14300,BMG_DS054835,"MONDO: LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal."
+BMGC_DS14301,BMG_DS054836,"MONDO: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene."
+BMGC_DS14302,BMG_DS054837,"SNOMEDCT_US: A bleeding disorder associated with a decreased ability to form blood clots resulting in increased risk of epistaxis, heavy or prolonged bleeding following minor injury or surgery, ecchymosis and menorrhagia. The disease can be caused by mutations in the GP6 gene, leading to the production of no glycoprotein VI (GPVI) protein, an abnormally short, nonfunctional GPVI protein; or a protein that is less able to bind to collagen. Without GPVI binding to collagen, platelets cannot come together efficiently to form a clot. The disease may also be acquired rather than inherited and such cases are associated with autoimmune disorders such as systemic lupus erythematosus (SLE). | MONDO: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene."
+BMGC_DS14303,BMG_DS054838,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.
+BMGC_DS14304,BMG_DS054839,"NCI: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the VPS35 gene, encoding vacuolar protein sorting-associated protein 35. | MONDO: Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene."
+BMGC_DS14305,BMG_DS054840,MONDO: Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.
+BMGC_DS14306,BMG_DS054841,MONDO: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.
+BMGC_DS14307,BMG_DS054842,
+BMGC_DS14308,BMG_DS054843,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.
+BMGC_DS14309,BMG_DS054845,"MONDO: Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene."
+BMGC_DS14310,BMG_DS054846,MONDO: Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.
+BMGC_DS14311,BMG_DS054847,MONDO: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.
+BMGC_DS14312,BMG_DS054848,
+BMGC_DS14313,BMG_DS054849,
+BMGC_DS14314,BMG_DS054850,MONDO: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.
+BMGC_DS14315,BMG_DS054852,"SNOMEDCT_US: Syndrome with characteristics of macroaneurysms of retina which may rupture causing bleeding and loss of vision, in association with supravalvular pulmonic stenosis. The disease is caused by a mutation in the IGFBP7 (insulin-like growth factor-binding protein 7) gene which is active in the vascular endothelium. The IGFBP7 gene mutation results in an abnormally short IGFBP7 protein that does not function properly."
+BMGC_DS14316,BMG_DS054854,MONDO: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.
+BMGC_DS14317,BMG_DS054855,MONDO: Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.
+BMGC_DS14318,BMG_DS054856,
+BMGC_DS14319,BMG_DS054857,"SNOMEDCT_US: A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. | MONDO: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene."
+BMGC_DS14320,BMG_DS054858,"MONDO: Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies."
+BMGC_DS14321,BMG_DS054859,
+BMGC_DS14322,BMG_DS054860,MONDO: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.
+BMGC_DS14323,BMG_DS054861,MONDO: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.
+BMGC_DS14324,BMG_DS054862,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.
+BMGC_DS14325,BMG_DS054863,MONDO: Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.
+BMGC_DS14326,BMG_DS054864,MONDO: Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.
+BMGC_DS14327,BMG_DS054865,
+BMGC_DS14328,BMG_DS054866,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.
+BMGC_DS14329,BMG_DS054867,
+BMGC_DS14330,BMG_DS054868,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.
+BMGC_DS14331,BMG_DS054869,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.
+BMGC_DS14332,BMG_DS054870,"ORPHANET: Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges."
+BMGC_DS14333,BMG_DS054871,
+BMGC_DS14334,BMG_DS054872,"SNOMEDCT_US: A rare inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. | MONDO: Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline."
+BMGC_DS14335,BMG_DS054873,HPO: Reduced level of platelet-activating factor acetylhydrolase. []
+BMGC_DS14336,BMG_DS054874,
+BMGC_DS14337,BMG_DS054875,MONDO: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.
+BMGC_DS14338,BMG_DS054876,MONDO: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.
+BMGC_DS14339,BMG_DS054877,
+BMGC_DS14340,BMG_DS054878,MONDO: Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.
+BMGC_DS14341,BMG_DS054879,
+BMGC_DS14342,BMG_DS054880,"MONDO: Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings."
+BMGC_DS14343,BMG_DS054881,"NCI: A genetic condition associated with mutation(s) in the C19orf12 gene, encoding protein C19orf12. It is characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. | MONDO: Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities."
+BMGC_DS14344,BMG_DS054882,"ORPHANET: A rare mitochondrial disease characterized by infantile onset of severe regression after a period of normal development, epileptic encephalopathy, hypotonia, movement disorder, cardiomyopathy, hyperglycinemia, and lactic acidosis. Optic atrophy may also be present. Brain imaging findings are highly variable and include white matter abnormalities. The disease is typically fatal in infancy. | MONDO: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene."
+BMGC_DS14345,BMG_DS054883,"SNOMEDCT_US: A very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy and iris hypoplasia. There is evidence this syndrome is caused by heterozygous mutation in the MIR184 gene on chromosome 15q25. | MONDO: EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia."
+BMGC_DS14346,BMG_DS054885,MONDO: Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.
+BMGC_DS14347,BMG_DS054886,
+BMGC_DS14348,BMG_DS054887,"SNOMEDCT_US: An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive. | MONDO: A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy."
+BMGC_DS14349,BMG_DS054891,MONDO: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene.
+BMGC_DS14350,BMG_DS054892,"ORPHANET: Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability. | MONDO: Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability."
+BMGC_DS14351,BMG_DS054893,"SNOMEDCT_US: A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. Caused by homozygous mutation in the WWOX gene on chromosome 16q23. | MONDO: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI."
+BMGC_DS14352,BMG_DS054894,MONDO: Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.
+BMGC_DS14353,BMG_DS054895,MONDO: Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.
+BMGC_DS14354,BMG_DS054896,"ORPHANET: A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia. | MONDO: Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures."
+BMGC_DS14355,BMG_DS054897,"MONDO: BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape."
+BMGC_DS14356,BMG_DS054898,MONDO: Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.
+BMGC_DS14357,BMG_DS054899,
+BMGC_DS14358,BMG_DS054900,
+BMGC_DS14359,BMG_DS054901,
+BMGC_DS14360,BMG_DS054902,
+BMGC_DS14361,BMG_DS054903,"NCI: An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. | MONDO: An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase."
+BMGC_DS14362,BMG_DS054904,
+BMGC_DS14363,BMG_DS054905,
+BMGC_DS14364,BMG_DS054906,
+BMGC_DS14365,BMG_DS054907,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.
+BMGC_DS14366,BMG_DS054908,
+BMGC_DS14367,BMG_DS054909,
+BMGC_DS14368,BMG_DS054910,
+BMGC_DS14369,BMG_DS054911,
+BMGC_DS14370,BMG_DS054912,
+BMGC_DS14371,BMG_DS054913,
+BMGC_DS14372,BMG_DS054914,
+BMGC_DS14373,BMG_DS054915,
+BMGC_DS14374,BMG_DS054916,MONDO: Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.
+BMGC_DS14375,BMG_DS054917,
+BMGC_DS14376,BMG_DS054920,
+BMGC_DS14377,BMG_DS054921,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.
+BMGC_DS14378,BMG_DS054923,MONDO: Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.
+BMGC_DS14379,BMG_DS054924,MONDO: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
+BMGC_DS14380,BMG_DS054925,
+BMGC_DS14381,BMG_DS054929,HPO: Concentration of the complement component C4b in the blood circulation below the lower limit of normal. [https://emedicine.medscape.com/article/135478-overview] | MONDO: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.
+BMGC_DS14382,BMG_DS054930,MONDO: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.
+BMGC_DS14383,BMG_DS054931,"NCI: An autosomal recessive condition caused by mutation(s) in the POLR3B gene, encoding DNA-directed RNA polymerase III subunit RPC2. It is characterized by early onset cerebellar ataxia and mild intellectual disability. Diffuse cerebral hypomyelination and cerebellar atrophy are apparent on MRI. Hypogonadotropic hypogonadism and hypodontia are also features of this condition. | MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene."
+BMGC_DS14384,BMG_DS054932,"MONDO: Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene."
+BMGC_DS14385,BMG_DS054933,
+BMGC_DS14386,BMG_DS054934,"MONDO: Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene."
+BMGC_DS14387,BMG_DS054935,
+BMGC_DS14388,BMG_DS054936,"MONDO: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene."
+BMGC_DS14389,BMG_DS054937,"MONDO: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene."
+BMGC_DS14390,BMG_DS054938,"MONDO: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene."
+BMGC_DS14391,BMG_DS054939,MONDO: An inherited susceptibility or predisposition to developing graft vs. host disease.
+BMGC_DS14392,BMG_DS054940,"ORPHANET: A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation."
+BMGC_DS14393,BMG_DS054941,
+BMGC_DS14394,BMG_DS054942,"SNOMEDCT_US: A rare genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behavior, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. | MONDO: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern."
+BMGC_DS14395,BMG_DS054943,MONDO: Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.
+BMGC_DS14396,BMG_DS054945,"MONDO: Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated."
+BMGC_DS14397,BMG_DS054946,MONDO: A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.
+BMGC_DS14398,BMG_DS054947,
+BMGC_DS14399,BMG_DS054948,MONDO: An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.
+BMGC_DS14400,BMG_DS054950,MONDO: A cataract that has material basis in variation in the region 12q24.2-q24.3.
+BMGC_DS14401,BMG_DS054951,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.
+BMGC_DS14402,BMG_DS054952,MONDO: Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.
+BMGC_DS14403,BMG_DS054954,MONDO: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene.
+BMGC_DS14404,BMG_DS054956,MONDO: Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.
+BMGC_DS14405,BMG_DS054957,MONDO: Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.
+BMGC_DS14406,BMG_DS054959,MONDO: Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.
+BMGC_DS14407,BMG_DS054961,MONDO: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.
+BMGC_DS14408,BMG_DS054962,MONDO: Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.
+BMGC_DS14409,BMG_DS054963,"SNOMEDCT_US: A rare genetic axonal hereditary motor and sensory neuropathy disorder with characteristics of adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. The disease can be caused by homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. | MONDO: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene."
+BMGC_DS14410,BMG_DS054964,MONDO: An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
+BMGC_DS14411,BMG_DS054965,MONDO: Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.
+BMGC_DS14412,BMG_DS054966,MONDO: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.
+BMGC_DS14413,BMG_DS054967,"MONDO: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene."
+BMGC_DS14414,BMG_DS054968,"ORPHANET: A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported."
+BMGC_DS14415,BMG_DS054969,
+BMGC_DS14416,BMG_DS054970,"MONDO: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person."
+BMGC_DS14417,BMG_DS054971,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.
+BMGC_DS14418,BMG_DS054972,
+BMGC_DS14419,BMG_DS054973,
+BMGC_DS14420,BMG_DS054974,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.
+BMGC_DS14421,BMG_DS054975,MONDO: Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.
+BMGC_DS14422,BMG_DS054976,"MONDO: A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease."
+BMGC_DS14423,BMG_DS054977,MONDO: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.
+BMGC_DS14424,BMG_DS054978,MONDO: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.
+BMGC_DS14425,BMG_DS054979,
+BMGC_DS14426,BMG_DS054980,MONDO: Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.
+BMGC_DS14427,BMG_DS054981,MONDO: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.
+BMGC_DS14428,BMG_DS054982,"ORPHANET: A rare genetic coagulation disorder characterized by marked bleeding tendency and posttraumatic bleeding with easy bruising, soft tissue and muscle bleeding, hemarthroses, and menorrhagia due to an increase of soluble thrombomodulin in plasma with subsequent protein C activation and reduction of thrombin generation within a potential thrombus. Abnormal laboratory findings include markedly elevated plasma thrombomodulin, reduced prothrombin consumption, and decreased thrombin generation."
+BMGC_DS14429,BMG_DS054983,"SNOMEDCT_US: A rare hereditary spastic ataxia disorder with childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. Caused by homozygous mutation in the AFG3L2 gene on chromosome 18p11. | MONDO: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated."
+BMGC_DS14430,BMG_DS054985,"NCI: An autosomal recessive condition caused by mutation(s) in the WIPF1 gene, encoding WAS/WASL-interacting protein family member 1. It is characterized by recurrent infections, eczema, thrombocytopenia, and T-cell and NK-cell dysfunction. | MONDO: Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene."
+BMGC_DS14431,BMG_DS054986,MONDO: A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.
+BMGC_DS14432,BMG_DS054987,"MONDO: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene."
+BMGC_DS14433,BMG_DS054988,"ORPHANET: A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning &lt;i&gt;in utero&lt;/i&gt;. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. | MONDO: A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood."
+BMGC_DS14434,BMG_DS054989,"NCI: An autosomal recessive condition caused by mutation(s) in the CRADD gene, encoding death domain-containing protein CRADD. It is characterized by mild to moderate intellectual disability and lissencephaly with anterior-predominant pachygyria. | MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene."
+BMGC_DS14435,BMG_DS054990,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.
+BMGC_DS14436,BMG_DS054991,
+BMGC_DS14437,BMG_DS054992,
+BMGC_DS14438,BMG_DS054993,MONDO: Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.
+BMGC_DS14439,BMG_DS054994,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1). | MONDO: DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)."
+BMGC_DS14440,BMG_DS054995,MONDO: Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.
+BMGC_DS14441,BMG_DS054996,
+BMGC_DS14442,BMG_DS054997,MONDO: An inherited susceptibility or predisposition to developing intracerebral hemorrhage.
+BMGC_DS14443,BMG_DS054998,
+BMGC_DS14444,BMG_DS055000,MONDO: Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.
+BMGC_DS14445,BMG_DS055001,MONDO: Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.
+BMGC_DS14446,BMG_DS055002,"SNOMEDCT_US: Syndrome with significant variations in manifestations even among members of the same family. Some affected individuals have no apparent signs or symptoms or only mild features, while others may have intellectual disability, delayed development and a wide range of physical abnormalities. Seizures are common and autistic spectrum disorder, schizophrenia, aggression, self-injury have been reported. Microcephaly, abnormalities of the eyes, heart, kidneys and brain are also associated features. | MONDO: 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia."
+BMGC_DS14447,BMG_DS055003,"MONDO: 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported."
+BMGC_DS14448,BMG_DS055004,
+BMGC_DS14449,BMG_DS055005,
+BMGC_DS14450,BMG_DS055006,"MONDO: A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment."
+BMGC_DS14451,BMG_DS055008,"SNOMEDCT_US: Disease with characteristics of recurrent seizures, encephalopathy and intellectual disability with onset of symptoms typically beginning in infancy. Seizures may be refractory and intellectual disability may be mild to severe. Sudden unexpected death in epilepsy may occur in rare cases. The disease is caused by mutations in the SCN8A gene, which provides instructions for making the alpha subunit of Nav1.6. Follows an autosomal dominant pattern of inheritance however most cases of this condition result from de novo mutation. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene."
+BMGC_DS14452,BMG_DS055009,"SNOMEDCT_US: A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13. | MONDO: Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms."
+BMGC_DS14453,BMG_DS055010,"SNOMEDCT_US: A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable but restricted to the central nervous system and include among others slowing of cognitive performance, seizures and movement disorder with a combination of pyramidal, extrapyramidal and cerebellar features."
+BMGC_DS14454,BMG_DS055011,MONDO: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene.
+BMGC_DS14455,BMG_DS055012,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.
+BMGC_DS14456,BMG_DS055013,
+BMGC_DS14457,BMG_DS055014,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.
+BMGC_DS14458,BMG_DS055016,"ORPHANET: A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy."
+BMGC_DS14459,BMG_DS055017,MONDO: Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.
+BMGC_DS14460,BMG_DS055018,"SNOMEDCT_US: Primary dystonia DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. | MONDO: Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia."
+BMGC_DS14461,BMG_DS055020,
+BMGC_DS14462,BMG_DS055027,MONDO: Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene.
+BMGC_DS14463,BMG_DS055028,MONDO: Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.
+BMGC_DS14464,BMG_DS055029,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.
+BMGC_DS14465,BMG_DS055032,"MONDO: A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) | MeSH: Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA."
+BMGC_DS14466,BMG_DS055033,MONDO: Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.
+BMGC_DS14467,BMG_DS055035,
+BMGC_DS14468,BMG_DS055036,
+BMGC_DS14469,BMG_DS055037,"NCI: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ARX gene, encoding homeobox protein ARX. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene."
+BMGC_DS14470,BMG_DS055038,NCI: Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. | MONDO: Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.
+BMGC_DS14471,BMG_DS055040,"SNOMEDCT_US: A very rare severe motor neuron disease with manifestation of progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. The disease is usually slowly progressive and some patients have been reported to become bedridden by 12 to 50 years of age. Mutations in the following genes have been found in patients ALS2 (2q33-q35), and rarely SIGMAR1 (9p13.3), SPG11 (15q13-q15) and FUS (16p11.2). | MONDO: Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age."
+BMGC_DS14472,BMG_DS055044,"SNOMEDCT_US: Inherited atrial fibrillation that is not due to a structural abnormality or secondary cause. The condition usually occurs in people under 60 years of age. | MONDO: An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular."
+BMGC_DS14473,BMG_DS055059,"MONDO: Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease"
+BMGC_DS14474,BMG_DS055061,NCI: Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. | MONDO: Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.
+BMGC_DS14475,BMG_DS055062,NCI: Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. | MONDO: Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.
+BMGC_DS14476,BMG_DS055063,NCI: Fanconi anemia caused by mutations of the FANCG gene. | MONDO: Fanconi anemia caused by mutations of the FANCG gene.
+BMGC_DS14477,BMG_DS055064,"NCI: Fanconi anemia caused by mutations in the FANCL gene, encoding E3 ubiquitin-protein ligase FANCL. | MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene."
+BMGC_DS14478,BMG_DS055065,MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.
+BMGC_DS14479,BMG_DS055066,MONDO: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.
+BMGC_DS14480,BMG_DS055067,MONDO: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.
+BMGC_DS14481,BMG_DS055071,
+BMGC_DS14482,BMG_DS055080,"NCI: Myeloid and rarely lymphoid neoplasms characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. Patients usually present with chronic myelomonocytic leukemia and less often with atypical chronic myeloid leukemia, or chronic eosinophilic leukemia. | MONDO: A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss."
+BMGC_DS14483,BMG_DS055095,"NCI: An autosomal dominant condition caused by mutation(s) in the NOP56 gene, encoding nucleolar protein 56. It is characterized by slowly progressive adult-onset gait ataxia, associated with eye movement abnormalities, tongue fasciculations and variable upper motor neuron signs. | MONDO: Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia."
+BMGC_DS14484,BMG_DS055096,MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.
+BMGC_DS14485,BMG_DS055097,"MONDO: Herniation of the upper part of the stomach through the diaphragm. | MeSH: STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus."
+BMGC_DS14486,BMG_DS055098,"MeSH: A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ."
+BMGC_DS14487,BMG_DS055099,"NCI: Hypogonadotropic hypogonadism not associated with a deficiency of other pituitary hormones. | MeSH: Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism)."
+BMGC_DS14488,BMG_DS055102,"MeSH: An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)"
+BMGC_DS14489,BMG_DS055103,MONDO: Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.
+BMGC_DS14490,BMG_DS055104,"NCI: An inherited condition caused by mutations in the CRX gene, encoding cone-rod homeobox protein. It is characterized by loss of visual acuity in early childhood or late adolescence, impaired color vision, loss of peripheral vision, and nyctalopia. The severity of symptoms may vary. | MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene. | MeSH: Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness."
+BMGC_DS14491,BMG_DS055106,"MeSH: A disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables. Various other types of speech dysfluencies may also be involved including interjections, broken words, audible or silent blocking, circumlocutions, words produced with an excess of physical tension, and monosyllabic whole word repetitions. Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (From DSM-IV, 1994)"
+BMGC_DS14492,BMG_DS055107,MeSH: A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets.
+BMGC_DS14493,BMG_DS055108,"MeSH: Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132)."
+BMGC_DS14494,BMG_DS055109,"NCI: An inherited, usually autosomal recessive condition cause by mutation(s) in the RNASEH2B gene, encoding ribonuclease H2 subunit B. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon. | MONDO: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene."
+BMGC_DS14495,BMG_DS055110,"MONDO: A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent."
+BMGC_DS14496,BMG_DS055111,"MONDO: Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"
+BMGC_DS14497,BMG_DS055113,
+BMGC_DS14498,BMG_DS055114,
+BMGC_DS14499,BMG_DS055115,"HPO: Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. [https://orcid.org/0000-0002-0736-9199, PMID:20615230]"
+BMGC_DS14500,BMG_DS055116,
+BMGC_DS14501,BMG_DS055118,"MONDO: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated."
+BMGC_DS14502,BMG_DS055120,"SNOMEDCT_US: A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage. | MONDO: Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome."
+BMGC_DS14503,BMG_DS055123,
+BMGC_DS14504,BMG_DS055125,
+BMGC_DS14505,BMG_DS055126,"MONDO: A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum."
+BMGC_DS14506,BMG_DS055129,"MONDO: Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa."
+BMGC_DS14507,BMG_DS055130,"ORPHANET: A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. | MONDO: Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH."
+BMGC_DS14508,BMG_DS055131,"MeSH: Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL."
+BMGC_DS14509,BMG_DS055132,"MeSH: Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL."
+BMGC_DS14510,BMG_DS055133,"MeSH: Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL."
+BMGC_DS14511,BMG_DS055134,"MeSH: A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES."
+BMGC_DS14512,BMG_DS055135,"ORPHANET: Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure. | MONDO: Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure."
+BMGC_DS14513,BMG_DS055136,MONDO: Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.
+BMGC_DS14514,BMG_DS055137,MeSH: The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
+BMGC_DS14515,BMG_DS055138,MeSH: The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
+BMGC_DS14516,BMG_DS055145,
+BMGC_DS14517,BMG_DS055146,"NCI: A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism. | MONDO: A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). | MeSH: A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN."
+BMGC_DS14518,BMG_DS055147,"MeSH: Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene."
+BMGC_DS14519,BMG_DS055228,"SNOMEDCT_US: A rare functional disorder with recurrent episodes of torticollis posturing of the head (inclination or tilting of the head to one side) in healthy children. The prevalence is unknown and the benign nature of the disorder probably means that it is under reported. Onset occurs within the first year of life with episodes occurring between every few weeks and every few months. The duration of the torticollis varies between patients, but usually lasts from a few hours to a few days. The frequency and duration of the torticollis episodes decrease as the patient gets older and episodes usually stop completely by 5 years of age. The disorder usually occurs sporadically, but familial occurrence has been reported. | MONDO: Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children."
+BMGC_DS14520,BMG_DS055239,NCI: A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay. | MONDO: A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.
+BMGC_DS14521,BMG_DS055261,"ORPHANET: A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion. | MONDO: An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome."
+BMGC_DS14522,BMG_DS055264,
+BMGC_DS14523,BMG_DS055265,
+BMGC_DS14524,BMG_DS055267,"NCI: Glycogen storage disease caused by mutation(s) in the SLC2A2 gene, encoding solute carrier family 2, facilitated glucose transporter member 2. It is characterized by marked proximal renal tubular dysfunction and hepatorenal glycogen accumulation. | MONDO: Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. | MeSH: A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA."
+BMGC_DS14525,BMG_DS055269,MONDO: An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.
+BMGC_DS14526,BMG_DS055272,"MeSH: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene."
+BMGC_DS14527,BMG_DS055273,"MONDO: Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies."
+BMGC_DS14528,BMG_DS055275,"SNOMEDCT_US: Acrorenal syndrome comprises a wide spectrum of congenital malformation disorders with characteristics of the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (for example unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract, abdominal well defects, intestinal atresia and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. | MONDO: Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected."
+BMGC_DS14529,BMG_DS055276,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the CAV3 gene, MYH7 gene, or MYLK2 gene encoding caveolin-3, myosin heavy chain 7, and myosin light chain kinase 2, skeletal/cardiac muscle respectively. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene."
+BMGC_DS14530,BMG_DS055279,MONDO: Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.
+BMGC_DS14531,BMG_DS055282,"ORPHANET: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. | MeSH: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity."
+BMGC_DS14532,BMG_DS055284,
+BMGC_DS14533,BMG_DS055285,NCI: A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with severe mental defects and myoclonic seizures. | MONDO: Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.
+BMGC_DS14534,BMG_DS055287,"MONDO: Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). | MeSH: Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent."
+BMGC_DS14535,BMG_DS055289,MONDO: A congenital stationary night blindness caused by variants in the X-linked NYX gene.
+BMGC_DS14536,BMG_DS055290,"SNOMEDCT_US: An extremely rare lethal autosomal recessive disorder characterised by massive birth weight, swollen globular body, generalised oedema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism, excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. | MONDO: Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date."
+BMGC_DS14537,BMG_DS055291,ORPHANET: Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term). | MONDO: Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).
+BMGC_DS14538,BMG_DS055293,"MONDO: A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients."
+BMGC_DS14539,BMG_DS055295,HPO: An abnormality of the anus or rectum. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS14540,BMG_DS055296,"SNOMEDCT_US: Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance. | MONDO: 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit."
+BMGC_DS14541,BMG_DS055298,MONDO: A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.
+BMGC_DS14542,BMG_DS055300,"HPO: Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously. [] | MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS14543,BMG_DS055304,"SNOMEDCT_US: A rare form of hereditary spastic paraplegia with characteristics of childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. | MONDO: Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging."
+BMGC_DS14544,BMG_DS055306,NCI: Nephrotic syndrome for which no cause has been identified. | MONDO: Nephrotic syndrome for which no cause has been identified.
+BMGC_DS14545,BMG_DS055307,"ORPHANET: A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). | MONDO: Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis)."
+BMGC_DS14546,BMG_DS055308,
+BMGC_DS14547,BMG_DS055311,
+BMGC_DS14548,BMG_DS055312,
+BMGC_DS14549,BMG_DS055314,
+BMGC_DS14550,BMG_DS055316,MONDO: X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive.
+BMGC_DS14551,BMG_DS055319,"MONDO: Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX."
+BMGC_DS14552,BMG_DS055320,
+BMGC_DS14553,BMG_DS055321,
+BMGC_DS14554,BMG_DS055324,
+BMGC_DS14555,BMG_DS055326,
+BMGC_DS14556,BMG_DS055337,
+BMGC_DS14557,BMG_DS055345,
+BMGC_DS14558,BMG_DS055346,HPO: Nephrotic syndrome with onset within the first three months of life. [HPO_CONTRIBUTOR:Eurenomics_fschaefer] | MONDO: An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome.
+BMGC_DS14559,BMG_DS055347,
+BMGC_DS14560,BMG_DS055352,MONDO: X-linked form of acute leukemia
+BMGC_DS14561,BMG_DS055355,"SNOMEDCT_US: A limb girdle muscular dystrophy with characteristics of muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria."
+BMGC_DS14562,BMG_DS055357,"ORPHANET: A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood."
+BMGC_DS14563,BMG_DS055362,
+BMGC_DS14564,BMG_DS055371,
+BMGC_DS14565,BMG_DS055372,
+BMGC_DS14566,BMG_DS055373,"SNOMEDCT_US: Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. | MONDO: Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive."
+BMGC_DS14567,BMG_DS055378,
+BMGC_DS14568,BMG_DS055379,"SNOMEDCT_US: Syndrome caused by impairment of mitochondria. Whilst mitochondrial disorders may be caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. Symptoms begin in early life and affected individuals usually do not live past infancy. Symptoms include encephalopathy, hypotonia, seizures and psychomotor delay. Most affected babies have lactic acidosis that can be life threatening. | MONDO: Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual."
+BMGC_DS14569,BMG_DS055380,
+BMGC_DS14570,BMG_DS055385,
+BMGC_DS14571,BMG_DS055386,
+BMGC_DS14572,BMG_DS055387,
+BMGC_DS14573,BMG_DS055394,
+BMGC_DS14574,BMG_DS055400,
+BMGC_DS14575,BMG_DS055406,
+BMGC_DS14576,BMG_DS055419,"SNOMEDCT_US: X-linked mental retardation with characteristics of Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). It has been described in two brothers, one of whom died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked dominant. | MONDO: A syndrome characterized by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome)."
+BMGC_DS14577,BMG_DS055420,
+BMGC_DS14578,BMG_DS055421,
+BMGC_DS14579,BMG_DS055432,"NCI: A rare, genetically heterogeneous disorder caused by mutations in the SCN1A, GABRG2, GABRD, SCN9A, or STX1B genes. It is characterized by early childhood onset febrile seizures, generalized tonic-clonic seizures, absence seizures, myoclonic seizures, and atonic seizures | MONDO: A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS)."
+BMGC_DS14580,BMG_DS055463,
+BMGC_DS14581,BMG_DS055638,
+BMGC_DS14582,BMG_DS055642,
+BMGC_DS14583,BMG_DS055645,
+BMGC_DS14584,BMG_DS055736,"HPO: The presence of developmental dysplasia of the kidney. [https://orcid.org/0000-0002-0736-9199] | MONDO: Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia."
+BMGC_DS14585,BMG_DS055737,"HPO: Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. [https://orcid.org/0000-0003-3411-9598, PMID:29261990] | MONDO: Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement."
+BMGC_DS14586,BMG_DS055738,
+BMGC_DS14587,BMG_DS055741,"MeSH: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate."
+BMGC_DS14588,BMG_DS055746,"MONDO: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. | MeSH: A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported."
+BMGC_DS14589,BMG_DS055747,MeSH: A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.
+BMGC_DS14590,BMG_DS055748,NCI: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart. | MONDO: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart.
+BMGC_DS14591,BMG_DS055749,MeSH: A disease of the inner ear (LABYRINTH) that is characterized by fluctuating SENSORINEURAL HEARING LOSS; TINNITUS; episodic VERTIGO; and aural fullness. It is the most common form of endolymphatic hydrops.
+BMGC_DS14592,BMG_DS055752,"ORPHANET: A subtype of cystinosis characterized by an accumulation of cystine in the organs and tissues, particularly in the kidneys and eyes, and that clinically manifests from infancy with renal Fanconi syndrome, photophobia, hypothyroidism, impaired growth and rickets, in addition to various other systemic effects. Progressive extra-renal manifestations include hypothyroidism, hypogonadism and male infertility, insulin-dependent diabetes, hepatosplenomegaly with portal hypertension, muscle involvement with distal muscle weakness and atrophy, pharyngeal and oral dysfunction, swallowing difficulties, cerebral involvement with hypotonia, speech and walking difficulties, and cerebellar syndrome. | MONDO: Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."
+BMGC_DS14593,BMG_DS055753,
+BMGC_DS14594,BMG_DS055754,"NCI: An autosomal recessive condition caused by mutation(s) in one of several genes, most often SLC26A4 encoding pendrin. It is characterized by hearing loss and enlargement of the vestibular aqueduct. Mutation(s) in the SLC26A4 gene also cause Pendred syndrome. | MONDO: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes."
+BMGC_DS14595,BMG_DS055755,
+BMGC_DS14596,BMG_DS055756,SNOMEDCT_US: A rare genetic isolated dystonia with characteristics of adult-onset non-progressive focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor. | MONDO: Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.
+BMGC_DS14597,BMG_DS055757,"ORPHANET: A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy. | MONDO: Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene."
+BMGC_DS14598,BMG_DS055758,
+BMGC_DS14599,BMG_DS055759,MONDO: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.
+BMGC_DS14600,BMG_DS055760,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.
+BMGC_DS14601,BMG_DS055761,MONDO: Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene.
+BMGC_DS14602,BMG_DS055762,"NCI: An autosomal recessive condition caused by mutation(s) in the GRN gene, encoding progranulin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. | MONDO: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene."
+BMGC_DS14603,BMG_DS055763,MONDO: An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.
+BMGC_DS14604,BMG_DS055764,
+BMGC_DS14605,BMG_DS055765,MONDO: Any essential tremor in which the cause of the disease is a mutation in the FUS gene.
+BMGC_DS14606,BMG_DS055766,"SNOMEDCT_US: A very rare complex type of hereditary spastic paraplegia with characteristics of early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. Caused by mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. | MONDO: A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A."
+BMGC_DS14607,BMG_DS055767,"SNOMEDCT_US: A rare complex form of hereditary spastic paraplegia with the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. Caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. | MONDO: A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2."
+BMGC_DS14608,BMG_DS055768,"SNOMEDCT_US: A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial."
+BMGC_DS14609,BMG_DS055769,"SNOMEDCT_US: A rare form of hereditary spastic paraplegia with characteristics of delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. Caused by homozygous or compound heterozygous mutation in the CYP2U1 gene on chromosome 4q25. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene."
+BMGC_DS14610,BMG_DS055770,MONDO: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.
+BMGC_DS14611,BMG_DS055771,"SNOMEDCT_US: A rare genetic movement disorder with characteristics of autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. The disease is caused by heterozygous mutation in the NOL3 gene on chromosome 16q22. | MONDO: Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22."
+BMGC_DS14612,BMG_DS055772,
+BMGC_DS14613,BMG_DS055773,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene.
+BMGC_DS14614,BMG_DS055774,"MONDO: Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones."
+BMGC_DS14615,BMG_DS055775,"MeSH: A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells."
+BMGC_DS14616,BMG_DS055776,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.
+BMGC_DS14617,BMG_DS055777,
+BMGC_DS14618,BMG_DS055778,MONDO: Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.
+BMGC_DS14619,BMG_DS055779,"ORPHANET: A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. | MeSH: A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported."
+BMGC_DS14620,BMG_DS055780,"ORPHANET: A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis."
+BMGC_DS14621,BMG_DS055781,"SNOMEDCT_US: A rare central nervous system malformation with characteristics of a specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been reported. | MONDO: Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation."
+BMGC_DS14622,BMG_DS055783,"ORPHANET: Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. | MONDO: X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern."
+BMGC_DS14623,BMG_DS055786,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.
+BMGC_DS14624,BMG_DS055787,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.
+BMGC_DS14625,BMG_DS055788,MONDO: An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
+BMGC_DS14626,BMG_DS055789,
+BMGC_DS14627,BMG_DS055790,
+BMGC_DS14628,BMG_DS055791,MONDO: Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene.
+BMGC_DS14629,BMG_DS055792,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.
+BMGC_DS14630,BMG_DS055793,"MONDO: DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. | MeSH: Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)."
+BMGC_DS14631,BMG_DS055794,"ORPHANET: A group of rare, genetic, progressive muscular dystrophies, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and a symptomatic form in female carriers. The diseases represent a spectrum of severity ranging from progressive skeletal and cardiac muscle wasting and weakness (DMD, BMD) to less severe muscle weakness or isolated cardiomyopathy affecting carrier females. | MeSH: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)"
+BMGC_DS14632,BMG_DS055795,"SNOMEDCT_US: A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. | MONDO: Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene."
+BMGC_DS14633,BMG_DS055796,MONDO: Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
+BMGC_DS14634,BMG_DS055797,
+BMGC_DS14635,BMG_DS055798,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease."
+BMGC_DS14636,BMG_DS055799,"MeSH: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)"
+BMGC_DS14637,BMG_DS055800,MeSH: A genetic or acquired polyuric disorder characterized by persistent hypotonic urine and HYPOKALEMIA. This condition is due to renal tubular insensitivity to VASOPRESSIN and failure to reduce urine volume. It may be the result of mutations of genes encoding VASOPRESSIN RECEPTORS or AQUAPORIN-2; KIDNEY DISEASES; adverse drug effects; or complications from PREGNANCY.
+BMGC_DS14638,BMG_DS055801,MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene.
+BMGC_DS14639,BMG_DS055802,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.
+BMGC_DS14640,BMG_DS055803,
+BMGC_DS14641,BMG_DS055805,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene.
+BMGC_DS14642,BMG_DS055806,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.
+BMGC_DS14643,BMG_DS055809,"MeSH: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate."
+BMGC_DS14644,BMG_DS055815,MONDO: Schizophrenia which does not respond to commonly used treatments. | MeSH: A subset of schizophrenia with an inadequate response in target symptoms following treatment with two or more ANTIPSYCHOTICS.
+BMGC_DS14645,BMG_DS055818,MONDO: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.
+BMGC_DS14646,BMG_DS055819,
+BMGC_DS14647,BMG_DS055820,
+BMGC_DS14648,BMG_DS055826,
+BMGC_DS14649,BMG_DS055827,
+BMGC_DS14650,BMG_DS055829,"MONDO: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait."
+BMGC_DS14651,BMG_DS055831,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease."
+BMGC_DS14652,BMG_DS055832,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome."
+BMGC_DS14653,BMG_DS055833,
+BMGC_DS14654,BMG_DS055836,
+BMGC_DS14655,BMG_DS055841,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene.
+BMGC_DS14656,BMG_DS055843,
+BMGC_DS14657,BMG_DS055844,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease. | MONDO: A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation."
+BMGC_DS14658,BMG_DS055846,"NCI: An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present. | MONDO: An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present."
+BMGC_DS14659,BMG_DS055847,
+BMGC_DS14660,BMG_DS055849,
+BMGC_DS14661,BMG_DS055850,
+BMGC_DS14662,BMG_DS055851,"MONDO: A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28."
+BMGC_DS14663,BMG_DS055852,MONDO: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.
+BMGC_DS14664,BMG_DS055854,"NCI: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. | MONDO: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency."
+BMGC_DS14665,BMG_DS055855,"SNOMEDCT_US: A rare form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of early-onset developmental delay and further neurological deterioration in early adulthood. Caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11. | MONDO: Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood."
+BMGC_DS14666,BMG_DS055856,"MONDO: Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state."
+BMGC_DS14667,BMG_DS055860,
+BMGC_DS14668,BMG_DS055861,"NCI: An autosomal recessive condition caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. It is characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. | MONDO: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene."
+BMGC_DS14669,BMG_DS055863,
+BMGC_DS14670,BMG_DS055864,
+BMGC_DS14671,BMG_DS055866,"MONDO: Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
+BMGC_DS14672,BMG_DS055868,MONDO: A meningioma that is transmitted from the parents to an offspring.
+BMGC_DS14673,BMG_DS055869,MONDO: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.
+BMGC_DS14674,BMG_DS055870,
+BMGC_DS14675,BMG_DS055871,MONDO: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.
+BMGC_DS14676,BMG_DS055873,
+BMGC_DS14677,BMG_DS055874,"NCI: An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the GFPT1 gene, encoding glutamine--fructose-6-phosphate aminotransferase 1. | MONDO: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene."
+BMGC_DS14678,BMG_DS055875,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.
+BMGC_DS14679,BMG_DS055883,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.
+BMGC_DS14680,BMG_DS055884,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.
+BMGC_DS14681,BMG_DS055885,"SNOMEDCT_US: A rare autosomal recessive primary immunodeficiency characterised by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, haemophagocytic lymphohistiocytosis and smooth muscle tumour. Patients present with persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathy and hepatosplenomegaly accompanied by a high EBV viral load in the blood. Additional manifestations are autoimmune diseases like haemolytic anaemia or renal disease. | MONDO: A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.."
+BMGC_DS14682,BMG_DS055886,
+BMGC_DS14683,BMG_DS055888,MONDO: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.
+BMGC_DS14684,BMG_DS055889,MONDO: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.
+BMGC_DS14685,BMG_DS055890,MONDO: Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.
+BMGC_DS14686,BMG_DS055893,"ORPHANET: A rare congenital disorder of glycosylation characterized by neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis, or cirrhosis), and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis, and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy, and enlarged ventricles."
+BMGC_DS14687,BMG_DS055894,MONDO: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.
+BMGC_DS14688,BMG_DS055895,MONDO: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.
+BMGC_DS14689,BMG_DS055896,MONDO: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.
+BMGC_DS14690,BMG_DS055897,MONDO: Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.
+BMGC_DS14691,BMG_DS055898,"NCI: An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CPLANE1 gene, encoding ciliogenesis and planar polarity effector 1. | MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene."
+BMGC_DS14692,BMG_DS055899,MONDO: Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.
+BMGC_DS14693,BMG_DS055907,MONDO: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
+BMGC_DS14694,BMG_DS055908,MONDO: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.
+BMGC_DS14695,BMG_DS055909,"NCI: An autosomal recessive condition caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. It is characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors. | MONDO: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene."
+BMGC_DS14696,BMG_DS055910,
+BMGC_DS14697,BMG_DS055911,
+BMGC_DS14698,BMG_DS055912,
+BMGC_DS14699,BMG_DS055913,
+BMGC_DS14700,BMG_DS055914,"NCI: An autosomal recessive condition caused by mutation(s) in the UVSSA gene, encoding UV-stimulated scaffold protein A. it is characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. | MONDO: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene."
+BMGC_DS14701,BMG_DS055915,"MONDO: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene."
+BMGC_DS14702,BMG_DS055916,
+BMGC_DS14703,BMG_DS055917,"MONDO: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated."
+BMGC_DS14704,BMG_DS055918,MONDO: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.
+BMGC_DS14705,BMG_DS055919,"MONDO: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound."
+BMGC_DS14706,BMG_DS055921,"MONDO: Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency."
+BMGC_DS14707,BMG_DS055923,
+BMGC_DS14708,BMG_DS055924,MONDO: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.
+BMGC_DS14709,BMG_DS055926,"MONDO: Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life."
+BMGC_DS14710,BMG_DS055928,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.
+BMGC_DS14711,BMG_DS055929,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.
+BMGC_DS14712,BMG_DS055930,SNOMEDCT_US: A rare anomaly of puberty or/and menstrual cycle with characteristics of recurrent fevers (higher than 38 degrees Celsius) associated with the luteal phase of the menstrual cycle in women.
+BMGC_DS14713,BMG_DS055932,MONDO: A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.
+BMGC_DS14714,BMG_DS055933,"NCI: An autosomal recessive condition caused by mutation(s) in the EXOSC3 gene, encoding exosome complex component RRP40. It is characterized by severe intellectual disability, skeletal muscle weakness, and seizures. | MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene."
+BMGC_DS14715,BMG_DS055934,HPO: A profound delay in the achievement of motor or mental milestones in the domains of development of a child. [https://orcid.org/0000-0002-6410-0882]
+BMGC_DS14716,BMG_DS055935,
+BMGC_DS14717,BMG_DS055936,
+BMGC_DS14718,BMG_DS055938,
+BMGC_DS14719,BMG_DS055939,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene.
+BMGC_DS14720,BMG_DS055940,"NCI: An autosomal recessive common variable immunodeficiency caused by mutation(s) in the LRBA gene, encoding lipopolysaccharide-responsive and beige-like anchor protein. It is characterized by recurrent infections and the development of autoimmune disorders."
+BMGC_DS14721,BMG_DS055941,MONDO: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.
+BMGC_DS14722,BMG_DS055942,"NCI: A rare autosomal recessive condition caused by mutation(s) in the SLC52A2 gene, encoding solute carrier family 52, riboflavin transporter, member 2. It is characterized by progressive pontobulbar palsy associated with sensorineural deafness, which may include respiratory compromise. | MONDO: Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene."
+BMGC_DS14723,BMG_DS055943,
+BMGC_DS14724,BMG_DS055944,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). | MONDO: TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)."
+BMGC_DS14725,BMG_DS055945,MONDO: Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.
+BMGC_DS14726,BMG_DS055946,NCI: Familial glucocorticoid deficiency caused by mutation(s) in the NNT gene encoding nicotinamide nucleotide transhydrogenase. | MONDO: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene.
+BMGC_DS14727,BMG_DS055947,MONDO: Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene.
+BMGC_DS14728,BMG_DS055948,"ORPHANET: A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy, peripheral neuropathy, hypotonia, nystagmus, extensor plantar responses, hepatomegaly, and craniofacial dysmorphism (such as progressive microcephaly, epicanthus, long philtrum, and thin upper lip). | MONDO: An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation."
+BMGC_DS14729,BMG_DS055949,"MONDO: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene."
+BMGC_DS14730,BMG_DS055950,
+BMGC_DS14731,BMG_DS055951,MONDO: Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.
+BMGC_DS14732,BMG_DS055952,MONDO: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.
+BMGC_DS14733,BMG_DS055953,MONDO: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.
+BMGC_DS14734,BMG_DS055954,"MONDO: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene."
+BMGC_DS14735,BMG_DS055955,"SNOMEDCT_US: A multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13. | MONDO: A rare multisystemic genetic disorder characterized by a characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness."
+BMGC_DS14736,BMG_DS055956,"MONDO: Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin)."
+BMGC_DS14737,BMG_DS055957,
+BMGC_DS14738,BMG_DS055958,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene.
+BMGC_DS14739,BMG_DS055959,
+BMGC_DS14740,BMG_DS055960,"MONDO: Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene."
+BMGC_DS14741,BMG_DS055961,MONDO: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.
+BMGC_DS14742,BMG_DS055962,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene.
+BMGC_DS14743,BMG_DS055963,MONDO: Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene.
+BMGC_DS14744,BMG_DS055964,"SNOMEDCT_US: A rare genetic renal disease with characteristics of slowly progressive chronic tubulointerstitial nephritis leading to end-stage renal disease before the age of 50 years. The disease manifests mild proteinuria, glucosuria and occasionally urinary sediment abnormalities. Mild extrarenal manifestations such as recurrent upper respiratory tract infections and abnormal liver function tests may be associated. Renal biopsy reveals severe chronic interstitial fibrosis and tubular changes as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged hyperchromatic nuclei. Caused by homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q. | MONDO: Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene."
+BMGC_DS14745,BMG_DS055966,MONDO: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene.
+BMGC_DS14746,BMG_DS055967,MONDO: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.
+BMGC_DS14747,BMG_DS055968,MONDO: Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.
+BMGC_DS14748,BMG_DS055969,MONDO: A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.
+BMGC_DS14749,BMG_DS055970,
+BMGC_DS14750,BMG_DS055971,"MONDO: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene."
+BMGC_DS14751,BMG_DS055972,"ORPHANET: A rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. | MONDO: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain."
+BMGC_DS14752,BMG_DS055973,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.
+BMGC_DS14753,BMG_DS055974,"SNOMEDCT_US: A rare genetic neurodevelopmental disorder with primordial microcephaly, with characteristics of primary microcephaly, moderate to severe intellectual disability and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe. Germline biallelic variants in RTTN (18q22.2) are responsible for the disease. The pattern of inheritance is autosomal recessive. | MONDO: Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported."
+BMGC_DS14754,BMG_DS055977,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene.
+BMGC_DS14755,BMG_DS055978,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene.
+BMGC_DS14756,BMG_DS055979,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene.
+BMGC_DS14757,BMG_DS055980,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TACR3 gene.
+BMGC_DS14758,BMG_DS055981,
+BMGC_DS14759,BMG_DS055982,
+BMGC_DS14760,BMG_DS055983,
+BMGC_DS14761,BMG_DS055984,MONDO: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene.
+BMGC_DS14762,BMG_DS055985,MONDO: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene.
+BMGC_DS14763,BMG_DS055986,"MONDO: Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated."
+BMGC_DS14764,BMG_DS055987,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.
+BMGC_DS14765,BMG_DS055988,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.
+BMGC_DS14766,BMG_DS055989,"NCI: An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4."
+BMGC_DS14767,BMG_DS055990,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome."
+BMGC_DS14768,BMG_DS055991,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene.
+BMGC_DS14769,BMG_DS055992,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome."
+BMGC_DS14770,BMG_DS055993,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2, Peroxisome biogenesis disorder 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease."
+BMGC_DS14771,BMG_DS055994,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome."
+BMGC_DS14772,BMG_DS055995,
+BMGC_DS14773,BMG_DS055996,
+BMGC_DS14774,BMG_DS055997,"MONDO: A rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency)."
+BMGC_DS14775,BMG_DS055998,MONDO: Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.
+BMGC_DS14776,BMG_DS055999,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6A manifests phenotypically as Zellweger syndrome."
+BMGC_DS14777,BMG_DS056000,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease."
+BMGC_DS14778,BMG_DS056001,
+BMGC_DS14779,BMG_DS056002,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease."
+BMGC_DS14780,BMG_DS056003,"ORPHANET: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. | MONDO: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay."
+BMGC_DS14781,BMG_DS056004,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome."
+BMGC_DS14782,BMG_DS056005,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease."
+BMGC_DS14783,BMG_DS056006,"SNOMEDCT_US: A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q."
+BMGC_DS14784,BMG_DS056007,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.
+BMGC_DS14785,BMG_DS056010,
+BMGC_DS14786,BMG_DS056011,
+BMGC_DS14787,BMG_DS056012,
+BMGC_DS14788,BMG_DS056013,
+BMGC_DS14789,BMG_DS056014,
+BMGC_DS14790,BMG_DS056015,"SNOMEDCT_US: A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21. | MONDO: Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress."
+BMGC_DS14791,BMG_DS056016,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene.
+BMGC_DS14792,BMG_DS056017,"NCI: Congenital pure red cell aplasia caused by autosomal dominant mutation(s) in the RPL26 gene, encoding 60S ribosomal protein L26. | MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene."
+BMGC_DS14793,BMG_DS056018,MONDO: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.
+BMGC_DS14794,BMG_DS056019,MONDO: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.
+BMGC_DS14795,BMG_DS056020,
+BMGC_DS14796,BMG_DS056021,"MONDO: A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids."
+BMGC_DS14797,BMG_DS056022,MONDO: Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene.
+BMGC_DS14798,BMG_DS056023,
+BMGC_DS14799,BMG_DS056024,
+BMGC_DS14800,BMG_DS056025,MONDO: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene.
+BMGC_DS14801,BMG_DS056026,MONDO: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene.
+BMGC_DS14802,BMG_DS056027,
+BMGC_DS14803,BMG_DS056028,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene.
+BMGC_DS14804,BMG_DS056029,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene.
+BMGC_DS14805,BMG_DS056030,
+BMGC_DS14806,BMG_DS056031,"NCI: An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the KCNT1 gene, encoding potassium channel subfamily T member 1. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene."
+BMGC_DS14807,BMG_DS056032,"SNOMEDCT_US: A novel very rare form of PCH with clinical manifestations of progressive microcephaly, feeding difficulties and severe developmental delay. Although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures are demonstrated. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. | MONDO: A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum."
+BMGC_DS14808,BMG_DS056033,"SNOMEDCT_US: A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. | MONDO: Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia."
+BMGC_DS14809,BMG_DS056034,NCI: Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.
+BMGC_DS14810,BMG_DS056035,"SNOMEDCT_US: A novel very rare form of pontocerebellar hypoplasia with unknown aetiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apnoeic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. | MONDO: Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype."
+BMGC_DS14811,BMG_DS056036,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.
+BMGC_DS14812,BMG_DS056037,
+BMGC_DS14813,BMG_DS056038,"SNOMEDCT_US: Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioural problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance. | MONDO: Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities. | MeSH: A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4."
+BMGC_DS14814,BMG_DS056039,"SNOMEDCT_US: Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia with characteristics of congenital isolated preauricular and/or cheek blister scar-like lesions. Affected FFDD4 patients typically do not present with extra-cutaneous manifestations, although in a small number of cases, a hair collar sign (circumscription of the cutaneous lesion with terminal hairs), polyps on the buccal mucosa with a similar distribution pattern, and developmental delay have been reported. An autosomal recessive trait. | MONDO: Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions. | MeSH: A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4."
+BMGC_DS14815,BMG_DS056040,MONDO: Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.
+BMGC_DS14816,BMG_DS056041,MONDO: Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.
+BMGC_DS14817,BMG_DS056042,MONDO: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.
+BMGC_DS14818,BMG_DS056043,
+BMGC_DS14819,BMG_DS056044,
+BMGC_DS14820,BMG_DS056045,"MONDO: Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation."
+BMGC_DS14821,BMG_DS056046,"NCI: An autosomal dominant condition caused by mutation(s) in the PACS1 gene, encoding phosphofurin acidic cluster sorting protein 1. It is characterized by intellectual developmental delay, craniofacial abnormalities, as well as other variable congenital abnormalities. | MONDO: Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed."
+BMGC_DS14822,BMG_DS056047,"HPO: An elevated concentration of phosphohydroxylysine in the urine. [https://orcid.org/0000-0002-0736-9199, PMID:23242558]"
+BMGC_DS14823,BMG_DS056048,"MONDO: An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1."
+BMGC_DS14824,BMG_DS056049,MONDO: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.
+BMGC_DS14825,BMG_DS056050,MONDO: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.
+BMGC_DS14826,BMG_DS056051,"SNOMEDCT_US: A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment."
+BMGC_DS14827,BMG_DS056052,
+BMGC_DS14828,BMG_DS056053,
+BMGC_DS14829,BMG_DS056054,"SNOMEDCT_US: A rare genetic isolated dystonia with characteristics of a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Caused by heterozygous mutation in the ANO3 gene on chromosome 11p14. | MONDO: Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene."
+BMGC_DS14830,BMG_DS056055,"MONDO: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene."
+BMGC_DS14831,BMG_DS056056,
+BMGC_DS14832,BMG_DS056057,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene.
+BMGC_DS14833,BMG_DS056058,MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene.
+BMGC_DS14834,BMG_DS056059,"SNOMEDCT_US: A rare subtype of distal arthrogryposis syndrome with characteristics of arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (for example ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, clubfeet, scoliosis and short stature. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q36. | MONDO: Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature."
+BMGC_DS14835,BMG_DS056060,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.
+BMGC_DS14836,BMG_DS056061,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis syndrome with characteristics of severe intellectual disability, distinct dysmorphic facial features (including triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism to a milder phenotype with less severe growth restriction. Other reported features include skeletal findings (for example scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and anxiety. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the LARP7 gene on chromosome 4q25. | MONDO: Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety."
+BMGC_DS14837,BMG_DS056062,MONDO: Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.
+BMGC_DS14838,BMG_DS056063,"NCI: An autosomal dominant neurodevelopmental syndrome caused by mutation(s) in the GATAD2B gene, encoding transcriptional repressor p66-beta. It is characterized by global developmental delay and intellectual impairment. | MONDO: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3."
+BMGC_DS14839,BMG_DS056064,"NCI: An autosomal dominant condition caused by mutation(s) in the CTNNB1 gene, encoding catenin beta-1. It is characterized by severe intellectual disability, progressive spastic diplegia, visual impairment, and dysmorphic craniofacial features. | MONDO: Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person."
+BMGC_DS14840,BMG_DS056065,"NCI: A form of Alzheimer's disease associated with mutation(s) in the TREM2 gene, encoding triggering receptor expressed on myeloid cells 2. | MONDO: An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2."
+BMGC_DS14841,BMG_DS056066,MONDO: Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.
+BMGC_DS14842,BMG_DS056067,MONDO: Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.
+BMGC_DS14843,BMG_DS056068,"MONDO: Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported."
+BMGC_DS14844,BMG_DS056069,"NCI: A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the SNX10 gene, encoding sorting nexin-10. | MONDO: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene."
+BMGC_DS14845,BMG_DS056070,
+BMGC_DS14846,BMG_DS056071,"NCI: An autosomal dominant sub-type of left ventricular noncompaction syndrome caused by heterozygous mutation(s) of the MIB1 gene, encoding E3 ubiquitin-protein ligase MIB1. | MONDO: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene."
+BMGC_DS14847,BMG_DS056072,"MONDO: Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur."
+BMGC_DS14848,BMG_DS056073,MONDO: Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.
+BMGC_DS14849,BMG_DS056074,MONDO: Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene.
+BMGC_DS14850,BMG_DS056075,MONDO: Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene.
+BMGC_DS14851,BMG_DS056076,MONDO: Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene.
+BMGC_DS14852,BMG_DS056077,MONDO: Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.
+BMGC_DS14853,BMG_DS056078,MONDO: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.
+BMGC_DS14854,BMG_DS056079,"ORPHANET: A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed. | MONDO: Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene."
+BMGC_DS14855,BMG_DS056080,
+BMGC_DS14856,BMG_DS056082,
+BMGC_DS14857,BMG_DS056083,
+BMGC_DS14858,BMG_DS056084,"MONDO: A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyzes show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer."
+BMGC_DS14859,BMG_DS056086,"MONDO: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene."
+BMGC_DS14860,BMG_DS056087,
+BMGC_DS14861,BMG_DS056088,"ORPHANET: A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. | MONDO: A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described."
+BMGC_DS14862,BMG_DS056089,
+BMGC_DS14863,BMG_DS056091,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.
+BMGC_DS14864,BMG_DS056092,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene.
+BMGC_DS14865,BMG_DS056093,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene.
+BMGC_DS14866,BMG_DS056094,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.
+BMGC_DS14867,BMG_DS056095,
+BMGC_DS14868,BMG_DS056096,MONDO: A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.
+BMGC_DS14869,BMG_DS056097,"SNOMEDCT_US: A rare genetic congenital limb malformation syndrome with characteristics of a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of fifth fingers, mesoaxial camptodactyly of toes and ulnar deviation of third fingers. Additional variable manifestations include bifid toes and severe syndactyly or synpolydactyly involving all digits of hands and feet."
+BMGC_DS14870,BMG_DS056098,"MONDO: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene."
+BMGC_DS14871,BMG_DS056099,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.
+BMGC_DS14872,BMG_DS056100,"NCI: Dyskeratosis congenita caused by mutation(s) in the RTEL1 gene, encoding regulator of telomere elongation helicase 1. | MONDO: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33."
+BMGC_DS14873,BMG_DS056101,"MONDO: Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures."
+BMGC_DS14874,BMG_DS056102,"MONDO: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene."
+BMGC_DS14875,BMG_DS056104,"ORPHANET: A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated."
+BMGC_DS14876,BMG_DS056105,"MONDO: Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections."
+BMGC_DS14877,BMG_DS056106,
+BMGC_DS14878,BMG_DS056107,MONDO: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene.
+BMGC_DS14879,BMG_DS056108,"NCI: An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs."
+BMGC_DS14880,BMG_DS056109,MONDO: Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.
+BMGC_DS14881,BMG_DS056111,"SNOMEDCT_US: A rare multiple congenital anomalies syndrome with characteristics of distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion and small, low-set, posteriorly rotated ears), cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. | MONDO: A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears."
+BMGC_DS14882,BMG_DS056113,NCI: A rare congenital heart anomaly in which there is coexistence of tetralogy of Fallot and complete atrioventricular septal defect. The latter is characterized by defects in the atrial and ventricular septa and a common atrioventricular valve.
+BMGC_DS14883,BMG_DS056116,NCI: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart.
+BMGC_DS14884,BMG_DS056117,NCI: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart. | MONDO: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.
+BMGC_DS14885,BMG_DS056119,NCI: A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. | MONDO: A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.
+BMGC_DS14886,BMG_DS056120,NCI: A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma. | MONDO: A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.
+BMGC_DS14887,BMG_DS056122,"NCI: A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. | MONDO: A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis."
+BMGC_DS14888,BMG_DS056123,"NCI: A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. | MONDO: A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype."
+BMGC_DS14889,BMG_DS056125,NCI: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.
+BMGC_DS14890,BMG_DS056127,NCI: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.
+BMGC_DS14891,BMG_DS056128,"MONDO: Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. | MeSH: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality."
+BMGC_DS14892,BMG_DS056129,"MeSH: Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY)."
+BMGC_DS14893,BMG_DS056153,"MeSH: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment."
+BMGC_DS14894,BMG_DS056154,MeSH: An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis.
+BMGC_DS14895,BMG_DS056155,"NCI: A group of conditions with overlapping signs and symptoms. It includes Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. | MeSH: An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis."
+BMGC_DS14896,BMG_DS056156,"MeSH: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis."
+BMGC_DS14897,BMG_DS056157,"SNOMEDCT_US: An acute and severe skin disease with clinical and histological features of destruction and detachment of the skin epithelium and mucous membranes. Onset may occur at any age, but the risk increases after 40 years. Three subforms have been described according to the percentage of the body surface area affected: Stevens-Johnson syndrome (less than 10%), Lyell syndrome (greater than 30%) and an intermediate form (10-29%). The initial manifestations are nonspecific: a seemingly banal rash, fever, and a burning sensation involving the eyes, mouth and genitalia. The rash rapidly progresses to become vesicular and bullous on the face and body. High fever is a constant feature. Two thirds of cases are triggered by a drug allergy. In rare cases, the disease is associated with infections or bone marrow transplantation. The remaining 25-30% of cases are classed as idiopathic. The prognosis for patients with extensive forms is poor. | MeSH: Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis."
+BMGC_DS14898,BMG_DS056164,"MONDO: A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. | MeSH: An umbrella term used to describe a pattern of disabilities and abnormalities that result from fetal exposure to ETHANOL during pregnancy. It encompasses a phenotypic range that can vary greatly between individuals, but reliably includes one or more of the following: characteristic facial dysmorphism, FETAL GROWTH RETARDATION, central nervous system abnormalities, cognitive and/or behavioral dysfunction, BIRTH DEFECTS. The level of maternal alcohol consumption does not necessarily correlate directly with disease severity."
+BMGC_DS14899,BMG_DS056165,"MeSH: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality."
+BMGC_DS14900,BMG_DS056166,"MeSH: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)"
+BMGC_DS14901,BMG_DS056167,"MeSH: Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON."
+BMGC_DS14902,BMG_DS056168,"MeSH: A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern."
+BMGC_DS14903,BMG_DS056207,
+BMGC_DS14904,BMG_DS056210,
+BMGC_DS14905,BMG_DS056232,"MeSH: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"
+BMGC_DS14906,BMG_DS056240,"MeSH: Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS."
+BMGC_DS14907,BMG_DS056250,
+BMGC_DS14908,BMG_DS056286,
+BMGC_DS14909,BMG_DS056363,
+BMGC_DS14910,BMG_DS056364,"SNOMEDCT_US: A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalised erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterised by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. | MONDO: Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss."
+BMGC_DS14911,BMG_DS056367,"HPO: Inherited progressive cone degeneration. [] | MeSH: A general term which describes a group of rare eye disorders that affect the cone cells of the RETINA. Cone dystrophy can cause a variety of symptoms including decreased visual clarity or acuity when looking straight ahead (central vision), a reduced ability to see colors, and an increased sensitivity to light (PHOTOPHOBIA)."
+BMGC_DS14912,BMG_DS056368,HPO: A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS14913,BMG_DS056369,"MONDO: Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia. | MeSH: Excessive or inappropriate LACTATION in females or males, and not necessarily related to PREGNANCY. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is HYPERPROLACTINEMIA."
+BMGC_DS14914,BMG_DS056370,NCI: Cardiovascular disease resulting from arteriosclerosis.
+BMGC_DS14915,BMG_DS056372,
+BMGC_DS14916,BMG_DS056375,"ORPHANET: A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant."
+BMGC_DS14917,BMG_DS056382,"SNOMEDCT_US: A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. | MONDO: A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence."
+BMGC_DS14918,BMG_DS056387,MONDO: A wart caused by human papillomavirus. It can appear anywhere on the skin. | MeSH: Benign epidermal proliferations or tumors; some are viral in origin.
+BMGC_DS14919,BMG_DS056391,"NCI: A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris. | MONDO: A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris."
+BMGC_DS14920,BMG_DS056392,
+BMGC_DS14921,BMG_DS056393,
+BMGC_DS14922,BMG_DS056401,
+BMGC_DS14923,BMG_DS056402,MONDO: Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.
+BMGC_DS14924,BMG_DS056403,"SNOMEDCT_US: A skeletal dysplasia with characteristics of short limbs, dysmorphic facies and diagnostic radiographic findings. Less than 25 affected patients have been reported. Atelosteogenesis III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties | MONDO: A skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings."
+BMGC_DS14925,BMG_DS056404,"ORPHANET: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. | MONDO: Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus."
+BMGC_DS14926,BMG_DS056406,"NCI: Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension."
+BMGC_DS14927,BMG_DS056407,
+BMGC_DS14928,BMG_DS056411,"MONDO: Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones."
+BMGC_DS14929,BMG_DS056421,
+BMGC_DS14930,BMG_DS056424,ORPHANET: A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several &lt;i&lt;SYNE1&lt;/i&gt; gene mutations.
+BMGC_DS14931,BMG_DS056429,"NCI: A rare, locally aggressive fibroblastic neoplasm typically affecting young patients (predominantly boys). It manifests with painless nodules in the dermis or subcutaneous tissues. Morphologically, it contains giant cells and wide vessel-like spaces. This tumor can recur but metastases have not been reported. | MONDO: Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22)."
+BMGC_DS14932,BMG_DS056431,"MONDO: A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. | MONDO: Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). | MeSH: Virus diseases caused by the CORONAVIRUS genus. Some specifics include transmissible enteritis of turkeys (ENTERITIS, TRANSMISSIBLE, OF TURKEYS); FELINE INFECTIOUS PERITONITIS; and transmissible gastroenteritis of swine (GASTROENTERITIS, TRANSMISSIBLE, OF SWINE)."
+BMGC_DS14933,BMG_DS056432,"MONDO: Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes."
+BMGC_DS14934,BMG_DS056436,"SNOMEDCT_US: A subtype of Charcot-Marie-Tooth type 4 with characteristics of childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities and the typical Charcot-Marie-Tooth phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). There is evidence this disease is caused by homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. | MONDO: Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)."
+BMGC_DS14935,BMG_DS056440,"NCI: A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. | MONDO: A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine."
+BMGC_DS14936,BMG_DS056480,ORPHANET: A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. | MONDO: A seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
+BMGC_DS14937,BMG_DS056495,
+BMGC_DS14938,BMG_DS056499,
+BMGC_DS14939,BMG_DS056505,"ORPHANET: Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery."
+BMGC_DS14940,BMG_DS056557,
+BMGC_DS14941,BMG_DS056670,
+BMGC_DS14942,BMG_DS056671,ORPHANET: A disorder that constitutes a rare subgroup of rare pulmonary hypertension characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. | MONDO: A rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction.
+BMGC_DS14943,BMG_DS056708,
+BMGC_DS14944,BMG_DS056715,"ORPHANET: A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints. | MONDO: The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males."
+BMGC_DS14945,BMG_DS056721,"ORPHANET: Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. | MONDO: Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis."
+BMGC_DS14946,BMG_DS056723,
+BMGC_DS14947,BMG_DS056725,
+BMGC_DS14948,BMG_DS056726,"MONDO: Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure."
+BMGC_DS14949,BMG_DS056727,
+BMGC_DS14950,BMG_DS056728,"SNOMEDCT_US: A form of hereditary spastic paraplegia with onset usually in adulthood of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia."
+BMGC_DS14951,BMG_DS056730,
+BMGC_DS14952,BMG_DS056731,"SNOMEDCT_US: A chromosomal disorder with distinctive clinical findings characterised by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behaviour. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. | MONDO: Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end. Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental delay; mild to severe intellectual disability; delayed or absent speech; behavioral abnormalities; and seizures. Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person."
+BMGC_DS14953,BMG_DS056732,
+BMGC_DS14954,BMG_DS056734,
+BMGC_DS14955,BMG_DS056735,"NCI: A rapidly progressive neurodegenerative disorder, caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene, that presents in adulthood with a variety of neuropsychiatric and motor disturbances. Hallmark features include diffuse myelin loss and axonal destruction, neuroaxonal spheroids, and pigmented macrophages and other glia."
+BMGC_DS14956,BMG_DS056737,
+BMGC_DS14957,BMG_DS056738,
+BMGC_DS14958,BMG_DS056740,"SNOMEDCT_US: Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development with features of reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. It is more common in specific populations, e.g. northern Pakistanis. Consanguinity appears to play a role in incidence. Patients have a reduction in head circumference at birth of at least 2 standard deviations below ethnically matched, age- and sex-related mean values. Caused by mutations in MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, STIL, CEP63, CEP135 , CASC5 and PHC1. These mutations appear to lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis. Inheritance is autosomal recessive. | MONDO: Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment."
+BMGC_DS14959,BMG_DS056742,"NCI: An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles. | MONDO: An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles."
+BMGC_DS14960,BMG_DS056743,"SNOMEDCT_US: Syndrome associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. | MONDO: Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children."
+BMGC_DS14961,BMG_DS056745,
+BMGC_DS14962,BMG_DS056746,
+BMGC_DS14963,BMG_DS056750,"NCI: An inherited condition caused by mutation(s) in the HADHA gene, encoding trifunctional enzyme subunit alpha, mitochondrial. It is characterized by hypoglycemia, hypotonia, neuropathy, cardiomyopathy, pigmentary retinopathy and may be associated with sudden death. | MONDO: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy."
+BMGC_DS14964,BMG_DS056754,"NCI: A heritable form of hyperaldosteronism. | MONDO: Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol."
+BMGC_DS14965,BMG_DS056755,
+BMGC_DS14966,BMG_DS056757,
+BMGC_DS14967,BMG_DS056758,"SNOMEDCT_US: Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The most frequently reported distal duplications involve the Xq28 segment and yield a phenotype including distinctive facial features, major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and susceptibility to infections. Xq duplications may be caused either by an intrachromosomal duplication or by an unbalanced X/Y or X/autosome translocation."
+BMGC_DS14968,BMG_DS056759,
+BMGC_DS14969,BMG_DS056760,
+BMGC_DS14970,BMG_DS056761,
+BMGC_DS14971,BMG_DS056762,
+BMGC_DS14972,BMG_DS056772,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.
+BMGC_DS14973,BMG_DS056773,"MONDO: Any condition related to a disturbance between proper intake and utilization of nourishment. | MeSH: Disorders caused by nutritional imbalance, either overnutrition or undernutrition."
+BMGC_DS14974,BMG_DS056776,"NCI: A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. | MONDO: A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma."
+BMGC_DS14975,BMG_DS056777,"ORPHANET: A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed. | MONDO: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases."
+BMGC_DS14976,BMG_DS056779,
+BMGC_DS14977,BMG_DS056780,"MONDO: Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. | MeSH: A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY."
+BMGC_DS14978,BMG_DS056783,NCI: Overproduction of thyroid hormone due to a disorder originating within the thyroid gland. | MeSH: Hypersecretion of THYROID HORMONES from the THYROID GLAND. Elevated levels of thyroid hormones increase BASAL METABOLIC RATE.
+BMGC_DS14979,BMG_DS056786,NCI: An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. | MONDO: An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. | MeSH: Infection of the lung often accompanied by inflammation.
+BMGC_DS14980,BMG_DS056787,MONDO: A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma. | MeSH: Tumors or cancer of the THYMUS GLAND.
+BMGC_DS14981,BMG_DS056791,"MONDO: A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003 | MeSH: Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)"
+BMGC_DS14982,BMG_DS056793,MONDO: A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
+BMGC_DS14983,BMG_DS056794,"MONDO: A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group."
+BMGC_DS14984,BMG_DS056795,
+BMGC_DS14985,BMG_DS056796,NCI: Childhood arthritis typically associated with psoriasis. | MONDO: Childhood arthritis typically associated with psoriasis.
+BMGC_DS14986,BMG_DS056797,
+BMGC_DS14987,BMG_DS056799,MeSH: Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease.
+BMGC_DS14988,BMG_DS056800,NCI: A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth. | MONDO: A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.
+BMGC_DS14989,BMG_DS056801,MONDO: Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.
+BMGC_DS14990,BMG_DS056802,"SNOMEDCT_US: An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. | MONDO: An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function."
+BMGC_DS14991,BMG_DS056803,
+BMGC_DS14992,BMG_DS056804,
+BMGC_DS14993,BMG_DS056805,"NCI: An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase."
+BMGC_DS14994,BMG_DS056806,"MONDO: A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years."
+BMGC_DS14995,BMG_DS056807,MONDO: Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene.
+BMGC_DS14996,BMG_DS056808,
+BMGC_DS14997,BMG_DS056809,MONDO: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene.
+BMGC_DS14998,BMG_DS056810,MONDO: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.
+BMGC_DS14999,BMG_DS056811,
+BMGC_DS15000,BMG_DS056812,"ORPHANET: A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed."
+BMGC_DS15001,BMG_DS056813,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.
+BMGC_DS15002,BMG_DS056814,MONDO: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.
+BMGC_DS15003,BMG_DS056815,MONDO: Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.
+BMGC_DS15004,BMG_DS056816,
+BMGC_DS15005,BMG_DS056817,MONDO: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.
+BMGC_DS15006,BMG_DS056818,MONDO: Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.
+BMGC_DS15007,BMG_DS056819,
+BMGC_DS15008,BMG_DS056820,"MONDO: A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering."
+BMGC_DS15009,BMG_DS056821,"MONDO: Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH)"
+BMGC_DS15010,BMG_DS056823,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene.
+BMGC_DS15011,BMG_DS056824,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.
+BMGC_DS15012,BMG_DS056825,MONDO: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.
+BMGC_DS15013,BMG_DS056826,MONDO: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.
+BMGC_DS15014,BMG_DS056827,"ORPHANET: A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance."
+BMGC_DS15015,BMG_DS056828,MONDO: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.
+BMGC_DS15016,BMG_DS056829,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene.
+BMGC_DS15017,BMG_DS056836,MONDO: A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
+BMGC_DS15018,BMG_DS056837,"SNOMEDCT_US: A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Caused by mutations in the SLC24A5 gene (15q21.1). | MONDO: A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity."
+BMGC_DS15019,BMG_DS056838,MONDO: A cataract that has material basis in variation in the region 2pter-p24.
+BMGC_DS15020,BMG_DS056839,
+BMGC_DS15021,BMG_DS056840,MONDO: A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.
+BMGC_DS15022,BMG_DS056841,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.
+BMGC_DS15023,BMG_DS056842,"MONDO: Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant."
+BMGC_DS15024,BMG_DS056843,MONDO: Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene.
+BMGC_DS15025,BMG_DS056844,
+BMGC_DS15026,BMG_DS056851,
+BMGC_DS15027,BMG_DS056854,MONDO: Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene.
+BMGC_DS15028,BMG_DS056858,MONDO: Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.
+BMGC_DS15029,BMG_DS056859,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.
+BMGC_DS15030,BMG_DS056863,"MONDO: A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991."
+BMGC_DS15031,BMG_DS056865,"MONDO: High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations."
+BMGC_DS15032,BMG_DS056872,
+BMGC_DS15033,BMG_DS056874,
+BMGC_DS15034,BMG_DS056875,
+BMGC_DS15035,BMG_DS056876,"SNOMEDCT_US: A rare genetic neurometabolic disease with characteristics of severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (for example blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed central nervous system myelination and ventriculomegaly). | MONDO: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy)."
+BMGC_DS15036,BMG_DS056878,MONDO: Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene.
+BMGC_DS15037,BMG_DS056879,"SNOMEDCT_US: A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11. | MONDO: SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)."
+BMGC_DS15038,BMG_DS056880,"SNOMEDCT_US: A rare genetic principally axonal peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, pan modal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). | MONDO: X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)."
+BMGC_DS15039,BMG_DS056882,MONDO: An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema.
+BMGC_DS15040,BMG_DS056883,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. There is evidence this disease is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. | MONDO: X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign."
+BMGC_DS15041,BMG_DS056884,"MONDO: X-linked Mental retardation Cantagrel type is characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism."
+BMGC_DS15042,BMG_DS056885,MONDO: Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.
+BMGC_DS15043,BMG_DS056886,"MONDO: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus."
+BMGC_DS15044,BMG_DS056887,
+BMGC_DS15045,BMG_DS056888,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene.
+BMGC_DS15046,BMG_DS056889,
+BMGC_DS15047,BMG_DS056891,
+BMGC_DS15048,BMG_DS056892,
+BMGC_DS15049,BMG_DS056893,"MONDO: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia."
+BMGC_DS15050,BMG_DS056896,MONDO: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene.
+BMGC_DS15051,BMG_DS056898,"NCI: An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the MATR3 gene, encoding matrin-3. | MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene."
+BMGC_DS15052,BMG_DS056899,
+BMGC_DS15053,BMG_DS056900,
+BMGC_DS15054,BMG_DS056904,
+BMGC_DS15055,BMG_DS056905,
+BMGC_DS15056,BMG_DS056907,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.
+BMGC_DS15057,BMG_DS056908,
+BMGC_DS15058,BMG_DS056910,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.
+BMGC_DS15059,BMG_DS056911,MONDO: A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
+BMGC_DS15060,BMG_DS056912,
+BMGC_DS15061,BMG_DS056913,
+BMGC_DS15062,BMG_DS056915,MONDO: 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
+BMGC_DS15063,BMG_DS056916,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.
+BMGC_DS15064,BMG_DS056917,MONDO: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.
+BMGC_DS15065,BMG_DS056918,MONDO: Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.
+BMGC_DS15066,BMG_DS056919,
+BMGC_DS15067,BMG_DS056920,
+BMGC_DS15068,BMG_DS056921,MONDO: A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).
+BMGC_DS15069,BMG_DS056923,"ORPHANET: A subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence."
+BMGC_DS15070,BMG_DS056926,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.
+BMGC_DS15071,BMG_DS056928,"SNOMEDCT_US: A form of oculocutaneous albinism with characteristics of skin and hair hypopigmentation, nystagmus and iris transillumination. The prevalence is unknown. It has been discovered in several Faroese families and one patient of Lithuanian origin. Patients have a light skin pigmentation that is reported as lighter than their relatives. Caused by mutation in the C10orf11 gene (10q22.3) encoding a 198 amino acid protein. Currently, little is known about the biological function of this gene in humans and its role in this disease pathogenesis. | MONDO: Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination."
+BMGC_DS15072,BMG_DS056929,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene.
+BMGC_DS15073,BMG_DS056930,
+BMGC_DS15074,BMG_DS056931,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.
+BMGC_DS15075,BMG_DS056932,MONDO: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene.
+BMGC_DS15076,BMG_DS056933,
+BMGC_DS15077,BMG_DS056934,
+BMGC_DS15078,BMG_DS056935,MONDO: Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.
+BMGC_DS15079,BMG_DS056936,MONDO: A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2.
+BMGC_DS15080,BMG_DS056937,"MONDO: STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels."
+BMGC_DS15081,BMG_DS056939,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.
+BMGC_DS15082,BMG_DS056940,"ORPHANET: A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axilliary fat and absence of lower limb and femorogluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis."
+BMGC_DS15083,BMG_DS056941,MONDO: Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene.
+BMGC_DS15084,BMG_DS056942,
+BMGC_DS15085,BMG_DS056943,"MONDO: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene."
+BMGC_DS15086,BMG_DS056944,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene.
+BMGC_DS15087,BMG_DS056945,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.
+BMGC_DS15088,BMG_DS056946,MONDO: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.
+BMGC_DS15089,BMG_DS056947,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene.
+BMGC_DS15090,BMG_DS056948,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene.
+BMGC_DS15091,BMG_DS056949,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene.
+BMGC_DS15092,BMG_DS056950,MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.
+BMGC_DS15093,BMG_DS056951,"NCI: A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities."
+BMGC_DS15094,BMG_DS056952,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene.
+BMGC_DS15095,BMG_DS056953,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene.
+BMGC_DS15096,BMG_DS056954,MONDO: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.
+BMGC_DS15097,BMG_DS056955,MONDO: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.
+BMGC_DS15098,BMG_DS056956,MONDO: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.
+BMGC_DS15099,BMG_DS056957,MONDO: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.
+BMGC_DS15100,BMG_DS056958,"NCI: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the VPS45 gene, encoding vacuolar protein sorting-associated protein 45. It is characterized by neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis."
+BMGC_DS15101,BMG_DS056960,
+BMGC_DS15102,BMG_DS056961,"NCI: A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the NOTCH3 gene, encoding neurogenic locus notch homolog protein 3. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. Soft tissue lesions may regress spontaneously whereas visceral lesions are associated with high morbidity and mortality. | MONDO: Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene."
+BMGC_DS15103,BMG_DS056962,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.
+BMGC_DS15104,BMG_DS056963,MONDO: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.
+BMGC_DS15105,BMG_DS056967,MONDO: Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.
+BMGC_DS15106,BMG_DS056968,MONDO: Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.
+BMGC_DS15107,BMG_DS056969,MONDO: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.
+BMGC_DS15108,BMG_DS056970,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14."
+BMGC_DS15109,BMG_DS056971,"ORPHANET: A rare neurometabolic disease, due to a lipoic acid biosynthesis defect, with a highly variable phenotype, typically characterized by early-onset acute or subacute developmental delay or regression frequently associated with feeding difficulties. Clinical severity is variable and may range from mild cases which present a later onset with slow neurological deterioration and general improvement over time to severe cases with clinical signs since birth and leading to early death. Associated manifestations include hypotonia, vision loss, respiratory failure, seizures, and intellectual disability. Brain magnetic resonance imaging frequently shows cavitating leukoencephalopathy with lesions in the periventricular/central white matter and parieto-occiîtal lobes. | MONDO: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene."
+BMGC_DS15110,BMG_DS056972,"MONDO: A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."
+BMGC_DS15111,BMG_DS056974,MONDO: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene.
+BMGC_DS15112,BMG_DS056975,MONDO: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.
+BMGC_DS15113,BMG_DS056976,MONDO: Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.
+BMGC_DS15114,BMG_DS056977,"NCI: An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles. | MONDO: An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles."
+BMGC_DS15115,BMG_DS056978,"ORPHANET: A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in &lt;i&gt;B3GALT6&lt;/i&gt; and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. | MONDO: Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene."
+BMGC_DS15116,BMG_DS056979,
+BMGC_DS15117,BMG_DS056980,
+BMGC_DS15118,BMG_DS056981,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the RIT1 gene, encoding GTP-binding protein Rit1. | MONDO: Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene."
+BMGC_DS15119,BMG_DS056982,MONDO: An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
+BMGC_DS15120,BMG_DS056983,"MONDO: Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present."
+BMGC_DS15121,BMG_DS056987,"NCI: An autosomal dominant condition caused by mutation(s) in the CHD2 gene, encoding chromodomain-helicase-DNA-binding protein 2. It is characterized by childhood-onset severe seizures and is associated with a poor prognosis. | MONDO: An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability."
+BMGC_DS15122,BMG_DS056988,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.
+BMGC_DS15123,BMG_DS056989,
+BMGC_DS15124,BMG_DS056990,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.
+BMGC_DS15125,BMG_DS056991,"MONDO: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy."
+BMGC_DS15126,BMG_DS056992,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene.
+BMGC_DS15127,BMG_DS056993,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.
+BMGC_DS15128,BMG_DS056994,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.
+BMGC_DS15129,BMG_DS056995,"MONDO: A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta."
+BMGC_DS15130,BMG_DS056997,"MONDO: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life."
+BMGC_DS15131,BMG_DS056998,MONDO: A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.
+BMGC_DS15132,BMG_DS057001,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene.
+BMGC_DS15133,BMG_DS057002,"MONDO: A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase."
+BMGC_DS15134,BMG_DS057003,MONDO: Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.
+BMGC_DS15135,BMG_DS057004,"MONDO: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene."
+BMGC_DS15136,BMG_DS057005,"ORPHANET: A rare T-B+ severe combined immunodeficiency characterized by profoundly decreased levels of T-cells, normal B-cells, and low immunoglobulin levels. The thymus is present. Patients typically become symptomatic in infancy or early childhood with recurrent infections. Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative syndrome/lymphoma and mucocutaneous-immunodeficiency syndrome have been reported in association. Some patients may show developmental delay, neurocognitive impairment, and behavioral dysfunction (in particular attention deficit-hyperactivity disorder)."
+BMGC_DS15137,BMG_DS057006,MONDO: Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.
+BMGC_DS15138,BMG_DS057007,MONDO: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene.
+BMGC_DS15139,BMG_DS057008,MONDO: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.
+BMGC_DS15140,BMG_DS057009,MONDO: Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.
+BMGC_DS15141,BMG_DS057010,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.
+BMGC_DS15142,BMG_DS057011,MONDO: Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.
+BMGC_DS15143,BMG_DS057012,"MONDO: An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy."
+BMGC_DS15144,BMG_DS057013,"MONDO: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene."
+BMGC_DS15145,BMG_DS057014,
+BMGC_DS15146,BMG_DS057015,MONDO: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene.
+BMGC_DS15147,BMG_DS057016,MONDO: Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene.
+BMGC_DS15148,BMG_DS057017,
+BMGC_DS15149,BMG_DS057018,
+BMGC_DS15150,BMG_DS057019,MONDO: A communication disorder that involves the processing of linguistic information.
+BMGC_DS15151,BMG_DS057020,"MONDO: 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present."
+BMGC_DS15152,BMG_DS057021,MONDO: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.
+BMGC_DS15153,BMG_DS057022,MONDO: Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.
+BMGC_DS15154,BMG_DS057023,"NCI: An autosomal dominant subtype of age-related macular degeneration associated with mutation(s) in the CFI gene, encoding complement factor I. | MONDO: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene."
+BMGC_DS15155,BMG_DS057024,"SNOMEDCT_US: A rare genetic mitochondrial disorder due to a defect in mitochondrial protein synthesis with characteristics of infantile-onset severe hypertrophic cardiomyopathy (that occasionally progresses to dilated cardiomyopathy) associated with failure to thrive, global development delay, muscular hypotonia, elevated serum lactate and complex I deficiency in skeletal muscle biopsy. Intellectual disability, pericardial effusion and a mild cardiac phenotype have been also reported. Caused by homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene."
+BMGC_DS15156,BMG_DS057025,MONDO: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.
+BMGC_DS15157,BMG_DS057026,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.
+BMGC_DS15158,BMG_DS057027,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.
+BMGC_DS15159,BMG_DS057028,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.
+BMGC_DS15160,BMG_DS057030,
+BMGC_DS15161,BMG_DS057031,"MONDO: Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections."
+BMGC_DS15162,BMG_DS057032,"SNOMEDCT_US: A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern. | MONDO: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene."
+BMGC_DS15163,BMG_DS057033,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.
+BMGC_DS15164,BMG_DS057034,"NCI: An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects. | MONDO: An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects."
+BMGC_DS15165,BMG_DS057036,
+BMGC_DS15166,BMG_DS057037,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.
+BMGC_DS15167,BMG_DS057038,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.
+BMGC_DS15168,BMG_DS057039,
+BMGC_DS15169,BMG_DS057040,"NCI: An autosomal recessive condition caused by mutation(s) in the NBAS gene, encoding neuroblastoma-amplified sequence. It is characterized by recurrent episodes of acute liver failure that begin in infancy. | MONDO: Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene."
+BMGC_DS15170,BMG_DS057041,MONDO: An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21.
+BMGC_DS15171,BMG_DS057042,"SNOMEDCT_US: A rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. | MONDO: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene."
+BMGC_DS15172,BMG_DS057043,"MONDO: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis."
+BMGC_DS15173,BMG_DS057044,
+BMGC_DS15174,BMG_DS057045,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.
+BMGC_DS15175,BMG_DS057046,
+BMGC_DS15176,BMG_DS057047,MONDO: An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
+BMGC_DS15177,BMG_DS057048,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.
+BMGC_DS15178,BMG_DS057049,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.
+BMGC_DS15179,BMG_DS057050,MONDO: Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.
+BMGC_DS15180,BMG_DS057051,"SNOMEDCT_US: A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects."
+BMGC_DS15181,BMG_DS057054,"MONDO: Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior."
+BMGC_DS15182,BMG_DS057055,"MONDO: A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed."
+BMGC_DS15183,BMG_DS057057,"ORPHANET: A rare, genetic, epidermal disease characterized by punctate keratoderma on palms and soles associated with irregularly shaped hypopigmented macules (typically localized on the extremities). Ectopic calcification (e.g. early-onset calcific tendinopathy, calcinosis cutis) and pachyonychia may be occasionally associated."
+BMGC_DS15184,BMG_DS057063,MONDO: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene.
+BMGC_DS15185,BMG_DS057064,"MONDO: Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome."
+BMGC_DS15186,BMG_DS057065,"NCI: An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the DNAJC6 gene, encoding putative tyrosine-protein phosphatase auxilin. It is characterized by an onset of Parkinsonism in the first or second decade. Mutations(s) in DNAJC6, are also causative in PARK19B. | MONDO: Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene."
+BMGC_DS15187,BMG_DS057066,MONDO: Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene.
+BMGC_DS15188,BMG_DS057067,"NCI: An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the SYNJ1 gene, encoding synaptojanin-1. | MONDO: Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene."
+BMGC_DS15189,BMG_DS057069,
+BMGC_DS15190,BMG_DS057070,"MONDO: Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene."
+BMGC_DS15191,BMG_DS057071,
+BMGC_DS15192,BMG_DS057072,
+BMGC_DS15193,BMG_DS057074,MONDO: Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.
+BMGC_DS15194,BMG_DS057075,"NCI: An inherited condition caused by mutation(s) in the PAX5 gene, encoding paired box protein Pax-5. The condition is characterized by an increased risk of developing B-cell acute lymphoblastic leukemia. | MONDO: Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene."
+BMGC_DS15195,BMG_DS057076,"NCI: An autosomal recessive condition caused by mutation(s) in the FAT4 gene, encoding protocadherin Fat 4. It is characterized by periventricular nodular heterotopia, renal hypoplasia, hand anomalies, and skeletal dysplasia. | MONDO: Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene."
+BMGC_DS15196,BMG_DS057077,"SNOMEDCT_US: A rare genetic, endocrine disease with manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities. | MONDO: Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities."
+BMGC_DS15197,BMG_DS057078,"NCI: A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries. | MONDO: Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'"
+BMGC_DS15198,BMG_DS057079,MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.
+BMGC_DS15199,BMG_DS057080,MONDO: Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene.
+BMGC_DS15200,BMG_DS057081,"NCI: A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age. | MONDO: A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age."
+BMGC_DS15201,BMG_DS057082,"MONDO: SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)."
+BMGC_DS15202,BMG_DS057083,MONDO: Mammary polyadenomatosis is characterized by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns.
+BMGC_DS15203,BMG_DS057084,
+BMGC_DS15204,BMG_DS057085,MONDO: Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.
+BMGC_DS15205,BMG_DS057086,
+BMGC_DS15206,BMG_DS057087,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene.
+BMGC_DS15207,BMG_DS057088,MONDO: Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.
+BMGC_DS15208,BMG_DS057089,"SNOMEDCT_US: A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21."
+BMGC_DS15209,BMG_DS057090,MONDO: Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.
+BMGC_DS15210,BMG_DS057091,MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
+BMGC_DS15211,BMG_DS057092,"NCI: Loeys-Dietz syndrome caused by mutation(s) in the TGFB3 gene, encoding transforming growth factor beta-3 proprotein. | MONDO: Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection."
+BMGC_DS15212,BMG_DS057093,"ORPHANET: A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures."
+BMGC_DS15213,BMG_DS057094,MONDO: Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.
+BMGC_DS15214,BMG_DS057095,MONDO: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the C9 gene.
+BMGC_DS15215,BMG_DS057096,"MONDO: Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma."
+BMGC_DS15216,BMG_DS057097,MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.
+BMGC_DS15217,BMG_DS057098,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. Caused by mutations in the gene STT3A (11q23.3)."
+BMGC_DS15218,BMG_DS057099,"SNOMEDCT_US: This disease is a non-syndromic diffuse palmoplantar keratoderma resembling a mild form of mal de Meleda. So far, it has been described in 20 individuals.Transmission is autosomal recessive. Evidence suggests this disease is caused by homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21. | MONDO: Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda."
+BMGC_DS15219,BMG_DS057100,"MONDO: Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated."
+BMGC_DS15220,BMG_DS057101,"ORPHANET: A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported."
+BMGC_DS15221,BMG_DS057103,MONDO: Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene.
+BMGC_DS15222,BMG_DS057104,MONDO: Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.
+BMGC_DS15223,BMG_DS057105,"MONDO: Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18."
+BMGC_DS15224,BMG_DS057106,
+BMGC_DS15225,BMG_DS057107,"NCI: An autosomal dominant subtype of arrhythmogenic right ventricular dysplasia caused by mutation(s) in the CTNNA3 gene, encoding catenin alpha-3. | MONDO: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene."
+BMGC_DS15226,BMG_DS057108,MONDO: Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene.
+BMGC_DS15227,BMG_DS057109,
+BMGC_DS15228,BMG_DS057110,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene.
+BMGC_DS15229,BMG_DS057111,MONDO: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
+BMGC_DS15230,BMG_DS057113,
+BMGC_DS15231,BMG_DS057114,MONDO: Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.
+BMGC_DS15232,BMG_DS057115,MONDO: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.
+BMGC_DS15233,BMG_DS057116,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.
+BMGC_DS15234,BMG_DS057117,"MONDO: Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally."
+BMGC_DS15235,BMG_DS057118,MONDO: Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene.
+BMGC_DS15236,BMG_DS057119,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene.
+BMGC_DS15237,BMG_DS057120,"MONDO: PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin."
+BMGC_DS15238,BMG_DS057121,
+BMGC_DS15239,BMG_DS057122,"MONDO: Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy."
+BMGC_DS15240,BMG_DS057123,
+BMGC_DS15241,BMG_DS057124,"SNOMEDCT_US: An extremely rare and complex form of hereditary spastic paraplegia reported in only 4 patients from 2 families to date. The disease has characteristics of spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. | MONDO: An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1."
+BMGC_DS15242,BMG_DS057125,"SNOMEDCT_US: A rare complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. | MONDO: A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1."
+BMGC_DS15243,BMG_DS057126,"SNOMEDCT_US: An extremely rare and complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. | MONDO: An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2."
+BMGC_DS15244,BMG_DS057127,MONDO: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.
+BMGC_DS15245,BMG_DS057128,MONDO: A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.
+BMGC_DS15246,BMG_DS057129,
+BMGC_DS15247,BMG_DS057130,"MONDO: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features."
+BMGC_DS15248,BMG_DS057131,"SNOMEDCT_US: An extremely rare autosomal recessive hereditary cerebellar ataxia disorder with characteristics of early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated. | MONDO: Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene."
+BMGC_DS15249,BMG_DS057132,
+BMGC_DS15250,BMG_DS057133,
+BMGC_DS15251,BMG_DS057134,
+BMGC_DS15252,BMG_DS057135,MONDO: Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene.
+BMGC_DS15253,BMG_DS057136,
+BMGC_DS15254,BMG_DS057137,MONDO: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.
+BMGC_DS15255,BMG_DS057138,MONDO: Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.
+BMGC_DS15256,BMG_DS057139,"SNOMEDCT_US: A rare hereditary syndromic intellectual disability with characteristics of developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oro motor dysfunction, seizures and autism spectrum disorder. Dysmorphic facial features are variable and nonspecific. Caused by heterozygous mutation in the NR2F1 gene on chromosome 5q15. | MONDO: Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific."
+BMGC_DS15257,BMG_DS057141,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene.
+BMGC_DS15258,BMG_DS057142,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.
+BMGC_DS15259,BMG_DS057143,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.
+BMGC_DS15260,BMG_DS057144,MONDO: Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.
+BMGC_DS15261,BMG_DS057145,
+BMGC_DS15262,BMG_DS057146,"NCI: An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the GABRA1 gene, encoding gamma-aminobutyric acid receptor subunit alpha-1. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene."
+BMGC_DS15263,BMG_DS057147,MONDO: Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.
+BMGC_DS15264,BMG_DS057148,
+BMGC_DS15265,BMG_DS057149,"MONDO: Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis."
+BMGC_DS15266,BMG_DS057150,
+BMGC_DS15267,BMG_DS057151,
+BMGC_DS15268,BMG_DS057152,
+BMGC_DS15269,BMG_DS057153,"NCI: An autosomal dominant condition caused by mutation(s) in the TUBB2A gene, encoding tubulin beta-2A chain. It is characterized by cortical dysplasia and is associated with impaired intellectual development, hypotonia, global developmental delay, cortical dysplasia, and dysmorphic corpus callosum. | MONDO: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene."
+BMGC_DS15270,BMG_DS057154,HPO: A form of sensorineural hearing impairment that affects primarily the lower frequencies. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS15271,BMG_DS057168,"MeSH: Interstitial pneumonia caused by extensive infection of the lungs (LUNG) and BRONCHI, particularly the lower lobes of the lungs, by MYCOPLASMA PNEUMONIAE in humans. In SHEEP, it is caused by MYCOPLASMA OVIPNEUMONIAE. In CATTLE, it may be caused by MYCOPLASMA DISPAR."
+BMGC_DS15272,BMG_DS057182,
+BMGC_DS15273,BMG_DS057187,MONDO: Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.
+BMGC_DS15274,BMG_DS057188,
+BMGC_DS15275,BMG_DS057190,"MONDO: An inherited susceptibility or predisposition to developing diabetes mellitus, ketosis. | MeSH: A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence."
+BMGC_DS15276,BMG_DS057191,MONDO: An inherited susceptibility or predisposition to developing COPD.
+BMGC_DS15277,BMG_DS057201,"SNOMEDCT_US: A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol. | MONDO: Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol."
+BMGC_DS15278,BMG_DS057208,"SNOMEDCT_US: A familial condition where too much aldosterone is produced by the adrenal glands which can lead to lowered levels of potassium in the blood. | MONDO: Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia."
+BMGC_DS15279,BMG_DS057238,"ORPHANET: A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent. | MONDO: A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent."
+BMGC_DS15280,BMG_DS057244,
+BMGC_DS15281,BMG_DS057317,"ORPHANET: A group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions, with cerebrofacial arteriovenous metameric syndrome (CAMS) 1 (medial prosencephalic group) involving the hypothalamus and nasal region, Wyburn-Mason syndrome (lateral prosencephalic group) involving the occipital lobe, thalamus, and maxilla, and CAMS 3 (lateral rhombencephalic group) involving the cerebellum, pons, and mandible. | MONDO: A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region."
+BMGC_DS15282,BMG_DS057323,
+BMGC_DS15283,BMG_DS057422,"NCI: An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported. | MONDO: An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported."
+BMGC_DS15284,BMG_DS057442,"NCI: A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter. | MONDO: Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described."
+BMGC_DS15285,BMG_DS057455,"SNOMEDCT_US: A rare genetic neurovascular malformation characterised by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid haemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms. | MONDO: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm."
+BMGC_DS15286,BMG_DS057468,"ORPHANET: A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality. | MONDO: A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality."
+BMGC_DS15287,BMG_DS057553,NCI: An exceptionally rare adenocarcinoma that arises from the rete ovarii. | MONDO: An exceptionally rare adenocarcinoma that arises from the rete ovarii.
+BMGC_DS15288,BMG_DS057557,"NCI: An intermediate, rarely metastasizing blood vessel neoplasm that more frequently affects young adult males and usually arises in the lower limbs. In approximately half of the affected patients the tumor is painful and in two-thirds of the patients the tumor is multifocal. Morphologically it is characterized by the presence of sheets and fascicles of spindle cells with abundant eosinophilic cytoplasm and vesicular nuclei. Cytologic atypia is usually mild. Approximately 60% of the patients develop local recurrences or additional tumors in the same anatomic region."
+BMGC_DS15289,BMG_DS057562,
+BMGC_DS15290,BMG_DS057566,"MeSH: Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse."
+BMGC_DS15291,BMG_DS057567,"MeSH: Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse."
+BMGC_DS15292,BMG_DS057568,"MeSH: Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse."
+BMGC_DS15293,BMG_DS057569,"MeSH: Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse."
+BMGC_DS15294,BMG_DS057571,"MeSH: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)"
+BMGC_DS15295,BMG_DS057578,"MeSH: Inflammation of the DUODENUM section of the small intestine (INTESTINE, SMALL). Erosive duodenitis may cause bleeding in the UPPER GI TRACT and PEPTIC ULCER."
+BMGC_DS15296,BMG_DS057580,"MeSH: A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES."
+BMGC_DS15297,BMG_DS057584,
+BMGC_DS15298,BMG_DS057586,"HPO: A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS15299,BMG_DS057595,"SNOMEDCT_US: A rare life threatening acquired neurologic disease with characteristics of neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. | MONDO: Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases."
+BMGC_DS15300,BMG_DS057597,"MeSH: A finding of elevated serum level of FERRITIN. It is often associated with IRON OVERLOAD, repeated blood transfusions, malignancy, iron metabolic syndromes, virus infection, liver injury or dysfunction, and renal failure. Hyperferritinemia in iron metabolic syndromes (e.g., Still's diseases, and HEMOPHAGOCYTIC SYNDROME) is referred to as dysmetabolic hyperferritinemia."
+BMGC_DS15301,BMG_DS057607,"ORPHANET: A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns. | MONDO: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids."
+BMGC_DS15302,BMG_DS057716,
+BMGC_DS15303,BMG_DS057727,"ORPHANET: A rare interstitial lung disease characterized by the coexistence of emphysema and usual interstitial pneumonia, typically occurring in male smokers. Emphysema is usually encountered in the upper lobes, preceding fibrosis of the lower lobes. Patients present with severe dyspnea and markedly reduced diffusion capacity on functional testing, while spirometric values are relatively preserved. The syndrome is frequently complicated by pulmonary hypertension and acute lung injury."
+BMGC_DS15304,BMG_DS057831,"MeSH: Allergic rhinitis due to HOUSE DUST MITE ALLERGENS (e.g., Der p 1 of HOUSE DUST MITES) that is triggered by the immune system."
+BMGC_DS15305,BMG_DS057850,"ORPHANET: A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occuring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia. | MONDO: A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck."
+BMGC_DS15306,BMG_DS057861,
+BMGC_DS15307,BMG_DS057873,
+BMGC_DS15308,BMG_DS057934,
+BMGC_DS15309,BMG_DS057996,
+BMGC_DS15310,BMG_DS058001,"HPO: The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. [https://orcid.org/0000-0002-0736-9199] | MONDO: An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis."
+BMGC_DS15311,BMG_DS058022,"MeSH: Allergic rhinitis due to HOUSE DUST MITE ALLERGENS (e.g., Der p 1 of HOUSE DUST MITES) that is triggered by the immune system."
+BMGC_DS15312,BMG_DS058038,
+BMGC_DS15313,BMG_DS058041,
+BMGC_DS15314,BMG_DS058042,HPO: Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS15315,BMG_DS058045,
+BMGC_DS15316,BMG_DS058047,MONDO: Autosomal recessive form of bifid nose.
+BMGC_DS15317,BMG_DS058048,MONDO: A congenital or acquired kidney disorder characterized by the presence of renal cysts.
+BMGC_DS15318,BMG_DS058049,MONDO: An inherited susceptibility or predisposition to developing acquired partial lipodystrophy.
+BMGC_DS15319,BMG_DS058050,"MeSH: Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders."
+BMGC_DS15320,BMG_DS058052,"NCI: An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. | MONDO: An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis."
+BMGC_DS15321,BMG_DS058053,
+BMGC_DS15322,BMG_DS058054,
+BMGC_DS15323,BMG_DS058055,"HPO: Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. [PMID:19667340] | MeSH: A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus."
+BMGC_DS15324,BMG_DS058058,"MONDO: Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). | MeSH: A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive."
+BMGC_DS15325,BMG_DS058062,MONDO: Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.
+BMGC_DS15326,BMG_DS058063,"MeSH: A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)"
+BMGC_DS15327,BMG_DS058065,NCI: Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma. | MONDO: Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.
+BMGC_DS15328,BMG_DS058067,"MONDO: A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. | MeSH: Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share."
+BMGC_DS15329,BMG_DS058068,"MeSH: Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis."
+BMGC_DS15330,BMG_DS058070,"MONDO: Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency."
+BMGC_DS15331,BMG_DS058071,
+BMGC_DS15332,BMG_DS058074,MONDO: An disease or disorder caused by infection with Trichinella spiralis.
+BMGC_DS15333,BMG_DS058079,NCI: Disorder of the optic nerve. | MONDO: A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).
+BMGC_DS15334,BMG_DS058080,
+BMGC_DS15335,BMG_DS058082,MONDO: Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene.
+BMGC_DS15336,BMG_DS058085,"NCI: An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1. | MONDO: Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene. | MeSH: Congenital heart valve defects where the AORTIC VALVE has two instead of normal three cusps. It is often associated with AORTIC REGURGITATION and AORTIC INSUFFICIENCY."
+BMGC_DS15337,BMG_DS058087,
+BMGC_DS15338,BMG_DS058091,MONDO: A cataract that has material basis in mutation in the region 14q22-q23.
+BMGC_DS15339,BMG_DS058092,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1.
+BMGC_DS15340,BMG_DS058093,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.
+BMGC_DS15341,BMG_DS058094,
+BMGC_DS15342,BMG_DS058095,
+BMGC_DS15343,BMG_DS058096,"HPO: A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS15344,BMG_DS058097,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.
+BMGC_DS15345,BMG_DS058098,
+BMGC_DS15346,BMG_DS058100,MONDO: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.
+BMGC_DS15347,BMG_DS058101,
+BMGC_DS15348,BMG_DS058102,"HPO: A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS15349,BMG_DS058104,MONDO: A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.
+BMGC_DS15350,BMG_DS058105,
+BMGC_DS15351,BMG_DS058106,MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.
+BMGC_DS15352,BMG_DS058107,MONDO: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene.
+BMGC_DS15353,BMG_DS058108,MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.
+BMGC_DS15354,BMG_DS058109,"NCI: An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS6 gene, encoding Hermansky-Pudlak syndrome 6 protein. Individuals with this type of syndrome, as well as with types 3 or 5, have the mildest symptoms. | MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene."
+BMGC_DS15355,BMG_DS058110,
+BMGC_DS15356,BMG_DS058112,"MONDO: An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome. | MeSH: A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8)."
+BMGC_DS15357,BMG_DS058113,NCI: A hallucination of an unpleasant odor. | MeSH: Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.
+BMGC_DS15358,BMG_DS058114,MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.
+BMGC_DS15359,BMG_DS058116,MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.
+BMGC_DS15360,BMG_DS058117,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.
+BMGC_DS15361,BMG_DS058118,"SNOMEDCT_US: Disease with characteristics of adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. Reported in less than 20 cases from 3 Chinese families to date. No cognitive impairment is noted. Patients are usually wheelchair bound 10 years after the onset of symptoms. Caused by a mutation in the TGM6 gene (20p13) encoding transglutaminase 6 (TG6), a member of the transglutaminase family of enzymes. TG6 is expressed in the kidney, skin, eyes and neurons but the exact process that leads to this disease is unknown. Inherited autosomal dominantly. | MONDO: Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis."
+BMGC_DS15362,BMG_DS058120,
+BMGC_DS15363,BMG_DS058121,
+BMGC_DS15364,BMG_DS058122,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. A late onset with severe sensory loss associated with distal weakness mainly of the legs and absent or reduced deep tendon reflexes. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes."
+BMGC_DS15365,BMG_DS058123,MONDO: Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.
+BMGC_DS15366,BMG_DS058124,
+BMGC_DS15367,BMG_DS058125,"NCI: A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions."
+BMGC_DS15368,BMG_DS058126,"NCI: An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin. | MONDO: An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin."
+BMGC_DS15369,BMG_DS058128,"ORPHANET: A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees. | MONDO: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees."
+BMGC_DS15370,BMG_DS058129,"ORPHANET: Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset. | MONDO: Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset."
+BMGC_DS15371,BMG_DS058130,"SNOMEDCT_US: A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance. | MONDO: A hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life."
+BMGC_DS15372,BMG_DS058131,
+BMGC_DS15373,BMG_DS058133,MONDO: An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.
+BMGC_DS15374,BMG_DS058134,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.
+BMGC_DS15375,BMG_DS058135,"SNOMEDCT_US: A retinal dystrophy with characteristics of central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). To date less than 20 cases have been described in the world literature. Caused by compound heterozygous or homozygous mutations in the BEST1 gene (11q12) which encodes the chloride ion channel bestrophin-1 (expressed in the retinal pigment epithelium (RPE)). Mutations in BEST1 reduce or abolish the activity of the channel. It has been proposed that ARB may represent the null phenotype of bestrophin-1 in humans. Transmission is autosomal recessive. | MONDO: Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)."
+BMGC_DS15376,BMG_DS058136,
+BMGC_DS15377,BMG_DS058137,
+BMGC_DS15378,BMG_DS058138,"SNOMEDCT_US: A pure form of hereditary spastic paraplegia with onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. | MONDO: Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise."
+BMGC_DS15379,BMG_DS058139,"SNOMEDCT_US: A rare pure or complex form of hereditary spastic paraplegia with characteristics of onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses that may be associated with intellectual disability. Additional signs such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. Caused by homozygous mutation in the NT5C2 gene on chromosome 10q24. | MONDO: Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported."
+BMGC_DS15380,BMG_DS058140,"NCI: A genetic condition inherited in an autosomal dominant fashion linked to chromosome 2p21-p12, characterized by bilateral hearing loss. | MONDO: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12."
+BMGC_DS15381,BMG_DS058141,
+BMGC_DS15382,BMG_DS058142,MONDO: Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene.
+BMGC_DS15383,BMG_DS058143,MONDO: An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.
+BMGC_DS15384,BMG_DS058144,"NCI: A genetic condition usually inherited in an autosomal dominant pattern. It is cause by mutation(s) in the IFIH1 gene, encoding interferon-induced helicase C domain-containing protein 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon. | MONDO: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene."
+BMGC_DS15385,BMG_DS058145,"MONDO: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene."
+BMGC_DS15386,BMG_DS058146,"MONDO: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients."
+BMGC_DS15387,BMG_DS058147,"MONDO: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage."
+BMGC_DS15388,BMG_DS058148,"MONDO: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages."
+BMGC_DS15389,BMG_DS058149,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.
+BMGC_DS15390,BMG_DS058151,"MONDO: An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause."
+BMGC_DS15391,BMG_DS058152,MONDO: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.
+BMGC_DS15392,BMG_DS058153,
+BMGC_DS15393,BMG_DS058154,
+BMGC_DS15394,BMG_DS058155,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.
+BMGC_DS15395,BMG_DS058156,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome."
+BMGC_DS15396,BMG_DS058158,"SNOMEDCT_US: A type of oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on chromosome 4q24 but the gene has not yet been discovered. | MONDO: Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered."
+BMGC_DS15397,BMG_DS058159,
+BMGC_DS15398,BMG_DS058160,MONDO: An autoimmune form of uveitis (disease).
+BMGC_DS15399,BMG_DS058161,"NCI: Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood. | MONDO: Diabetes mellitus that is caused by mutations in a single gene."
+BMGC_DS15400,BMG_DS058162,"MeSH: A severe form of acute INFLAMMATION of the PANCREAS characterized by one or more areas of NECROSIS in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. Massive pancreatic necrosis may lead to DIABETES MELLITUS, and malabsorption."
+BMGC_DS15401,BMG_DS058163,MeSH: A serious complication of TYPE 2 DIABETES MELLITUS. It is characterized by extreme HYPERGLYCEMIA; DEHYDRATION; serum hyperosmolarity; and depressed consciousness leading to COMA in the absence of KETOSIS and ACIDOSIS.
+BMGC_DS15402,BMG_DS058166,"SNOMEDCT_US: Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterised by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. | MONDO: Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
+BMGC_DS15403,BMG_DS058167,MeSH: Fungal infection caused by genus CRYPTOCOCCUS.
+BMGC_DS15404,BMG_DS058169,"SNOMEDCT_US: A form of spondyloarthritis in which the predominant symptom is back pain, and where radiographic sacroiliitis might or might not be present. | MeSH: Chronic inflammatory conditions affecting the axial joints which cannot be detectable on x-rays. It is characterized by pain, stiffness of joints and inflammation. Non-radiographic axial spondyloarthritis can have symptoms onset before the age of 45 and progress to more severe ANKYLOSING SPONDYLITIS over time."
+BMGC_DS15405,BMG_DS058170,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.
+BMGC_DS15406,BMG_DS058171,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene.
+BMGC_DS15407,BMG_DS058172,"SNOMEDCT_US: Disease with characteristics of cerebellar syndrome along with altered vertical eye movements. Reported in nine members of Spanish kindred to date. Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations are slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. The causal gene is unknown but it has been mapped to chromosome 1p32 and named the SCA37 locus. Inherited in an autosomal dominant manner. | MONDO: Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements."
+BMGC_DS15408,BMG_DS058174,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.
+BMGC_DS15409,BMG_DS058175,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.
+BMGC_DS15410,BMG_DS058176,"NCI: A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with negative serologic testing for rheumatoid factor. | MONDO: Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset."
+BMGC_DS15411,BMG_DS058178,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.
+BMGC_DS15412,BMG_DS058180,NCI: A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. | MONDO: A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.
+BMGC_DS15413,BMG_DS058182,MONDO: Any Wilms tumor in which the cause of the disease is a mutation in the REST gene.
+BMGC_DS15414,BMG_DS058183,
+BMGC_DS15415,BMG_DS058184,MONDO: Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.
+BMGC_DS15416,BMG_DS058185,"SNOMEDCT_US: Pituitary abnormality that causes abnormally fast growth in infancy or early childhood. Individuals may present with hyperplasia of the pituitary gland or a benign pituitary adenoma. Rarely both pituitary hyperplasia and an adenoma may be present. The abnormal pituitary gland releases excess amounts of growth hormone and in some cases excess amounts of growth hormone releasing hormone. Additional manifestations of the disorder include coarse facial features, acral enlargement, an increased appetite and acanthosis nigricans. Caused by duplication on the X chromosome, the duplication, often referred to as an Xq26.3 microduplication, occurs on the long (q) arm of the chromosome at a location designated q26.3. The disease follows an X-linked dominant inheritance pattern. In females, the condition results from de novo duplications involving the GPR101 gene. In males, the condition often results from somatic mosaicism. Other affected males inherit the duplication from their affected mother."
+BMGC_DS15417,BMG_DS058187,NCI: Acute inflammation of one or more joints caused by the presence of pus within the joint cavity. | MeSH: Arthritis caused by BACTERIA; RICKETTSIA; MYCOPLASMA; VIRUSES; FUNGI; or PARASITES.
+BMGC_DS15418,BMG_DS058188,MONDO: Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.
+BMGC_DS15419,BMG_DS058189,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.
+BMGC_DS15420,BMG_DS058190,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.
+BMGC_DS15421,BMG_DS058191,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene.
+BMGC_DS15422,BMG_DS058192,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.
+BMGC_DS15423,BMG_DS058193,"ORPHANET: A rare inherited cancer-predisposing syndrome characterized by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes. | MONDO: Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes."
+BMGC_DS15424,BMG_DS058196,"NCI: Slowly progressive systemic mastocytosis with uncertain prognosis. It is characterized by organomegaly and absence of aggressive disease. | MONDO: Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions."
+BMGC_DS15425,BMG_DS058205,NCI: Localized scleroderma presenting before the age of eighteen.
+BMGC_DS15426,BMG_DS058215,"NCI: An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. | MONDO: An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions."
+BMGC_DS15427,BMG_DS058219,"NCI: Reduced serum concentration of the acid-labile subunit (ALS, a protein encoded by the IGFALS gene) of the complex usually comprised of IGF-I, IGFBP-3 and ALS. | MONDO: Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity."
+BMGC_DS15428,BMG_DS058220,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.
+BMGC_DS15429,BMG_DS058221,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene.
+BMGC_DS15430,BMG_DS058222,
+BMGC_DS15431,BMG_DS058223,MONDO: Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.
+BMGC_DS15432,BMG_DS058224,"SNOMEDCT_US: A form of frontotemporal dementia characterised by progressive behavioural impairment and a decline in executive function with frontal lobe-predominant atrophy. | MONDO: Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy."
+BMGC_DS15433,BMG_DS058225,MONDO: Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.
+BMGC_DS15434,BMG_DS058227,"SNOMEDCT_US: A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of a complete deficiency in interferon gamma receptor 1(IFN-gammaR1), leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin and other environmental mycobacteria. Infection is disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. Manifestations include fever, weight loss, hepatosplenomegaly, lymphadenopathies and lepromatous-like lesions. Caused by complete IFN-gammaR1 deficiency due to mutations in the IFNGR1 gene on chromosome 6q23-q24. Transmission is autosomal recessive."
+BMGC_DS15435,BMG_DS058228,
+BMGC_DS15436,BMG_DS058230,MONDO: Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.
+BMGC_DS15437,BMG_DS058231,
+BMGC_DS15438,BMG_DS058234,MONDO: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.
+BMGC_DS15439,BMG_DS058235,
+BMGC_DS15440,BMG_DS058238,
+BMGC_DS15441,BMG_DS058240,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28). | MONDO: A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28)."
+BMGC_DS15442,BMG_DS058243,MONDO: Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.
+BMGC_DS15443,BMG_DS058245,
+BMGC_DS15444,BMG_DS058246,"NCI: An autosomal dominant condition caused by mutation(s) in the PIK3R2 gene, encoding phosphatidylinositol 3-kinase regulatory subunit beta. It is characterized by mild to severe intellectual disability, megencephaly, polymicrogyria, and postaxial polydactyly. | MONDO: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene."
+BMGC_DS15445,BMG_DS058247,"NCI: An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. | MONDO: Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene."
+BMGC_DS15446,BMG_DS058255,"MONDO: An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene."
+BMGC_DS15447,BMG_DS058256,
+BMGC_DS15448,BMG_DS058258,
+BMGC_DS15449,BMG_DS058261,
+BMGC_DS15450,BMG_DS058262,
+BMGC_DS15451,BMG_DS058263,"MONDO: Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene."
+BMGC_DS15452,BMG_DS058265,"NCI: A genetic condition caused by mutation(s) in the IFNGR2 gene, encoding interferon gamma receptor 2, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species. | MONDO: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene."
+BMGC_DS15453,BMG_DS058266,MONDO: Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene.
+BMGC_DS15454,BMG_DS058267,"NCI: An autosomal recessive condition caused by mutation(s) in the IL12RB1 gene, encoding interleukin-12 receptor subunit beta-1. It is characterized by a susceptibility to mycobacterial disease. IL12RB1 associated with IL12RB2 results in a high affinity receptor for IL12. IL12RB1 combined with IL23R forms the interleukin-23 receptor. | MONDO: Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene."
+BMGC_DS15455,BMG_DS058268,"MONDO: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections."
+BMGC_DS15456,BMG_DS058274,"NCI: An extremely rare autosomal recessive condition caused by mutation(s) in the LCK gene, encoding tyrosine-protein kinase Lck. It is characterized by T-cell dysfunction."
+BMGC_DS15457,BMG_DS058275,
+BMGC_DS15458,BMG_DS058276,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.
+BMGC_DS15459,BMG_DS058277,MONDO: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.
+BMGC_DS15460,BMG_DS058278,"MONDO: Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa."
+BMGC_DS15461,BMG_DS058279,MONDO: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.
+BMGC_DS15462,BMG_DS058280,"MONDO: Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene."
+BMGC_DS15463,BMG_DS058281,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.
+BMGC_DS15464,BMG_DS058283,
+BMGC_DS15465,BMG_DS058284,
+BMGC_DS15466,BMG_DS058285,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.
+BMGC_DS15467,BMG_DS058286,"ORPHANET: A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. | MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene."
+BMGC_DS15468,BMG_DS058287,MONDO: Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.
+BMGC_DS15469,BMG_DS058288,NCI: A condition of decreased or absent presence or activity of phosphoglucomutase 3. Deficiency of this protein is associated with immunodeficiency 23.
+BMGC_DS15470,BMG_DS058289,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.
+BMGC_DS15471,BMG_DS058290,
+BMGC_DS15472,BMG_DS058291,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.
+BMGC_DS15473,BMG_DS058292,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene.
+BMGC_DS15474,BMG_DS058293,"SNOMEDCT_US: A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36."
+BMGC_DS15475,BMG_DS058294,MONDO: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.
+BMGC_DS15476,BMG_DS058295,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.
+BMGC_DS15477,BMG_DS058296,"MONDO: Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures."
+BMGC_DS15478,BMG_DS058298,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.
+BMGC_DS15479,BMG_DS058299,MONDO: Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene.
+BMGC_DS15480,BMG_DS058300,MONDO: Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene.
+BMGC_DS15481,BMG_DS058301,
+BMGC_DS15482,BMG_DS058302,"ORPHANET: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. | MONDO: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination."
+BMGC_DS15483,BMG_DS058303,MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.
+BMGC_DS15484,BMG_DS058304,
+BMGC_DS15485,BMG_DS058305,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene.
+BMGC_DS15486,BMG_DS058306,MONDO: Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.
+BMGC_DS15487,BMG_DS058307,"MONDO: Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema."
+BMGC_DS15488,BMG_DS058308,
+BMGC_DS15489,BMG_DS058309,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.
+BMGC_DS15490,BMG_DS058310,"NCI: An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCNO gene, encoding cyclin-O. | MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene."
+BMGC_DS15491,BMG_DS058311,"SNOMEDCT_US: Syndrome with a wide variety of signs and symptoms, hallmark features are intellectual disability and autism spectrum disorder, distinctive facial features and abnormalities of multiple body systems. Present in some cases are hypotonia, feeding difficulties in infancy, gastroesophageal reflux, vomiting, and constipation. Other features include obesity, seizures, and heart abnormalities. Caused by mutations in the ADNP gene, the protein produced from this gene helps control expression of other genes through chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain. The syndrome results from de novo mutations in the ADNP gene and is not inherited. | MONDO: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13."
+BMGC_DS15492,BMG_DS058312,"MONDO: Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present."
+BMGC_DS15493,BMG_DS058313,"SNOMEDCT_US: A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | MONDO: A rare multiple congenital anomalies syndrome characterized by greater height, mild to moderate intellectual disability and distinctive facial appearance like round face, heavy, horizontal eyebrows and narrow palpebral fissures."
+BMGC_DS15494,BMG_DS058314,MONDO: Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.
+BMGC_DS15495,BMG_DS058315,MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.
+BMGC_DS15496,BMG_DS058316,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.
+BMGC_DS15497,BMG_DS058317,"MONDO: Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported."
+BMGC_DS15498,BMG_DS058318,
+BMGC_DS15499,BMG_DS058319,"MONDO: Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family."
+BMGC_DS15500,BMG_DS058320,"SNOMEDCT_US: A rare genetic glycogen storage disorder with characteristics of polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive usually dilated cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and auto-inflammation presenting with recurrent bacterial infections have also been reported. Caused by homozygous or compound heterozygous mutation in the RBCK1 gene on chromosome 20p13. | MONDO: A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported."
+BMGC_DS15501,BMG_DS058321,MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.
+BMGC_DS15502,BMG_DS058322,"MONDO: Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens."
+BMGC_DS15503,BMG_DS058323,"NCI: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the SLC13A5 gene, encoding solute carrier family 13 member 5. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene."
+BMGC_DS15504,BMG_DS058324,MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene.
+BMGC_DS15505,BMG_DS058325,MONDO: An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
+BMGC_DS15506,BMG_DS058327,MONDO: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.
+BMGC_DS15507,BMG_DS058328,"ORPHANET: A rare mitochondrial oxidative phosphorylation disorder characterized by variable combination of psychomotor delay, hypotonia, muscle weakness, seizures, microcephaly, cardiomyopathy and mild dysmorphic facial features. Variable types of structural brain anomalies have also been reported. Biochemical studies typically show decreased activity of mitochondrial complexes (mainly complex I). | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene."
+BMGC_DS15508,BMG_DS058329,"ORPHANET: A rare developmental defect during embyogenesis caused by homozygous mutations in the &lt;i&gt;PCNA&lt;/i&gt; gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline."
+BMGC_DS15509,BMG_DS058330,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene.
+BMGC_DS15510,BMG_DS058331,"MONDO: Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis."
+BMGC_DS15511,BMG_DS058332,
+BMGC_DS15512,BMG_DS058333,
+BMGC_DS15513,BMG_DS058334,"NCI: An autosomal dominant condition caused by mutation(s) in the STING1 gene, encoding stimulator of interferon genes protein. It is characterized by an autoinflammatory vasculopathy resulting in severe skin lesions. | MONDO: STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation."
+BMGC_DS15514,BMG_DS058335,MONDO: Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.
+BMGC_DS15515,BMG_DS058336,MONDO: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene.
+BMGC_DS15516,BMG_DS058338,MONDO: Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene.
+BMGC_DS15517,BMG_DS058339,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.
+BMGC_DS15518,BMG_DS058340,
+BMGC_DS15519,BMG_DS058341,MONDO: Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.
+BMGC_DS15520,BMG_DS058342,"NCI: An autosomal dominant condition caused by mutation(s) in the STAT3 gene, encoding signal transducer and activator of transcription 3. It is characterized by variable features along a spectrum of autoimmune disorders affecting multiple organs. Common manifestations may include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis."
+BMGC_DS15521,BMG_DS058343,MONDO: Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.
+BMGC_DS15522,BMG_DS058344,MONDO: Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.
+BMGC_DS15523,BMG_DS058345,"SNOMEDCT_US: A rare neuro-ophthalmological disease with characteristics of nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. Caused by homozygous or compound heterozygous mutation in the LAMA1 gene on chromosome 18p11. | MONDO: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease."
+BMGC_DS15524,BMG_DS058346,MONDO: Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene.
+BMGC_DS15525,BMG_DS058347,"NCI: An autosomal recessive severe combined immunodeficiency caused by mutation(s) in the PRKDC gene, encoding DNA-dependent protein kinase catalytic subunit. | MONDO: Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation."
+BMGC_DS15526,BMG_DS058348,MONDO: Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene.
+BMGC_DS15527,BMG_DS058349,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.
+BMGC_DS15528,BMG_DS058350,"MONDO: A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)."
+BMGC_DS15529,BMG_DS058351,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.
+BMGC_DS15530,BMG_DS058352,"ORPHANET: A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo."
+BMGC_DS15531,BMG_DS058354,MONDO: Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.
+BMGC_DS15532,BMG_DS058355,"NCI: An autosomal dominant type of focal segmental glomerulosclerosis caused by mutation(s) in the PAX2 gene, encoding which paired box protein Pax-2. | MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene."
+BMGC_DS15533,BMG_DS058356,"NCI: An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma."
+BMGC_DS15534,BMG_DS058358,MONDO: Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.
+BMGC_DS15535,BMG_DS058359,"ORPHANET: A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging."
+BMGC_DS15536,BMG_DS058360,"NCI: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the JAGN1 gene, encoding protein jagunal homolog 1."
+BMGC_DS15537,BMG_DS058361,MONDO: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.
+BMGC_DS15538,BMG_DS058362,MONDO: Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene.
+BMGC_DS15539,BMG_DS058363,MONDO: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.
+BMGC_DS15540,BMG_DS058365,"SNOMEDCT_US: A rare genetic ectodermal dysplasia syndrome characterised by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with oesophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anaemia have also been observed. | MONDO: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed."
+BMGC_DS15541,BMG_DS058366,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.
+BMGC_DS15542,BMG_DS058367,MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene.
+BMGC_DS15543,BMG_DS058368,
+BMGC_DS15544,BMG_DS058371,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.
+BMGC_DS15545,BMG_DS058372,MONDO: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.
+BMGC_DS15546,BMG_DS058373,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.
+BMGC_DS15547,BMG_DS058374,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.
+BMGC_DS15548,BMG_DS058376,
+BMGC_DS15549,BMG_DS058377,"ORPHANET: A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death."
+BMGC_DS15550,BMG_DS058378,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.
+BMGC_DS15551,BMG_DS058382,"SNOMEDCT_US: A rare hereditary ataxia characterised by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalised muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus."
+BMGC_DS15552,BMG_DS058383,"NCI: An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the KCNB1 gene, encoding potassium voltage-gated channel subfamily B member 1. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene."
+BMGC_DS15553,BMG_DS058384,MONDO: Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene.
+BMGC_DS15554,BMG_DS058385,
+BMGC_DS15555,BMG_DS058386,
+BMGC_DS15556,BMG_DS058387,MONDO: Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.
+BMGC_DS15557,BMG_DS058388,MONDO: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.
+BMGC_DS15558,BMG_DS058389,"NCI: An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities."
+BMGC_DS15559,BMG_DS058390,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.
+BMGC_DS15560,BMG_DS058391,MONDO: Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
+BMGC_DS15561,BMG_DS058392,MONDO: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.
+BMGC_DS15562,BMG_DS058393,"MONDO: Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful."
+BMGC_DS15563,BMG_DS058394,MONDO: Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene.
+BMGC_DS15564,BMG_DS058395,"ORPHANET: Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. | MONDO: Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence."
+BMGC_DS15565,BMG_DS058396,"ORPHANET: A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition."
+BMGC_DS15566,BMG_DS058397,MONDO: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.
+BMGC_DS15567,BMG_DS058398,"MONDO: Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent."
+BMGC_DS15568,BMG_DS058399,"NCI: A genetic condition caused by mutation(s) in the CTLA4 gene, encoding cytotoxic T-lymphocyte protein 4. Cytotoxic T-lymphocyte protein 4 is an inhibitory receptor acting as a negative regulator of T-cells, and two functional copies of the gene are required for normal immune function. Clinically, it may be characterized by gastrointestinal symptoms, lymphadenopathy, hepatomegaly, and splenomegaly, and autoimmune disorders. Mutations(s) in CTLA4 are also associated with autoimmune lymphoproliferative syndrome, type V. | MONDO: A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V."
+BMGC_DS15569,BMG_DS058401,MONDO: Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene.
+BMGC_DS15570,BMG_DS058402,"ORPHANET: A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium)."
+BMGC_DS15571,BMG_DS058403,MONDO: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.
+BMGC_DS15572,BMG_DS058404,"ORPHANET: A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities."
+BMGC_DS15573,BMG_DS058405,"ORPHANET: A rare hereditary periodic fever syndrome characterized by infantile or childhood onset of episodes of fever and cold-induced urticaria-like rash and arthralgias. Ocular features such as conjunctivitis and uveitis may also be present. Presentation is typically mild, and symptoms resolve without treatment in most cases. | MONDO: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene."
+BMGC_DS15574,BMG_DS058406,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.
+BMGC_DS15575,BMG_DS058407,MONDO: Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.
+BMGC_DS15576,BMG_DS058408,
+BMGC_DS15577,BMG_DS058409,MONDO: Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.
+BMGC_DS15578,BMG_DS058411,"ORPHANET: A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. | MONDO: Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene."
+BMGC_DS15579,BMG_DS058412,MONDO: Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene.
+BMGC_DS15580,BMG_DS058413,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.
+BMGC_DS15581,BMG_DS058414,"ORPHANET: A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination. | MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene."
+BMGC_DS15582,BMG_DS058416,MONDO: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.
+BMGC_DS15583,BMG_DS058417,MONDO: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.
+BMGC_DS15584,BMG_DS058418,"ORPHANET: A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. | MONDO: A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency."
+BMGC_DS15585,BMG_DS058419,"SNOMEDCT_US: A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated. | MONDO: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene."
+BMGC_DS15586,BMG_DS058420,
+BMGC_DS15587,BMG_DS058421,MONDO: Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.
+BMGC_DS15588,BMG_DS058422,MONDO: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.
+BMGC_DS15589,BMG_DS058423,
+BMGC_DS15590,BMG_DS058424,MONDO: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.
+BMGC_DS15591,BMG_DS058425,"NCI: A subtype of generalized epilepsy with febrile seizures plus caused by mutation(s) in the STX1B gene, encoding syntaxin-1B. | MONDO: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene."
+BMGC_DS15592,BMG_DS058426,MONDO: Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.
+BMGC_DS15593,BMG_DS058427,"ORPHANET: A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype."
+BMGC_DS15594,BMG_DS058428,"NCI: An autosomal dominant form of early progressive myoclonic epilepsy, caused by mutation(s) in the KCNC1 gene, encoding potassium voltage-gated channel subfamily C member 1. | MONDO: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene."
+BMGC_DS15595,BMG_DS058429,
+BMGC_DS15596,BMG_DS058430,"ORPHANET: A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy."
+BMGC_DS15597,BMG_DS058432,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene.
+BMGC_DS15598,BMG_DS058433,ORPHANET: A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. | MONDO: Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.
+BMGC_DS15599,BMG_DS058434,"ORPHANET: A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported."
+BMGC_DS15600,BMG_DS058435,"SNOMEDCT_US: Syndrome with characteristics of sick sinus syndrome and intestinal pseudo-obstruction. The heart and digestive issues develop at the same time, usually by age 20. The syndrome is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex cohesin. This protein complex helps control the placement of chromosomes during cell division. Research suggests that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause senescence of cells in the intestinal muscle and in the sinoatrial node, resulting in problems maintaining proper rhythmic movements of the heart and intestines. | MONDO: A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO)."
+BMGC_DS15601,BMG_DS058437,"ORPHANET: A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies. | MONDO: A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."
+BMGC_DS15602,BMG_DS058438,"ORPHANET: A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. | MONDO: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected."
+BMGC_DS15603,BMG_DS058439,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.
+BMGC_DS15604,BMG_DS058440,"ORPHANET: A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase."
+BMGC_DS15605,BMG_DS058441,"NCI: An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the WWOX gene, encoding WW domain-containing oxidoreductase. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene."
+BMGC_DS15606,BMG_DS058442,MONDO: Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene.
+BMGC_DS15607,BMG_DS058443,"NCI: An autosomal dominant disorder characterized by decreased platelets, bleeding tendency, and mutation in the ETV6 gene. It is associated with an increased risk of developing hematologic malignancy. | MONDO: Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene."
+BMGC_DS15608,BMG_DS058444,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.
+BMGC_DS15609,BMG_DS058445,MONDO: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.
+BMGC_DS15610,BMG_DS058446,MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.
+BMGC_DS15611,BMG_DS058447,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.
+BMGC_DS15612,BMG_DS058448,"NCI: A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. | MONDO: A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father."
+BMGC_DS15613,BMG_DS058449,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.
+BMGC_DS15614,BMG_DS058450,MONDO: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.
+BMGC_DS15615,BMG_DS058451,MONDO: An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11.
+BMGC_DS15616,BMG_DS058452,MONDO: Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.
+BMGC_DS15617,BMG_DS058453,"SNOMEDCT_US: A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. | MONDO: A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25."
+BMGC_DS15618,BMG_DS058454,"ORPHANET: Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene."
+BMGC_DS15619,BMG_DS058455,"NCI: An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the CALM1 gene, encoding calmodulin-1. | MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene."
+BMGC_DS15620,BMG_DS058456,MONDO: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.
+BMGC_DS15621,BMG_DS058457,MONDO: Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.
+BMGC_DS15622,BMG_DS058458,"ORPHANET: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. | MONDO: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise."
+BMGC_DS15623,BMG_DS058459,
+BMGC_DS15624,BMG_DS058460,
+BMGC_DS15625,BMG_DS058461,"MONDO: Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin."
+BMGC_DS15626,BMG_DS058464,
+BMGC_DS15627,BMG_DS058466,"SNOMEDCT_US: A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. | MONDO: Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated."
+BMGC_DS15628,BMG_DS058469,
+BMGC_DS15629,BMG_DS058470,
+BMGC_DS15630,BMG_DS058472,MONDO: An inherited susceptibility or predisposition to developing exfoliation syndrome.
+BMGC_DS15631,BMG_DS058474,"SNOMEDCT_US: A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukaemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene."
+BMGC_DS15632,BMG_DS058475,"SNOMEDCT_US: An autosomal recessive hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s)."
+BMGC_DS15633,BMG_DS058476,
+BMGC_DS15634,BMG_DS058479,
+BMGC_DS15635,BMG_DS058481,"ORPHANET: A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. | MONDO: Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS."
+BMGC_DS15636,BMG_DS058484,"MONDO: A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV."
+BMGC_DS15637,BMG_DS058485,"MONDO: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances."
+BMGC_DS15638,BMG_DS058487,"MONDO: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF)."
+BMGC_DS15639,BMG_DS058488,
+BMGC_DS15640,BMG_DS058491,
+BMGC_DS15641,BMG_DS058492,MONDO: Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
+BMGC_DS15642,BMG_DS058493,"NCI: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the GTF2H5 gene, encoding general transcription factor IIH subunit 5."
+BMGC_DS15643,BMG_DS058495,
+BMGC_DS15644,BMG_DS058498,"ORPHANET: A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. | MONDO: Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene."
+BMGC_DS15645,BMG_DS058501,
+BMGC_DS15646,BMG_DS058502,MONDO: An inherited susceptibility or predisposition to developing allergic rhinitis.
+BMGC_DS15647,BMG_DS058520,"HPO: A functional anomaly of mitochondria. [https://orcid.org/0000-0001-5208-3432] | MeSH: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
+BMGC_DS15648,BMG_DS058521,"HPO: A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276064]"
+BMGC_DS15649,BMG_DS058522,HPO: A structural abnormality of the central nervous system. [https://orcid.org/0000-0002-0736-9199] | MONDO: A disease involving the central nervous system.
+BMGC_DS15650,BMG_DS058523,HPO: An abnormality of the liver. [https://orcid.org/0000-0002-0736-9199] | MONDO: A disease involving the liver.
+BMGC_DS15651,BMG_DS058525,HPO: An abnormality of the ovary. [https://orcid.org/0000-0002-0736-9199] | MONDO: A disease involving the ovary.
+BMGC_DS15652,BMG_DS058541,"HPO: Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [https://orcid.org/0000-0002-0736-9199, PMID:20514278]"
+BMGC_DS15653,BMG_DS058545,"HPO: Absence of a lobe of the thyroid gland related to a failure of its embryologic development. [https://orcid.org/0000-0002-0538-4547] | MONDO: Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."
+BMGC_DS15654,BMG_DS058554,"HPO: Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. [https://orcid.org/0000-0001-8486-0558, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609]"
+BMGC_DS15655,BMG_DS058558,"HPO: A subtype of skin dimples occurring in the shoulder region. [https://orcid.org/0000-0002-0736-9199, PMID:22679172]"
+BMGC_DS15656,BMG_DS058566,MONDO: A palmoplantar keratosis characterized by keratoses with a \
+BMGC_DS15657,BMG_DS058567,"ORPHANET: Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. | MONDO: Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene."
+BMGC_DS15658,BMG_DS058568,
+BMGC_DS15659,BMG_DS058570,HPO: Muscular atrophy affecting the lower limb. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS15660,BMG_DS058573,"HPO: Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. [https://orcid.org/0000-0002-0736-9199] | MONDO: Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."
+BMGC_DS15661,BMG_DS058574,HPO: Excessive number of small gyri (convolutions) on the surface of one side of the brain. [https://orcid.org/0000-0002-0736-9199] | MONDO: Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.
+BMGC_DS15662,BMG_DS058579,"HPO: A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. [https://orcid.org/0000-0002-0736-9199, PMID:16088500]"
+BMGC_DS15663,BMG_DS058581,HPO: A form of lactic acidemia with congenital onset. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS15664,BMG_DS058582,"HPO: Excessive, increased hair growth located in the elbow region. [https://orcid.org/0000-0002-0736-9199] | MONDO: Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated."
+BMGC_DS15665,BMG_DS058586,"HPO: Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. [https://orcid.org/0000-0002-0736-9199] | MONDO: Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)"
+BMGC_DS15666,BMG_DS058588,"HPO: A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [https://orcid.org/0000-0002-0736-9199] | MONDO: A disease involving the peripheral nervous system."
+BMGC_DS15667,BMG_DS058589,HPO: Any structural abnormality of the choroid. [https://orcid.org/0000-0002-0736-9199] | MONDO: A disease involving the optic choroid.
+BMGC_DS15668,BMG_DS058621,SNOMEDCT_US: Disorder characterised by persistent airflow limitation with several features usually associated with asthma and several features usually associated with COPD; identified by the features that it shares with both asthma and COPD. | MeSH: Syndrome with clinical features of both ASTHMA and COPD.
+BMGC_DS15669,BMG_DS058636,
+BMGC_DS15670,BMG_DS058840,"MeSH: Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)"
+BMGC_DS15671,BMG_DS058948,"MeSH: Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)"
+BMGC_DS15672,BMG_DS058965,
+BMGC_DS15673,BMG_DS059003,"SNOMEDCT_US: A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. | MONDO: Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene."
+BMGC_DS15674,BMG_DS059148,
+BMGC_DS15675,BMG_DS059341,"NCI: A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hypersensitivity, and compensatory hypocalcemia and hypercalciuria. | MONDO: Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistent normal or elevated calciuria."
+BMGC_DS15676,BMG_DS059342,"MONDO: Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. | MeSH: An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation."
+BMGC_DS15677,BMG_DS059343,
+BMGC_DS15678,BMG_DS059344,"HPO: Atrophy of the choroid and retinal layers of the fundus. [https://orcid.org/0000-0002-0736-9199, PMID:20224472]"
+BMGC_DS15679,BMG_DS059348,"NCI: Multiple endocrine neoplasia caused by mutation of the RET gene. It includes the following neoplastic processes: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and hereditary thyroid gland medullary carcinoma. | MONDO: Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC)."
+BMGC_DS15680,BMG_DS059349,MONDO: A primary or metastatic malignant neoplasm involving the cervix.
+BMGC_DS15681,BMG_DS059352,HPO: An increased concentration of methionine in the blood. [HPO_CONTRIBUTOR:gcarletti] | MONDO: An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.
+BMGC_DS15682,BMG_DS059353,ORPHANET: A rare form of juvenile idiopathic arthritis characterized by distal and symmetrical polyarthritis (more than 5 joints) with presence of rheumatoid factor and possible evolution towards the appearance of erosions and joint destruction.
+BMGC_DS15683,BMG_DS059354,"HPO: Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. [https://orcid.org/0000-0002-0736-9199] | MeSH: Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter."
+BMGC_DS15684,BMG_DS059355,
+BMGC_DS15685,BMG_DS059357,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.
+BMGC_DS15686,BMG_DS059359,MONDO: Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.
+BMGC_DS15687,BMG_DS059360,
+BMGC_DS15688,BMG_DS059361,"SNOMEDCT_US: This syndrome has characteristics of hyperlaxity of the skin involving the entire body. It has been described in six patients. The phenotype is linked to a deficiency in vitamin K-dependent clotting factors and the syndrome has been associated with mutations in the GGCX gene. This gene encodes gamma-glutamyl carboxylase, an enzyme that has already been implicated in congenital vitamin K-dependent clotting factor deficiencies. This syndrome should be distinguished from pseudoxanthoma elasticum and cutis laxa in which the excessive skin folding is limited to specific zones."
+BMGC_DS15689,BMG_DS059365,"NCI: A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. | MONDO: A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis."
+BMGC_DS15690,BMG_DS059372,"NCI: Familial glucocorticoid deficiency caused by mutation(s) in the MC2R gene encoding the adrenocorticotropin (ACTH) receptor, also known as the melanocortin-2 receptor. | MONDO: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene."
+BMGC_DS15691,BMG_DS059373,NCI: Familial glucocorticoid deficiency caused by mutation(s) in the MRAP gene encoding the melanocortin-2 receptor accessory protein. | MONDO: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.
+BMGC_DS15692,BMG_DS059378,"NCI: A syndrome characterized by hypoplastic or aplastic anterior pituitary gland, a very thin or interrupted pituitary stalk, and ectopic or absent posterior pituitary gland, which may be associated with mutation(s) in the HESX1 or LHX4 genes. | MONDO: Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk."
+BMGC_DS15693,BMG_DS059381,NCI: Obesity associated with an identifiable mutation in a single gene.
+BMGC_DS15694,BMG_DS059382,NCI: The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue. | MONDO: The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.
+BMGC_DS15695,BMG_DS059384,"NCI: Abnormally low or absent production of glucocorticoids, characterized by unresponsiveness to adrenocorticotropic hormone. It is hereditary and potentially lethal. | MONDO: Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency."
+BMGC_DS15696,BMG_DS059386,NCI: Adrenocorticotropic hormone (ACTH) deficiency due to mutation(s) in the TBX19 gene.
+BMGC_DS15697,BMG_DS059388,"NCI: Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. | MONDO: Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease."
+BMGC_DS15698,BMG_DS059389,NCI: An acute myeloid leukemia in infancy characterized by t(7;12)(q36;p13) and fusion of the homeobox gene HLXB9 (MNX1) with the ETV6 gene.
+BMGC_DS15699,BMG_DS059590,
+BMGC_DS15700,BMG_DS059722,
+BMGC_DS15701,BMG_DS060005,"MONDO: Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. | MeSH: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)"
+BMGC_DS15702,BMG_DS060006,NCI: A congenital or acquired cystic cavity within the cerebral hemisphere.
+BMGC_DS15703,BMG_DS060007,"MONDO: Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly. | MeSH: Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types."
+BMGC_DS15704,BMG_DS060008,"ORPHANET: A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis."
+BMGC_DS15705,BMG_DS060009,"SNOMEDCT_US: Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. | MONDO: Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."
+BMGC_DS15706,BMG_DS060011,"HPO: Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. [https://orcid.org/0000-0002-0736-9199]"
+BMGC_DS15707,BMG_DS060012,MeSH: A general term for the complete loss of the ability to hear from both ears.
+BMGC_DS15708,BMG_DS060013,
+BMGC_DS15709,BMG_DS060017,
+BMGC_DS15710,BMG_DS060018,"NCI: A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. | MONDO: A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract."
+BMGC_DS15711,BMG_DS060019,"MONDO: A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation."
+BMGC_DS15712,BMG_DS060020,MeSH: A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50.
+BMGC_DS15713,BMG_DS060021,"MONDO: A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. | MeSH: An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)"
+BMGC_DS15714,BMG_DS060022,"MONDO: An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene."
+BMGC_DS15715,BMG_DS060023,MONDO: Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene.
+BMGC_DS15716,BMG_DS060025,MeSH: Absence of hair from areas where it is normally present.
+BMGC_DS15717,BMG_DS060026,"MeSH: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene."
+BMGC_DS15718,BMG_DS060027,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene.
+BMGC_DS15719,BMG_DS060028,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.
+BMGC_DS15720,BMG_DS060029,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene.
+BMGC_DS15721,BMG_DS060031,"SNOMEDCT_US: A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, pan modal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated."
+BMGC_DS15722,BMG_DS060032,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene.
+BMGC_DS15723,BMG_DS060033,
+BMGC_DS15724,BMG_DS060034,MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.
+BMGC_DS15725,BMG_DS060035,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene.
+BMGC_DS15726,BMG_DS060036,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene.
+BMGC_DS15727,BMG_DS060037,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene.
+BMGC_DS15728,BMG_DS060039,"ORPHANET: A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated."
+BMGC_DS15729,BMG_DS060040,"MONDO: A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases."
+BMGC_DS15730,BMG_DS060041,
+BMGC_DS15731,BMG_DS060042,
+BMGC_DS15732,BMG_DS060043,
+BMGC_DS15733,BMG_DS060044,
+BMGC_DS15734,BMG_DS060046,"MONDO: A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males. | MeSH: A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50."
+BMGC_DS15735,BMG_DS060047,"MeSH: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)"
+BMGC_DS15736,BMG_DS060048,"MONDO: Inherited retinal dystrophies that belong to the group of pigmentary retinopathies. | MeSH: Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness."
+BMGC_DS15737,BMG_DS060049,
+BMGC_DS15738,BMG_DS060050,"SNOMEDCT_US: Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription."
+BMGC_DS15739,BMG_DS060051,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioral difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or naevi have also been reported."
+BMGC_DS15740,BMG_DS060055,"ORPHANET: Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. | MONDO: The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis."
+BMGC_DS15741,BMG_DS060060,"ORPHANET: A form of primary membranoproliferative glomerulonephritis characterized by the presence in renal biopsy samples of a glomerulonephritis with sole (or at least dominant) glomerular immunofluorescence staining for C3. Non-specific alterations or proliferative patterns with C3-dominant glomerular staining are also possible. Based upon electron microscopic findings, C3 glomerulopathy (C3G) may be further classified as C3 glomerulonephritis (C3GN) or Dense deposit disease (DDD)."
+BMGC_DS15742,BMG_DS060063,"ORPHANET: A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. | MONDO: A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy."
+BMGC_DS15743,BMG_DS060068,MONDO: Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
+BMGC_DS15744,BMG_DS060069,MONDO: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.
+BMGC_DS15745,BMG_DS060070,
+BMGC_DS15746,BMG_DS060071,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.
+BMGC_DS15747,BMG_DS060072,
+BMGC_DS15748,BMG_DS060073,ORPHANET: Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. | MONDO: Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging.
+BMGC_DS15749,BMG_DS060074,
+BMGC_DS15750,BMG_DS060075,
+BMGC_DS15751,BMG_DS060076,"ORPHANET: A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated."
+BMGC_DS15752,BMG_DS060077,MONDO: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene.
+BMGC_DS15753,BMG_DS060078,MONDO: Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.
+BMGC_DS15754,BMG_DS060079,MONDO: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene.
+BMGC_DS15755,BMG_DS060080,MONDO: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.
+BMGC_DS15756,BMG_DS060081,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.
+BMGC_DS15757,BMG_DS060082,MONDO: Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene.
+BMGC_DS15758,BMG_DS060083,MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.
+BMGC_DS15759,BMG_DS060084,
+BMGC_DS15760,BMG_DS060085,MONDO: Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.
+BMGC_DS15761,BMG_DS060086,MONDO: Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.
+BMGC_DS15762,BMG_DS060087,MONDO: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.
+BMGC_DS15763,BMG_DS060088,MONDO: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.
+BMGC_DS15764,BMG_DS060089,"SNOMEDCT_US: A rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32."
+BMGC_DS15765,BMG_DS060090,MONDO: Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene.
+BMGC_DS15766,BMG_DS060091,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed."
+BMGC_DS15767,BMG_DS060092,"ORPHANET: A rare genetic muscular dystrophy characterized by progressive muscle weakness in a scapulo-humero-peroneal and distal distribution, featuring wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, contractures of the Achilles tendon, elbow, and shoulder, and diminished or absent deep tendon reflexes. A predilection for the upper extremities has been reported in some patients. Respiratory muscles are spared until late in the disease course. Age of onset, progression, and severity of the disease vary significantly between individuals. Muscle biopsy shows groups of atrophic type I fibers and increased internal nuclei."
+BMGC_DS15768,BMG_DS060093,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.
+BMGC_DS15769,BMG_DS060094,MONDO: Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.
+BMGC_DS15770,BMG_DS060095,"ORPHANET: A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent."
+BMGC_DS15771,BMG_DS060096,"NCI: An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the VPS13C gene, encoding intermembrane lipid transfer protein VPS13C. | MONDO: Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene."
+BMGC_DS15772,BMG_DS060097,
+BMGC_DS15773,BMG_DS060098,MONDO: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.
+BMGC_DS15774,BMG_DS060099,"ORPHANET: A rare congenital disorder of glycosylation characterized by chronic, non-progressive liver disease, manifesting as mild steatosis with elevated serum transaminases and alkaline phosphatase, hypercholesterolemia, and decreased coagulation factors and ceruloplasmin. Transferrin glycosylation pattern is consistent with a type 2 congenital disorder of glycosylation. Liver biopsy may show mild non-progressive fibrosis. Patients usually remain asymptomatic, although delayed psychomotor development and hypotonia have been reported in single cases."
+BMGC_DS15775,BMG_DS060100,"SNOMEDCT_US: A rare congenital disorder of glycosylation characterised by infantile onset of hepatosplenomegaly, progressive liver failure, hypotonia and global developmental delay. Mild dysmorphic features and seizures have also been reported. Laboratory abnormalities include elevated liver enzymes, mild hypercholesterolaemia and low serum ceruloplasmin."
+BMGC_DS15776,BMG_DS060101,"SNOMEDCT_US: A subtype of autosomal recessive limb girdle muscular dystrophy with characteristics of childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadriparesis, calf hypertrophy, triangular tongue and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration."
+BMGC_DS15777,BMG_DS060102,"ORPHANET: A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia."
+BMGC_DS15778,BMG_DS060103,MONDO: Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene.
+BMGC_DS15779,BMG_DS060104,"MONDO: Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene."
+BMGC_DS15780,BMG_DS060105,"MONDO: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size."
+BMGC_DS15781,BMG_DS060106,
+BMGC_DS15782,BMG_DS060107,MONDO: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.
+BMGC_DS15783,BMG_DS060108,"ORPHANET: A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures."
+BMGC_DS15784,BMG_DS060109,"MONDO: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene."
+BMGC_DS15785,BMG_DS060110,"NCI: An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G."
+BMGC_DS15786,BMG_DS060111,
+BMGC_DS15787,BMG_DS060112,
+BMGC_DS15788,BMG_DS060113,MONDO: Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.
+BMGC_DS15789,BMG_DS060114,MONDO: Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.
+BMGC_DS15790,BMG_DS060115,MONDO: Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.
+BMGC_DS15791,BMG_DS060116,MONDO: Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.
+BMGC_DS15792,BMG_DS060117,
+BMGC_DS15793,BMG_DS060118,MONDO: Any wooly hair in which the cause of the disease is a mutation in the KRT25 gene.
+BMGC_DS15794,BMG_DS060119,"MONDO: Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement."
+BMGC_DS15795,BMG_DS060120,MONDO: Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.
+BMGC_DS15796,BMG_DS060121,
+BMGC_DS15797,BMG_DS060122,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.
+BMGC_DS15798,BMG_DS060123,MONDO: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.
+BMGC_DS15799,BMG_DS060124,"SNOMEDCT_US: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by global developmental delay, intellectual disability, macrothrombocytopenia, lymphoedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes."
+BMGC_DS15800,BMG_DS060125,MONDO: Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.
+BMGC_DS15801,BMG_DS060126,
+BMGC_DS15802,BMG_DS060127,MONDO: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.
+BMGC_DS15803,BMG_DS060128,
+BMGC_DS15804,BMG_DS060129,MONDO: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.
+BMGC_DS15805,BMG_DS060130,"MONDO: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies."
+BMGC_DS15806,BMG_DS060131,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.
+BMGC_DS15807,BMG_DS060132,MONDO: Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene.
+BMGC_DS15808,BMG_DS060133,"SNOMEDCT_US: A rare congenital disorder of glycosylation with characteristics of infantile onset of global developmental delay, severe intellectual disability, hypotonia and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections and osteopenia among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialotransferrin and increased asialotransferrin, monosialotransferrin, disialotransferrin, and trisialotransferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy."
+BMGC_DS15809,BMG_DS060134,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.
+BMGC_DS15810,BMG_DS060135,MONDO: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
+BMGC_DS15811,BMG_DS060136,MONDO: Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.
+BMGC_DS15812,BMG_DS060137,"SNOMEDCT_US: A rare genetic syndromic intellectual disability characterized by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioral problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present."
+BMGC_DS15813,BMG_DS060138,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene.
+BMGC_DS15814,BMG_DS060139,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene.
+BMGC_DS15815,BMG_DS060140,MONDO: Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.
+BMGC_DS15816,BMG_DS060141,
+BMGC_DS15817,BMG_DS060142,"SNOMEDCT_US: A subtype of Charcot-Marie-Tooth disease type 4 with characteristics of childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). | MONDO: SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)."
+BMGC_DS15818,BMG_DS060143,MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.
+BMGC_DS15819,BMG_DS060144,"SNOMEDCT_US: A rare genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. | MONDO: Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects."
+BMGC_DS15820,BMG_DS060145,
+BMGC_DS15821,BMG_DS060146,"SNOMEDCT_US: A rare complex hereditary spastic paraplegia with characteristics of early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene."
+BMGC_DS15822,BMG_DS060147,
+BMGC_DS15823,BMG_DS060148,"ORPHANET: A rare neurometabolic disorder due to serine deficiency characterized by neonatal to infantile onset of global developmental delay, postnatal microcephaly and intellectual disability, which may be associated with slowly progressive spastic tetraplegia mainly affecting the lower extremities, seizures, and brain MRI findings including thin corpus callosum, delayed myelination and cerebral atrophy. Additional symptoms include brisk deep tendon reflexes, extensor plantar responses, behavioral abnormalities (such as irritability, hyperactivity, sleep disorder), abnormal hand movements and stereotypy."
+BMGC_DS15824,BMG_DS060149,"SNOMEDCT_US: A rare partial duplication of the long arm of chromosome 17 with characteristics of a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles and foot deformities. Facial dysmorphism, cardiac and renal anomalies and syringomyelia may also be observed."
+BMGC_DS15825,BMG_DS060150,"ORPHANET: A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal."
+BMGC_DS15826,BMG_DS060151,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.
+BMGC_DS15827,BMG_DS060152,"MONDO: Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades."
+BMGC_DS15828,BMG_DS060153,"SNOMEDCT_US: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, with characteristics of macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge and macrostomia), megalencephaly and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour and cafe-au-lait spots among others. | MONDO: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others."
+BMGC_DS15829,BMG_DS060154,"MONDO: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis."
+BMGC_DS15830,BMG_DS060155,MONDO: Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.
+BMGC_DS15831,BMG_DS060156,MONDO: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.
+BMGC_DS15832,BMG_DS060157,
+BMGC_DS15833,BMG_DS060158,"MONDO: An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."
+BMGC_DS15834,BMG_DS060159,MONDO: Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene.
+BMGC_DS15835,BMG_DS060160,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip and pointed chin) hyperelastic, thin and fragile skin, lipodystrophy and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation and cerebrovascular complications among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies."
+BMGC_DS15836,BMG_DS060161,MONDO: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene.
+BMGC_DS15837,BMG_DS060162,"ORPHANET: A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes."
+BMGC_DS15838,BMG_DS060163,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities."
+BMGC_DS15839,BMG_DS060164,"ORPHANET: A rare genetic disease characterized by microcephaly, global developmental delay, intellectual disability, abnormal muscle tone, and sensorineural hearing impairment. Additional variable manifestations include epilepsy, cortical visual impairment, gastrointestinal disturbances, growth restriction, scoliosis, as well as immunodeficiency and thrombocytopenia. Brain imaging may show cerebral atrophy, thin corpus callosum, and hypomyelination."
+BMGC_DS15840,BMG_DS060165,MONDO: Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.
+BMGC_DS15841,BMG_DS060166,MONDO: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene.
+BMGC_DS15842,BMG_DS060167,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1. | MONDO: Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene."
+BMGC_DS15843,BMG_DS060168,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.
+BMGC_DS15844,BMG_DS060169,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the SOS2 gene, encoding son of sevenless homolog 2. | MONDO: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene."
+BMGC_DS15845,BMG_DS060170,
+BMGC_DS15846,BMG_DS060171,"NCI: Dyskeratosis congenita caused by mutation(s) in the ACD gene, encoding adrenocortical dysplasia protein homolog. | MONDO: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1."
+BMGC_DS15847,BMG_DS060172,"ORPHANET: A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported."
+BMGC_DS15848,BMG_DS060173,MONDO: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
+BMGC_DS15849,BMG_DS060174,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.
+BMGC_DS15850,BMG_DS060175,
+BMGC_DS15851,BMG_DS060176,"ORPHANET: A rare, genetic, neurological disorder characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts, and simplified gyration (frontally). | MONDO: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene."
+BMGC_DS15852,BMG_DS060177,
+BMGC_DS15853,BMG_DS060178,"MONDO: Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene."
+BMGC_DS15854,BMG_DS060179,"MONDO: Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene."
+BMGC_DS15855,BMG_DS060180,MONDO: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene.
+BMGC_DS15856,BMG_DS060181,
+BMGC_DS15857,BMG_DS060182,"NCI: An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features. | MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene."
+BMGC_DS15858,BMG_DS060183,MONDO: Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.
+BMGC_DS15859,BMG_DS060184,MONDO: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene.
+BMGC_DS15860,BMG_DS060185,MONDO: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene.
+BMGC_DS15861,BMG_DS060186,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.
+BMGC_DS15862,BMG_DS060187,MONDO: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.
+BMGC_DS15863,BMG_DS060188,MONDO: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.
+BMGC_DS15864,BMG_DS060189,MONDO: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
+BMGC_DS15865,BMG_DS060190,MONDO: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.
+BMGC_DS15866,BMG_DS060191,MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.
+BMGC_DS15867,BMG_DS060192,
+BMGC_DS15868,BMG_DS060193,"SNOMEDCT_US: A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration and proprioception are normal. | MONDO: A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34."
+BMGC_DS15869,BMG_DS060194,
+BMGC_DS15870,BMG_DS060195,
+BMGC_DS15871,BMG_DS060196,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.
+BMGC_DS15872,BMG_DS060197,MONDO: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.
+BMGC_DS15873,BMG_DS060198,
+BMGC_DS15874,BMG_DS060199,MONDO: Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.
+BMGC_DS15875,BMG_DS060200,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.
+BMGC_DS15876,BMG_DS060201,MONDO: Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene.
+BMGC_DS15877,BMG_DS060202,MONDO: Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.
+BMGC_DS15878,BMG_DS060203,MONDO: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.
+BMGC_DS15879,BMG_DS060204,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.
+BMGC_DS15880,BMG_DS060205,"ORPHANET: A rare congenital disorder of glycosylation caused by mutations in the &lt;i&gt;CAD&lt;/i&gt; gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood."
+BMGC_DS15881,BMG_DS060206,MONDO: Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.
+BMGC_DS15882,BMG_DS060207,"SNOMEDCT_US: A rare genetic intellectual disability syndrome with characteristics of severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract and naevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum among others. The syndrome is caused by homozygous variants in the MED25 gene (19q13.33), coding for a component of the mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. Transmission is autosomal recessive."
+BMGC_DS15883,BMG_DS060208,MONDO: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene.
+BMGC_DS15884,BMG_DS060209,MONDO: An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.
+BMGC_DS15885,BMG_DS060210,MONDO: An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.
+BMGC_DS15886,BMG_DS060211,MONDO: A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.
+BMGC_DS15887,BMG_DS060212,"NCI: An autosomal recessive combined immunodeficiency caused by mutation(s) in the DOCK2 gene, encoding dedicator of cytokinesis protein 2. It is characterized by combined immunodeficiency, primarily affecting T-cells, with more variable defects in B-cell and NK-cell function, resulting in viral and bacterial infections that may lead to death in severe cases."
+BMGC_DS15888,BMG_DS060213,"MONDO: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene."
+BMGC_DS15889,BMG_DS060214,
+BMGC_DS15890,BMG_DS060215,"ORPHANET: PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. | MONDO: Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene."
+BMGC_DS15891,BMG_DS060216,
+BMGC_DS15892,BMG_DS060217,MONDO: Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene.
+BMGC_DS15893,BMG_DS060218,"ORPHANET: A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive. | MONDO: Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene."
+BMGC_DS15894,BMG_DS060219,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.
+BMGC_DS15895,BMG_DS060220,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.
+BMGC_DS15896,BMG_DS060221,
+BMGC_DS15897,BMG_DS060222,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.
+BMGC_DS15898,BMG_DS060223,MONDO: Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.
+BMGC_DS15899,BMG_DS060224,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.
+BMGC_DS15900,BMG_DS060225,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene.
+BMGC_DS15901,BMG_DS060226,"NCI: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC3 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPB."
+BMGC_DS15902,BMG_DS060227,MONDO: A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.
+BMGC_DS15903,BMG_DS060228,"MONDO: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene."
+BMGC_DS15904,BMG_DS060229,"MONDO: Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene."
+BMGC_DS15905,BMG_DS060230,"ORPHANET: A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia. | MONDO: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene."
+BMGC_DS15906,BMG_DS060231,"ORPHANET: A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. | MONDO: A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia."
+BMGC_DS15907,BMG_DS060232,"NCI: An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the KCNA2 gene, encoding potassium voltage-gated channel subfamily A member 2. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene."
+BMGC_DS15908,BMG_DS060233,"SNOMEDCT_US: Syndrome with manifestations of borderline normal to severe intellectual disability. Most affected individuals have autism spectrum disorder (ASD), which can occur with characteristics that are unusual in people with ASD, such as an overly friendly demeanor. Other characteristics include delayed development, microcephaly, brachycephaly, hypertelorism, midface hypoplasia, small mouth with a thin upper lip. Diaphragmatic hernia is present in some cases. Caused by mutations in the POGZ gene. POGZ gene mutations are thought to impair the ability of the POGZ protein to bind to chromatin, leading to abnormal gene expression that affects development of the brain and other body systems. May be inherited in an autosomal dominant pattern, however most cases result from de novo mutations in the gene. | MONDO: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)."
+BMGC_DS15909,BMG_DS060234,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others."
+BMGC_DS15910,BMG_DS060235,MONDO: Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.
+BMGC_DS15911,BMG_DS060236,"ORPHANET: A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported."
+BMGC_DS15912,BMG_DS060237,"NCI: Dyskeratosis congenita caused by autosomal recessive mutation(s) in the PARN gene, encoding poly(A)-specific ribonuclease PARN. | MONDO: Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene."
+BMGC_DS15913,BMG_DS060238,"NCI: An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the DNM1 gene, encoding dynamin-1. | MONDO: Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene."
+BMGC_DS15914,BMG_DS060239,"ORPHANET: A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur. | MONDO: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene."
+BMGC_DS15915,BMG_DS060240,
+BMGC_DS15916,BMG_DS060241,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.
+BMGC_DS15917,BMG_DS060242,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.
+BMGC_DS15918,BMG_DS060243,MONDO: Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.
+BMGC_DS15919,BMG_DS060244,MONDO: Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.
+BMGC_DS15920,BMG_DS060245,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.
+BMGC_DS15921,BMG_DS060246,MONDO: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene.
+BMGC_DS15922,BMG_DS060247,"NCI: An autosomal recessive condition caused by mutation(s) in the RAPSN gene, encoding 43 kDa receptor-associated protein of the synapse. It is characterized by postsynaptic neuromuscular junction dysfunction resulting in muscle weakness of variable severity. | MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene."
+BMGC_DS15923,BMG_DS060248,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.
+BMGC_DS15924,BMG_DS060249,"MONDO: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
+BMGC_DS15925,BMG_DS060250,"MONDO: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37."
+BMGC_DS15926,BMG_DS060251,MONDO: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
+BMGC_DS15927,BMG_DS060252,MONDO: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.
+BMGC_DS15928,BMG_DS060253,"MONDO: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
+BMGC_DS15929,BMG_DS060254,"MONDO: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
+BMGC_DS15930,BMG_DS060255,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.
+BMGC_DS15931,BMG_DS060256,MONDO: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.
+BMGC_DS15932,BMG_DS060257,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.
+BMGC_DS15933,BMG_DS060258,MONDO: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.
+BMGC_DS15934,BMG_DS060259,
+BMGC_DS15935,BMG_DS060260,MONDO: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene.
+BMGC_DS15936,BMG_DS060261,"ORPHANET: A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis."
+BMGC_DS15937,BMG_DS060262,MONDO: Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.
+BMGC_DS15938,BMG_DS060263,"ORPHANET: A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients."
+BMGC_DS15939,BMG_DS060264,
+BMGC_DS15940,BMG_DS060265,MONDO: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.
+BMGC_DS15941,BMG_DS060266,MONDO: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.
+BMGC_DS15942,BMG_DS060267,
+BMGC_DS15943,BMG_DS060268,MONDO: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.
+BMGC_DS15944,BMG_DS060269,MONDO: Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.
+BMGC_DS15945,BMG_DS060270,"NCI: An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes."
+BMGC_DS15946,BMG_DS060271,"SNOMEDCT_US: A rare disorder with characteristics of neurological problems and neutropenia. Onset of symptoms is in early childhood and severity varies widely among affected individuals. In the most severely affected individuals, features are apparent in infancy and sometimes at birth. Associated with congenital cataracts or cataracts in infancy. The disease is caused by mutations in the CLPB gene which is likely to reduce or eliminate the amount of functional CLPB protein. The severity of the disease may be related to the amount of functional protein that remains. Inherited in an autosomal recessive pattern."
+BMGC_DS15947,BMG_DS060272,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.
+BMGC_DS15948,BMG_DS060273,"ORPHANET: A rare genetic syndromic intellectual disability characterized by global developmental delay, moderate to severe intellectual disability, motor and language impairment, behavioral abnormalities (with mood instability, aggression, and self-mutilation), and progressive hand tremor. Facial dysmorphism includes narrow palpebral fissures, large ears, long philtrum, and prominent chin."
+BMGC_DS15949,BMG_DS060274,"ORPHANET: A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described. | MONDO: A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described."
+BMGC_DS15950,BMG_DS060275,"ORPHANET: A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen. | MONDO: Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene."
+BMGC_DS15951,BMG_DS060276,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. | MONDO: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases."
+BMGC_DS15952,BMG_DS060277,
+BMGC_DS15953,BMG_DS060278,"ORPHANET: A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis."
+BMGC_DS15954,BMG_DS060279,"MONDO: Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488)."
+BMGC_DS15955,BMG_DS060280,
+BMGC_DS15956,BMG_DS060281,
+BMGC_DS15957,BMG_DS060282,MONDO: A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.
+BMGC_DS15958,BMG_DS060283,MONDO: Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.
+BMGC_DS15959,BMG_DS060284,MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.
+BMGC_DS15960,BMG_DS060285,
+BMGC_DS15961,BMG_DS060286,MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.
+BMGC_DS15962,BMG_DS060287,"ORPHANET: Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. | MONDO: Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows."
+BMGC_DS15963,BMG_DS060288,"MONDO: A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."
+BMGC_DS15964,BMG_DS060289,
+BMGC_DS15965,BMG_DS060290,
+BMGC_DS15966,BMG_DS060291,MONDO: Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.
+BMGC_DS15967,BMG_DS060292,"MONDO: Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported."
+BMGC_DS15968,BMG_DS060293,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal, and cardiovascular anomalies have also been described. | MONDO: Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene."
+BMGC_DS15969,BMG_DS060294,MONDO: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.
+BMGC_DS15970,BMG_DS060295,MONDO: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.
+BMGC_DS15971,BMG_DS060296,MONDO: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.
+BMGC_DS15972,BMG_DS060297,MONDO: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.
+BMGC_DS15973,BMG_DS060298,
+BMGC_DS15974,BMG_DS060299,"ORPHANET: A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. | MONDO: A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity."
+BMGC_DS15975,BMG_DS060300,
+BMGC_DS15976,BMG_DS060301,
+BMGC_DS15977,BMG_DS060302,MONDO: Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.
+BMGC_DS15978,BMG_DS060303,MONDO: Autosomal dominant form of sideroblastic anemia.
+BMGC_DS15979,BMG_DS060304,"SNOMEDCT_US: A form of Ehlers-Danlos syndrome that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. | MONDO: Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility."
+BMGC_DS15980,BMG_DS060305,
+BMGC_DS15981,BMG_DS060306,
+BMGC_DS15982,BMG_DS060307,
+BMGC_DS15983,BMG_DS060308,
+BMGC_DS15984,BMG_DS060309,
+BMGC_DS15985,BMG_DS060310,
+BMGC_DS15986,BMG_DS060311,
+BMGC_DS15987,BMG_DS060312,"ORPHANET: 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. | MONDO: 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed."
+BMGC_DS15988,BMG_DS060313,
+BMGC_DS15989,BMG_DS060314,MONDO: Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.
+BMGC_DS15990,BMG_DS060315,
+BMGC_DS15991,BMG_DS060317,
+BMGC_DS15992,BMG_DS060318,
+BMGC_DS15993,BMG_DS060320,
+BMGC_DS15994,BMG_DS060331,
+BMGC_DS15995,BMG_DS060339,"MONDO: 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive."
+BMGC_DS15996,BMG_DS060341,"ORPHANET: A rare multiple congenital anomalies characterized by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. | MONDO: VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."
+BMGC_DS15997,BMG_DS060394,"SNOMEDCT_US: A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait."
+BMGC_DS15998,BMG_DS060396,"MeSH: Impairment of the vestibular function of both inner ears which can cause difficulties with balance, gait, VERTIGO, and visual blurring."
+BMGC_DS15999,BMG_DS060614,
+BMGC_DS16000,BMG_DS060659,
+BMGC_DS16001,BMG_DS060756,"NCI: An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. | MONDO: An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration."
+BMGC_DS16002,BMG_DS060760,"SNOMEDCT_US: A rare genetic multiple congenital anomalies syndrome with characteristics of second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). | MONDO: Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)."
+BMGC_DS16003,BMG_DS060773,"SNOMEDCT_US: A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately 593 kb at chromosomal coordinates 29.5-30.1 Mb comprising 24 genes. The relationship between genotype and clinical phenotype remains elusive."
+BMGC_DS16004,BMG_DS060776,"SNOMEDCT_US: Characterised by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apnoeic spells within hours after birth accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis."
+BMGC_DS16005,BMG_DS060779,"SNOMEDCT_US: A permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q). | MONDO: Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary."
+BMGC_DS16006,BMG_DS060785,"SNOMEDCT_US: Nephrotic syndrome with often-early onset defined by severe proteinuria with low serum albumin and possible oedema. This disease is rare but severe as it usually progresses to end-stage renal failure. Mutations in the NPHS2 gene (chromosome 1q25-q31 and encoding podocine) have been found to be involved in autosomal recessive forms of the disease. Mutations in the podocine gene have also been detected in later-onset forms and in apparently sporadic forms. Mutations in the ACTN4 gene, coding for alpha-actinine 4, have been reported in autosomal dominant forms. Familial forms of idiopathic steroid-resistant nephrotic syndrome do not respond to any treatment with steroids or immunosuppressive drugs and the disease progress to terminal renal failure. | MONDO: Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset."
+BMGC_DS16007,BMG_DS060786,SNOMEDCT_US: A very rare mitochondrial disease with clinical characteristic of cardioencephalomyopathy resulting in death in infancy. | MONDO: Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.
+BMGC_DS16008,BMG_DS060787,"SNOMEDCT_US: Congenital multiple pituitary hormone deficiency including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Rare when compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. Clinical presentation is variable, depending on the type and severity of deficiencies and on the age at diagnosis. If untreated, main symptoms include short stature, cognitive alterations or delayed puberty. Due to mutations of several genes encoding pituitary transcription factors. A diagnosis must be suspected when evident causes of hypopituitarism have been ruled out. Type of transmission varies with the factor and the mutation involved. | MONDO: Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy."
+BMGC_DS16009,BMG_DS060788,"NCI: A defect in any step of the biochemical pathway leading to production of thyroid hormones. | MONDO: A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis."
+BMGC_DS16010,BMG_DS060794,"SNOMEDCT_US: Fetal iodine syndrome is a group of symptoms that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (excessive or insufficient) amounts of iodine, a nonmetallic halogen element. Maternal iodine can be readily transferred to the fetus, and chronic maternal exposure to iodine can lead to hypothyroidism and goitre in the offspring. The majority of the reported fatalities caused by iodine intoxication resulted from the use of iodine-containing expectorants during pregnancy. Based on these observations, the repeated or routine use of iodine-containing products is not recommended during pregnancy. In addition to the problems associated with iodine intoxication, iodine deficiency during pregnancy may be severe enough to produce hypothyroidism in the fetus. | MONDO: Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH)."
+BMGC_DS16011,BMG_DS060796,"SNOMEDCT_US: A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies. | MONDO: 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies."
+BMGC_DS16012,BMG_DS060798,"SNOMEDCT_US: Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. Both partial and total PAI-1 deficiencies are extremely rare disorders. PAI-1 is the physiological inhibitor of tissue-type plasminogen activator (t-PA), the main source of intravascular fibrinolysis. Affected patients carry one (heterozygote) or two (homozygote) alleles with a mutation in the SERPINE1 gene (7q22.1), resulting in partial or total antigenic PAI-1 deficiency. Transmitted as autosomal recessive traits."
+BMGC_DS16013,BMG_DS060803,"SNOMEDCT_US: Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake. | MONDO: Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function."
+BMGC_DS16014,BMG_DS060812,"SNOMEDCT_US: An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. Not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. Inherited as an autosomal dominant trait. The prognosis is excellent most patients remain asymptomatic."
+BMGC_DS16015,BMG_DS060816,"SNOMEDCT_US: The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. | MONDO: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive."
+BMGC_DS16016,BMG_DS060817,"SNOMEDCT_US: An inherited epileptic syndrome characterised by cortical hand tremors, myoclonic jerks and occasional generalised or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. Usually presents in the second decade of life with a minor cortical hand tremor. Mapped to at least 4 different chromosomal loci. Transmitted autosomal dominantly and penetrance is high | MONDO: Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia."
+BMGC_DS16017,BMG_DS060820,"SNOMEDCT_US: This syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. | MONDO: Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child."
+BMGC_DS16018,BMG_DS060821,"SNOMEDCT_US: A form of diazoxide-sensitive diffuse hyperinsulinism caused by a lowered threshold for insulin release. Characterized by excessive/uncontrolled insulin secretion and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Activating mutations of GCK (7p15.3-p15.1) that encodes glucokinase have been identified as the cause."
+BMGC_DS16019,BMG_DS060824,"SNOMEDCT_US: Describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively. | MONDO: Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders."
+BMGC_DS16020,BMG_DS060825,"SNOMEDCT_US: A non-syndromic, microcytic/hypochromic sideroblastic anaemia, present from early infancy and characterised by severe microcytic anaemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterised individuals have been reported. Clinical features are those of anaemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycaemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. | MONDO: Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin."
+BMGC_DS16021,BMG_DS060826,"SNOMEDCT_US: A form of diazoxide-sensitive diffuse hyperinsulinism characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia, responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1. The disease frequently presents as neonatal hypoglycemia. All patients are responsive to medical management with diazoxide. Family history of diabetes is usually, but not always present. Caused by mutations in HNF4A gene (20q13.12). The transmission is autosomal dominant with variable penetrance. | MONDO: Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1)."
+BMGC_DS16022,BMG_DS060828,"SNOMEDCT_US: A form of diazoxide-sensitive diffuse hyperinsulinism characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations. | MONDO: Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism)."
+BMGC_DS16023,BMG_DS060829,"SNOMEDCT_US: A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Usually has a milder phenotype when compared to that resulting from recessive K+ channel mutations. | MONDO: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism)."
+BMGC_DS16024,BMG_DS060832,"SNOMEDCT_US: An autosomal recessive leucodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Prevalence is unknown. It is characterised by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leucodystrophy on magnetic resonance imaging. | MONDO: Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD)."
+BMGC_DS16025,BMG_DS060833,"SNOMEDCT_US: Refers to cases of recessive X-linked ichthyosis (RXLI) that are associated with extracutaneous manifestations as part of a syndrome. It affects almost exclusively males. Cutaneous manifestations include hyperkeratosis and scaling of the skin. Non cutaneous manifestations may be corneal opacity, late puberty, cryptorchidism and a higher frequency of testicular cancer. Manifestations due to contiguous gene syndrome include neurological abnormalities such as epilepsy and hyposmia, intellectual deficit and/or short stature. Transmission is X-linked recessive. | MONDO: Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome."
+BMGC_DS16026,BMG_DS060834,"SNOMEDCT_US: A rare subtype of Joubert syndrome with manifestation of the neurological features of Joubert Syndrome associated with renal disease, in the absence of retinopathy. Prevalence is unknown. In most cases the renal disease manifests as juvenile nephronophthisis, with onset of clinical symptoms in the late first/early second decade of life, although in rare cases there may be infantile nephronophthisis, with onset in the first years of life. The most commonly mutated genes in this subtype are NPHP1 (2q13) and RPGRIP1L (16q12.2) with autosomal recessive inheritance."
+BMGC_DS16027,BMG_DS060835,"SNOMEDCT_US: The most frequent subtype of Joubert syndrome with manifestation of neurological features of Joubert Syndrome associated with retinal dystrophy. Prevalence is unknown. Age of onset and severity of retinal involvement are variable, ranging from congenital to progressive retinopathy with partial conservation of vision. To date, the most frequently mutated gene in this subtype is AHI1 (6q23.2), which accounts for about 20% of cases, following autosomal recessive inheritance. | MONDO: Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy."
+BMGC_DS16028,BMG_DS060843,"SNOMEDCT_US: An extremely rare type of severe combined immunodeficiency characterized by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionizing radiation."
+BMGC_DS16029,BMG_DS060847,"SNOMEDCT_US: A severe form of microphthalmia with characteristics of a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Nanophthalmia is generally bilateral. Strabism is present in most patients. Mutations in the MFRP gene (11q23.1) have been found to be responsible for the hereditary form with recessive transmission. Chromosomal anomalies involving chromosome 11p and 2q11-14 have been identified for autosomal dominant forms of nanophthalmia. It may be inherited as an autosomal dominant or recessive trait, or may occur sporadically. | MONDO: Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma."
+BMGC_DS16030,BMG_DS060853,"SNOMEDCT_US: A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. Inherited in an autosomal recessive manner."
+BMGC_DS16031,BMG_DS060855,"SNOMEDCT_US: A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history."
+BMGC_DS16032,BMG_DS060858,"SNOMEDCT_US: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. | MONDO: An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers."
+BMGC_DS16033,BMG_DS060861,"SNOMEDCT_US: FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Prevalence is unknown. The FRAXF fragile site is located at Xq28 within the 5'UTR of the TMEM185A gene. | MONDO: FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established."
+BMGC_DS16034,BMG_DS060863,"SNOMEDCT_US: Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more."
+BMGC_DS16035,BMG_DS060865,ORPHANET: Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate.
+BMGC_DS16036,BMG_DS060872,"SNOMEDCT_US: A form of Parkinson disease with age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non-motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia. The exact etiology is still unknown but mutations in the genes SNCA (4q21.3-q22), LRRK2 (12q12), and VPS35 (16q12) have been implicated in its pathogenesis. Transmission is autosomal dominant."
+BMGC_DS16037,BMG_DS060910,"SNOMEDCT_US: A very rare and mild form of spondylocostal dysostosis with characteristics of vertebral and costal segmentation defects, often with a reduction in the number of ribs. | MONDO: Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs."
+BMGC_DS16038,BMG_DS060918,"SNOMEDCT_US: A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner."
+BMGC_DS16039,BMG_DS060920,"SNOMEDCT_US: An extremely rare fatal central nervous system malformation occurring during embryogenesis presenting prenatally on the ultrasound with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures, intrauterine growth restriction. An X-linked recessive inheritance has been suggested."
+BMGC_DS16040,BMG_DS060928,"SNOMEDCT_US: This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13."
+BMGC_DS16041,BMG_DS060935,"SNOMEDCT_US: A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback."
+BMGC_DS16042,BMG_DS060943,"SNOMEDCT_US: Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks. | MONDO: Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms."
+BMGC_DS16043,BMG_DS060955,"ORPHANET: Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (&gt;-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F. | MONDO: Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F."
+BMGC_DS16044,BMG_DS060957,"SNOMEDCT_US: A form of potassium-aggravated myotonia which shows dramatic improvement with the use of acetazolamide. Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that is triggered by potassium ingestion, fasting and mildly by cold exposure and exercise. Muscle stiffness is generally painful. Acetazolamide-responsive myotonia is a sodium muscle channelopathy due to missense mutations of the SCN4A gene, encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. | MONDO: Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ)."
+BMGC_DS16045,BMG_DS060958,"SNOMEDCT_US: A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''doublecortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations."
+BMGC_DS16046,BMG_DS060962,"SNOMEDCT_US: A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. | MONDO: Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy."
+BMGC_DS16047,BMG_DS060963,"SNOMEDCT_US: A congenital enteropathy presenting with early-onset severe intractable diarrhea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhea within the first days after birth and the diarrhea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or esophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified."
+BMGC_DS16048,BMG_DS060964,"ORPHANET: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk."
+BMGC_DS16049,BMG_DS060967,"SNOMEDCT_US: A severely disabling disease with manifestation of progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. Familial forms appear to be very rare, with only three families identified so far. Age of onset in these familial cases ranges from 15-48. Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members. | MONDO: Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty."
+BMGC_DS16050,BMG_DS060968,"SNOMEDCT_US: Hereditary transthyretin related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Prevalence is unknown, patients present during adulthood with restrictive cardiomyopathy. Over 80 pathogenetic mutations in the TTR gene (18q12.1) have been reported so far. Transmitted as an autosomal dominant trait. | MONDO: A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein."
+BMGC_DS16051,BMG_DS060970,"ORPHANET: A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes."
+BMGC_DS16052,BMG_DS060971,"SNOMEDCT_US: Refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome but that do not carry WRN gene mutations. Similar to classical Werner Syndrome caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Compared to Werner Syndrome, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. | MONDO: A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population."
+BMGC_DS16053,BMG_DS060984,
+BMGC_DS16054,BMG_DS060986,MONDO: An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.
+BMGC_DS16055,BMG_DS060987,"SNOMEDCT_US: A form of Parkinson disease with age of onset between 21 and 45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints, falls and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms. The exact aetiology is still unknown. Gene mutations have been implicated in some cases, most cases are sporadic however familial cases have been reported in which an autosomal recessive mode of inheritance has been suggested. | MONDO: A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms."
+BMGC_DS16056,BMG_DS060989,"SNOMEDCT_US: Congenital lactic acidosis is defined by the presence of a metabolic acidosis due to the accumulation of lactic acid in blood. Congenital defects of any one of the multiple enzymatic steps of pyruvate utilization induce accumulation of pyruvate and lactate, but usually to levels that do not provoke metabolic acidosis. Lactic acidosis is therefore an extreme situation, due either to very severe defects or to acute metabolic crisis associated with less severe defects. It occurs mostly in neonates or very young infants, with polypnea, severe hypotonia, lethargy, and vomiting, after a silent period during which the children were considered as normal. Facial dysmorphism and cerebral malformations may be noted, as well as diverse organ involvement such as hypertrophic myocardiopathy, tubulopathy, or liver insufficiency."
+BMGC_DS16057,BMG_DS060990,"ORPHANET: A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated."
+BMGC_DS16058,BMG_DS060994,"ORPHANET: Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated."
+BMGC_DS16059,BMG_DS061002,"MeSH: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment."
+BMGC_DS16060,BMG_DS061003,"MONDO: A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. | MeSH: Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys."
+BMGC_DS16061,BMG_DS061005,"MeSH: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment."
+BMGC_DS16062,BMG_DS061162,MONDO: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene.
+BMGC_DS16063,BMG_DS061164,"NCI: A common generalized epilepsy syndrome occurring in children, characterized by absence seizures of short duration. The cause of the syndrome is presumed to be genetic. Genes which are associated with the condition include GABRB3, GABRG2, GABRA1, CACNA1H, and ECA1. | MONDO: A familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis. | MeSH: A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)"
+BMGC_DS16064,BMG_DS061167,
+BMGC_DS16065,BMG_DS061168,
+BMGC_DS16066,BMG_DS061169,"MONDO: A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations."
+BMGC_DS16067,BMG_DS061170,
+BMGC_DS16068,BMG_DS061171,"SNOMEDCT_US: Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32."
+BMGC_DS16069,BMG_DS061174,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene.
+BMGC_DS16070,BMG_DS061175,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.
+BMGC_DS16071,BMG_DS061177,"NCI: An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. | MONDO: An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy."
+BMGC_DS16072,BMG_DS061178,MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.
+BMGC_DS16073,BMG_DS061180,MONDO: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene.
+BMGC_DS16074,BMG_DS061181,"SNOMEDCT_US: A pure or complex form of hereditary spastic paraplegia with characteristics of onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia and flexion contractures of the knees in some. | MONDO: Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some."
+BMGC_DS16075,BMG_DS061182,"ORPHANET: A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachyplagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of &lt;i&gt;KIDINS220&lt;/i&gt; associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported."
+BMGC_DS16076,BMG_DS061183,
+BMGC_DS16077,BMG_DS061184,
+BMGC_DS16078,BMG_DS061185,"NCI: An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death. | MONDO: An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death."
+BMGC_DS16079,BMG_DS061186,MONDO: Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.
+BMGC_DS16080,BMG_DS061188,"MeSH: A reperfusion syndrome characterized by various pathophysiological processes after CARDIAC ARREST.  It may include post-cardiac arrest brain injury (HYPOXIA-ISCHEMIA, BRAIN), cardiocirculatory dysfunction, (e.g., systemic ISCHEMIA), HYPERGLYCEMIA; MULTIPLE ORGAN FAILURE and delayed death. | MeSH: A reperfusion syndrome characterized by various pathophysiological processes after CARDIAC ARREST. It may include post-cardiac arrest brain injury (HYPOXIA-ISCHEMIA, BRAIN), cardiocirculatory dysfunction, (e.g., systemic ISCHEMIA), HYPERGLYCEMIA; MULTIPLE ORGAN FAILURE and delayed death."
+BMGC_DS16081,BMG_DS061194,NCI: A keratoacanthoma that arises from the vulva. It grows rapidly and may regress spontaneously. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior.
+BMGC_DS16082,BMG_DS061202,NCI: A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. | MONDO: A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.
+BMGC_DS16083,BMG_DS061205,NCI: A supratentorial ependymoma characterized by a gene fusion involving ZFTA and RELA genes. It accounts for the majority of supratentorial ependymomas in children. It has an unfavorable outcome when compared to other ependymoma subtypes.
+BMGC_DS16084,BMG_DS061206,NCI: A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. | MONDO: A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.
+BMGC_DS16085,BMG_DS061207,NCI: A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. | MONDO: A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.
+BMGC_DS16086,BMG_DS061211,NCI: A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern. | MONDO: A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern.
+BMGC_DS16087,BMG_DS061216,"NCI: A disorder characterized by abnormal inflammation of various tissues, particularly the blood vessels, with intermittent. fevers, areas of net-like, mottled skin discoloration (livedo racemosa), hepatosplenomegaly, and recurrent strokes. | MONDO: Any disease or disorder in which the cause of the disease is a mutation in the ADA2 gene."
+BMGC_DS16088,BMG_DS061217,"NCI: An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause. | MONDO: An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause."
+BMGC_DS16089,BMG_DS061223,
+BMGC_DS16090,BMG_DS061237,
+BMGC_DS16091,BMG_DS061239,
+BMGC_DS16092,BMG_DS061240,
+BMGC_DS16093,BMG_DS061241,
+BMGC_DS16094,BMG_DS061242,
+BMGC_DS16095,BMG_DS061246,
+BMGC_DS16096,BMG_DS061252,
+BMGC_DS16097,BMG_DS061277,
+BMGC_DS16098,BMG_DS061339,
+BMGC_DS16099,BMG_DS061349,
+BMGC_DS16100,BMG_DS061350,
+BMGC_DS16101,BMG_DS061370,"SNOMEDCT_US: A rare genetic intestinal disease with the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. There is evidence this disease is caused by heterozygous mutation in the RNF43 gene on chromosome 17q22. | MONDO: Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer."
+BMGC_DS16102,BMG_DS061500,"ORPHANET: A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed."
+BMGC_DS16103,BMG_DS061566,"SNOMEDCT_US: A rare haematological disorder, seen almost exclusively in males, characterised by moderate to severe thrombocytopenia with haemorrhages with or without the presence of mild to severe anaemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders. | MONDO: Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia."
+BMGC_DS16104,BMG_DS061576,SNOMEDCT_US: An extremely rare autosomal dominant association reported in a single Swiss family with clinical characteristics of juvenile cataract associated with bilateral microcornea and renal glucosuria without other renal tubular defects.
+BMGC_DS16105,BMG_DS061579,"SNOMEDCT_US: A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported. | MONDO: Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails."
+BMGC_DS16106,BMG_DS061580,"SNOMEDCT_US: A rare skeletal dysplasia with characteristics of anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. | MONDO: Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry."
+BMGC_DS16107,BMG_DS061589,"SNOMEDCT_US: An extremely rare autosomal recessive disorder with characteristics of bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears) and strabismus. | MONDO: Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus."
+BMGC_DS16108,BMG_DS061599,"SNOMEDCT_US: Syndrome with the association of Charcot-Marie-Tooth disease and nephropathy. So far, around 15 cases have been described. All patients had proteinuria at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. Caused by heterozygous mutation in the INF2 gene on chromosome 14q32. | MONDO: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown."
+BMGC_DS16109,BMG_DS061600,"SNOMEDCT_US: A polymorphic disorder with characteristics of ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Disease onset occurs in adulthood from the ages of 30-40. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging. Caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells."
+BMGC_DS16110,BMG_DS061601,"SNOMEDCT_US: A form of amyloidosis with characteristics of the accumulation and extensive visceral deposition of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. | MONDO: A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy."
+BMGC_DS16111,BMG_DS061602,"SNOMEDCT_US: An extremely rare autosomal dominant immunological disorder with characteristics of variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty and osteoporosis/osteopenia."
+BMGC_DS16112,BMG_DS061607,"SNOMEDCT_US: An extremely rare and fatal association syndrome with characteristics of absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline, agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis."
+BMGC_DS16113,BMG_DS061608,"SNOMEDCT_US: A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene."
+BMGC_DS16114,BMG_DS061620,"SNOMEDCT_US: An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1."
+BMGC_DS16115,BMG_DS061622,"SNOMEDCT_US: This syndrome has characteristics of sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described."
+BMGC_DS16116,BMG_DS061632,"SNOMEDCT_US: This syndrome has characteristics of tall stature, learning difficulties and facial dysmorphism. So far, it has been described in six families. The syndrome is caused by mutations in the RNF135 (ring finger protein 135) gene."
+BMGC_DS16117,BMG_DS061635,"SNOMEDCT_US: Syndrome with characteristics of osteosclerosis, developmental delay and craniosynostosis. It has been reported in 13 patients from a four-generation family. Osteosclerosis was constant and most pronounced in the cranial base and calvarium. Craniosynostosis was reported in four patients and a mild developmental delay in three patients. Dysmorphic features were constant and included macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones and prominent jaw. A missense mutation A214T in the low-density lipoprotein receptor related protein 5 gene. | MONDO: This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis."
+BMGC_DS16118,BMG_DS061657,"SNOMEDCT_US: Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones. It has been described in two patients: a 43-year-old woman and a female infant. The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin."
+BMGC_DS16119,BMG_DS061667,"SNOMEDCT_US: This syndrome has characteristics of megalencephaly, polymicrogyria and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. | MONDO: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic."
+BMGC_DS16120,BMG_DS061746,"SNOMEDCT_US: Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. To date, twelve patients have been described. All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, fifth toe hypoplasia, and syndactyly, are common. Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination or Alu-mediated recombination."
+BMGC_DS16121,BMG_DS061747,"SNOMEDCT_US: A genetic variant of Mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface. | MONDO: Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."
+BMGC_DS16122,BMG_DS061751,"SNOMEDCT_US: A rare autosomal dominantly inherited disease of childhood characterised by hypoproliferative anaemia, hyperuricaemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system."
+BMGC_DS16123,BMG_DS061753,"SNOMEDCT_US: A form of diazoxide-sensitive diffuse hyperinsulinism characterised by hypoglycaemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. | MONDO: HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution."
+BMGC_DS16124,BMG_DS061816,
+BMGC_DS16125,BMG_DS061928,
+BMGC_DS16126,BMG_DS061970,"SNOMEDCT_US: A mitochondrial fatty acid oxidation disorder characterised by hyperinsulinaemic hypoglycaemia with seizures, and in one case fulminant hepatic failure. Less than 10 cases have been reported to date. The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinaemic hypoglycaemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide. It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase. The mode of inheritance is autosomal recessive."
+BMGC_DS16127,BMG_DS061971,"SNOMEDCT_US: A very rare autosomal dominant form of familial hyperinsulinism characterised clinically in the single reported family by postprandial hypoglycaemia, fasting hyperinsulinaemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset."
+BMGC_DS16128,BMG_DS061972,"SNOMEDCT_US: A form of diazoxide-sensitive diffuse hyperinsulinism, characterised by transient or persistent hyperinsulinaemic hypoglycaemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life. | MONDO: Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life."
+BMGC_DS16129,BMG_DS061975,"SNOMEDCT_US: An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). These disorders are caused by a functional deficiency of the cytoplasmic enzyme methionine synthase (MS), which catalyzes remethylation of homocysteine to form methionine. | MONDO: Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1)."
+BMGC_DS16130,BMG_DS061977,"SNOMEDCT_US: An exceedingly rare form of prion disease with characteristics of neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease, with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis."
+BMGC_DS16131,BMG_DS062019,"SNOMEDCT_US: An infantile-onset neurometabolic disease with characteristics of dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date. Caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles. Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation. It is inherited in an autosomal recessive manner. | MONDO: An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances."
+BMGC_DS16132,BMG_DS062023,"SNOMEDCT_US: Syndrome with the association of bilateral microtia, severe to profound hearing impairment and cleft palate. It has been described in four individuals from a consanguineous Iranian family. The syndrome is caused by point mutations in the HOXA2 gene, a gene that has already been shown to be involved in development of the auditory system in mice."
+BMGC_DS16133,BMG_DS062024,"SNOMEDCT_US: An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia. | MONDO: COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia."
+BMGC_DS16134,BMG_DS062029,"SNOMEDCT_US: An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. Caused by compound heterozygous mutation in the glycogenin 1 (GYG1) gene, which encodes glycogenin-1, on chromosome 3q24."
+BMGC_DS16135,BMG_DS062037,"SNOMEDCT_US: This syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia."
+BMGC_DS16136,BMG_DS062039,"SNOMEDCT_US: A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive. | MONDO: DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes."
+BMGC_DS16137,BMG_DS062042,"SNOMEDCT_US: Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner."
+BMGC_DS16138,BMG_DS062043,"SNOMEDCT_US: This syndrome has characteristics of short stature, anterior pituitary hormone deficiency, small sella turcica and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)."
+BMGC_DS16139,BMG_DS062046,"SNOMEDCT_US: A genetic variant of Mendelian susceptibility to mycobacterial disease with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. The disease presents in early childhood. BCG is the most common infection encountered, usually after receiving the vaccination. Non-typhoidal Salmonella infections are also seen in half of all cases. Caused by homozygous mutations in the IL12B gene on chromosome 5q31.1-q33.1 which encodes for the IL-12p40 subunit. There are 9 different IL12B mutant alleles identified, including 2 small insertions, 3 small deletions, 2 splice site mutations, 1 large deletion and 1 nonsense mutation."
+BMGC_DS16140,BMG_DS062051,SNOMEDCT_US: Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).
+BMGC_DS16141,BMG_DS062083,"SNOMEDCT_US: This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28). | MONDO: This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia."
+BMGC_DS16142,BMG_DS062092,"SNOMEDCT_US: An extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy."
+BMGC_DS16143,BMG_DS062093,"SNOMEDCT_US: A type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and haemorrhage but does not cause myeloproliferation. The disease usually presents at birth but can be discovered at any time during life and thus can affect all ages. Familial thrombocytosis is caused by germline mutations in the THPO gene (3q26.3-q27) or in the MPL (MPL S505N) gene (1p34). | MONDO: Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation."
+BMGC_DS16144,BMG_DS062094,"SNOMEDCT_US: A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive."
+BMGC_DS16145,BMG_DS062096,SNOMEDCT_US: A form of Ehlers-Danlos syndrome (EDS) with characteristics of severe kyphoscoliosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion.
+BMGC_DS16146,BMG_DS062097,"SNOMEDCT_US: A form of Ehlers-Danlos syndrome (EDS) with characteristics of joint hypermobility, skin hyperextensibility and cardiac valvular defects. | MONDO: Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency."
+BMGC_DS16147,BMG_DS062099,"SNOMEDCT_US: A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including ''bird-like'' facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive."
+BMGC_DS16148,BMG_DS062101,
+BMGC_DS16149,BMG_DS062105,"SNOMEDCT_US: A rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes. The syndrome has characteristics of a spectrum of developmental anomalies that include distinctive facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. | MONDO: 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti."
+BMGC_DS16150,BMG_DS062128,"SNOMEDCT_US: This syndrome has characteristics of congenital thrombocytopenia associated with the presence of large platelets. To date less than 10 cases are reported. The syndrome is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia. Transmission is autosomal dominant. | MONDO: This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets."
+BMGC_DS16151,BMG_DS062129,"SNOMEDCT_US: A very rare and atypical form of Chédiak-Higashi syndrome, a genetic disorder with characteristics of partial oculocutaneous albinism, severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. Missense mutations in the LYST lysosomal gene (1q42.1-q42.2) appear to cause this form of Chédiak-Higashi syndrome. Inherited in an autosomal recessive manner. | MONDO: Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder."
+BMGC_DS16152,BMG_DS062132,"SNOMEDCT_US: Syndrome with characteristics of moderate to profound hearing loss in both ears and severe nearsightedness (high myopia). The hearing loss may be described as sensorineural or it may be caused by auditory neuropathy. The hearing loss is either present at birth or begins in infancy, before the child learns to speak. This syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. SLITRK6 gene mutations result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane meaning the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth."
+BMGC_DS16153,BMG_DS062142,SNOMEDCT_US: A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anaemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anaemia with liver iron overload and type 2 diabetes.
+BMGC_DS16154,BMG_DS062143,"SNOMEDCT_US: A type of arthrogryposis with characteristics of congenital cleft palate, microcephaly, craniostenosis and arthrogryposis. Additional features include facial dysmorphism. Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. | MONDO: A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (\"
+BMGC_DS16155,BMG_DS062144,"SNOMEDCT_US: A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia."
+BMGC_DS16156,BMG_DS062165,SNOMEDCT_US: A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria.
+BMGC_DS16157,BMG_DS062170,"SNOMEDCT_US: Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. | MONDO: Classical Timothy syndrome without cutaneous syndactyly."
+BMGC_DS16158,BMG_DS062172,
+BMGC_DS16159,BMG_DS062178,"SNOMEDCT_US: This syndrome has characteristics of axonal sensory and autonomic neuropathy with hearing loss. It has been described in a large five-generation Chinese family. Onset occurred in the second decade of life with mild to severe hearing impairment due to degeneration of the auditory nerve, followed by late-onset of a diffuse and progressive peripheral sensory neuropathy. The causative gene was mapped to the AUNX1 locus on chromosome Xq23-27.3. Transmission was X-linked recessive. | MONDO: This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss."
+BMGC_DS16160,BMG_DS062183,"SNOMEDCT_US: Syndrome complex that has characteristics of the cutaneous features of xeroderma pigmentosum together with the systemic and neurological features of Cockayne syndrome. Less than 30 cases have been described to date. The disease manifests during infancy. Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer and also develop characteristic Cockayne syndrome manifestations such as microcephaly, hydrocephalus, cachexia, premature ageing, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy. Affected individuals have mutations in one of three XP genes: ERCC3 (2q21), ERCC2 (19q13.3), or ERCC5 (13q22-q34). Transmission is autosomal recessive. | MONDO: Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS)."
+BMGC_DS16161,BMG_DS062191,"SNOMEDCT_US: A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner."
+BMGC_DS16162,BMG_DS062195,"SNOMEDCT_US: A contiguous gene syndrome with characteristics of the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. It has been described in 8 patients to date. Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis. | MONDO: 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism."
+BMGC_DS16163,BMG_DS062197,"SNOMEDCT_US: Syndrome marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. Isolated terminal 6q deletion syndrome is very rare with less than 20 cases being reported in the literature. The most frequent craniofacial anomalies include microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set and a characteristic downturned mouth. The most commonly described neurological features are psychomotor retardation, hypotonia and seizures. Retinal anomalies are also common. The breakpoints are located between chromosome regions 6q25.3 and 6q26, within the fragile site FRA6E. | MONDO: 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations."
+BMGC_DS16164,BMG_DS062198,"SNOMEDCT_US: The newly described syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. It has been reported in two unrelated patients. There is no remarkable facial dysmorphism. The clinical picture is opposite to that of patients with Sotos syndrome. The breakpoints of the duplication in both patients map to the proximal and distal low-copy repeats which flank the Sotos critical region. These findings support a non-allelic homologous recombination as the mechanism of duplication, and a dosage effect of the Sotos gene NSD1 (5q35). | MONDO: The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation."
+BMGC_DS16165,BMG_DS062201,"SNOMEDCT_US: The newly described syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. To date, fourteen patients have been reported. Miscellaneous dysmorphic facial features are present in all cases, but some common features are noticed, high and wide forehead, pronounced eyebrows, anteverted nostrils, short and prominent philtrum, down-turned corners of the mouth and small chin. Stereotypic movements and poor eye contact are present in many patients, suggesting the diagnosis of autism spectrum disorder. The size of deletions varies, the minimal common deleted region encompasses only MEF2C, suggesting that haploinsufficiency of MEF2C is responsible for the phenotype. | MONDO: The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy."
+BMGC_DS16166,BMG_DS062203,"SNOMEDCT_US: A recently described syndrome with characteristics of a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. It has been described in fewer than 25 patients to date. Facial features include downslanting palpebral fissures, low-set ears and prominent nasal bridge. Most patients also have a high-arched palate or cleft palate. Some individuals have an ectodermal dysplasia-like phenotype, with thin, transparent skin and abnormalities of the hair and teeth. The size of the deletions is variable from 35 kb to 10.4 Mb. Haploinsufficiency of SATB2 is responsible for several of the clinical features."
+BMGC_DS16167,BMG_DS062204,"SNOMEDCT_US: The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. | MONDO: The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures."
+BMGC_DS16168,BMG_DS062205,"SNOMEDCT_US: The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidaemia. It has been described in seven patients from three families of a small Bedouin clan. Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears. Renal lithiasis occurs at an early age in all patients. Reduced activity of the respiratory chain complexes I, III, IV and V was found in patients examined. The syndrome is caused by homozygous deletion of at least four contiguous genes on chromosome 2: SLC3A1, PREPL, PPM1B and C2orf34 (2p21). | MONDO: The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia."
+BMGC_DS16169,BMG_DS062207,"SNOMEDCT_US: A recently described syndrome with characteristics of Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia. This syndrome is caused by an interstitial deletion encompassing 20p12.3. All these deletions except one occurred de novo and have a variable size with the smallest region of overlap including only one gene, BMP2, which is a good candidate gene for explaining the phenotype of Wolff-Parkinson-White syndrome. | MONDO: 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism."
+BMGC_DS16170,BMG_DS062208,"SNOMEDCT_US: A newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. It has been reported in four unrelated patients. The most common facial features include microcephaly, hypertelorism and thin upper lip. An abnormal corpus callosum (agenesis, hypogenesis or slightly reduced thickness) is observed in all affected patients. | MONDO: 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia."
+BMGC_DS16171,BMG_DS062210,"SNOMEDCT_US: An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways. | MONDO: 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder."
+BMGC_DS16172,BMG_DS062212,"SNOMEDCT_US: This syndrome has characteristics of neonatal blisters, milia and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait."
+BMGC_DS16173,BMG_DS062215,"SNOMEDCT_US: A recently described syndrome with characteristics of developmental delay, microcephaly, short stature, heart defects and limb abnormalities. The syndrome is caused by an interstitial deletion encompassing 17q23.1q23.2. The underlying mechanism is non-allelic homologous recombination. Parental FISH testing in five of the seven cases confirmed a de novo origin. The minimal deletion region of 2.2 Mb encompasses 2 transcription factors, TBX2 and TBX4, which are good candidate genes for explaining the phenotype."
+BMGC_DS16174,BMG_DS062226,"SNOMEDCT_US: This syndrome has characteristics of variable psychomotor delay and dysmorphic features. It has been recently described in less than ten patients. Clinical presentation is variable but it is possible to delineate a common clinical spectrum comprising mild to moderate psychomotor delay, hypotonia and discrete craniofacial dysmorphic features including a high forehead with frontal bossing, a small nose and a small mouth. The microduplication encompasses the same region that is deleted in Miller-Dieker (17p13 deletion) syndrome. The variable size of this de novo duplication indicates that mechanisms other than nonallelic homologous recombination may be responsible."
+BMGC_DS16175,BMG_DS062240,SNOMEDCT_US: A progressive autosomal dominant macular dystrophy with characteristics of parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull's eye configuration.
+BMGC_DS16176,BMG_DS062242,"SNOMEDCT_US: A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant. | MONDO: Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications."
+BMGC_DS16177,BMG_DS062243,"SNOMEDCT_US: A form of focal dystonia with characteristics of cervical, laryngeal and hand-forearm dystonia. | MONDO: Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia."
+BMGC_DS16178,BMG_DS062244,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy with characteristics of congenital pstosis and early cataract. Associated with a mildly progressive peripheral neuropathy of variable onset from birth to the sixth decade, pes cavus, reduced to absent ankle tendon reflexes and sometimes neutropenia. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia."
+BMGC_DS16179,BMG_DS062245,"SNOMEDCT_US: A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow."
+BMGC_DS16180,BMG_DS062247,"SNOMEDCT_US: A severe anomaly of bile acid synthesis with manifestation of severe neonatal cholestatic liver disease. To date, only 2 cases of this disorder have been reported. Caused by mutations in the 7-alpha hydroxylase gene (CYP7B1, 8q21.3). The deficiency in oxysterol 7-alpha-hydroxylation leads to the accumulation of hepatotoxic unsaturated monohydroxy bile acids. The mode of transmission is presumed to be autosomal recessive."
+BMGC_DS16181,BMG_DS062250,"SNOMEDCT_US: A subtype of junctional epidermolysis bullosa the condition occurs in childhood or young adulthood. 22 patients in 12 families have been reported to date. Blistering occurs at first around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, knees, along with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. COL17A1 mutations have recently been described in an affected family. The condition follows an autosomal recessive pattern of inheritance. | MONDO: Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood."
+BMGC_DS16182,BMG_DS062251,"SNOMEDCT_US: Leber plus disease describes patients with the clinical features of Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally inherited mitochondrial DNA (mtDNA) mutations. | MONDO: Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations."
+BMGC_DS16183,BMG_DS062255,"SNOMEDCT_US: The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27."
+BMGC_DS16184,BMG_DS062266,"SNOMEDCT_US: An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhoea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss."
+BMGC_DS16185,BMG_DS062267,"SNOMEDCT_US: An extremely rare disorder described in one family to date that has characteristics of progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation and mild cardiac hypertrophy. | MONDO: Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy."
+BMGC_DS16186,BMG_DS062268,"SNOMEDCT_US: Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone independent Cushing syndrome. The disease has characteristics of small to normal sized adrenal glands containing multiple small cortical pigmented nodules. A substantial proportion of patients present during early childhood (2-3 years). More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex. The condition is inherited in an autosomal dominant manner and can be associated with mutations in the PRKAR1A, PDE11A and PDE8B genes. | MONDO: A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)."
+BMGC_DS16187,BMG_DS062270,"SNOMEDCT_US: Progressive cavitating leukoencephalopathy has characteristics of acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. So far around 20 patients have been reported in the literature. Onset occurs in infancy or early childhood. The mode of transmission is autosomal recessive. | MONDO: Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability."
+BMGC_DS16188,BMG_DS062272,"SNOMEDCT_US: This syndrome has manifestations of the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive."
+BMGC_DS16189,BMG_DS062277,"SNOMEDCT_US: This syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22."
+BMGC_DS16190,BMG_DS062282,"SNOMEDCT_US: A rare syndromic form of cerebellar dysgenesis with characteristics of moderate to severe intellectual deficit and cerebellar abnormalities. OPHN1 syndrome is very rare. To date, up to 12 families have been reported. Affected male patients present moderate to severe intellectual disability, hypotonia, severe developmental delay, early-onset complex partial or tonic-clonic seizures, strabismus, dysmetria and occasionally ataxia. Cryptorchidism and genital hypoplasia have been reported. Various mutations including deletions and splice site mutations in the OPHN1 gene (Xq12) have been reported in patients with this syndrome. Transmission appears to follow an X-linked semi-dominant pattern."
+BMGC_DS16191,BMG_DS062291,"SNOMEDCT_US: VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association."
+BMGC_DS16192,BMG_DS062292,"SNOMEDCT_US: This syndrome is characterised by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant."
+BMGC_DS16193,BMG_DS062295,"SNOMEDCT_US: Characterized by marked neonatal hypotonia, progressive quadriparesis, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, and stereotypic movements of the hands, esotropia and infantile autism. It has been described in two related males, whereas female carriers were unaffected. Pericentric inversion inv(X)(q13;p22) has been identified it results in the absence of the product of the KIAA2022 gene, highly expressed in the brain."
+BMGC_DS16194,BMG_DS062302,"SNOMEDCT_US: X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome. | MONDO: X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism."
+BMGC_DS16195,BMG_DS062305,"SNOMEDCT_US: This syndrome is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region."
+BMGC_DS16196,BMG_DS062307,"SNOMEDCT_US: This syndrome is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome."
+BMGC_DS16197,BMG_DS062309,"SNOMEDCT_US: This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome."
+BMGC_DS16198,BMG_DS062312,"SNOMEDCT_US: A recently described syndrome with characteristics of short stature, hypogonadism, developmental delay and facial dysmorphism. Facial features include deep-set eyes, bulbous nasal tip and thin lips. Hypogonadism is due to primary gonadal failure. Patients also had some features that are probably caused by testosterone deficiency such as a high-pitched voice, sparse body hair and small hands and feet. Carrier females present with a short stature and early menopause. This syndrome is caused by an Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. Transmission is X-linked."
+BMGC_DS16199,BMG_DS062314,"SNOMEDCT_US: This syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localised to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. | MONDO: Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years."
+BMGC_DS16200,BMG_DS062316,"SNOMEDCT_US: A rare X-linked mental retardation syndrome with characteristics of psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. Prevalence is unknown, but the syndrome was originally described in a large Scottish family. Mutations in the AP1S2 gene (Xp22), coding for a subunit of the clathrin-associated adaptor protein complex involved in intracellular protein trafficking and synaptic vesicle recycling, have been identified in seven families. | MONDO: A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies."
+BMGC_DS16201,BMG_DS062320,"SNOMEDCT_US: This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. | MONDO: 12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis."
+BMGC_DS16202,BMG_DS062323,"SNOMEDCT_US: Spondyloepiphyseal dysplasia Nishimura type has characteristics of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. The syndrome has been described in four Japanese siblings born to nonconsanguineous parents. Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood."
+BMGC_DS16203,BMG_DS062325,"SNOMEDCT_US: A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. | MONDO: Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis."
+BMGC_DS16204,BMG_DS062326,"SNOMEDCT_US: A form of familial primary hypomagnesaemia characterised by low serum magnesium values but normal urinary magnesium values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. The disease has only been described in one large Brazilian kindred with 46 family members, of whom 21 were affected. Caused by a N255D mutation in the KCNA1 gene (12p13), which encodes the voltage-gated potassium channel Kv1.1. Mutations in KCNA1 result in a nonfunctional channel protein, with a dominant negative effect on wild-type Kv1.1 channel function, which is involved in the maintenance of membrane voltage and optimal function of the TRPM6 channel. Transmission is autosomal dominant. | MONDO: Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal."
+BMGC_DS16205,BMG_DS062330,"SNOMEDCT_US: A recently described syndrome with characteristics of developmental delay, short stature and facial dysmorphism. Dysmorphic features include bi-temporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions. Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They have a variable size with the smallest deletion being 1.6 Mb in length. | MONDO: 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism."
+BMGC_DS16206,BMG_DS062331,"SNOMEDCT_US: A recently described syndrome with characteristics of severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. The phenotype includes other features: postnatal growth retardation and microcephaly, hypotonia, epilepsy, stereotypic movements and feeding problems. Dysmorphic features associate prominent metopic suture, bilateral epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears. This syndrome is caused by an interstitial deletion encompassing 14q12. They have a variable size and include FOXG1 as the gene responsible for the intellectual deficit and severe microcephaly. | MONDO: 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months."
+BMGC_DS16207,BMG_DS062332,"SNOMEDCT_US: The absence or dramatic reduction of circulating human serum albumin (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protein and has many functions, patients present with only a few mild clinical signs and biochemical abnormalities, HSA is either absent or present at very low levels (<1 g/L) but liver function is normal and there is an absence of conditions leading to significant protein loss. The disorder appears to be more severe in the fetus or during early infancy. Transmitted as an autosomal recessive trait and consanguinity has been shown in all reported cases, the disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA (ALB; 4q13.3). | MONDO: Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA)."
+BMGC_DS16208,BMG_DS062335,"SNOMEDCT_US: This syndrome has characteristics of short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. To date, it has been described in four members of one family. Linkage analysis led to the identification of a homozygous deletion in the coding region of the ROBLD3 gene, resulting in reduced expression of the endosomal adaptor protein p14."
+BMGC_DS16209,BMG_DS062338,"SNOMEDCT_US: This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter."
+BMGC_DS16210,BMG_DS062340,"ORPHANET: A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."
+BMGC_DS16211,BMG_DS062342,"SNOMEDCT_US: A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis."
+BMGC_DS16212,BMG_DS062345,"SNOMEDCT_US: A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum. | MONDO: Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities."
+BMGC_DS16213,BMG_DS062348,"SNOMEDCT_US: An exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It has characteristics of the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with Moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon and livedo reticularis."
+BMGC_DS16214,BMG_DS062352,"MeSH: Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS."
+BMGC_DS16215,BMG_DS062410,"MeSH: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction."
+BMGC_DS16216,BMG_DS062420,"ORPHANET: A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. | MONDO: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used."
+BMGC_DS16217,BMG_DS062428,
+BMGC_DS16218,BMG_DS062429,"MONDO: Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene."
+BMGC_DS16219,BMG_DS062431,"SNOMEDCT_US: Disease with characteristics of abnormal inflammation throughout the body. The uncontrolled inflammation can damage body tissue and organs, including the gastrointestinal system, joints and skin. Onset is usually within the first few weeks of life with recurring episodes of fever, diarrhoea, painful, swollen joints and skin rash. Lipodystrophy is present in some individuals. Caused by mutation in the OTULIN gene, the protein produced from this gene helps control inflammation. Inherited in an autosomal recessive pattern."
+BMGC_DS16220,BMG_DS062432,MONDO: Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.
+BMGC_DS16221,BMG_DS062433,
+BMGC_DS16222,BMG_DS062434,
+BMGC_DS16223,BMG_DS062435,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.
+BMGC_DS16224,BMG_DS062436,"SNOMEDCT_US: A chronic autoinflammatory disease in which innate immune response is activated abnormally causing fever and inflammation-related damage to tissues and organs. The episodes can last for several days and occur weeks to months apart, manifestations include erythematous plaques on the skin, abdominal pain, dry eyes, dry mouth, mouth sores, chest pain and gland enlargement. This condition likely results from a combination of genetic and environmental factors. Variations in the NOD2 gene increase risk and it is suspected that environmental factors such as infections may also play a role in triggering the disease in people with genetic variants that increase their risk. The syndrome appears to be a complex disease without a single genetic cause. | MONDO: An an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants."
+BMGC_DS16225,BMG_DS062437,MONDO: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.
+BMGC_DS16226,BMG_DS062438,"ORPHANET: A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients. | MONDO: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene."
+BMGC_DS16227,BMG_DS062439,
+BMGC_DS16228,BMG_DS062440,MONDO: Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.
+BMGC_DS16229,BMG_DS062441,"ORPHANET: A rare syndromic optic nerve hypoplasia characterized by coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported."
+BMGC_DS16230,BMG_DS062442,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene.
+BMGC_DS16231,BMG_DS062443,
+BMGC_DS16232,BMG_DS062444,MONDO: Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene.
+BMGC_DS16233,BMG_DS062445,
+BMGC_DS16234,BMG_DS062446,
+BMGC_DS16235,BMG_DS062447,
+BMGC_DS16236,BMG_DS062448,MONDO: A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
+BMGC_DS16237,BMG_DS062449,"ORPHANET: A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association. | MONDO: Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene."
+BMGC_DS16238,BMG_DS062450,"ORPHANET: A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared."
+BMGC_DS16239,BMG_DS062451,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.
+BMGC_DS16240,BMG_DS062452,MONDO: Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.
+BMGC_DS16241,BMG_DS062453,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.
+BMGC_DS16242,BMG_DS062454,MONDO: Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.
+BMGC_DS16243,BMG_DS062455,
+BMGC_DS16244,BMG_DS062456,MONDO: Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene.
+BMGC_DS16245,BMG_DS062457,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.
+BMGC_DS16246,BMG_DS062458,
+BMGC_DS16247,BMG_DS062459,
+BMGC_DS16248,BMG_DS062460,MONDO: Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.
+BMGC_DS16249,BMG_DS062461,MONDO: Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.
+BMGC_DS16250,BMG_DS062462,MONDO: Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.
+BMGC_DS16251,BMG_DS062463,MONDO: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene.
+BMGC_DS16252,BMG_DS062464,MONDO: Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene.
+BMGC_DS16253,BMG_DS062465,
+BMGC_DS16254,BMG_DS062466,MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.
+BMGC_DS16255,BMG_DS062467,MONDO: Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene.
+BMGC_DS16256,BMG_DS062468,
+BMGC_DS16257,BMG_DS062469,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.
+BMGC_DS16258,BMG_DS062470,MONDO: Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.
+BMGC_DS16259,BMG_DS062471,MONDO: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.
+BMGC_DS16260,BMG_DS062472,
+BMGC_DS16261,BMG_DS062473,
+BMGC_DS16262,BMG_DS062474,"NCI: An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. | MONDO: An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients."
+BMGC_DS16263,BMG_DS062475,"MONDO: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis."
+BMGC_DS16264,BMG_DS062476,
+BMGC_DS16265,BMG_DS062477,
+BMGC_DS16266,BMG_DS062478,
+BMGC_DS16267,BMG_DS062479,MONDO: Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.
+BMGC_DS16268,BMG_DS062480,
+BMGC_DS16269,BMG_DS062481,MONDO: Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.
+BMGC_DS16270,BMG_DS062482,MONDO: Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.
+BMGC_DS16271,BMG_DS062483,MONDO: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.
+BMGC_DS16272,BMG_DS062484,
+BMGC_DS16273,BMG_DS062485,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.
+BMGC_DS16274,BMG_DS062486,MONDO: Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.
+BMGC_DS16275,BMG_DS062487,"ORPHANET: A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported."
+BMGC_DS16276,BMG_DS062488,
+BMGC_DS16277,BMG_DS062489,"SNOMEDCT_US: A rare mitochondrial disease with signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. | MONDO: A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy."
+BMGC_DS16278,BMG_DS062490,
+BMGC_DS16279,BMG_DS062491,
+BMGC_DS16280,BMG_DS062492,"NCI: An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present."
+BMGC_DS16281,BMG_DS062493,
+BMGC_DS16282,BMG_DS062494,
+BMGC_DS16283,BMG_DS062495,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.
+BMGC_DS16284,BMG_DS062496,"NCI: An autosomal dominant subtype of developmental and epileptic encephalopathy, caused by mutation(s) in the FGF12 gene, encoding fibroblast growth factor 12. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene."
+BMGC_DS16285,BMG_DS062497,
+BMGC_DS16286,BMG_DS062498,"NCI: An autosomal dominant condition caused by mutation(s) in the GRIN2D gene, encoding glutamate receptor ionotropic, NMDA 2D. It is characterized by developmental delay and intractable seizures. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene."
+BMGC_DS16287,BMG_DS062499,"NCI: An autosomal dominant condition caused by mutation(s) in the CHD4 gene, encoding chromodomain helicase DNA binding protein 4. It is characterized by disordered intellectual development, with variable congenital defects."
+BMGC_DS16288,BMG_DS062500,
+BMGC_DS16289,BMG_DS062501,MONDO: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.
+BMGC_DS16290,BMG_DS062502,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.
+BMGC_DS16291,BMG_DS062503,
+BMGC_DS16292,BMG_DS062504,
+BMGC_DS16293,BMG_DS062505,MONDO: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.
+BMGC_DS16294,BMG_DS062506,MONDO: Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.
+BMGC_DS16295,BMG_DS062507,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres. Musculoskeletal abnormalities include hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity. Ocular involvement includes strabismus, hypermetropia and cortical visual impairment. Hypotonia may also be associated. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations. The disorder is due to a heterozygous de novo SON mutation (21q22.11), which encodes for a protein required for proper RNA splicing. Whilst the disease is autosomal dominant, all reported cases have occurred sporadically."
+BMGC_DS16296,BMG_DS062508,MONDO: Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.
+BMGC_DS16297,BMG_DS062509,MONDO: Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene.
+BMGC_DS16298,BMG_DS062510,"NCI: An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the UBA5 gene, encoding ubiquitin-like modifier-activating enzyme 5. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene."
+BMGC_DS16299,BMG_DS062511,
+BMGC_DS16300,BMG_DS062512,
+BMGC_DS16301,BMG_DS062513,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.
+BMGC_DS16302,BMG_DS062514,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene.
+BMGC_DS16303,BMG_DS062515,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.
+BMGC_DS16304,BMG_DS062516,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.
+BMGC_DS16305,BMG_DS062517,
+BMGC_DS16306,BMG_DS062518,"MONDO: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene."
+BMGC_DS16307,BMG_DS062519,"MONDO: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene."
+BMGC_DS16308,BMG_DS062520,MONDO: Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.
+BMGC_DS16309,BMG_DS062521,MONDO: Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene.
+BMGC_DS16310,BMG_DS062522,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.
+BMGC_DS16311,BMG_DS062523,"SNOMEDCT_US: A rare genetic retinal disease with characteristics of dried-out soil pattern of the fundus due to diffuse deep white lines in the macula, to the level of the retinal pigment epithelium, which is slightly elevated and rippled. Macular exudation may be associated and Bruch's membrane may be affected too. Occasionally, peripheral nummular pigmentary changes may be observed, associated with blindness. The lesions enlarge with time, with a preferential macular extension and confluence. Complications may include polypoidal choroidal vasculopathy, choroidal neovascularisation or atrophic fibrous macular scarring that can lead to reduced visual acuity over time. | MONDO: Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene."
+BMGC_DS16312,BMG_DS062524,
+BMGC_DS16313,BMG_DS062525,"SNOMEDCT_US: A rare overgrowth syndrome associated with multiple congenital anomalies with characteristics of tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Biallelic loss of function variants in FIBP (11q13.1) are responsible for this phenotype. Transmission is autosomal recessive."
+BMGC_DS16314,BMG_DS062526,"NCI: An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene."
+BMGC_DS16315,BMG_DS062527,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.
+BMGC_DS16316,BMG_DS062528,
+BMGC_DS16317,BMG_DS062529,"MONDO: An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur."
+BMGC_DS16318,BMG_DS062530,"MONDO: A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss."
+BMGC_DS16319,BMG_DS062531,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.
+BMGC_DS16320,BMG_DS062532,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.
+BMGC_DS16321,BMG_DS062533,MONDO: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.
+BMGC_DS16322,BMG_DS062534,
+BMGC_DS16323,BMG_DS062535,"NCI: An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A. | MONDO: An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A."
+BMGC_DS16324,BMG_DS062536,
+BMGC_DS16325,BMG_DS062537,
+BMGC_DS16326,BMG_DS062538,MONDO: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.
+BMGC_DS16327,BMG_DS062539,MONDO: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.
+BMGC_DS16328,BMG_DS062540,MONDO: Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene.
+BMGC_DS16329,BMG_DS062541,"MONDO: An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."
+BMGC_DS16330,BMG_DS062542,MONDO: Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.
+BMGC_DS16331,BMG_DS062543,
+BMGC_DS16332,BMG_DS062544,"SNOMEDCT_US: A rare congenital muscular dystrophy characterized by neonatal hypotonia, life-threatening respiratory failure and feeding difficulties, furthermore by delayed motor development, severe muscle weakness predominantly affecting axial muscles (leading to poor head control, rigid cervical spine, and severe scoliosis), generalized joint laxity with no or mild contractures, as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability, rounded fibers with mild increase of endomysial connective tissue and adipose replacement, abundant minicore lesions, increase of centrally located nuclei, angular fibers and cap lesions."
+BMGC_DS16333,BMG_DS062545,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.
+BMGC_DS16334,BMG_DS062546,MONDO: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.
+BMGC_DS16335,BMG_DS062547,
+BMGC_DS16336,BMG_DS062548,
+BMGC_DS16337,BMG_DS062549,MONDO: Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.
+BMGC_DS16338,BMG_DS062550,"ORPHANET: A rare genetic, multiple congenital anomalies syndrome characterized by the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome. | MONDO: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene."
+BMGC_DS16339,BMG_DS062551,"SNOMEDCT_US: A rare genetic neurodegenerative disease with characteristics of sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome."
+BMGC_DS16340,BMG_DS062552,MONDO: Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.
+BMGC_DS16341,BMG_DS062553,
+BMGC_DS16342,BMG_DS062554,MONDO: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.
+BMGC_DS16343,BMG_DS062555,MONDO: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.
+BMGC_DS16344,BMG_DS062556,"NCI: An autosomal dominant condition caused by mutation(s) in the FLNC gene, encoding filamin-C. It is characterized by restrictive cardiomyopathy in the context of normal contractility, left ventricular wall thickness and systolic function."
+BMGC_DS16345,BMG_DS062557,"NCI: An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the FLNC gene, encoding filamin-C. | MONDO: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene."
+BMGC_DS16346,BMG_DS062558,"MONDO: Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion."
+BMGC_DS16347,BMG_DS062559,MONDO: Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.
+BMGC_DS16348,BMG_DS062560,MONDO: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.
+BMGC_DS16349,BMG_DS062561,
+BMGC_DS16350,BMG_DS062562,MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.
+BMGC_DS16351,BMG_DS062563,MONDO: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene.
+BMGC_DS16352,BMG_DS062564,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.
+BMGC_DS16353,BMG_DS062565,"ORPHANET: A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported."
+BMGC_DS16354,BMG_DS062566,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.
+BMGC_DS16355,BMG_DS062567,"ORPHANET: Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. | MONDO: Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor."
+BMGC_DS16356,BMG_DS062568,"NCI: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the CSF3R gene, encoding granulocyte colony-stimulating factor receptor. It is characterized by the onset of recurrent infections in infancy or early childhood and peripheral neutropenia, despite normal granulocyte maturation, that is unresponsive to treatment with G-CSF."
+BMGC_DS16357,BMG_DS062569,"SNOMEDCT_US: An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. This disease is caused by mutations in the SLC39A14 gene responsible for instructions for proteins that transport manganese across cell membranes. Because SLC39A14 gene mutations prevent manganese from entering liver cells, this disease does not cause liver damage. Polycythaemia is also absent but the reason for this is unknown. Inherited in an autosomal recessive pattern. | MONDO: Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene."
+BMGC_DS16358,BMG_DS062570,
+BMGC_DS16359,BMG_DS062571,MONDO: Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.
+BMGC_DS16360,BMG_DS062572,"MONDO: Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene."
+BMGC_DS16361,BMG_DS062573,MONDO: Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.
+BMGC_DS16362,BMG_DS062574,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.
+BMGC_DS16363,BMG_DS062575,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.
+BMGC_DS16364,BMG_DS062576,
+BMGC_DS16365,BMG_DS062577,"MONDO: Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males."
+BMGC_DS16366,BMG_DS062578,MONDO: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene.
+BMGC_DS16367,BMG_DS062579,
+BMGC_DS16368,BMG_DS062580,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures."
+BMGC_DS16369,BMG_DS062581,MONDO: Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.
+BMGC_DS16370,BMG_DS062582,MONDO: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene.
+BMGC_DS16371,BMG_DS062583,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.
+BMGC_DS16372,BMG_DS062584,MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.
+BMGC_DS16373,BMG_DS062585,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.
+BMGC_DS16374,BMG_DS062586,MONDO: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.
+BMGC_DS16375,BMG_DS062587,MONDO: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.
+BMGC_DS16376,BMG_DS062588,
+BMGC_DS16377,BMG_DS062589,MONDO: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.
+BMGC_DS16378,BMG_DS062590,"ORPHANET: A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils."
+BMGC_DS16379,BMG_DS062591,MONDO: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.
+BMGC_DS16380,BMG_DS062592,"MONDO: Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene."
+BMGC_DS16381,BMG_DS062593,
+BMGC_DS16382,BMG_DS062594,
+BMGC_DS16383,BMG_DS062595,
+BMGC_DS16384,BMG_DS062596,"MONDO: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene."
+BMGC_DS16385,BMG_DS062597,MONDO: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.
+BMGC_DS16386,BMG_DS062598,MONDO: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.
+BMGC_DS16387,BMG_DS062599,"ORPHANET: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypolastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement."
+BMGC_DS16388,BMG_DS062600,"NCI: An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the DNAJC6 gene, encoding putative tyrosine-protein phosphatase auxilin. It is characterized by an onset of Parkinsonism between the third and fifth decades. Mutations(s) in DNAJC6, are also causative in PARK19A."
+BMGC_DS16389,BMG_DS062601,
+BMGC_DS16390,BMG_DS062602,"SNOMEDCT_US: A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities. The disorder is either caused by mutations in Switch-insensitive 3 transcription regulator family member A (SIN3A; 15q24.2) or microdeletions, of various sizes, in the chromosome region 15q24 (15q24 microdeletion syndrome). The microdeletions often, but not always, encompass SIN3A. Transmission is autosomal dominant."
+BMGC_DS16391,BMG_DS062603,MONDO: A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.
+BMGC_DS16392,BMG_DS062604,"MONDO: Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects."
+BMGC_DS16393,BMG_DS062605,
+BMGC_DS16394,BMG_DS062606,MONDO: Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.
+BMGC_DS16395,BMG_DS062607,
+BMGC_DS16396,BMG_DS062608,
+BMGC_DS16397,BMG_DS062609,"NCI: An X-linked condition caused by mutation(s) in the BGN gene, encoding biglycan. It is characterized by cardiovascular defects and abnormal facies."
+BMGC_DS16398,BMG_DS062610,"NCI: An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females."
+BMGC_DS16399,BMG_DS062611,
+BMGC_DS16400,BMG_DS062612,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.
+BMGC_DS16401,BMG_DS062613,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.
+BMGC_DS16402,BMG_DS062614,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.
+BMGC_DS16403,BMG_DS062615,MONDO: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.
+BMGC_DS16404,BMG_DS062616,MONDO: Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.
+BMGC_DS16405,BMG_DS062617,
+BMGC_DS16406,BMG_DS062618,
+BMGC_DS16407,BMG_DS062619,
+BMGC_DS16408,BMG_DS062620,MONDO: Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.
+BMGC_DS16409,BMG_DS062621,
+BMGC_DS16410,BMG_DS062622,
+BMGC_DS16411,BMG_DS062627,
+BMGC_DS16412,BMG_DS062636,
+BMGC_DS16413,BMG_DS062637,
+BMGC_DS16414,BMG_DS062647,
+BMGC_DS16415,BMG_DS062657,MONDO: Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
+BMGC_DS16416,BMG_DS062663,
+BMGC_DS16417,BMG_DS062664,
+BMGC_DS16418,BMG_DS062668,MONDO: Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted.
+BMGC_DS16419,BMG_DS062669,
+BMGC_DS16420,BMG_DS062670,MONDO: Chromosome 19q13.11 deletion syndrome in which the distal region was deleted.
+BMGC_DS16421,BMG_DS062671,
+BMGC_DS16422,BMG_DS062677,
+BMGC_DS16423,BMG_DS062701,"HPO: In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. [https://orcid.org/0000-0002-0736-9199] | MONDO: Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short."
+BMGC_DS16424,BMG_DS062793,"NCI: An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. | MONDO: An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones."
+BMGC_DS16425,BMG_DS062794,NCI: Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. | MONDO: Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.
+BMGC_DS16426,BMG_DS062796,"MeSH: Infection with amoebae of the genus ENTAMOEBA. Infection with E. histolytica causes DYSENTERY, AMEBIC and LIVER ABSCESS, AMEBIC."
+BMGC_DS16427,BMG_DS062799,"MeSH: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset."
+BMGC_DS16428,BMG_DS062800,"NCI: A usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. | MeSH: A deficiency or absence of FIBRINOGEN in the blood."
+BMGC_DS16429,BMG_DS062802,"HPO: Any abnormality of the eye, including location, spacing, and intraocular abnormalities. [https://orcid.org/0000-0002-0736-9199] | MONDO: A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
+BMGC_DS16430,BMG_DS062806,"MONDO: Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. | MeSH: A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME."
+BMGC_DS16431,BMG_DS062807,"HPO: A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. [https://orcid.org/0000-0002-0736-9199, PMID:28276060, PMID:28276062, PMID:28276064] | MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS16432,BMG_DS062811,"NCI: Abnormally low levels of thyroid hormones due to a disorder originating within the thyroid gland. | MeSH: A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction."
+BMGC_DS16433,BMG_DS062812,MeSH: Diseases of the DIVERTICULUM often due to infection and/or inflammation (DIVERTICULITIS).
+BMGC_DS16434,BMG_DS062813,"MONDO: Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk."
+BMGC_DS16435,BMG_DS062816,HPO: An abnormality of the thyroid gland. [https://orcid.org/0000-0002-0736-9199] | MONDO: A disease involving the thyroid gland.
+BMGC_DS16436,BMG_DS062817,"SNOMEDCT_US: A transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain, regardless of whether focal, generalised, or unknown onset, whether aware or impaired awareness, and whether motor or nonmotor. | MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS16437,BMG_DS062819,"MeSH: An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts."
+BMGC_DS16438,BMG_DS062820,
+BMGC_DS16439,BMG_DS062821,"SNOMEDCT_US: An extremely rare syndromic lymphedema disorder characterized by four features which begin in early childhood and are progressive; hypotrichosis, lymphedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13."
+BMGC_DS16440,BMG_DS062823,MONDO: Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.
+BMGC_DS16441,BMG_DS062824,"MeSH: BODY MASS INDEX in children (ages 2-12) and in adolescents (ages 13-18) that is grossly above the recommended cut-off for a specific age and sex. For infants less than 2 years of age, obesity is determined based on standard weight-for-length percentile measures."
+BMGC_DS16442,BMG_DS062826,"SNOMEDCT_US: A rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency with a highly variable phenotype. The disease typically presents with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. Caused by homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. | MONDO: A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation."
+BMGC_DS16443,BMG_DS062827,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation characterised by microcephaly, hepatomegaly, oedema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23)."
+BMGC_DS16444,BMG_DS062829,NCI: A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. | MONDO: A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.
+BMGC_DS16445,BMG_DS062830,"NCI: A subtype of idiopathic generalized epilepsy, whose manifestations occur around puberty, associated with mutation(s) in the EFHC1 gene, encoding EF-hand domain-containing protein 1. | MONDO: A genetic epilepsy with onset occurring around puberty. Juvenile absence epilepsy is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. | MeSH: A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)"
+BMGC_DS16446,BMG_DS062831,"NCI: A group of inherited syndromes in which there is impaired growth hormone signaling, despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty. | MONDO: Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency."
+BMGC_DS16447,BMG_DS062840,"MONDO: BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900)."
+BMGC_DS16448,BMG_DS062841,"HPO: A gap in the lip or lips. [] | MONDO: A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse."
+BMGC_DS16449,BMG_DS062857,"NCI: Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency."
+BMGC_DS16450,BMG_DS062860,NCI: A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with CBFA2T3-GLIS2 chimeric oncogene and has an unfavorable prognosis.
+BMGC_DS16451,BMG_DS062864,"NCI: A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. | MONDO: A hypercalcemia disease that occurs between 28 days to one year of life."
+BMGC_DS16452,BMG_DS062871,NCI: T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation. | MONDO: T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.
+BMGC_DS16453,BMG_DS062883,NCI: A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal. | MONDO: A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.
+BMGC_DS16454,BMG_DS062888,"HPO: A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. [https://orcid.org/0000-0002-0736-9199, PMID:7758185]"
+BMGC_DS16455,BMG_DS062893,MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene.
+BMGC_DS16456,BMG_DS062894,
+BMGC_DS16457,BMG_DS062895,
+BMGC_DS16458,BMG_DS062901,"NCI: An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair."
+BMGC_DS16459,BMG_DS062903,"MONDO: A brain disorder caused by pathogenic variants in NFIA that is characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures."
+BMGC_DS16460,BMG_DS062904,
+BMGC_DS16461,BMG_DS062906,"MONDO: Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions."
+BMGC_DS16462,BMG_DS062907,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.
+BMGC_DS16463,BMG_DS062908,MONDO: Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.
+BMGC_DS16464,BMG_DS062909,MONDO: Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.
+BMGC_DS16465,BMG_DS062910,
+BMGC_DS16466,BMG_DS062911,
+BMGC_DS16467,BMG_DS062912,
+BMGC_DS16468,BMG_DS062913,
+BMGC_DS16469,BMG_DS062914,
+BMGC_DS16470,BMG_DS062915,
+BMGC_DS16471,BMG_DS062916,"NCI: An autosomal recessive condition caused by mutation(s) in the DNAJC12 gene, encoding dnaJ homolog subfamily C member 12. It is characterized by increased serum phenylalanine concentrations resulting in variable neurologic defects, including movement defects and intellectual disability. BH4 metabolism is normal. | MONDO: Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017})."
+BMGC_DS16472,BMG_DS062917,
+BMGC_DS16473,BMG_DS062918,
+BMGC_DS16474,BMG_DS062919,
+BMGC_DS16475,BMG_DS062920,
+BMGC_DS16476,BMG_DS062921,"MONDO: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})."
+BMGC_DS16477,BMG_DS062922,"MONDO: Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease."
+BMGC_DS16478,BMG_DS062923,"ORPHANET: A rare, congenital disorder of glycosylation caused by mutations in the &lt;i&gt;COG2&lt;/i&gt; gene and characterized by normal presentation at birth, followed by progressive deterioration with postnatal microcephaly, developmental delay, intellectual disability, seizures, spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI."
+BMGC_DS16479,BMG_DS062924,
+BMGC_DS16480,BMG_DS062925,"ORPHANET: A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy."
+BMGC_DS16481,BMG_DS062926,MONDO: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
+BMGC_DS16482,BMG_DS062927,MONDO: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
+BMGC_DS16483,BMG_DS062928,MONDO: A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
+BMGC_DS16484,BMG_DS062929,
+BMGC_DS16485,BMG_DS062930,
+BMGC_DS16486,BMG_DS062931,
+BMGC_DS16487,BMG_DS062932,"MONDO: BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017})."
+BMGC_DS16488,BMG_DS062933,
+BMGC_DS16489,BMG_DS062935,
+BMGC_DS16490,BMG_DS062936,
+BMGC_DS16491,BMG_DS062937,
+BMGC_DS16492,BMG_DS062938,"MONDO: Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)."
+BMGC_DS16493,BMG_DS062939,
+BMGC_DS16494,BMG_DS062940,
+BMGC_DS16495,BMG_DS062941,
+BMGC_DS16496,BMG_DS062942,"MONDO: IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017})."
+BMGC_DS16497,BMG_DS062943,"MONDO: IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017})."
+BMGC_DS16498,BMG_DS062944,
+BMGC_DS16499,BMG_DS062945,
+BMGC_DS16500,BMG_DS062946,
+BMGC_DS16501,BMG_DS062947,"MONDO: Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480)."
+BMGC_DS16502,BMG_DS062948,
+BMGC_DS16503,BMG_DS062949,
+BMGC_DS16504,BMG_DS062950,"ORPHANET: A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum. | MONDO: A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum."
+BMGC_DS16505,BMG_DS062951,
+BMGC_DS16506,BMG_DS062952,"NCI: An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair."
+BMGC_DS16507,BMG_DS062953,"SNOMEDCT_US: A rare severe combined immunodeficiency characterised by T-cell lymphopenia and absent T-cell proliferative responses, and normal B-cell and natural killer cell counts. Patients present in the first months of life with severe recurrent infections, failure to thrive, haematologic autoimmune disorders, and/or lymphoproliferation with splenomegaly."
+BMGC_DS16508,BMG_DS062955,"MONDO: A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems."
+BMGC_DS16509,BMG_DS062956,
+BMGC_DS16510,BMG_DS062957,
+BMGC_DS16511,BMG_DS062958,
+BMGC_DS16512,BMG_DS062959,
+BMGC_DS16513,BMG_DS062960,
+BMGC_DS16514,BMG_DS062961,
+BMGC_DS16515,BMG_DS062962,"ORPHANET: A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy."
+BMGC_DS16516,BMG_DS062963,"MONDO: Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017})."
+BMGC_DS16517,BMG_DS062964,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occuring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition. | MONDO: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017})."
+BMGC_DS16518,BMG_DS062965,
+BMGC_DS16519,BMG_DS062967,
+BMGC_DS16520,BMG_DS062968,"NCI: An autosomal dominant condition caused by mutation(s) in the YY1 gene, encoding transcriptional repressor protein YY1. It is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and variable functional and morphological abnormalities."
+BMGC_DS16521,BMG_DS062969,"ORPHANET: A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss."
+BMGC_DS16522,BMG_DS062970,
+BMGC_DS16523,BMG_DS062971,
+BMGC_DS16524,BMG_DS062972,
+BMGC_DS16525,BMG_DS062975,
+BMGC_DS16526,BMG_DS062976,
+BMGC_DS16527,BMG_DS063000,"MeSH: EPILEPTIC SEIZURES that are of similar type and age of onset and have other similar features (e.g., clinical course, EEG findings, genetic association and neuropathology)."
+BMGC_DS16528,BMG_DS063011,"MeSH: Genetic or familial occurrence of ADDISONS DISEASE characterized by insufficient production of cortisol, aldosterone, and/or other hormones made in the adrenal cortex."
+BMGC_DS16529,BMG_DS063016,MeSH: Diseases of the DIVERTICULUM often due to infection and/or inflammation (DIVERTICULITIS).
+BMGC_DS16530,BMG_DS063019,"MeSH: Interstitial pneumonia caused by extensive infection of the lungs (LUNG) and BRONCHI, particularly the lower lobes of the lungs, by MYCOPLASMA PNEUMONIAE in humans. In SHEEP, it is caused by MYCOPLASMA OVIPNEUMONIAE. In CATTLE, it may be caused by MYCOPLASMA DISPAR."
+BMGC_DS16531,BMG_DS063020,"MeSH: Interstitial pneumonia caused by extensive infection of the lungs (LUNG) and BRONCHI, particularly the lower lobes of the lungs, by MYCOPLASMA PNEUMONIAE in humans. In SHEEP, it is caused by MYCOPLASMA OVIPNEUMONIAE. In CATTLE, it may be caused by MYCOPLASMA DISPAR."
+BMGC_DS16532,BMG_DS063025,"MeSH: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder."
+BMGC_DS16533,BMG_DS063026,"MeSH: Fungal infection of keratinized tissues such as hair, skin and nails. The main causative fungi include MICROSPORUM; TRICHOPHYTON; and EPIDERMOPHYTON."
+BMGC_DS16534,BMG_DS063027,"MeSH: Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS)."
+BMGC_DS16535,BMG_DS063036,"MeSH: Liver disease lasting six months or more, caused by an adverse effect of a drug or chemical. The adverse effect may be caused by drugs, drug metabolites, chemicals from the environment, or an idiosyncratic response."
+BMGC_DS16536,BMG_DS063037,"MeSH: Liver disease lasting six months or more, caused by an adverse effect of a drug or chemical. The adverse effect may be caused by drugs, drug metabolites, chemicals from the environment, or an idiosyncratic response."
+BMGC_DS16537,BMG_DS063041,"ORPHANET: A rare subtype of indolent systemic mastocytosis characterized by isolated bone marrow involvement without skin lesions, low burden of neoplastic mast cells, and often normal or near normal serum tryptase levels. The &lt;i&gt;KIT&lt;/i&gt; D816V mutation is present in the majority of cases."
+BMGC_DS16538,BMG_DS063044,
+BMGC_DS16539,BMG_DS063137,
+BMGC_DS16540,BMG_DS063276,NCI: A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma. | MONDO: A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.
+BMGC_DS16541,BMG_DS063279,"SNOMEDCT_US: Syndrome with characteristics of various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Six cases from consanguineous parents have been described. Endocrine anomalies include hypoplasia of the adrenal and pituitary glands. Skeletal anomalies include micromelia, syndactyly, brachydactyly and ulnar deviation of hands. Facial anomalies, such as midface hypoplasia, micrognathia, and a flat and wide nasal bridge, are also observed. The disease is caused by mutations in the ICK gene, encoding an intestinal cell kinase. Transmission is autosomal recessive."
+BMGC_DS16542,BMG_DS063280,"SNOMEDCT_US: A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis) and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance."
+BMGC_DS16543,BMG_DS063281,"SNOMEDCT_US: A potentially fatal neurological disease with characteristics of neuropathological lesions principally involving the brainstem, thalamus and putamen. It has been described in 11 members of one family. Onset occurs during early childhood, typically a few days after a febrile illness. Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases. The mode of transmission appears to be autosomal dominant with incomplete penetrance."
+BMGC_DS16544,BMG_DS063285,"SNOMEDCT_US: A genetic variant of mendelian susceptibility to mycobacterial diseases characterised by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leucocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner."
+BMGC_DS16545,BMG_DS063286,"SNOMEDCT_US: A rare genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). The prevalence is unknown. The first infections occur after vaccination with BCG and before the age of 2. No other infectious diseases have been reported. Caused by heterozygous mutations in the IRF8 gene on chromosome 16q24.1 which encodes IRF8, a protein essential for the development of dendritic cells and the differentiation of macrophages and granulocytes. Mutations in the IRF8 gene impair IL-12 secretion by monocytes and dendritic cells. Inherited in an autosomal dominant manner."
+BMGC_DS16546,BMG_DS063287,"SNOMEDCT_US: A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. The prevalence is unknown. First infections occur after the age of 3. Clinical penetrance is incomplete and some patients are asymptomatic while others have very mild clinical manifestations. Caused by heterozygous mutations in the STAT1 gene on chromosome 2q32.2-q32.3 encoding the signal transducer and activator of transcription 1. Two distinct forms have been described: one affecting phosphorylation and the other impairing DNA-binding activity. Transmission is autosomal dominant."
+BMGC_DS16547,BMG_DS063292,"SNOMEDCT_US: A skeletal dysplasia with distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (including irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses)."
+BMGC_DS16548,BMG_DS063295,"SNOMEDCT_US: Disease characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localized to the Z disk. Transmission is autosomal dominant."
+BMGC_DS16549,BMG_DS063296,"SNOMEDCT_US: A patterned dystrophy of the retinal pigment epithelium with characteristics of multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease. Usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. | MONDO: Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age."
+BMGC_DS16550,BMG_DS063308,"SNOMEDCT_US: Disease with characteristics of the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and in later life intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). Caused by heterozygous disruption of the CAMTA1 gene on chromosome 1p36."
+BMGC_DS16551,BMG_DS063309,"SNOMEDCT_US: Rare syndrome with characteristics of the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. Dysplasia may involve the mitral, tricuspidal, aortic and pulmonary valves. Dysmorphic facial anomalies are usually mild, vary among families and include a dolichocephalic face, broad forehead, ptosis, prominent nose, crowded teeth, high-arched palate and posteriorly angulated and everted ears. The severity of short stature is variable, as is the presence of intellectual deficit. The condition seems to be transmitted as an autosomal dominant trait. | MONDO: Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit."
+BMGC_DS16552,BMG_DS063311,"SNOMEDCT_US: A slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that becomes evident during the third decade of life. The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin). The disease manifests during childhood with pes cavus and tendo-achilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal. Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12)."
+BMGC_DS16553,BMG_DS063315,"SNOMEDCT_US: A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma. | MONDO: Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma."
+BMGC_DS16554,BMG_DS063316,SNOMEDCT_US: Syndrome with the association of sensorineural hearing impairment and peripheral neuropathy. It has been described in members from four generations of a Spanish family. The hearing impairment was mild and often asymmetrical. The neuropathy was demyelinating with predominantly sensory involvement but severity was variable ranging from asymptomatic individuals to patients with skin ulcers and osteomyelitis requiring amputation. Caused by mutations in the GJB3 gene (1p34). The syndrome is transmitted in an autosomal dominant manner. | MONDO: This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy.
+BMGC_DS16555,BMG_DS063321,"SNOMEDCT_US: Syndrome with characteristics of malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. It has been described in 18 females, six of whom came from four different generations of the same family. Phenotypic expression is very heterogeneous. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases. The pigmentary lesions and digital fibromatosis appear a few months after birth. There is evidence that the syndrome is caused by mutation in the FLNA gene. The syndrome is transmitted as an in utero male-lethal X-linked dominant trait, explaining the large number of miscarriages reported in the affected families."
+BMGC_DS16556,BMG_DS063335,"SNOMEDCT_US: The most severe subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Oesophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive."
+BMGC_DS16557,BMG_DS063358,"ORPHANET: A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence."
+BMGC_DS16558,BMG_DS063368,SNOMEDCT_US: An extremely rare autosomal dominant syndrome described in two families to date and with characteristics of moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. Caused by mutation in the EYA4 gene.
+BMGC_DS16559,BMG_DS063389,"SNOMEDCT_US: A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polycystic kidneys. It has been described in two siblings. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible for the syndrome."
+BMGC_DS16560,BMG_DS063390,"ORPHANET: A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms."
+BMGC_DS16561,BMG_DS063393,"SNOMEDCT_US: Syndrome that has characteristics of severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. There is evidence this syndrome is caused by homozygous mutation in the ZNF335 gene on chromosome 20q13."
+BMGC_DS16562,BMG_DS063395,"SNOMEDCT_US: Syndrome with characteristics of metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. There is evidence this syndrome is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21."
+BMGC_DS16563,BMG_DS063396,"SNOMEDCT_US: A form of neuroacanthocytosis with clinical characteristics of a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. The disorder is very rare and a few hundred cases are suspected worldwide. About one third of patients present with chorea indistinguishable from that observed in Huntington disease and most patients will develop chorea during the course of the disease. Caused by mutations of the XK gene (Xp21.1) encoding the XK protein, which includes the Kx erythrocyte antigen. Most pathogenic mutations are nonsense mutations or deletions predicting an absent or shortened XK protein lacking the Kell protein-binding site."
+BMGC_DS16564,BMG_DS063398,"SNOMEDCT_US: This syndrome has characteristics of severe growth retardation associated with immunodeficiency. Less than 10 cases have been described in literature. Individuals present with typical clinical and biochemical features of Laron syndrome such as post-natal growth retardation, delayed bone age and facial dysmorphism (prominent forehead, hypoplastic nasal bridge), and low serum IGF-1 concentrations with normal or high GH concentrations. Immunodeficiency has manifestations of moderate lymphopenia which leads to recurrent infections of the skin and respiratory tract. The syndrome is due to mutation in the signal transducer and activator of transcription 5b gene (STAT5b). Transmission is autosomal recessive."
+BMGC_DS16565,BMG_DS063422,"SNOMEDCT_US: Syndrome with characteristics of congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase on chromosome 11q24. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation."
+BMGC_DS16566,BMG_DS063423,"SNOMEDCT_US: Syndrome with the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. It has been described in two males. Additional features included bilateral inguinal hernias, undescended testes, and impaired vision with cataracts and colobomata. | MONDO: This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism."
+BMGC_DS16567,BMG_DS063428,"SNOMEDCT_US: The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI."
+BMGC_DS16568,BMG_DS063429,"SNOMEDCT_US: Disease characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia and proximal muscle weakness. In adult cases, the muscular weakness is progressive. Nineteen affected individuals have been described from one large family. The causative gene, the hereditary inclusion-body myopathy (IBM3) gene, has been mapped to chromosome region 17p13.1. Inheritance is autosomal dominant. | MONDO: Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive."
+BMGC_DS16569,BMG_DS063432,"SNOMEDCT_US: A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function. | MONDO: Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors."
+BMGC_DS16570,BMG_DS063433,"SNOMEDCT_US: Syndrome that is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. Mutations in the gene coding PML nuclear body protein Sp110 on chromosome 2q37 were found to be responsible for this association. Transmission is autosomal recessive."
+BMGC_DS16571,BMG_DS063442,
+BMGC_DS16572,BMG_DS063456,"SNOMEDCT_US: A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait."
+BMGC_DS16573,BMG_DS063461,"SNOMEDCT_US: A disorder of sex development associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. The disorder is heterogeneous and associated with partial abnormality of both Leydig cell and Sertoli cell function that may result from deletions or point mutations in the SRY gene or dose sensitive sex (NR0B1) locus duplication on the X chromosome. More important are mutations in steroidogenic factor 1 (SF1, NR5A1, Ad4BP). SF-1 is a nuclear receptor and regulator of multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Therefore, affected patients may also have adrenal insufficiency. Syndromic forms have been associated with WT-1 mutations, which lead to variable testicular dysgenesis and an increased risk of renal abnormalities, namely Wilms tumors or nephrotic syndrome. | MONDO: 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype."
+BMGC_DS16574,BMG_DS063463,"SNOMEDCT_US: This syndrome has characteristics of muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase."
+BMGC_DS16575,BMG_DS063464,"SNOMEDCT_US: A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive."
+BMGC_DS16576,BMG_DS063467,"SNOMEDCT_US: This syndrome has characteristics of osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. It has been described in a brother and a sister born to nonconsanguineous Caucasian parents. The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described."
+BMGC_DS16577,BMG_DS063484,"SNOMEDCT_US: An extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. | MONDO: Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted."
+BMGC_DS16578,BMG_DS063486,"SNOMEDCT_US: A rare haematologic disease due to defective platelet function and characterised by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, haematoma and bleeding after tooth extraction. Massive menorrhagia and chronic anaemia have also been reported."
+BMGC_DS16579,BMG_DS063516,SNOMEDCT_US: An extremely rare genetic combined primary immunodeficiency with characteristics of selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant auto-immune manifestations.
+BMGC_DS16580,BMG_DS063518,"SNOMEDCT_US: An extremely rare genetic congenital heart disease with the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. There is evidence this disease is caused by heterozygous mutation in the NKX2-5 gene on chromosome 5q35."
+BMGC_DS16581,BMG_DS063519,"SNOMEDCT_US: A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents. | MONDO: Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms."
+BMGC_DS16582,BMG_DS063521,"SNOMEDCT_US: A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and consequently to recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by a heterozygous mutation in the IFNGR2 gene on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain 2. The 186delC mutation corresponds to the first mutation conferring an AD partial IFN-gammaR2 deficiency. | MONDO: A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)."
+BMGC_DS16583,BMG_DS063523,"SNOMEDCT_US: Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. In total, less than 40 cases of omodysplasia have been described in the literature so far, with the majority of reported cases concerning the autosomal recessive form of the disease. The etiology remains unknown but a paternally inherited paracentric inversion of 15q13 to q21.3 has been detected in one family. | MONDO: Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs."
+BMGC_DS16584,BMG_DS063527,"SNOMEDCT_US: A rare autosomal recessively inherited disorder of ketone body metabolism, characterised clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycaemia and in rare cases coma. Patients are mostly asymptomatic between acute episodes. This disease requires an early diagnosis in order to avoid hypoglycaemic crisis that can lead to permanent brain damage or death. Caused by homozygous or compound heterozygous mutation in the HMGCS2 gene on chromosome 1p12."
+BMGC_DS16585,BMG_DS063529,"SNOMEDCT_US: A form of combined T and B cell immunodeficiency with characteristics of severe and persistent cytomegalovirus infection and autoimmune cytopenia. Patients present before the age of one year with severe disseminated cytomegalovirus infection, which can manifest with fever and splenomegaly, and recurrent and severe co-infections including sepsis and pneumonitis. Caused by hypomorphic mutation in the RAG1 gene (11p13). This results in oligoclonal expansion of T cell receptor (TCR) gamma-delta T cells and TCR alpha-beta T cell lymphopenia. Transmission is autosomal recessive."
+BMGC_DS16586,BMG_DS063530,"SNOMEDCT_US: A rare congenital haemorrhagic disorder characterised by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative haemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. Caused by mutations in the P2RY12 gene (3q24-q25) which result in the premature truncation of the P2Y12 receptor or in the synthesis of a dysfunctional P2Y12 receptor. Transmission is autosomal recessive."
+BMGC_DS16587,BMG_DS063532,"SNOMEDCT_US: This syndrome is characterized by myoclonic epilepsy with generalized spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13)."
+BMGC_DS16588,BMG_DS063540,"ORPHANET: Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present."
+BMGC_DS16589,BMG_DS063553,"SNOMEDCT_US: A distinct form of acute myeloid leukemia in which this chromosomal anomaly is found de novo or in therapy-related cases. The disease is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. | MONDO: A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed."
+BMGC_DS16590,BMG_DS063554,"SNOMEDCT_US: An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family."
+BMGC_DS16591,BMG_DS063566,"SNOMEDCT_US: A subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. | MONDO: Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities."
+BMGC_DS16592,BMG_DS063576,"SNOMEDCT_US: An early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. To date, two cases have been described. The disease is caused by a mutation in the dysferlin gene (DYSF) coding for a protein involved in membrane repair. Transmission is autosomal recessive. | MONDO: Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development."
+BMGC_DS16593,BMG_DS063577,"SNOMEDCT_US: A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive. | MONDO: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)."
+BMGC_DS16594,BMG_DS063578,SNOMEDCT_US: A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial deficiency leading to impaired IFN-gamma immunity and consequently recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by heterozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. Microdeletion 818del4 is by far the most common mutation and it corresponds to the first documented hotspot for a microdeletion in the human genome. It leads to the expression of IFN-gamma receptor on the cell surface with no signal transduction and therefore patients only show a partial response to IFN-gamma. Transmission is autosomal dominant.
+BMGC_DS16595,BMG_DS063579,"SNOMEDCT_US: A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Only one patient has been reported with this variant to date. Caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production. Transmission is autosomal recessive. | MONDO: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM)."
+BMGC_DS16596,BMG_DS063580,"SNOMEDCT_US: A very rare severe non-syndromic hypochromic anaemia, which is characterised by transfusion-dependent hypochromic, poorly regenerative anaemia, iron overload, resembling non-syndromic sideroblastic anaemia except for increased erythrocyte protoporphyrin levels. It has been reported in 3 siblings to date. Caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele."
+BMGC_DS16597,BMG_DS063581,"SNOMEDCT_US: A rare mitochondrial disease with characteristics of adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. | MONDO: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases."
+BMGC_DS16598,BMG_DS063586,"SNOMEDCT_US: A rare variant of autosomal recessive congenital ichthyosis. Less than 20 patients are reported in the literature. Large dark scales are present on warmer skin areas such as the trunk, the scalp, and the axillary region. On affected areas, the scales are similar to those observed in lamellar ichthyosis. Caused by specific thermo-sensitive mutations in the TGM1 gene (encoding transglutaminase 1, involved in the cornification of the stratum corneum). Affected skin areas, show a clearly reduced enzyme activity in contrast to healthy skin areas that demonstrate an almost normal enzyme activity. Transmission is autosomal recessive. | MONDO: Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body."
+BMGC_DS16599,BMG_DS063593,SNOMEDCT_US: A patterned dystrophy of the retinal pigment epithelium with characteristics of abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. | MONDO: A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age.
+BMGC_DS16600,BMG_DS063595,"SNOMEDCT_US: A glomerular disease with characteristics of severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life. The disorder has been described in 15 infants from 5 families originating from Portugal, the Netherlands, Italy, Germany and Morocco. The disease is a congenital disorder where infants present at birth with nephrotic syndrome, acute renal failure (oligoanuria and proteinuria), or both. Respiratory distress and hypertension are also observed during the first days of life. Some degree of dysmorphism may be observed in some cases. Mothers do not show any renal manifestations. Caused by the transplacental transfer of nephritogenic anti-NEP antibodies (IgG1, IgG4 subtypes) from mothers with truncating mutations of the MME gene (3q25.2; coding for NEP), resulting in a functional knockout of MME. | MONDO: A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life."
+BMGC_DS16601,BMG_DS063647,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy presenting in the first or second decades of life with characteristics of slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function and mild cardiomyopathy. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy."
+BMGC_DS16602,BMG_DS063654,"SNOMEDCT_US: A form of familial primary hypomagnesemia characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium wasting, hypercalciuria and kidney failure. This disease is characterized by impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop due to mutations in CLDN16 (3q27), which encodes claudin-16 (previously known as paracellin 1). A significant residual function is observed in several missense mutations, whereas a complete loss of claudin-16 function appears to be more severe with disease presenting earlier and often progressing to kidney failure at a significantly younger age. Transmission is autosomal recessive."
+BMGC_DS16603,BMG_DS063662,
+BMGC_DS16604,BMG_DS063663,
+BMGC_DS16605,BMG_DS063668,"SNOMEDCT_US: Autosomal dominant medullary cystic kidney disease is a chronic tubulointerstitial nephropathy, which belongs to a heterogeneous group of inherited tubulo-interstitial nephritis. Less than 60 families affected have been described. Clinical onset and course are insidious. Symptoms typically appear at an average age of 28 years, when the urinary concentrating ability is markedly reduced, producing polyuria and stable low urinary osmolality in the first morning urine and lack of any compensatory effect after endonasal desmopressin. End-stage renal disease typically occurs in the third-fifth decade of life or even later. Two genes have been linked to the disease: MCKD1 (1q21) and MCKD2 (in 16p12, where the gene UMOD, encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible of the disease). | MONDO: A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1)."
+BMGC_DS16606,BMG_DS063672,"SNOMEDCT_US: Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. | MONDO: CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive."
+BMGC_DS16607,BMG_DS063675,"SNOMEDCT_US: An extremely rare metabolic disorder characterised clinically by skin discolouration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. There is evidence that the disease is caused by heterozygous mutation in the BCMO1 gene on chromosome 16q23."
+BMGC_DS16608,BMG_DS063677,"SNOMEDCT_US: The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable."
+BMGC_DS16609,BMG_DS063717,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy with characteristics of slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles and contractures of the ankles. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles."
+BMGC_DS16610,BMG_DS063719,"SNOMEDCT_US: An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease. | MONDO: Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported."
+BMGC_DS16611,BMG_DS063723,"SNOMEDCT_US: This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. | MONDO: This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family."
+BMGC_DS16612,BMG_DS063728,"SNOMEDCT_US: A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease."
+BMGC_DS16613,BMG_DS063733,"SNOMEDCT_US: A rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Caused by mutation in the UBE2A gene on chromosome Xq24."
+BMGC_DS16614,BMG_DS063740,"MONDO: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination."
+BMGC_DS16615,BMG_DS063747,"SNOMEDCT_US: A very rare slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. The disease is caused by homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21. | MONDO: COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder."
+BMGC_DS16616,BMG_DS063751,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy with characteristics of childhood-onset progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly ocular features (e.g. myopia, cataract) and seizures. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the TRAPPC11 gene on chromosome 4q35. | MONDO: A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures."
+BMGC_DS16617,BMG_DS063752,"SNOMEDCT_US: A form of limb-girdle muscular dystrophy that can present from birth to early childhood, the disease has characteristics of hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. The disease is caused by homozygous or compound heterozygous mutation in the GMPPB gene, which encodes the beta subunit of GDP-mannose pyrophosphorylase, on chromosome 3p21. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency."
+BMGC_DS16618,BMG_DS063759,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retro-micrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21)."
+BMGC_DS16619,BMG_DS063766,"SNOMEDCT_US: A very rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering confined primarily to the hands and feet. The disease usually manifests during infancy with trauma-induced blisters limited to extremities. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. Transmission is autosomal dominant (acral dominant dystrophic epidermolysis bullosa) or autosomal recessive (acral recessive dystrophic epidermolysis bullosa). | MONDO: Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet."
+BMGC_DS16620,BMG_DS063814,SNOMEDCT_US: Syndrome with characteristics of a specific natural-killer cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene is within a 12-Mb region on chromosome 8p11.23-q11.21.
+BMGC_DS16621,BMG_DS063815,"SNOMEDCT_US: A very rare hereditary neurological dysmorphic syndrome with characteristics of moyamoya disease, short stature of postnatal onset and stereotypical facial dysmorphism. The syndrome is extremely rare and has been reported in three unrelated families to date, with 10 affected individuals in several generations. These families are not from Japan or Asia, whereas in general the incidence of moyamoya disease is highest in Japan and other Asian countries, in comparison with other parts of the world. Affected patients are all male (X-linked inheritance) and have moyamoya angiopathy (progressive stenosis of the terminal portion of the intracranial internal carotid arteries), short stature, hypergonadotropic hypogonadism and other variable manifestations.. The genetic cause appears to involve Xq28 deletions removing MTCP1/CMC4 and BRCC3 (Xq28) .The specific pathophysiological mechanisms underlying this disorder remain obscure, but appear to involve alteration in DNA repair."
+BMGC_DS16622,BMG_DS063817,"SNOMEDCT_US: A rare indolent subtype of clear cell renal carcinoma arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. | MONDO: Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome."
+BMGC_DS16623,BMG_DS063820,"SNOMEDCT_US: A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. | MONDO: Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis."
+BMGC_DS16624,BMG_DS063821,"SNOMEDCT_US: Disease with characteristics of the adult-onset (average age 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. | MONDO: Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy."
+BMGC_DS16625,BMG_DS063822,"SNOMEDCT_US: A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16."
+BMGC_DS16626,BMG_DS063825,"SNOMEDCT_US: Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23. | MONDO: Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma."
+BMGC_DS16627,BMG_DS063827,"SNOMEDCT_US: A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype. The disease has characteristics of prematurity, pre and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow up slanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognathia and pointed chin."
+BMGC_DS16628,BMG_DS063828,"SNOMEDCT_US: A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12 with a highly variable phenotype. The disorder has typical characteristics of developmental delay, learning disability, intrauterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. | MONDO: 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated."
+BMGC_DS16629,BMG_DS063830,"SNOMEDCT_US: A rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harbouring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include haematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anaemia, fatigue and fever. | MONDO: MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever."
+BMGC_DS16630,BMG_DS063883,"SNOMEDCT_US: An extremely rare inherited form of progressive myoclonic epilepsy with characteristics of progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. There is evidence the disease is caused by homozygous mutation in the PRDM8 gene on chromosome 4q21."
+BMGC_DS16631,BMG_DS063924,"MONDO: This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children."
+BMGC_DS16632,BMG_DS063944,
+BMGC_DS16633,BMG_DS063949,"SNOMEDCT_US: An extremely rare genetic bone disorder with characteristics of the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia, cognitive impairment, and abnormal eye movements), associated with the skeletal anomalies found in Jeune asphyxiating thoracic dystrophy including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs and metaphyseal changes. | MONDO: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes."
+BMGC_DS16634,BMG_DS063951,"SNOMEDCT_US: An extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhoea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. | MONDO: Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid."
+BMGC_DS16635,BMG_DS063952,SNOMEDCT_US: An extremely rare autosomal recessive gastroenterological disorder reported in three families so far characterised by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhoea in infancy. Homozygous mutations in the GUCY2C gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance. | MONDO: Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.
+BMGC_DS16636,BMG_DS063954,"SNOMEDCT_US: A form of congenital disorders of N-linked glycosylation with characteristics of intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). | MONDO: MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3)."
+BMGC_DS16637,BMG_DS063955,"SNOMEDCT_US: A peroxisomal neurodegenerative disorder with characteristics of spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotropic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. There is evidence this disease is caused by homozygous mutation in the SCP2 gene on chromosome 1p32."
+BMGC_DS16638,BMG_DS063956,"SNOMEDCT_US: A life-threatening multi organ disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. There is evidence this disease is caused by homozygous mutation in the ITGA3 gene on chromosome 17q21. | MONDO: A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair."
+BMGC_DS16639,BMG_DS063958,"SNOMEDCT_US: An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterised by generalised joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. | MONDO: Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures."
+BMGC_DS16640,BMG_DS063964,"SNOMEDCT_US: A neuromuscular disease with characteristics of progressive symmetric muscle weakness of anterior upper and posterior lower limbs. It has been described in several members of an Australian and an Italian family. The disease usually manifests during the third decade of life with thenar muscle weakness resulting in reduced grip strength. The disease is slowly progressive and generally proceeds with calf muscle weakness appearing during the fourth decade and proximal muscles becoming perceptibly affected in the fifth decade. The disease is due to mutations on the actin-binding domain of the FLNC gene that encodes filamin C, a muscle specific filamin that is also associated with myofibrillar myopathy when mutations affect other parts of the protein. The disease mechanism seems to be linked to an increased actin-binding affinity of filamin C."
+BMGC_DS16641,BMG_DS063967,"SNOMEDCT_US: A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17. The disease is characterized by renal cystic disease, maturity onset diabetes of the young type 5 and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia has also been reported."
+BMGC_DS16642,BMG_DS063969,"SNOMEDCT_US: A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16. The disease has a highly variable phenotype with typical characteristics of developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated."
+BMGC_DS16643,BMG_DS063971,"SNOMEDCT_US: A rare subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anaemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. | MONDO: Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported."
+BMGC_DS16644,BMG_DS063972,"SNOMEDCT_US: An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle. The disease has a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."
+BMGC_DS16645,BMG_DS063973,"SNOMEDCT_US: A mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain. The disease has characteristics of severe hypertrophic cardiomyopathy, pulmonary hypoplasia, muscle weakness and neurological involvement. Caused by homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21. | MONDO: Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement."
+BMGC_DS16646,BMG_DS064121,NCI: Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. | MONDO: An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
+BMGC_DS16647,BMG_DS064123,"ORPHANET: Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. | MONDO: An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies."
+BMGC_DS16648,BMG_DS064125,HPO: Abnormality of the basal ganglia. [https://orcid.org/0000-0002-0736-9199] | MONDO: A disease involving the basal ganglia.
+BMGC_DS16649,BMG_DS064126,"NCI: A congenital disorder characterized by blockage or absence of the extrahepatic bile ducts. | MONDO: A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow."
+BMGC_DS16650,BMG_DS064127,"ORPHANET: A rare type of juvenile idiopathic arthritis characterized by arthritis with an onset prior to the age of 16 years persisting for longer than six weeks and affecting at least five joints during the first six months of the disease. Other possible causes of joint inflammation must be excluded. Two subgroups of the disease can be distinguished, based on the presence of absence of rheumatoid factor. Both subgroups are more common in girls and may be associated with mild fever, weight loss, anemia, moderate hepatosplenomegaly, and mild growth retardation."
+BMGC_DS16651,BMG_DS064129,
+BMGC_DS16652,BMG_DS064134,
+BMGC_DS16653,BMG_DS064135,
+BMGC_DS16654,BMG_DS064136,"ORPHANET: A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association."
+BMGC_DS16655,BMG_DS064137,
+BMGC_DS16656,BMG_DS064140,"ORPHANET: A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria."
+BMGC_DS16657,BMG_DS064151,"NCI: High-grade B-cell lymphoma characterized by the abnormal rearrangement of MYC gene, BCL2 gene, and/or BCL6 gene. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis."
+BMGC_DS16658,BMG_DS064158,NCI: A rare anaplastic large cell lymphoma that develops in individuals with breast implants. It usually presents as an accumulation of seroma fluid between the implant and the surrounding fibrous capsule. The median interval from the time of the implant to the development of lymphoma is approximately 10 years.
+BMGC_DS16659,BMG_DS064166,
+BMGC_DS16660,BMG_DS064168,
+BMGC_DS16661,BMG_DS064169,
+BMGC_DS16662,BMG_DS064170,"ORPHANET: A rare genetic disease characterized by CD55 deficiency with complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy with abdominal pain, diarrhea, vomiting, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption, leading to anemia and growth delay. Bowel inflammation and recurrent infections associated with hypogammaglobulinemia may also be observed."
+BMGC_DS16663,BMG_DS064171,
+BMGC_DS16664,BMG_DS064173,
+BMGC_DS16665,BMG_DS064174,
+BMGC_DS16666,BMG_DS064175,
+BMGC_DS16667,BMG_DS064179,
+BMGC_DS16668,BMG_DS064182,
+BMGC_DS16669,BMG_DS064184,
+BMGC_DS16670,BMG_DS064185,
+BMGC_DS16671,BMG_DS064186,
+BMGC_DS16672,BMG_DS064187,
+BMGC_DS16673,BMG_DS064188,
+BMGC_DS16674,BMG_DS064189,
+BMGC_DS16675,BMG_DS064190,
+BMGC_DS16676,BMG_DS064191,
+BMGC_DS16677,BMG_DS064192,
+BMGC_DS16678,BMG_DS064193,
+BMGC_DS16679,BMG_DS064194,
+BMGC_DS16680,BMG_DS064195,
+BMGC_DS16681,BMG_DS064196,
+BMGC_DS16682,BMG_DS064197,
+BMGC_DS16683,BMG_DS064198,"MONDO: A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22."
+BMGC_DS16684,BMG_DS064199,
+BMGC_DS16685,BMG_DS064200,
+BMGC_DS16686,BMG_DS064201,
+BMGC_DS16687,BMG_DS064202,
+BMGC_DS16688,BMG_DS064203,
+BMGC_DS16689,BMG_DS064204,
+BMGC_DS16690,BMG_DS064205,
+BMGC_DS16691,BMG_DS064206,
+BMGC_DS16692,BMG_DS064207,MONDO: Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.
+BMGC_DS16693,BMG_DS064208,"ORPHANET: A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood."
+BMGC_DS16694,BMG_DS064209,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, seizures, abnormal gait and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles."
+BMGC_DS16695,BMG_DS064210,
+BMGC_DS16696,BMG_DS064211,
+BMGC_DS16697,BMG_DS064212,
+BMGC_DS16698,BMG_DS064213,
+BMGC_DS16699,BMG_DS064214,
+BMGC_DS16700,BMG_DS064215,
+BMGC_DS16701,BMG_DS064216,"NCI: An autosomal dominant condition caused by mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by the onset of moderate to severe atopic dermatitis in early childhood, defects in T-cell activation, increased IgE, and eosinophilia."
+BMGC_DS16702,BMG_DS064217,
+BMGC_DS16703,BMG_DS064218,
+BMGC_DS16704,BMG_DS064219,
+BMGC_DS16705,BMG_DS064220,
+BMGC_DS16706,BMG_DS064221,
+BMGC_DS16707,BMG_DS064222,
+BMGC_DS16708,BMG_DS064223,
+BMGC_DS16709,BMG_DS064224,
+BMGC_DS16710,BMG_DS064225,"ORPHANET: A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss."
+BMGC_DS16711,BMG_DS064226,
+BMGC_DS16712,BMG_DS064227,
+BMGC_DS16713,BMG_DS064228,MONDO: A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes are affected.
+BMGC_DS16714,BMG_DS064229,
+BMGC_DS16715,BMG_DS064230,
+BMGC_DS16716,BMG_DS064231,
+BMGC_DS16717,BMG_DS064232,
+BMGC_DS16718,BMG_DS064233,
+BMGC_DS16719,BMG_DS064234,"ORPHANET: A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy."
+BMGC_DS16720,BMG_DS064235,MONDO: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.
+BMGC_DS16721,BMG_DS064236,"ORPHANET: A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated."
+BMGC_DS16722,BMG_DS064237,
+BMGC_DS16723,BMG_DS064238,
+BMGC_DS16724,BMG_DS064239,"MONDO: Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})."
+BMGC_DS16725,BMG_DS064240,"ORPHANET: A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others."
+BMGC_DS16726,BMG_DS064241,"ORPHANET: A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities."
+BMGC_DS16727,BMG_DS064242,
+BMGC_DS16728,BMG_DS064243,
+BMGC_DS16729,BMG_DS064244,
+BMGC_DS16730,BMG_DS064245,"ORPHANET: A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis, a more protracted course with early-onset developmental delay, motor weakness, extrapyramidal signs, and with or without epilepsy, and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include cardiomyopathy, optic anomalies, hepatosplenomegaly, and abnormal brain MRI findings, among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent."
+BMGC_DS16731,BMG_DS064246,
+BMGC_DS16732,BMG_DS064247,
+BMGC_DS16733,BMG_DS064248,"NCI: An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable."
+BMGC_DS16734,BMG_DS064249,
+BMGC_DS16735,BMG_DS064250,
+BMGC_DS16736,BMG_DS064253,
+BMGC_DS16737,BMG_DS064254,
+BMGC_DS16738,BMG_DS064255,
+BMGC_DS16739,BMG_DS064256,
+BMGC_DS16740,BMG_DS064257,
+BMGC_DS16741,BMG_DS064258,"NCI: An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects."
+BMGC_DS16742,BMG_DS064259,
+BMGC_DS16743,BMG_DS064260,
+BMGC_DS16744,BMG_DS064261,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, behavioral problems, stereotypic movements, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth), among others. Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria, or white matter abnormalities."
+BMGC_DS16745,BMG_DS064262,
+BMGC_DS16746,BMG_DS064263,
+BMGC_DS16747,BMG_DS064264,
+BMGC_DS16748,BMG_DS064265,
+BMGC_DS16749,BMG_DS064266,
+BMGC_DS16750,BMG_DS064267,"ORPHANET: A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination."
+BMGC_DS16751,BMG_DS064268,
+BMGC_DS16752,BMG_DS064270,
+BMGC_DS16753,BMG_DS064271,
+BMGC_DS16754,BMG_DS064272,
+BMGC_DS16755,BMG_DS064273,"ORPHANET: A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy."
+BMGC_DS16756,BMG_DS064274,"ORPHANET: A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent."
+BMGC_DS16757,BMG_DS064275,
+BMGC_DS16758,BMG_DS064276,MONDO: An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.
+BMGC_DS16759,BMG_DS064277,
+BMGC_DS16760,BMG_DS064278,
+BMGC_DS16761,BMG_DS064279,
+BMGC_DS16762,BMG_DS064280,
+BMGC_DS16763,BMG_DS064281,
+BMGC_DS16764,BMG_DS064282,
+BMGC_DS16765,BMG_DS064283,
+BMGC_DS16766,BMG_DS064284,
+BMGC_DS16767,BMG_DS064285,
+BMGC_DS16768,BMG_DS064286,
+BMGC_DS16769,BMG_DS064287,"MONDO: A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual development, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility"
+BMGC_DS16770,BMG_DS064288,
+BMGC_DS16771,BMG_DS064289,
+BMGC_DS16772,BMG_DS064290,MONDO: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.
+BMGC_DS16773,BMG_DS064291,
+BMGC_DS16774,BMG_DS064292,"ORPHANET: A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. | MONDO: A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated."
+BMGC_DS16775,BMG_DS064293,
+BMGC_DS16776,BMG_DS064294,
+BMGC_DS16777,BMG_DS064299,
+BMGC_DS16778,BMG_DS064302,
+BMGC_DS16779,BMG_DS064305,MONDO: A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.
+BMGC_DS16780,BMG_DS064510,
+BMGC_DS16781,BMG_DS064519,
+BMGC_DS16782,BMG_DS064618,"ORPHANET: A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions)."
+BMGC_DS16783,BMG_DS064824,"MeSH: Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain."
+BMGC_DS16784,BMG_DS064898,"SNOMEDCT_US: A rare parkinsonian disorder with characteristics of unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated. | MONDO: Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated."
+BMGC_DS16785,BMG_DS064942,"SNOMEDCT_US: A rare malignant neoplastic disease characterised by clonal proliferation of myeloid and/or lymphoid precursors harbouring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin). It usually presents as chronic eosinophilic leukaemia or, less commonly, as acute myeloid leukaemia or T-lymphoblastic leukaemia with eosinophilia. Patients usually present with eosinophilia, anaemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. | MONDO: A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy."
+BMGC_DS16786,BMG_DS064976,"MONDO: A congenital birth syndrome that arises from materal Zika infection. | MeSH: A viral disease transmitted by the bite of AEDES mosquitoes infected with ZIKA VIRUS. Its mild DENGUE-like symptoms include fever, rash, headaches and ARTHRALGIA. The viral infection during pregnancy, in rare cases, is associated with congenital brain and ocular abnormalities, called Congenital Zika Syndrome, including MICROCEPHALY and may also lead to GUILLAIN-BARRE SYNDROME."
+BMGC_DS16787,BMG_DS065013,
+BMGC_DS16788,BMG_DS065225,MONDO: Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.
+BMGC_DS16789,BMG_DS065226,MONDO: Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.
+BMGC_DS16790,BMG_DS065227,MONDO: Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
+BMGC_DS16791,BMG_DS065228,MeSH: Abnormal development of cartilage and bone.
+BMGC_DS16792,BMG_DS065229,
+BMGC_DS16793,BMG_DS065230,
+BMGC_DS16794,BMG_DS065231,MONDO: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.
+BMGC_DS16795,BMG_DS065232,MONDO: Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene.
+BMGC_DS16796,BMG_DS065233,"MONDO: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24. | MeSH: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES."
+BMGC_DS16797,BMG_DS065234,
+BMGC_DS16798,BMG_DS065235,HPO: Uvula separated into two parts most easily seen at the tip. [PMID:19125428] | MONDO: Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.
+BMGC_DS16799,BMG_DS065236,"HPO: A left-right reversal (or mirror reflection"") of the anatomical location of the major thoracic and abdominal organs."" [HPO_CONTRIBUTOR:DDD_dbrown, https://orcid.org/0000-0002-0736-9199] | MONDO: A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning)."
+BMGC_DS16800,BMG_DS065238,MONDO: Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.
+BMGC_DS16801,BMG_DS065239,"MONDO: A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age."
+BMGC_DS16802,BMG_DS065242,
+BMGC_DS16803,BMG_DS065243,MeSH: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
+BMGC_DS16804,BMG_DS065244,"NCI: An autosomal dominant condition caused by mutation(s) in the OSMR gene, encoding oncostatin-M-specific receptor subunit beta. It is characterized by localized cutaneous amyloidosis. | MONDO: Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene."
+BMGC_DS16805,BMG_DS065245,MONDO: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.
+BMGC_DS16806,BMG_DS065246,
+BMGC_DS16807,BMG_DS065247,"NCI: Oculocutaneous albinism inherited in an autosomal recessive pattern, and caused by mutation(s) in the TYR gene, encoding tyrosinase. | MONDO: Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves."
+BMGC_DS16808,BMG_DS065248,"NCI: An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma. | MONDO: 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults."
+BMGC_DS16809,BMG_DS065249,MONDO: Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.
+BMGC_DS16810,BMG_DS065250,NCI: An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. | MONDO: An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.
+BMGC_DS16811,BMG_DS065251,MONDO: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. | MeSH: A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
+BMGC_DS16812,BMG_DS065252,MONDO: Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.
+BMGC_DS16813,BMG_DS065253,"SNOMEDCT_US: A constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid."
+BMGC_DS16814,BMG_DS065254,
+BMGC_DS16815,BMG_DS065255,MONDO: Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth. | MeSH: A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive.
+BMGC_DS16816,BMG_DS065256,"ORPHANET: A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. | MONDO: A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative."
+BMGC_DS16817,BMG_DS065257,"HPO: Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. [PMID:29489275] | MONDO: Paralysis of the abducens nerve. | MeSH: Diseases of the sixth cranial (abducens) nerve or its nucleus in the pons. The nerve may be injured along its course in the pons, intracranially as it travels along the base of the brain, in the cavernous sinus, or at the level of superior orbital fissure or orbit. Dysfunction of the nerve causes lateral rectus muscle weakness, resulting in horizontal diplopia that is maximal when the affected eye is abducted and ESOTROPIA. Common conditions associated with nerve injury include INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; ISCHEMIA; and INFRATENTORIAL NEOPLASMS."
+BMGC_DS16818,BMG_DS065258,MONDO: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.
+BMGC_DS16819,BMG_DS065260,
+BMGC_DS16820,BMG_DS065261,ORPHANET: A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. | MONDO: A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.
+BMGC_DS16821,BMG_DS065262,MONDO: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene.
+BMGC_DS16822,BMG_DS065263,MONDO: Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene.
+BMGC_DS16823,BMG_DS065264,"NCI: An autosomal recessive condition caused by mutation(s) in the DNMT3B gene, encoding DNA (cytosine-5)-methyltransferase 3B. It is characterized by immunoglobulin deficiency, centromeric instability of chromosomes 1,9, and 19 (rarely chromosome 2), and facial dysmorphism. | MONDO: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene."
+BMGC_DS16824,BMG_DS065265,MONDO: Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.
+BMGC_DS16825,BMG_DS065266,MONDO: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.
+BMGC_DS16826,BMG_DS065267,
+BMGC_DS16827,BMG_DS065268,"HPO: Head circumference below 2 standard deviations below the mean for age and gender. [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597] | MONDO: A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex."
+BMGC_DS16828,BMG_DS065270,MONDO: Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.
+BMGC_DS16829,BMG_DS065271,"MONDO: Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."
+BMGC_DS16830,BMG_DS065272,"NCI: A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the PDGFRB gene, encoding platelet-derived growth factor receptor beta. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. The lesions may be present at birth or become apparent in early infancy or even occasionally in adult life. | MONDO: Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene."
+BMGC_DS16831,BMG_DS065273,
+BMGC_DS16832,BMG_DS065274,HPO: Atrophy of the cortex of the cerebrum. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS16833,BMG_DS065275,HPO: Partial or complete wasting (loss) of brain tissue that was once present. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS16834,BMG_DS065276,
+BMGC_DS16835,BMG_DS065277,ORPHANET: A genetic renal tubular disorder characterized by urinary urate wasting that typically leads to asymptomatic hypouricemia and predisposes to urolithiasis and exercise-induced acute renal failure (EIARF). | MONDO: Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).
+BMGC_DS16836,BMG_DS065278,
+BMGC_DS16837,BMG_DS065280,"MeSH: FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cholangitis involves the destruction of small intra-hepatic bile ducts and decreased bile secretion. Secondary biliary cholangitis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes."
+BMGC_DS16838,BMG_DS065281,"NCI: Noonan syndrome caused by mutations in the PTPN11 gene. | MONDO: Noonan syndrome caused by mutations in the PTPN11 gene. | MeSH: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1."
+BMGC_DS16839,BMG_DS065282,"MONDO: Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms."
+BMGC_DS16840,BMG_DS065283,"NCI: An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia. | MONDO: A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration."
+BMGC_DS16841,BMG_DS065284,"SNOMEDCT_US: A rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. There is evidence the disease can be caused by homozygous or heterozygous mutation in the PLCD1 gene on chromosome 3p22-p21.3. | MONDO: Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present."
+BMGC_DS16842,BMG_DS065285,HPO: An abnormally reduced number of granulocytes in the blood. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS16843,BMG_DS065286,"MONDO: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene. | MeSH: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate."
+BMGC_DS16844,BMG_DS065287,HPO: A recurrent form of pancreatitis. [https://orcid.org/0000-0002-0736-9199]
+BMGC_DS16845,BMG_DS065291,ORPHANET: Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. | MONDO: Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
+BMGC_DS16846,BMG_DS065292,MeSH: A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
+BMGC_DS16847,BMG_DS065293,"MONDO: A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. | MeSH: Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males."
+BMGC_DS16848,BMG_DS065294,HPO: A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. [https://orcid.org/0000-0002-0736-9199] | MeSH: A stricture of the ESOPHAGUS. Most are acquired but can be congenital.
+BMGC_DS16849,BMG_DS065296,HPO: A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina. [https://orcid.org/0000-0003-0986-4123]
+BMGC_DS16850,BMG_DS065297,
+BMGC_DS16851,BMG_DS065299,MeSH: Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
+BMGC_DS16852,BMG_DS065301,"NCI: An autosomal recessive condition caused by mutation(s) in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase. It is characterized by digital clubbing, pachydermia, and hyperhidrosis. | MONDO: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene."
+BMGC_DS16853,BMG_DS065303,"MONDO: A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people. | MeSH: Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people."
+BMGC_DS16854,BMG_DS065304,"MONDO: A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present."
+BMGC_DS16855,BMG_DS065307,"NCI: A group of breathing disorders characterized by abnormal respiratory patterns or insufficient ventilation during sleep. | MeSH: Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types."
+BMGC_DS16856,BMG_DS065308,NCI: Narrowing of the lumen of the urethra. | MONDO: Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms.
+BMGC_DS16857,BMG_DS065309,"MONDO: Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene. | MeSH: A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein."
+BMGC_DS16858,BMG_DS065310,"MeSH: An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)"
+BMGC_DS16859,BMG_DS065311,"HPO: An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. [https://orcid.org/0000-0002-0736-9199, PMID:20212494] | MeSH: Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness."
+BMGC_DS16860,BMG_DS065312,HPO: An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. [https://orcid.org/0000-0003-0986-4123]
+BMGC_DS16861,BMG_DS065313,"ORPHANET: A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). | MeSH: Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms."
+BMGC_DS16862,BMG_DS065314,MONDO: Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.
+BMGC_DS16863,BMG_DS065315,"HPO: A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. [https://orcid.org/0000-0003-0986-4123] | MeSH: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze."
+BMGC_DS16864,BMG_DS065317,"MONDO: A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13."
+BMGC_DS16865,BMG_DS065318,"MeSH: A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)"
+BMGC_DS16866,BMG_DS065319,"SNOMEDCT_US: A genetic disorder with characteristics of intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. The syndrome is caused by either a point mutation in the euchromatic histone-lysine N-methyltransferase 1 (EHMT1) gene (rarely) or by a microdeletion in the chromosome region 9q34.3 (seen in more than 85% of cases), leading to the loss of the entire gene. This gene encodes an enzyme that modifies histone function and is essential for normal development. Larger deletions (greater than 1mb) are associated with more severe symptoms. | MONDO: A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features."
+BMGC_DS16867,BMG_DS065320,
+BMGC_DS16868,BMG_DS065321,MONDO: Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.
+BMGC_DS16869,BMG_DS065322,"ORPHANET: A rare, genetic congenital malformation syndrome characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresia (primarily esophageal and/or duodenal), and mild-to-moderate learning disability. | MONDO: Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies."
+BMGC_DS16870,BMG_DS065323,"NCI: An autosomal recessive condition caused by mutation(s) in the COL18A1 gene, encoding collagen alpha-1(XVIII) chain. It is characterized by eye abnormalities, including high myopia and vitreoretinal degeneration."
+BMGC_DS16871,BMG_DS065324,MONDO: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.
+BMGC_DS16872,BMG_DS065326,MONDO: Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene. | MeSH: An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
+BMGC_DS16873,BMG_DS065327,MONDO: Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.
+BMGC_DS16874,BMG_DS065328,"NCI: An autosomal recessive disorder caused by mutations in the CUBN or AMN genes. It is characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth). | MONDO: Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood."
+BMGC_DS16875,BMG_DS065329,
+BMGC_DS16876,BMG_DS065330,
+BMGC_DS16877,BMG_DS065331,"MeSH: Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME)."
+BMGC_DS16878,BMG_DS065333,"MONDO: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene. | MeSH: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)"
+BMGC_DS16879,BMG_DS065334,MONDO: Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.
+BMGC_DS16880,BMG_DS065335,MONDO: An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
+BMGC_DS16881,BMG_DS065336,MeSH: Retrograde flow of urine from the URINARY BLADDER into the URETER. This is often due to incompetence of the vesicoureteral valve.
+BMGC_DS16882,BMG_DS065337,"NCI: The most common form of Rubinstein-Taybi syndrome, caused by a mutation in the CREB binding protein (CREBBP) gene. | MONDO: Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene."
+BMGC_DS16883,BMG_DS065338,"ORPHANET: A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood. | MONDO: Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence."
+BMGC_DS16884,BMG_DS065339,"MeSH: An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA."
+BMGC_DS16885,BMG_DS065340,"MeSH: A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)"
+BMGC_DS16886,BMG_DS065341,"MONDO: Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. | MeSH: A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)"
+BMGC_DS16887,BMG_DS065342,MONDO: Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.
+BMGC_DS16888,BMG_DS065343,MONDO: Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.
+BMGC_DS16889,BMG_DS065345,"MONDO: Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene. | MeSH: A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations."
+BMGC_DS16890,BMG_DS065346,"SNOMEDCT_US: An infantile hereditary disorder of bile formation that is hepatocellular in origin and associated with extrahepatic features. Onset occurs mostly during infancy with clinical signs of cholestasis with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Caused by mutations in the ATP8B1 gene (18q21-22) encoding the FIC1 protein expressed at the canalicular membrane of hepatocytes as well as in other epithelia. Transmission is autosomal recessive. | MONDO: PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features."
+BMGC_DS16891,BMG_DS065347,"MONDO: Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity."
+BMGC_DS16892,BMG_DS065348,
+BMGC_DS16893,BMG_DS065349,MONDO: Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene. | MeSH: Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
+BMGC_DS16894,BMG_DS065350,"NCI: A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth. | MONDO: Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure."
+BMGC_DS16895,BMG_DS065352,"NCI: An autosomal recessive primary ciliary motility defect caused by mutation(s) in the DNAI1 gene, encoding dynein intermediate chain 1, axonemal. | MONDO: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene. | MeSH: An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts."
+BMGC_DS16896,BMG_DS065353,"NCI: A subtype of Guillain-Barre syndrome that targets the myelin sheath, and is characterized by progressive weakness, distal paresthesia and autonomic dysfunction. | MONDO: An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS). | MeSH: An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)"
+BMGC_DS16897,BMG_DS065355,"NCI: An autosomal recessive condition caused by mutation(s) in the DCHS1 gene, encoding protocadherin-16. It is characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, skeletal and limb malformations, and may include renal hypoplasia. Periventricular nodular heterotopia is often noted on MRI. | MONDO: Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene."
+BMGC_DS16898,BMG_DS065356,"NCI: A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia. | MONDO: A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia."
+BMGC_DS16899,BMG_DS065357,"NCI: A myopathy inherited in an autosomal dominant or recessive pattern, caused by mutations in the DNM2, BIN1, and TTN genes. Microscopically there is central displacement of the nucleus in muscle cells. It is characterized by muscle weakness and atrophy in the skeletal muscles. | MONDO: An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. | MeSH: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality."
+BMGC_DS16900,BMG_DS065358,
+BMGC_DS16901,BMG_DS065359,"MONDO: A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."
+BMGC_DS16902,BMG_DS065360,"MONDO: A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. | MeSH: An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME."
+BMGC_DS16903,BMG_DS065361,"NCI: An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations. | MONDO: An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations."
+BMGC_DS16904,BMG_DS065362,"MONDO: Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene."
+BMGC_DS16905,BMG_DS065363,MONDO: Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.
+BMGC_DS16906,BMG_DS065364,
+BMGC_DS16907,BMG_DS065365,"MONDO: A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors."
+BMGC_DS16908,BMG_DS065366,MONDO: Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.
+BMGC_DS16909,BMG_DS065367,
+BMGC_DS16910,BMG_DS065368,
+BMGC_DS16911,BMG_DS065369,"NCI: A genetic condition usually inherited in an autosomal dominant pattern. It is caused by mutation(s) in the SCL2A1 gene, encoding solute carrier family 2, facilitated glucose transporter member 1. It is characterized by wide phenotypic variability, but may include infantile onset epileptic encephalopathy with delayed development, acquired microcephaly, motor dysfunction, and spasticity. | MONDO: Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation."
+BMGC_DS16912,BMG_DS065370,"NCI: An autosomal dominant condition caused by heterozygous germline gain-of-function mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by splenomegaly and lymphocytosis resulting from polyclonal expansion of B-cells. | MONDO: BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results."
+BMGC_DS16913,BMG_DS065371,"MONDO: Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients. | MeSH: Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)"
+BMGC_DS16914,BMG_DS065372,"MeSH: A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches."
+BMGC_DS16915,BMG_DS065373,
+BMGC_DS16916,BMG_DS065374,ORPHANET: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. | MONDO: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
+BMGC_DS16917,BMG_DS065375,"NCI: A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized by weakness and atrophy in the muscles of the upper and lower limbs. | MONDO: Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene."
+BMGC_DS16918,BMG_DS065376,"NCI: Dyskeratosis congenita caused by autosomal dominant mutation(s) in the TERC gene, encoding telomerase RNA component. | MONDO: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2."
+BMGC_DS16919,BMG_DS065377,MONDO: Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.
+BMGC_DS16920,BMG_DS065378,MONDO: Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.
+BMGC_DS16921,BMG_DS065380,
+BMGC_DS16922,BMG_DS065381,MONDO: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.
+BMGC_DS16923,BMG_DS065382,MONDO: Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene.
+BMGC_DS16924,BMG_DS065383,"NCI: An autosomal dominant familial form of epilepsy caused by mutation(s) in the DEPDC5 gene, encoding GATOR complex protein DEPDC5. It is characterized by focal seizures usually arising from the frontal or temporal lobe. The onset of seizures may occur from infancy to adulthood. | MONDO: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene."
+BMGC_DS16925,BMG_DS065384,"SNOMEDCT_US: A multisystem disorder with characteristics of neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Mutations in the VPS33B gene (15q26.1) have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay. | MONDO: Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity."
+BMGC_DS16926,BMG_DS065385,"NCI: An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications. | MONDO: An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications."
+BMGC_DS16927,BMG_DS065386,
+BMGC_DS16928,BMG_DS065387,
+BMGC_DS16929,BMG_DS065388,MONDO: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.
+BMGC_DS16930,BMG_DS065390,MONDO: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene.
+BMGC_DS16931,BMG_DS065391,
+BMGC_DS16932,BMG_DS065392,MONDO: An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.
+BMGC_DS16933,BMG_DS065393,
+BMGC_DS16934,BMG_DS065394,MONDO: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.
+BMGC_DS16935,BMG_DS065395,"MONDO: Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene. | MeSH: Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types."
+BMGC_DS16936,BMG_DS065396,MONDO: Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
+BMGC_DS16937,BMG_DS065397,"NCI: An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder."
+BMGC_DS16938,BMG_DS065398,MONDO: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.
+BMGC_DS16939,BMG_DS065399,MONDO: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.
+BMGC_DS16940,BMG_DS065400,"SNOMEDCT_US: A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars."
+BMGC_DS16941,BMG_DS065401,"SNOMEDCT_US: Disease with characteristics of early-onset selective weakness of the great toe and ankle dorsiflexors and a very slowly progressive course. Age at onset varies from 4 to 5 years to the early twenties. Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease. Caused by mutation of the MYH7 gene (14q11) and transmitted as an autosomal dominant trait. | MONDO: Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | MeSH: A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive."
+BMGC_DS16942,BMG_DS065402,"HPO: A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). [https://orcid.org/0000-0002-0538-4547]"
+BMGC_DS16943,BMG_DS065404,MONDO: Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.
+BMGC_DS16944,BMG_DS065405,
+BMGC_DS16945,BMG_DS065406,"NCI: An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder."
+BMGC_DS16946,BMG_DS065407,
+BMGC_DS16947,BMG_DS065408,MONDO: Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene.
+BMGC_DS16948,BMG_DS065409,"NCI: An autosomal dominant type of primary pulmonary hypertension caused by mutation(s) in the BMPR2 gene, encoding bone morphogenetic protein receptor type-2. | MONDO: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. | MeSH: Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease."
+BMGC_DS16949,BMG_DS065410,"SNOMEDCT_US: A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. Caused by mutation in the aristaless-related homeobox gene (ARX) on chromosome Xp21. | MONDO: Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability."
+BMGC_DS16950,BMG_DS065411,
+BMGC_DS16951,BMG_DS065412,"ORPHANET: A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in &lt;i&gt;FMR1&lt;/i&gt; gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause. | MONDO: Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene. | MeSH: Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene."
+BMGC_DS16952,BMG_DS065413,
+BMGC_DS16953,BMG_DS065414,"MeSH: Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent."
+BMGC_DS16954,BMG_DS065415,MONDO: Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.
+BMGC_DS16955,BMG_DS065416,"MONDO: Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). | MeSH: A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities."
+BMGC_DS16956,BMG_DS065417,"NCI: An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. | MONDO: An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. | MeSH: A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer."
+BMGC_DS16957,BMG_DS065420,"ORPHANET: A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases. | MONDO: Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein."
+BMGC_DS16958,BMG_DS065423,"SNOMEDCT_US: A rare systemic disease characterized by acute or subacute onset of thrombocytopenia, anasarca (edema, pleural effusion, ascites) and systemic inflammation (fever and/or elevated C-reactive protein). Minor diagnostic categories are Castleman disease-like features on lymph node biopsy, reticulin myelofibrosis and/or increased number of megakaryocytes in bone marrow, progressive renal insufficiency and mild organomegaly including hepatosplenomegaly and lymphadenopathy. Most patients show elevated levels of serum alkaline phosphatase while marked polyclonal hypergammopathy is rare. | MONDO: A clinicopathologic variant of multicentric Castleman's disease characterized by thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly"
+BMGC_DS16959,BMG_DS065438,"MeSH: A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)"
+BMGC_DS16960,BMG_DS065441,"ORPHANET: A rare parasitic disease characterized by slowly enlarging cysts of the liver, lungs and other organs which often go unnoticed for years. They are caused principally by the larval form (also called metacestode) of Echinococcus granulosus sensu lato tapeworm. The adult form of this tapeworm parasitizes the intestine of dogs. Cystic echinococcosis (formerly hydatidosis) generally affects large domestic herbivores and humans are dead-end hosts, infected through contact with herding dogs or through ingestion of food contaminated with canine excrement. | MeSH: An infection caused by the infestation of the larval form of tapeworms of the genus Echinococcus. The liver, lungs, and kidney are the most common areas of infestation."
+BMGC_DS16961,BMG_DS065445,"MeSH: BODY MASS INDEX in children (ages 2-12) and in adolescents (ages 13-18) that is grossly above the recommended cut-off for a specific age and sex. For infants less than 2 years of age, obesity is determined based on standard weight-for-length percentile measures."
+BMGC_DS16962,BMG_DS065449,"MeSH: A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)"
+BMGC_DS16963,BMG_DS065452,"SNOMEDCT_US: A rare genetic heart-hand syndrome with characteristics of typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."
+BMGC_DS16964,BMG_DS065453,"NCI: A disorder characterized by impairment of verbal communication skills, often resulting from brain damage."
+BMGC_DS16965,BMG_DS065454,"MeSH: Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)"
+BMGC_DS16966,BMG_DS065455,"SNOMEDCT_US: A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes oedematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern."
+BMGC_DS16967,BMG_DS065498,
+BMGC_DS16968,BMG_DS065499,
+BMGC_DS16969,BMG_DS065500,MONDO: Death of tissue due to external pressure.
+BMGC_DS16970,BMG_DS065501,"SNOMEDCT_US: A rare primary cutaneous amyloidosis characterised by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalised morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. | MONDO: Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare."
+BMGC_DS16971,BMG_DS065505,MONDO: Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.
+BMGC_DS16972,BMG_DS065506,
+BMGC_DS16973,BMG_DS065507,
+BMGC_DS16974,BMG_DS065508,
+BMGC_DS16975,BMG_DS065509,
+BMGC_DS16976,BMG_DS065510,
+BMGC_DS16977,BMG_DS065512,
+BMGC_DS16978,BMG_DS065515,
+BMGC_DS16979,BMG_DS065517,
+BMGC_DS16980,BMG_DS065518,
+BMGC_DS16981,BMG_DS065520,
+BMGC_DS16982,BMG_DS065521,
+BMGC_DS16983,BMG_DS065522,
+BMGC_DS16984,BMG_DS065523,"MONDO: DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})."
+BMGC_DS16985,BMG_DS065524,"NCI: An autosomal dominant subtype of amyotrophic lateral sclerosis caused by mutation(s) in the ANXA11 gene, encoding annexin A11."
+BMGC_DS16986,BMG_DS065525,
+BMGC_DS16987,BMG_DS065526,
+BMGC_DS16988,BMG_DS065527,
+BMGC_DS16989,BMG_DS065528,
+BMGC_DS16990,BMG_DS065531,
+BMGC_DS16991,BMG_DS065532,
+BMGC_DS16992,BMG_DS065533,"ORPHANET: A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts."
+BMGC_DS16993,BMG_DS065534,
+BMGC_DS16994,BMG_DS065535,"MONDO: Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts."
+BMGC_DS16995,BMG_DS065536,"MONDO: An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure."
+BMGC_DS16996,BMG_DS065538,
+BMGC_DS16997,BMG_DS065539,
+BMGC_DS16998,BMG_DS065540,
+BMGC_DS16999,BMG_DS065541,
+BMGC_DS17000,BMG_DS065542,
+BMGC_DS17001,BMG_DS065543,
+BMGC_DS17002,BMG_DS065544,
+BMGC_DS17003,BMG_DS065545,
+BMGC_DS17004,BMG_DS065546,
+BMGC_DS17005,BMG_DS065547,MONDO: Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.
+BMGC_DS17006,BMG_DS065548,
+BMGC_DS17007,BMG_DS065549,
+BMGC_DS17008,BMG_DS065550,
+BMGC_DS17009,BMG_DS065551,
+BMGC_DS17010,BMG_DS065552,"NCI: An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects."
+BMGC_DS17011,BMG_DS065553,
+BMGC_DS17012,BMG_DS065554,
+BMGC_DS17013,BMG_DS065555,
+BMGC_DS17014,BMG_DS065556,
+BMGC_DS17015,BMG_DS065557,"MONDO: Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330)."
+BMGC_DS17016,BMG_DS065558,
+BMGC_DS17017,BMG_DS065559,
+BMGC_DS17018,BMG_DS065560,
+BMGC_DS17019,BMG_DS065561,
+BMGC_DS17020,BMG_DS065562,"ORPHANET: A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. | MONDO: A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis."
+BMGC_DS17021,BMG_DS065563,
+BMGC_DS17022,BMG_DS065564,
+BMGC_DS17023,BMG_DS065565,
+BMGC_DS17024,BMG_DS065566,"MONDO: Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400)."
+BMGC_DS17025,BMG_DS065567,
+BMGC_DS17026,BMG_DS065568,
+BMGC_DS17027,BMG_DS065569,"MONDO: Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018})."
+BMGC_DS17028,BMG_DS065570,"ORPHANET: A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated."
+BMGC_DS17029,BMG_DS065571,
+BMGC_DS17030,BMG_DS065572,
+BMGC_DS17031,BMG_DS065574,
+BMGC_DS17032,BMG_DS065575,
+BMGC_DS17033,BMG_DS065576,
+BMGC_DS17034,BMG_DS065577,
+BMGC_DS17035,BMG_DS065578,
+BMGC_DS17036,BMG_DS065579,
+BMGC_DS17037,BMG_DS065580,
+BMGC_DS17038,BMG_DS065581,
+BMGC_DS17039,BMG_DS065582,
+BMGC_DS17040,BMG_DS065583,
+BMGC_DS17041,BMG_DS065584,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported."
+BMGC_DS17042,BMG_DS065585,
+BMGC_DS17043,BMG_DS065586,
+BMGC_DS17044,BMG_DS065587,
+BMGC_DS17045,BMG_DS065588,
+BMGC_DS17046,BMG_DS065589,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities."
+BMGC_DS17047,BMG_DS065590,
+BMGC_DS17048,BMG_DS065591,
+BMGC_DS17049,BMG_DS065592,
+BMGC_DS17050,BMG_DS065593,"ORPHANET: A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive."
+BMGC_DS17051,BMG_DS065594,
+BMGC_DS17052,BMG_DS065595,
+BMGC_DS17053,BMG_DS065596,
+BMGC_DS17054,BMG_DS065597,
+BMGC_DS17055,BMG_DS065598,"NCI: An autosomal dominant form of developmental and epileptic encephalopathy, caused by mutation(s) in the CYFIP2 gene, encoding cytoplasmic FMR1-interacting protein 2."
+BMGC_DS17056,BMG_DS065599,"MONDO: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400)."
+BMGC_DS17057,BMG_DS065600,
+BMGC_DS17058,BMG_DS065601,
+BMGC_DS17059,BMG_DS065602,
+BMGC_DS17060,BMG_DS065603,
+BMGC_DS17061,BMG_DS065604,
+BMGC_DS17062,BMG_DS065616,
+BMGC_DS17063,BMG_DS065639,
+BMGC_DS17064,BMG_DS065640,
+BMGC_DS17065,BMG_DS065642,MONDO: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
+BMGC_DS17066,BMG_DS065657,"HPO: The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. [PMID:2503273]"
+BMGC_DS17067,BMG_DS065658,"HPO: An unusually severe infection by cytomegalovirus. [PMID:12588074] | MeSH: Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults."
+BMGC_DS17068,BMG_DS065665,"MeSH: A general term which describes a group of rare eye disorders that affect the cone cells of the RETINA. Cone dystrophy can cause a variety of symptoms including decreased visual clarity or acuity when looking straight ahead (central vision), a reduced ability to see colors, and an increased sensitivity to light (PHOTOPHOBIA)."
+BMGC_DS17069,BMG_DS065666,"MeSH: Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent."
+BMGC_DS17070,BMG_DS065667,MeSH: Infection of the VULVA and VAGINA with a fungus of the genus CANDIDA.
+BMGC_DS17071,BMG_DS065668,"MeSH: A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC)."
+BMGC_DS17072,BMG_DS065669,"MeSH: A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC)."
+BMGC_DS17073,BMG_DS065670,"MeSH: Systemic infection during pregnancy, child-birth, post-abortion, or post-partum period often associated with organ dysfunction. | MeSH: The co-occurrence of pregnancy and an INFECTION. The infection may precede or follow FERTILIZATION."
+BMGC_DS17074,BMG_DS065671,"MeSH: Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS."
+BMGC_DS17075,BMG_DS065672,"MeSH: Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compression, trauma, COLLAGEN DISEASES, and other disease processes. Clinical features include MUSCLE WEAKNESS or PARALYSIS of hip flexion and knee extension, ATROPHY of the QUADRICEPS MUSCLE, reduced or absent patellar reflex, and impaired sensation over the anterior and medial thigh."
+BMGC_DS17076,BMG_DS065675,"SNOMEDCT_US: A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. | MONDO: 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated."
+BMGC_DS17077,BMG_DS065678,"SNOMEDCT_US: A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesia) and reduced tendon reflexes. The disease course is severe but nonprogressive. | MONDO: Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive."
+BMGC_DS17078,BMG_DS065683,"SNOMEDCT_US: A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22. | MONDO: Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported."
+BMGC_DS17079,BMG_DS065684,"SNOMEDCT_US: A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterised by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnoea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22. | MONDO: Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V."
+BMGC_DS17080,BMG_DS065685,"SNOMEDCT_US: A rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiencies of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. | MONDO: Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver."
+BMGC_DS17081,BMG_DS065695,"SNOMEDCT_US: A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound."
+BMGC_DS17082,BMG_DS065696,"SNOMEDCT_US: A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. | MONDO: Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy."
+BMGC_DS17083,BMG_DS065700,"SNOMEDCT_US: A rare genetic, non-dystrophic myopathy with characteristics of fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. | MONDO: Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features."
+BMGC_DS17084,BMG_DS065703,"SNOMEDCT_US: A rare genetic disease caused by lack of lysyl hydroxylase-3 (LH3) activity with characteristics of multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. The disorder is caused by mutation in the PLOD3 gene, which encodes lysyl hydroxylase-3"
+BMGC_DS17085,BMG_DS065704,"SNOMEDCT_US: A rare lethal congenital myopathy syndrome characterised by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal haemorrhages and decreased birth weight in the neonate. | MONDO: Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate."
+BMGC_DS17086,BMG_DS065705,"SNOMEDCT_US: A rare genetic neurodegenerative disease with childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis and abnormalities of the brain (e.g. cerebral atrophy) may also be associated. | MONDO: Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated."
+BMGC_DS17087,BMG_DS065706,"SNOMEDCT_US: A rare genetic epilepsy syndrome characterised by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localised and/or generalised paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. | MONDO: A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli."
+BMGC_DS17088,BMG_DS065707,"SNOMEDCT_US: A rare syndromic intellectual disability with primary characteristics of moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. | MONDO: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features."
+BMGC_DS17089,BMG_DS065708,"SNOMEDCT_US: A rare genetic neurological disease due to SPTBN2 (spectrin beta, non-erythrocytic 2) mutations. The disease has characteristics of global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). Caused by homozygous mutation in the SPTBN2 gene on chromosome 11q13. | MONDO: Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)."
+BMGC_DS17090,BMG_DS065709,"SNOMEDCT_US: A rare genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form has characteristics of delayed psychomotor development, seizures, early-onset hypotonia and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age and temporary high lactate levels, with overall clinical improvement from the second year onward. The disease is caused by homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p. | MONDO: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward."
+BMGC_DS17091,BMG_DS065710,"SNOMEDCT_US: A rare genetic skin pigmentation anomaly disorder with characteristics of progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple cafe au lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated cafe au lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. There is evidence this disease is caused by heterozygous mutation in the KIT ligand gene (KITLG) on chromosome 12q22. | MONDO: Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance."
+BMGC_DS17092,BMG_DS065719,"SNOMEDCT_US: A rare chromosomal anomaly syndrome resulting from a partial deletion of the short arm of chromosome 3. The syndrome has a highly variable phenotype with typical characteristics of pre and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. | MONDO: Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated."
+BMGC_DS17093,BMG_DS065722,"SNOMEDCT_US: A rare neurologic disease characterised by the onset of generalised or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalised tonic-clonic seizures have been reported in rare cases. | MONDO: Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases."
+BMGC_DS17094,BMG_DS065728,SNOMEDCT_US: A rare primary immunodeficiency disorder due to impaired capacity of activated T and B-cells to proliferate in response to antigen receptor-mediated activation. The disease has characteristics of early-onset severe persistent and/or recurrent viral infections due to Epstein-Barr virus and Varicella Zoster virus as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens.
+BMGC_DS17095,BMG_DS065732,"SNOMEDCT_US: A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated."
+BMGC_DS17096,BMG_DS065733,"SNOMEDCT_US: A rare primary immunodeficiency disorder with characteristics of persistent CD4 T-cell lymphopenia (less than 300 cells/UL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed."
+BMGC_DS17097,BMG_DS065734,"SNOMEDCT_US: A rare genetic endocrine disorder characterised by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumour) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinaemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhoea and galactorrhoea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhoea and primary infertility have also been reported in some female patients. | MONDO: Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients."
+BMGC_DS17098,BMG_DS065735,"SNOMEDCT_US: A rare non-syndromic urogenital tract malformation with the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. | MONDO: Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible."
+BMGC_DS17099,BMG_DS065737,"SNOMEDCT_US: A rare inborn error of metabolism characterised by persistent hypermethioninaemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycaemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. There is evidence the disease is caused by homozygous mutation in the ADK gene on chromosome 10q22. | MONDO: A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement."
+BMGC_DS17100,BMG_DS065738,"SNOMEDCT_US: A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). | MONDO: A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip)."
+BMGC_DS17101,BMG_DS065740,"SNOMEDCT_US: A rare genetic intellectual disability syndrome with characteristics of delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals."
+BMGC_DS17102,BMG_DS065744,"SNOMEDCT_US: A rare intellectual disability syndrome characterised by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioural abnormalities (e.g. anxiety, stereotyped movements) and absence or generalised tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13."
+BMGC_DS17103,BMG_DS065745,"SNOMEDCT_US: A rare genetic distal myopathy with characteristics of slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. | MONDO: KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life."
+BMGC_DS17104,BMG_DS065746,"SNOMEDCT_US: A rare genetic primary bone dysplasia with characteristics of laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported."
+BMGC_DS17105,BMG_DS065749,"SNOMEDCT_US: A rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. | MONDO: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease."
+BMGC_DS17106,BMG_DS065750,"SNOMEDCT_US: An extremely rare subtype of hereditary motor and sensory neuropathy with characteristics of severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. | MONDO: Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis."
+BMGC_DS17107,BMG_DS065752,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis with characteristics of various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus and lobule aplasia). There is evidence the disease is caused by homozygous mutation in the HMX1 gene on chromosome 4p16."
+BMGC_DS17108,BMG_DS065757,"SNOMEDCT_US: A rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The disease has characteristics of severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulum, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign on brain imaging are also associated. | MONDO: Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated."
+BMGC_DS17109,BMG_DS065760,"SNOMEDCT_US: A primary bone dysplasia with characteristics of height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs. Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never."
+BMGC_DS17110,BMG_DS065782,"SNOMEDCT_US: A rare genetic primary bone dysplasia with highly variable phenotype typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability."
+BMGC_DS17111,BMG_DS065785,"SNOMEDCT_US: A rare genetic congenital hypothyroidism disorder with characteristics of mild global developmental delay in childhood, short stature, delayed bone age and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness and impaired hearing have also been reported. The disease can be caused by homozygous or compound heterozygous mutation in the SECISBP2 gene on chromosome 9q22."
+BMGC_DS17112,BMG_DS065786,"SNOMEDCT_US: Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."
+BMGC_DS17113,BMG_DS065787,"SNOMEDCT_US: A rare genetic male infertility due to sperm disorder with characteristics of the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece and/or tail. | MONDO: Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail."
+BMGC_DS17114,BMG_DS065795,"SNOMEDCT_US: A very rare hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although the syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. There is evidence the disease is caused by homozygous mutation in the KANK2 gene on chromosome 19p13."
+BMGC_DS17115,BMG_DS065826,"SNOMEDCT_US: Inherited disorder characterized by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonemia, metabolic acidosis, respiratory alkalosis, hypoglycemia and reduced production of bicarbonate in the liver. Caused by mutations in the CA5A gene resulting in absent or impaired carbonic anhydrase VA enzyme function leading to reduced bicarbonate production. Inherited in an autosomal recessive pattern."
+BMGC_DS17116,BMG_DS065837,"SNOMEDCT_US: A rare genetic hair anomaly with characteristics of a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. There is evidence the disease is caused by homozygous mutation in the FGF5 gene on chromosome 4q21. | MONDO: Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated."
+BMGC_DS17117,BMG_DS065845,"SNOMEDCT_US: A rare partial monosomy of the short arm of chromosome 17 with a variable phenotype. The disease has characteristics of prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphism including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia but not lissencephaly. | MONDO: Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly."
+BMGC_DS17118,BMG_DS065849,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder due to nuclear deoxyribonucleic acid anomalies. The disease is characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported."
+BMGC_DS17119,BMG_DS065853,"SNOMEDCT_US: A rare inherited neuromuscular disease with prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning. This results in joint abnormalities that may involve both lower and upper extremities and is usually symmetric. Also associated with severe hypotonia at birth, bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement and progressive disease course with loss of ambulation after the first decade of life. | MONDO: Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life."
+BMGC_DS17120,BMG_DS065854,"SNOMEDCT_US: A rare form of axonal peripheral sensorimotor neuropathy with characteristics of classical Charcot-Marie-Tooth type 2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms."
+BMGC_DS17121,BMG_DS065855,"SNOMEDCT_US: A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). | MONDO: Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly)."
+BMGC_DS17122,BMG_DS065857,"SNOMEDCT_US: A rare genetic dysostosis syndrome with marked inter and intra-familial variation with typical characteristics of triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones."
+BMGC_DS17123,BMG_DS065859,"SNOMEDCT_US: A rare malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukemia. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. | MONDO: An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome."
+BMGC_DS17124,BMG_DS065860,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis with characteristics of a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present."
+BMGC_DS17125,BMG_DS065861,"SNOMEDCT_US: A rare genetic skeletal muscle disease with characteristics of neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. | MONDO: Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients."
+BMGC_DS17126,BMG_DS065865,"SNOMEDCT_US: An isolated focal, hereditary palmoplantar keratoderma with characteristics of linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopathologically widened intercellular spaces between keratinocytes are observed. | MONDO: Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed."
+BMGC_DS17127,BMG_DS065866,"SNOMEDCT_US: A rare genetic chronic primary adrenal insufficiency disorder due to partial loss-of-function CYP11A1 mutations. The disease has characteristics of early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolyte abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. | MONDO: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands."
+BMGC_DS17128,BMG_DS065867,"SNOMEDCT_US: A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement."
+BMGC_DS17129,BMG_DS065869,"SNOMEDCT_US: A rare genetic vascular disease characterised by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnoea, cough, jaw, neck, chest or back pain, head, neck or upper limb oedema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. | MONDO: A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture."
+BMGC_DS17130,BMG_DS065872,"SNOMEDCT_US: A rare myofibrillar myopathy with characteristics of slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo or areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases."
+BMGC_DS17131,BMG_DS065878,"SNOMEDCT_US: A rare genetic neurological disorder with early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura. When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed. | MONDO: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed."
+BMGC_DS17132,BMG_DS065879,"SNOMEDCT_US: Rare genetic epilepsy characterised by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalised childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. | MONDO: A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed."
+BMGC_DS17133,BMG_DS065881,"SNOMEDCT_US: A rare inborn error of metabolism disease with characteristics of mild to moderate persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms or the disease may also be asymptomatic."
+BMGC_DS17134,BMG_DS065886,"SNOMEDCT_US: Isolated non-familial catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. | MONDO: Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating."
+BMGC_DS17135,BMG_DS065887,"SNOMEDCT_US: A form of severe combined immunodeficiency (SCID) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. The disease manifests during the first months of life with severe and often life threatening viral, bacterial or fungal and failure to thrive. Chronic diarrhea is a frequent finding. Some patients may have skin rashes and abnormalities of liver function. Immunological findings are lymphopenia with the absence of T and NK cells, hypogammaglobulinemia, and normal or increased B cell count. The disease results from a defect in the IL2RG gene encoding the common gamma chain and transmission is X-linked."
+BMGC_DS17136,BMG_DS065890,"SNOMEDCT_US: A rare genetic T cell negative B cell negative severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial microorganisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins, some patients may have eosinophilia."
+BMGC_DS17137,BMG_DS065892,"SNOMEDCT_US: A rare inherited skin hyperpigmentation disorder with characteristics of widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa."
+BMGC_DS17138,BMG_DS065893,SNOMEDCT_US: A rare late adult-onset myofibrillar myopathy with characteristics of progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
+BMGC_DS17139,BMG_DS065894,"SNOMEDCT_US: Disease with characteristics of variable degrees of muscle weakness due to progressive skeletal myopathy sometimes associated with dilated cardiomyopathy or left ventricle dilation. Duchenne and Becker muscular dystrophies primarily affect males and only a small percentage of female carriers have been reported to manifest these diseases. Symptomatic female carriers usually present later in life, muscle weakness is generally mild to moderate and is usually proximal and asymmetric, some patients present with cardiac manifestations alone. Females with clinical features are usually carriers of X-chromosome rearrangements, display skewed X-inactivation or have Turner syndrome. | MONDO: Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation."
+BMGC_DS17140,BMG_DS065895,"SNOMEDCT_US: A rare benign neoplasm of the central nervous system characterized by the development of multiple or rarely solitary meningioma in two or more blood relatives without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. | MONDO: Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic."
+BMGC_DS17141,BMG_DS065909,"SNOMEDCT_US: Disease that is characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26."
+BMGC_DS17142,BMG_DS065929,"SNOMEDCT_US: Rare childhood-onset epilepsy syndrome associated with infection and a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. | MONDO: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy."
+BMGC_DS17143,BMG_DS065933,"SNOMEDCT_US: A rare chromosomal anomaly syndrome characterised by pre and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (for example brachy/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphoedema, heart malformations, aplasia cutis congenita, aortic root dilatation and autistic spectrum disorder have also been reported."
+BMGC_DS17144,BMG_DS065953,"SNOMEDCT_US: A rare primary bone dysplasia disorder with characteristics of normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. | MONDO: Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported."
+BMGC_DS17145,BMG_DS065962,"SNOMEDCT_US: A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 1. The disorder has characteristics of developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (for example vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. | MONDO: 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures."
+BMGC_DS17146,BMG_DS065963,"SNOMEDCT_US: An extremely rare complex hereditary spastic paraplegia with characteristics of infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. | MONDO: Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities."
+BMGC_DS17147,BMG_DS065968,"SNOMEDCT_US: A rare genetic endocrine growth disease resulting from growth hormone secretagogue receptor (GHSR) deficiency. The disease has characteristics of postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported."
+BMGC_DS17148,BMG_DS065969,"SNOMEDCT_US: A rare hereditary ataxia with characteristics of delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems."
+BMGC_DS17149,BMG_DS065971,"SNOMEDCT_US: A rare genetic primary bone dysplasia disorder with characteristics of disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may be lethal."
+BMGC_DS17150,BMG_DS065974,"SNOMEDCT_US: A rare genetic non-syndromic cerebral malformation with characteristics of severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. | MONDO: A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described."
+BMGC_DS17151,BMG_DS065977,"SNOMEDCT_US: A rare combined T and B cell immunodeficiency with characteristics of susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. There is evidence the disease is caused by homozygous mutation in the OX40 gene (TNFRSF4) on chromosome 1p36."
+BMGC_DS17152,BMG_DS065978,"SNOMEDCT_US: A rare familial dilated cardiomyopathy with characteristics of left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase."
+BMGC_DS17153,BMG_DS065980,"SNOMEDCT_US: A rare genetic limb malformation syndrome with characteristics of multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (such as lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons."
+BMGC_DS17154,BMG_DS065983,"SNOMEDCT_US: A rare non-syndromic cerebellar malformation with characteristics of loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. | MONDO: Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal."
+BMGC_DS17155,BMG_DS065986,"SNOMEDCT_US: A rare axonal hereditary motor and sensory neuropathy with early onset (less than 10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. | MONDO: A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop."
+BMGC_DS17156,BMG_DS065991,"SNOMEDCT_US: A rare genetic immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin 3 levels, susceptibility to infections and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients clinical consequences of ficolin 3 deficiency were not clear. There is evidence that ficolin 3 deficiency is caused by homozygous mutation in the FCN3 gene on chromosome 1p36."
+BMGC_DS17157,BMG_DS066017,
+BMGC_DS17158,BMG_DS066048,"SNOMEDCT_US: Syndrome with manifestations of intellectual disability and delayed development of speech and motor skills with expressive language skills generally more severely affected. Individuals may be unable to speak, learn to walk later or may never walk. In infancy hypotonia and feeding difficulties may be present along with dysphagia, hypersomnolence, hypothermia and hypoventilation. Recurrent seizures are common. Caused by mutations in the PURA gene, which provides instructions for the protein Pur-alpha. This protein has multiple roles in cells, including gene transcription and replication of DNA. The disease is inherited in an autosomal dominant pattern, however most cases result from de novo mutation."
+BMGC_DS17159,BMG_DS066052,"SNOMEDCT_US: Syndrome with characteristics of infancy onset hypotonia, feeding difficulties, breathing problems, dysphagia, severely delayed development of speech and motor skills, distinctive facial features, recurrent seizures and seizure-like episodes (muscle jerking, twitching, and stiffening). Brain abnormalities may also be present several of which are caused by reduced production of myelin or delayed maturation of myelin. Caused by a microdeletion occurring on the long (q) arm of chromosome 5 at a position designated q31.3. The deleted region typically contains at least three genes. The loss of one of these genes, PURA, is thought to lead to most of the characteristic features of the condition. The condition is not inherited."
+BMGC_DS17160,BMG_DS066077,"ORPHANET: Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated. | MONDO: Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated."
+BMGC_DS17161,BMG_DS066092,
+BMGC_DS17162,BMG_DS066184,"HPO: Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs. [] | MeSH: Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)"
+BMGC_DS17163,BMG_DS066185,
+BMGC_DS17164,BMG_DS066188,"MONDO: Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''. | MeSH: A form of non-Hodgkin lymphoma having a usually diffuse pattern with both small and medium lymphocytes and small cleaved cells. It accounts for about 5% of adult non-Hodgkin lymphomas in the United States and Europe. The majority of mantle-cell lymphomas are associated with a t(11;14) translocation resulting in overexpression of the CYCLIN D1 gene (GENES, BCL-1)."
+BMGC_DS17165,BMG_DS066189,
+BMGC_DS17166,BMG_DS066190,"MONDO: Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity."
+BMGC_DS17167,BMG_DS066191,"SNOMEDCT_US: A congenital hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 with characteristics of Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical Charcot-Marie-Tooth phenotype, for example distal muscle weakness and atrophy, sensory loss, and foot deformity."
+BMGC_DS17168,BMG_DS066196,"MeSH: Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves."
+BMGC_DS17169,BMG_DS066197,
+BMGC_DS17170,BMG_DS066199,MeSH: A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death.
+BMGC_DS17171,BMG_DS066200,"HPO: Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. [PMID:26666486, PMID:8697837] | MeSH: A common interstitial lung disease of unknown etiology, usually occurring between 50-70 years of age. Clinically, it is characterized by an insidious onset of breathlessness with exertion and a nonproductive cough, leading to progressive DYSPNEA. Pathological features show scant interstitial inflammation, patchy collagen fibrosis, prominent fibroblast proliferation foci, and microscopic honeycomb change."
+BMGC_DS17172,BMG_DS066201,
+BMGC_DS17173,BMG_DS066202,"NCI: An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome."
+BMGC_DS17174,BMG_DS066203,"SNOMEDCT_US: A rare genetic vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. Caused by heterozygous mutation in the CAPN5 gene on chromosome 11q14. | MONDO: An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients."
+BMGC_DS17175,BMG_DS066204,"ORPHANET: A rare liver disease characterized by immune-mediated, acute or chronic liver inflammation, clinically presenting as cryptogenic hepatitis, with interface hepatitis on histological examination, elevated serum aminotransferase levels, and hypergammaglobulinemia / elevated immunoglobulin G, in the presence or absence of specific circulating autoantibodies. Patients may be asymptomatic, chronically ill, or present with acute liver failure. Concurrent autoimmune diseases are frequently observed. | MONDO: Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma."
+BMGC_DS17176,BMG_DS066205,"HPO: A malignant neoplasm originating from the surface ovarian epithelium. [] | MONDO: A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002"
+BMGC_DS17177,BMG_DS066207,"NCI: An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the ASS1 gene, encoding argininosuccinate synthetase. | MONDO: Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). | MeSH: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)"
+BMGC_DS17178,BMG_DS066210,"MONDO: The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. | MeSH: A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)"
+BMGC_DS17179,BMG_DS066212,"MeSH: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue.  Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2."
+BMGC_DS17180,BMG_DS066213,"MONDO: Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3."
+BMGC_DS17181,BMG_DS066214,"MONDO: Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases."
+BMGC_DS17182,BMG_DS066215,"SNOMEDCT_US: A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 with the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. | MONDO: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported."
+BMGC_DS17183,BMG_DS066216,
+BMGC_DS17184,BMG_DS066217,MONDO: Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.
+BMGC_DS17185,BMG_DS066218,MONDO: Any cataract in which the cause of the disease is a mutation in the CRYGC gene.
+BMGC_DS17186,BMG_DS066219,"MONDO: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities."
+BMGC_DS17187,BMG_DS066221,
+BMGC_DS17188,BMG_DS066222,"SNOMEDCT_US: A rare axonal hereditary motor and sensory neuropathy with characteristics of slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. | MONDO: Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. | MeSH: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)"
+BMGC_DS17189,BMG_DS066224,"MeSH: A common interstitial lung disease of unknown etiology, usually occurring between 50-70 years of age. Clinically, it is characterized by an insidious onset of breathlessness with exertion and a nonproductive cough, leading to progressive DYSPNEA. Pathological features show scant interstitial inflammation, patchy collagen fibrosis, prominent fibroblast proliferation foci, and microscopic honeycomb change."
+BMGC_DS17190,BMG_DS066228,MeSH: Absence or reduced levels of PROTHROMBIN in the blood.
+BMGC_DS17191,BMG_DS066229,
+BMGC_DS17192,BMG_DS066230,
+BMGC_DS17193,BMG_DS066232,
+BMGC_DS17194,BMG_DS066234,"NCI: A condition of decreased or absent presence or activity of dedicator of cytokinesis protein 8. Deficiency of this protein is associated with autosomal recessive hyper-IgE recurrent infection syndrome. | MONDO: Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."
+BMGC_DS17195,BMG_DS066237,MONDO: Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.
+BMGC_DS17196,BMG_DS066239,"NCI: Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland. | MONDO: A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues. | MeSH: An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels."
+BMGC_DS17197,BMG_DS066242,
+BMGC_DS17198,BMG_DS066243,
+BMGC_DS17199,BMG_DS066244,"SNOMEDCT_US: A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23."
+BMGC_DS17200,BMG_DS066247,
+BMGC_DS17201,BMG_DS066252,"NCI: A group of disorders caused by mutation(s) that disrupt the maintenance of telomeres, resulting in the short telomere defect. | MONDO: Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths."
+BMGC_DS17202,BMG_DS066256,SNOMEDCT_US: A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway. | MONDO: Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3CA gene. The variants can be germline or somatic
+BMGC_DS17203,BMG_DS066278,"MONDO: A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty."
+BMGC_DS17204,BMG_DS066279,"MONDO: Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed."
+BMGC_DS17205,BMG_DS066280,
+BMGC_DS17206,BMG_DS066281,MONDO: A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.
+BMGC_DS17207,BMG_DS066284,"NCI: An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever."
+BMGC_DS17208,BMG_DS066290,"NCI: An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia."
+BMGC_DS17209,BMG_DS066291,
+BMGC_DS17210,BMG_DS066292,
+BMGC_DS17211,BMG_DS066293,
+BMGC_DS17212,BMG_DS066294,
+BMGC_DS17213,BMG_DS066295,MONDO: X-linked form of Alport syndrome.
+BMGC_DS17214,BMG_DS066296,"MONDO: Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene."
+BMGC_DS17215,BMG_DS066297,
+BMGC_DS17216,BMG_DS066298,"MONDO: A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy."
+BMGC_DS17217,BMG_DS066299,
+BMGC_DS17218,BMG_DS066301,MONDO: Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.
+BMGC_DS17219,BMG_DS066302,
+BMGC_DS17220,BMG_DS066303,"NCI: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2."
+BMGC_DS17221,BMG_DS066304,MONDO: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene.
+BMGC_DS17222,BMG_DS066305,"MONDO: Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present."
+BMGC_DS17223,BMG_DS066306,MONDO: Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.
+BMGC_DS17224,BMG_DS066308,
+BMGC_DS17225,BMG_DS066309,
+BMGC_DS17226,BMG_DS066310,
+BMGC_DS17227,BMG_DS066311,"ORPHANET: A rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease."
+BMGC_DS17228,BMG_DS066312,
+BMGC_DS17229,BMG_DS066313,
+BMGC_DS17230,BMG_DS066314,MONDO: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene.
+BMGC_DS17231,BMG_DS066315,
+BMGC_DS17232,BMG_DS066316,"ORPHANET: A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype."
+BMGC_DS17233,BMG_DS066317,"MONDO: A primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Affected individuals may have normal respiratory function at birth. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. Many patients die of respiratory failure in infancy or early childhood; hematopoietic stem cell transplantation (HSCT) is curative. The pathogenesis may be related to abnormal function of alveolar macrophages, resulting in decreased catabolism of surfactant. The disorder results from a gain-of-function effect that particularly affects B cells and monocytes."
+BMGC_DS17234,BMG_DS066318,
+BMGC_DS17235,BMG_DS066319,
+BMGC_DS17236,BMG_DS066320,
+BMGC_DS17237,BMG_DS066321,"NCI: An autosomal recessive subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ALPK3 gene, encoding alpha-protein kinase 3."
+BMGC_DS17238,BMG_DS066322,
+BMGC_DS17239,BMG_DS066323,
+BMGC_DS17240,BMG_DS066324,MONDO: Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene.
+BMGC_DS17241,BMG_DS066325,
+BMGC_DS17242,BMG_DS066326,
+BMGC_DS17243,BMG_DS066327,"NCI: An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the PACS2 gene, encoding phosphofurin acidic cluster sorting protein 2."
+BMGC_DS17244,BMG_DS066328,
+BMGC_DS17245,BMG_DS066329,
+BMGC_DS17246,BMG_DS066330,
+BMGC_DS17247,BMG_DS066331,
+BMGC_DS17248,BMG_DS066332,
+BMGC_DS17249,BMG_DS066333,
+BMGC_DS17250,BMG_DS066334,
+BMGC_DS17251,BMG_DS066336,
+BMGC_DS17252,BMG_DS066337,
+BMGC_DS17253,BMG_DS066338,
+BMGC_DS17254,BMG_DS066339,
+BMGC_DS17255,BMG_DS066340,
+BMGC_DS17256,BMG_DS066341,MONDO: Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.
+BMGC_DS17257,BMG_DS066342,
+BMGC_DS17258,BMG_DS066343,
+BMGC_DS17259,BMG_DS066344,
+BMGC_DS17260,BMG_DS066345,
+BMGC_DS17261,BMG_DS066346,
+BMGC_DS17262,BMG_DS066347,
+BMGC_DS17263,BMG_DS066348,
+BMGC_DS17264,BMG_DS066349,
+BMGC_DS17265,BMG_DS066350,
+BMGC_DS17266,BMG_DS066351,
+BMGC_DS17267,BMG_DS066352,
+BMGC_DS17268,BMG_DS066353,
+BMGC_DS17269,BMG_DS066354,
+BMGC_DS17270,BMG_DS066355,MONDO: Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene.
+BMGC_DS17271,BMG_DS066356,
+BMGC_DS17272,BMG_DS066357,
+BMGC_DS17273,BMG_DS066359,
+BMGC_DS17274,BMG_DS066360,
+BMGC_DS17275,BMG_DS066361,
+BMGC_DS17276,BMG_DS066362,
+BMGC_DS17277,BMG_DS066363,
+BMGC_DS17278,BMG_DS066364,"ORPHANET: A rare autosomal dominant limb-girdle muscular dystrophy characterized by adult onset of proximal muscle weakness, pain, and wasting predominantly affecting the proximal leg, lumbar paraspinal, and medial gastrocnemius muscles. Upper limb involvement may also be observed in some cases. Serum creatine kinase is often, but not always, elevated, and muscle biopsy shows non-specific myopathic changes. The severity of the disease is variable, although most patients remain ambulatory."
+BMGC_DS17279,BMG_DS066365,
+BMGC_DS17280,BMG_DS066366,
+BMGC_DS17281,BMG_DS066367,
+BMGC_DS17282,BMG_DS066368,
+BMGC_DS17283,BMG_DS066369,
+BMGC_DS17284,BMG_DS066370,
+BMGC_DS17285,BMG_DS066371,
+BMGC_DS17286,BMG_DS066372,
+BMGC_DS17287,BMG_DS066373,
+BMGC_DS17288,BMG_DS066374,
+BMGC_DS17289,BMG_DS066375,"ORPHANET: A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine."
+BMGC_DS17290,BMG_DS066376,
+BMGC_DS17291,BMG_DS066377,
+BMGC_DS17292,BMG_DS066378,
+BMGC_DS17293,BMG_DS066379,
+BMGC_DS17294,BMG_DS066380,
+BMGC_DS17295,BMG_DS066381,
+BMGC_DS17296,BMG_DS066382,
+BMGC_DS17297,BMG_DS066383,
+BMGC_DS17298,BMG_DS066384,
+BMGC_DS17299,BMG_DS066385,"NCI: An autosomal dominant condition caused by mutation(s) in the TRAF7 gene, encoding E3 ubiquitin-protein ligase TRAF7. It is characterized by developmental delay, cardiac, facial, and digital anomalies."
+BMGC_DS17300,BMG_DS066386,
+BMGC_DS17301,BMG_DS066387,
+BMGC_DS17302,BMG_DS066388,
+BMGC_DS17303,BMG_DS066389,"MONDO: Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene."
+BMGC_DS17304,BMG_DS066390,
+BMGC_DS17305,BMG_DS066391,
+BMGC_DS17306,BMG_DS066392,
+BMGC_DS17307,BMG_DS066393,
+BMGC_DS17308,BMG_DS066394,
+BMGC_DS17309,BMG_DS066395,
+BMGC_DS17310,BMG_DS066396,
+BMGC_DS17311,BMG_DS066399,
+BMGC_DS17312,BMG_DS066400,
+BMGC_DS17313,BMG_DS066401,
+BMGC_DS17314,BMG_DS066402,
+BMGC_DS17315,BMG_DS066403,
+BMGC_DS17316,BMG_DS066404,"NCI: An autosomal recessive subtype of dilated cardiomyopathy caused by mutation(s) in the PPCS gene, encoding phosphopantothenate--cysteine ligase. | MONDO: A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34."
+BMGC_DS17317,BMG_DS066405,
+BMGC_DS17318,BMG_DS066406,
+BMGC_DS17319,BMG_DS066407,
+BMGC_DS17320,BMG_DS066408,
+BMGC_DS17321,BMG_DS066409,
+BMGC_DS17322,BMG_DS066410,
+BMGC_DS17323,BMG_DS066411,
+BMGC_DS17324,BMG_DS066412,"SNOMEDCT_US: A neurodevelopmental disorder with characteristics of global developmental delay, impaired intellectual development and delayed speech. Other variable features include macrocephaly, characteristic facial features, prominent forehead, hypertelorism, hypotonia and joint laxity. The syndrome is inherited in an autosomal dominant manner with evidence the disease is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13."
+BMGC_DS17325,BMG_DS066413,
+BMGC_DS17326,BMG_DS066414,"ORPHANET: A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyperkinesia, stereotypies). Mild facial dysmorphism and skeletal deformities have also been reported. EEG testing shows marked abnormalities in the absence of overt epileptic seizures."
+BMGC_DS17327,BMG_DS066415,
+BMGC_DS17328,BMG_DS066416,
+BMGC_DS17329,BMG_DS066417,
+BMGC_DS17330,BMG_DS066418,
+BMGC_DS17331,BMG_DS066419,
+BMGC_DS17332,BMG_DS066420,
+BMGC_DS17333,BMG_DS066421,
+BMGC_DS17334,BMG_DS066422,
+BMGC_DS17335,BMG_DS066423,
+BMGC_DS17336,BMG_DS066424,
+BMGC_DS17337,BMG_DS066425,
+BMGC_DS17338,BMG_DS066426,
+BMGC_DS17339,BMG_DS066427,
+BMGC_DS17340,BMG_DS066428,
+BMGC_DS17341,BMG_DS066429,
+BMGC_DS17342,BMG_DS066430,
+BMGC_DS17343,BMG_DS066431,
+BMGC_DS17344,BMG_DS066433,
+BMGC_DS17345,BMG_DS066434,
+BMGC_DS17346,BMG_DS066435,
+BMGC_DS17347,BMG_DS066436,
+BMGC_DS17348,BMG_DS066437,
+BMGC_DS17349,BMG_DS066438,
+BMGC_DS17350,BMG_DS066439,
+BMGC_DS17351,BMG_DS066440,
+BMGC_DS17352,BMG_DS066441,
+BMGC_DS17353,BMG_DS066442,
+BMGC_DS17354,BMG_DS066443,
+BMGC_DS17355,BMG_DS066444,
+BMGC_DS17356,BMG_DS066445,
+BMGC_DS17357,BMG_DS066446,
+BMGC_DS17358,BMG_DS066447,
+BMGC_DS17359,BMG_DS066448,
+BMGC_DS17360,BMG_DS066449,
+BMGC_DS17361,BMG_DS066450,
+BMGC_DS17362,BMG_DS066451,
+BMGC_DS17363,BMG_DS066453,
+BMGC_DS17364,BMG_DS066454,"ORPHANET: A lethal form of pontocerebellar hypoplasia characterized by prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported."
+BMGC_DS17365,BMG_DS066455,
+BMGC_DS17366,BMG_DS066456,
+BMGC_DS17367,BMG_DS066457,
+BMGC_DS17368,BMG_DS066458,"SNOMEDCT_US: A rare genetic overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior."
+BMGC_DS17369,BMG_DS066459,
+BMGC_DS17370,BMG_DS066460,
+BMGC_DS17371,BMG_DS066461,
+BMGC_DS17372,BMG_DS066462,
+BMGC_DS17373,BMG_DS066463,"MONDO: A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs."
+BMGC_DS17374,BMG_DS066464,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambigous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features."
+BMGC_DS17375,BMG_DS066465,
+BMGC_DS17376,BMG_DS066466,
+BMGC_DS17377,BMG_DS066467,
+BMGC_DS17378,BMG_DS066468,
+BMGC_DS17379,BMG_DS066469,
+BMGC_DS17380,BMG_DS066470,
+BMGC_DS17381,BMG_DS066471,
+BMGC_DS17382,BMG_DS066472,
+BMGC_DS17383,BMG_DS066473,
+BMGC_DS17384,BMG_DS066474,
+BMGC_DS17385,BMG_DS066475,
+BMGC_DS17386,BMG_DS066476,
+BMGC_DS17387,BMG_DS066477,"NCI: An autosomal recessive condition caused by mutation(s) in the RHOH gene, encoding Rho-related GTP-binding protein RhoH. It presents in childhood and is characterized by defects in T-cell development and signaling leading to increased susceptibility to certain human papilloma viruses (HPV) that cause warty skin lesions that are unresponsive to treatment."
+BMGC_DS17388,BMG_DS066478,
+BMGC_DS17389,BMG_DS066483,
+BMGC_DS17390,BMG_DS066508,
+BMGC_DS17391,BMG_DS066510,
+BMGC_DS17392,BMG_DS066511,
+BMGC_DS17393,BMG_DS066512,
+BMGC_DS17394,BMG_DS066513,
+BMGC_DS17395,BMG_DS066514,
+BMGC_DS17396,BMG_DS066515,
+BMGC_DS17397,BMG_DS066516,
+BMGC_DS17398,BMG_DS066540,"SNOMEDCT_US: A rare neuro-ophthalmological disease with characteristics of severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits."
+BMGC_DS17399,BMG_DS066541,"SNOMEDCT_US: Rare epilepsy with characteristics of seizures with viscerosensory or experiential auras, onset in adolescence or early adulthood and good prognosis."
+BMGC_DS17400,BMG_DS066542,"SNOMEDCT_US: A rare genetic congenital secondary polycythaemia disorder characterised by increased haemoglobin, haematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnoea and/or plethora. Patients present an increased risk of haemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25."
+BMGC_DS17401,BMG_DS066546,"SNOMEDCT_US: A rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. | MONDO: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI."
+BMGC_DS17402,BMG_DS066549,"SNOMEDCT_US: A rare genetic aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (such as aortic dilation, aortic aneurysm and/or dissection). | MONDO: A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection)."
+BMGC_DS17403,BMG_DS066556,"SNOMEDCT_US: A cerebral malformation with epilepsy with predominant characteristics of posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Caused by heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13. | MONDO: Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia."
+BMGC_DS17404,BMG_DS066558,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis with characteristics of severe pre and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated."
+BMGC_DS17405,BMG_DS066559,"SNOMEDCT_US: A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has characteristics of developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism."
+BMGC_DS17406,BMG_DS066568,"SNOMEDCT_US: A rare, genetic macular dystrophy disorder characterised by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). | MONDO: Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages."
+BMGC_DS17407,BMG_DS066576,"SNOMEDCT_US: A rare thyroid disease with characteristics of a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life."
+BMGC_DS17408,BMG_DS066603,"SNOMEDCT_US: A rare genetic systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of auto inflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischaemic or haemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency."
+BMGC_DS17409,BMG_DS066610,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disease with characteristics of progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Caused by homozygous mutation in the TAF2 gene on chromosome 8q23."
+BMGC_DS17410,BMG_DS066611,"SNOMEDCT_US: A rare hereditary non-dystrophic myopathy with characteristics of proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported and include ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. There is evidence the disease is caused by homozygous mutation in the MICU1 gene on chromosome 10q22."
+BMGC_DS17411,BMG_DS066612,"SNOMEDCT_US: A very rare complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (crawling, walking) and has characteristics of lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, and scoliosis and cerebellar abnormalities. | MONDO: Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities."
+BMGC_DS17412,BMG_DS066613,"SNOMEDCT_US: A rare central nervous system malformation syndrome with characteristics of progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. This phenotype is caused by homozygous mutation in the MED17 gene on chromosome 11."
+BMGC_DS17413,BMG_DS066614,"SNOMEDCT_US: A rare genetic female infertility disorder with characteristics of the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstruction in the fallopian tubes or defects of the uterus or adnexa."
+BMGC_DS17414,BMG_DS066615,"SNOMEDCT_US: A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. | MONDO: Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene."
+BMGC_DS17415,BMG_DS066618,"SNOMEDCT_US: A rare genetic neurological with characteristics of intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Caused by hemizygous mutation in the BCAP31 gene on chromosome Xq28."
+BMGC_DS17416,BMG_DS066619,"SNOMEDCT_US: A rare partial autosomal monosomy with characteristics of weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. | MONDO: 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria."
+BMGC_DS17417,BMG_DS066620,"SNOMEDCT_US: A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13."
+BMGC_DS17418,BMG_DS066623,"SNOMEDCT_US: A rare hereditary motor and sensory neuropathy disorder with characteristics of the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. Caused by heterozygous mutation in the GNB4 gene on chromosome 3q26. | MONDO: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range."
+BMGC_DS17419,BMG_DS066641,"SNOMEDCT_US: A rare primary immunodeficiency with characteristics of increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. | MONDO: T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype."
+BMGC_DS17420,BMG_DS066643,"SNOMEDCT_US: A rare genetic skeletal muscle disease with characteristics of severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. | MONDO: Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood."
+BMGC_DS17421,BMG_DS066644,"SNOMEDCT_US: A rare genetic overgrowth or tall stature syndrome with skeletal involvement and characteristics of early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. There is evidence the disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13."
+BMGC_DS17422,BMG_DS066645,"SNOMEDCT_US: A rare genetic neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderate intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behaviour patterns are highly variable and range from sociable and affectionate to autistic behaviour. Caused by homozygous mutation in the HERC2 gene on chromosome 15q13."
+BMGC_DS17423,BMG_DS066646,"SNOMEDCT_US: A rare genetic distal myopathy disorder with characteristics of middle age-onset distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness has been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. | MONDO: Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles."
+BMGC_DS17424,BMG_DS066647,"SNOMEDCT_US: A rare partial autosomal trisomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes)."
+BMGC_DS17425,BMG_DS066658,"SNOMEDCT_US: An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF (melanogenesis associated transcription factor) gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer."
+BMGC_DS17426,BMG_DS066660,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, progressive postnatal multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures, which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. | MONDO: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position."
+BMGC_DS17427,BMG_DS066661,"SNOMEDCT_US: A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly. | MONDO: Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly."
+BMGC_DS17428,BMG_DS066675,"SNOMEDCT_US: A rare primary immunodeficiency disorder with characteristics of autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset severe recurrent bacterial infections. | MONDO: Autosomal dominant form of severe congenital neutropenia."
+BMGC_DS17429,BMG_DS066677,"SNOMEDCT_US: A rare genetic malformation syndrome with short stature characterised by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalised oedema, myopia, strabismus, hypothyroidism. | MONDO: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism."
+BMGC_DS17430,BMG_DS066681,"SNOMEDCT_US: A rare genetic immunodeficiency due to a complement cascade protein anomaly with characteristics of low serum levels of MASP-2 and a variable susceptibility to bacterial infections (for example pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (for example inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. There is evidence the disease is caused by homozygous mutation in the MASP2 gene on chromosome 1p36."
+BMGC_DS17431,BMG_DS066682,"SNOMEDCT_US: Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal neoplasm). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients. | MONDO: Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients."
+BMGC_DS17432,BMG_DS066683,"SNOMEDCT_US: A rare slowly progressive genetic peripheral neuropathy with characteristics of distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with unilateral or bilateral vocal cord paresis leading to hoarse voice, breathing difficulties and facial weakness. | MONDO: Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness."
+BMGC_DS17433,BMG_DS066706,"SNOMEDCT_US: A rare genetic hereditary poikiloderma syndrome characterised by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities and progressive pulmonary fibrosis. Mild lymphoedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and haematologic abnormalities are additional variable features. There is evidence the disease is caused by heterozygous mutation in the FAM111B gene on chromosome 11q12."
+BMGC_DS17434,BMG_DS066707,"SNOMEDCT_US: A rare axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. | MONDO: A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities."
+BMGC_DS17435,BMG_DS066708,"SNOMEDCT_US: A rare genetic non-acquired combined pituitary hormone deficiency disorder with characteristics of panhypopituitarism (with or without adrenocorticotropic hormone deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. There is evidence this disease is caused by homozygous mutation in the LHX3 gene on chromosome 9q34."
+BMGC_DS17436,BMG_DS066710,"SNOMEDCT_US: A rare immune dysregulation disease with immunodeficiency and characteristics of severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. | MONDO: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."
+BMGC_DS17437,BMG_DS066711,"SNOMEDCT_US: A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23. | MONDO: Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet."
+BMGC_DS17438,BMG_DS066713,"SNOMEDCT_US: A rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia)."
+BMGC_DS17439,BMG_DS066714,"SNOMEDCT_US: A rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. | MONDO: 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate."
+BMGC_DS17440,BMG_DS066715,"SNOMEDCT_US: A rare genetic retinal dystrophy disorder with characteristics of bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. There is evidence the disease is caused by heterozygous mutation in the bestrophin-1 gene (BEST1) on chromosome 11q12. | MONDO: MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400."
+BMGC_DS17441,BMG_DS066717,"SNOMEDCT_US: A rare metabolite absorption and transport disorder with characteristics of moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however; screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. Caused by mutation in the gene encoding the transcobalamin receptor (CD320). | MONDO: Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported."
+BMGC_DS17442,BMG_DS066720,"SNOMEDCT_US: A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11."
+BMGC_DS17443,BMG_DS066721,"SNOMEDCT_US: A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. | MONDO: A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches."
+BMGC_DS17444,BMG_DS066722,"SNOMEDCT_US: A rare genetic syndromic intellectual disability characterised by mild to severe global developmental delay, intellectual disability and behavioural abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). | MONDO: A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities)."
+BMGC_DS17445,BMG_DS066724,"SNOMEDCT_US: A rare hereditary gastric cancer with characteristics of proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, without duodenal or colorectal polyposis. | MONDO: A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder."
+BMGC_DS17446,BMG_DS066725,"SNOMEDCT_US: A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35. | MONDO: Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared."
+BMGC_DS17447,BMG_DS066728,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency. The disease has characteristics of lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. | MONDO: A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia."
+BMGC_DS17448,BMG_DS066729,"SNOMEDCT_US: A rare genetic combined T and B cell immunodeficiency characterised by T- and B-cell lymphopenia, hypergammaglobulinaemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicaemia. Other clinical features include autoimmune manifestations (autoimmune haemolytic anaemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, tricuspid and pulmonary valve insufficiency). Caused by homozygous mutation in the STK4 gene on chromosome 20q13."
+BMGC_DS17449,BMG_DS066732,"SNOMEDCT_US: A rare genetic endocrine disease with characteristics of central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency. Caused by mutation in the IGSF1 gene on chromosome Xq26."
+BMGC_DS17450,BMG_DS066733,"SNOMEDCT_US: A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. | MONDO: Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly."
+BMGC_DS17451,BMG_DS066734,"SNOMEDCT_US: A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Caused by heterozygous intragenic copy number variation in the KIAA0442 gene (AUTS2) on chromosome 7q11."
+BMGC_DS17452,BMG_DS066735,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency and characteristics of hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-ophthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. Caused by homozygous mutation in the MRPL44 gene on chromosome 2."
+BMGC_DS17453,BMG_DS066736,"SNOMEDCT_US: A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13."
+BMGC_DS17454,BMG_DS066737,"SNOMEDCT_US: A rare genetic disease with characteristics of facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24."
+BMGC_DS17455,BMG_DS066738,"SNOMEDCT_US: A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22."
+BMGC_DS17456,BMG_DS066874,"SNOMEDCT_US: Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. | MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene."
+BMGC_DS17457,BMG_DS066904,"SNOMEDCT_US: A rare genetic central nervous system malformation syndrome with characteristics of marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. | MONDO: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality."
+BMGC_DS17458,BMG_DS066905,"SNOMEDCT_US: A rare genetic lethal non-dystrophic congenital myopathy disorder characterised, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalised skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganisation of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12."
+BMGC_DS17459,BMG_DS066906,"SNOMEDCT_US: A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21."
+BMGC_DS17460,BMG_DS066909,"SNOMEDCT_US: A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism."
+BMGC_DS17461,BMG_DS066911,"SNOMEDCT_US: An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology."
+BMGC_DS17462,BMG_DS066912,"SNOMEDCT_US: A rare genetic multisystemic chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others."
+BMGC_DS17463,BMG_DS066913,"SNOMEDCT_US: A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated."
+BMGC_DS17464,BMG_DS066917,"SNOMEDCT_US: A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene."
+BMGC_DS17465,BMG_DS066919,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with a variable phenotypic presentation. Typical characteristics are microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Caused by heterozygous mutation in the ASXL3 gene on chromosome 18q12."
+BMGC_DS17466,BMG_DS066920,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, and abnormal central nervous system myelination or corpus callosum agenesis. There is evidence the disease is caused by homozygous mutation in the ADAT3 gene on chromosome 19p13."
+BMGC_DS17467,BMG_DS066922,"SNOMEDCT_US: A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36."
+BMGC_DS17468,BMG_DS066924,"SNOMEDCT_US: A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs."
+BMGC_DS17469,BMG_DS066926,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12."
+BMGC_DS17470,BMG_DS066928,"SNOMEDCT_US: A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioural abnormalities. | MONDO: A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities."
+BMGC_DS17471,BMG_DS066929,"SNOMEDCT_US: A rare genetic coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors and normal protein C activity."
+BMGC_DS17472,BMG_DS066930,"SNOMEDCT_US: A rare hereditary mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure."
+BMGC_DS17473,BMG_DS066932,"SNOMEDCT_US: A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported."
+BMGC_DS17474,BMG_DS066933,"SNOMEDCT_US: A rare genetic premature ageing syndrome characterised by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (such as premature thinning and greying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. | MONDO: A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies."
+BMGC_DS17475,BMG_DS066943,"SNOMEDCT_US: A rare genetic form of primary immunodeficiency with characteristics of growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Caused by homozygous mutation in the MALT1 gene on chromosome 18q21."
+BMGC_DS17476,BMG_DS066944,"SNOMEDCT_US: A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21."
+BMGC_DS17477,BMG_DS066950,"SNOMEDCT_US: A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. | MONDO: A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts."
+BMGC_DS17478,BMG_DS066951,"SNOMEDCT_US: A rare hereditary ataxia characterised by early onset symptomatic generalised epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22."
+BMGC_DS17479,BMG_DS066954,"SNOMEDCT_US: A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12."
+BMGC_DS17480,BMG_DS066955,"SNOMEDCT_US: A rare hereditary basal epidermolysis bullosa simplex characterised by mild, generalised trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22."
+BMGC_DS17481,BMG_DS066965,"SNOMEDCT_US: A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31."
+BMGC_DS17482,BMG_DS066966,"SNOMEDCT_US: A rare genetic disorder of metabolite absorption or transport with characteristics of persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances."
+BMGC_DS17483,BMG_DS066967,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21."
+BMGC_DS17484,BMG_DS066968,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomalies (for example autistic behavior, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22."
+BMGC_DS17485,BMG_DS066969,"SNOMEDCT_US: A rare genetic neurodegenerative disorder characterised by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tetraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridaemia and muscular hypertrophy. Hyperactivity, tremor and development of seizures may also be associated. Caused by homozygous or compound heterozygous mutation in the BSCL2 gene on chromosome 11q13."
+BMGC_DS17486,BMG_DS066974,"SNOMEDCT_US: A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23."
+BMGC_DS17487,BMG_DS066975,"SNOMEDCT_US: A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening."
+BMGC_DS17488,BMG_DS066977,"SNOMEDCT_US: A rare genetic intestinal disease characterised by early-onset chronic non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy, which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene."
+BMGC_DS17489,BMG_DS066980,"SNOMEDCT_US: A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28."
+BMGC_DS17490,BMG_DS067000,"SNOMEDCT_US: A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25."
+BMGC_DS17491,BMG_DS067001,"SNOMEDCT_US: A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21."
+BMGC_DS17492,BMG_DS067013,"SNOMEDCT_US: A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22."
+BMGC_DS17493,BMG_DS067014,"SNOMEDCT_US: A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21."
+BMGC_DS17494,BMG_DS067016,"SNOMEDCT_US: A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene."
+BMGC_DS17495,BMG_DS067017,"SNOMEDCT_US: A rare genetic lethal neurometabolic disease characterised by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalised muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25."
+BMGC_DS17496,BMG_DS067018,"SNOMEDCT_US: A rare genetic hepatic disease characterized by massive hepatomegaly, moderate to severe transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis) manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age. Caused by homozygous or compound heterozygous mutation in the GPD1 gene on chromosome 12q13."
+BMGC_DS17497,BMG_DS067019,"SNOMEDCT_US: A rare life-threatening autoinflammatory syndrome with immune deficiency disorder characterized by early-onset life-long inflammation affecting the skin and bowel associated with recurrent infections. Presents with perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. | MONDO: Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis."
+BMGC_DS17498,BMG_DS067021,"SNOMEDCT_US: A rare genetic endocrine disease characterized by the association of common variable immunodeficiency manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency. Caused by heterozygous mutation in the NFKB2 gene on chromosome 10q24."
+BMGC_DS17499,BMG_DS067023,"SNOMEDCT_US: A rare genetic endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypo ketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13."
+BMGC_DS17500,BMG_DS067024,"SNOMEDCT_US: A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported."
+BMGC_DS17501,BMG_DS067026,"SNOMEDCT_US: A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13."
+BMGC_DS17502,BMG_DS067027,"SNOMEDCT_US: A rare potentially fatal genetic visceral malformation syndrome characterised by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinaemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22."
+BMGC_DS17503,BMG_DS067028,"SNOMEDCT_US: A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35."
+BMGC_DS17504,BMG_DS067052,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated. | MONDO: Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated."
+BMGC_DS17505,BMG_DS067060,"SNOMEDCT_US: A rare genetic sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertriglyceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated."
+BMGC_DS17506,BMG_DS067061,"SNOMEDCT_US: An extremely rare primary bone dysplasia with increased bone density disorder characterised by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinaemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), haematologic abnormalities with bone marrow failure (for example anaemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21."
+BMGC_DS17507,BMG_DS067072,"SNOMEDCT_US: A rare genetic refraction anomaly disorder with characteristics of non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness."
+BMGC_DS17508,BMG_DS067104,"SNOMEDCT_US: A rare neurologic disease with characteristics of persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neuro-physical or histopathological evidence of neuromuscular disease using available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels. | MONDO: Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle."
+BMGC_DS17509,BMG_DS067111,"SNOMEDCT_US: A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes including apathy, anxiety and delusions."
+BMGC_DS17510,BMG_DS067112,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported."
+BMGC_DS17511,BMG_DS067113,"SNOMEDCT_US: A rare genetic haematologic disorder characterised by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22."
+BMGC_DS17512,BMG_DS067127,"SNOMEDCT_US: A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27."
+BMGC_DS17513,BMG_DS067128,"SNOMEDCT_US: A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations including microdontia, widely spaced and pointed teeth with delayed eruption and gingival overgrowth. | MONDO: Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth."
+BMGC_DS17514,BMG_DS067129,"SNOMEDCT_US: A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14."
+BMGC_DS17515,BMG_DS067130,"SNOMEDCT_US: A rare genetic neuromuscular disease characterised by normokalaemic episodes of painful muscle cramping followed by progressive permanent flaccid weakness. Triggered by stress, cold and exercise and associated with myopathic myopathy and painful acute oedema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group."
+BMGC_DS17516,BMG_DS067131,SNOMEDCT_US: A rare genetic neuromuscular disease with characteristics of acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset chronic slowly progressive distal axonal neuropathy.
+BMGC_DS17517,BMG_DS067132,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32."
+BMGC_DS17518,BMG_DS067133,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioural problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13."
+BMGC_DS17519,BMG_DS067134,"SNOMEDCT_US: A rare genetic parenchymatous liver disease with characteristics of pre and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia."
+BMGC_DS17520,BMG_DS067135,"SNOMEDCT_US: A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anaemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26."
+BMGC_DS17521,BMG_DS067136,"SNOMEDCT_US: A rare neuroinflammatory disease characterised by the onset of ataxia, dysarthria and cerebral white matter changes that are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and eventually, death) is observed in the absence of haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinemia."
+BMGC_DS17522,BMG_DS067137,"SNOMEDCT_US: A rare genetic parenchymal hepatic disease with characteristics of acute liver failure that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepato-steatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure. There is evidence the disease may be caused by homozygous mutation in the LARS gene on chromosome 5q32."
+BMGC_DS17523,BMG_DS067141,"SNOMEDCT_US: A rare genetic developmental defect of the eye disease with characteristics of childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupil and retinal detachment. There is evidence the disease is caused by homozygous mutation in the ADAMTS18 gene on chromosome 16q23."
+BMGC_DS17524,BMG_DS067143,"SNOMEDCT_US: A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinaemia, anaemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q."
+BMGC_DS17525,BMG_DS067144,"SNOMEDCT_US: A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures."
+BMGC_DS17526,BMG_DS067146,"SNOMEDCT_US: A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21."
+BMGC_DS17527,BMG_DS067148,"SNOMEDCT_US: A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behaviour, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13."
+BMGC_DS17528,BMG_DS067149,"SNOMEDCT_US: A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paraesthesia in toes, heels and ankles."
+BMGC_DS17529,BMG_DS067151,"SNOMEDCT_US: A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12."
+BMGC_DS17530,BMG_DS067152,"SNOMEDCT_US: A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations."
+BMGC_DS17531,BMG_DS067153,"SNOMEDCT_US: A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated."
+BMGC_DS17532,BMG_DS067155,"SNOMEDCT_US: A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24."
+BMGC_DS17533,BMG_DS067156,"SNOMEDCT_US: A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter."
+BMGC_DS17534,BMG_DS067160,"SNOMEDCT_US: A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23."
+BMGC_DS17535,BMG_DS067161,"SNOMEDCT_US: A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11."
+BMGC_DS17536,BMG_DS067162,"SNOMEDCT_US: A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism). | MONDO: A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)."
+BMGC_DS17537,BMG_DS067163,"SNOMEDCT_US: A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of failure to thrive, severe developmental delay, severe postnatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphism (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro or micrognathia). Additional common features include neurologic abnormalities (hyper/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. Caused by homozygous mutation in the FTO gene on chromosome 16q12."
+BMGC_DS17538,BMG_DS067164,SNOMEDCT_US: A rare genetic hematologic and neurologic disease characterized by chronic Coombs-negative hemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).
+BMGC_DS17539,BMG_DS067165,"SNOMEDCT_US: A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of severe immunodeficiency. The disease presents with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease such as alopecia universalis, erythrodermia and autoimmune thyroiditis and enteropathy. Caused by homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15."
+BMGC_DS17540,BMG_DS067166,"SNOMEDCT_US: A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of infantile-onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy."
+BMGC_DS17541,BMG_DS067174,"SNOMEDCT_US: A rare genetic primary immunodeficiency due to a defect in innate immunity disorder with characteristics of impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections. Caused by homozygous mutation in the STAT1 gene on chromosome 2q32."
+BMGC_DS17542,BMG_DS067177,"SNOMEDCT_US: A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. | MONDO: A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination."
+BMGC_DS17543,BMG_DS067180,"SNOMEDCT_US: A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12."
+BMGC_DS17544,BMG_DS067181,"SNOMEDCT_US: A rare genetic neurological disease characterised by the presence of fragile small-vessel intracerebral vasculature in various members of a single family. Clinical manifestations are single or recurrent haemorrhagic and/or ischaemic stroke and frequently ocular and renal involvement. Neuroimaging reveals diffuse periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhaemorrhages. There is evidence the disease is caused by heterozygous mutation in the COL4A1 gene on chromosome 13q34."
+BMGC_DS17545,BMG_DS067183,"SNOMEDCT_US: A rare genetic isolated palmoplantar keratoderma disorder with characteristics of non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with ortho hyperkeratosis featuring widening of the intercellular spaces and dis-adhesion of keratocytes in the upper epidermal layers. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12."
+BMGC_DS17546,BMG_DS067186,"SNOMEDCT_US: A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with characteristics of neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anaemia and thrombocytopenia. Caused by homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene."
+BMGC_DS17547,BMG_DS067189,"SNOMEDCT_US: A haematological neoplasm characterised by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anaemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages."
+BMGC_DS17548,BMG_DS067190,"SNOMEDCT_US: A rare genetic mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes including Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome and Maternally inherited Leigh (MILS) syndrome. | MONDO: A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)."
+BMGC_DS17549,BMG_DS067364,NCI: A deficiency of iodine in the diet.
+BMGC_DS17550,BMG_DS067365,"NCI: An autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash."
+BMGC_DS17551,BMG_DS067368,"MeSH: KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE."
+BMGC_DS17552,BMG_DS067373,MONDO: Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene.
+BMGC_DS17553,BMG_DS067374,SNOMEDCT_US: A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. | MONDO: Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.
+BMGC_DS17554,BMG_DS067375,"MeSH: A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant (for LMNA-associated type see AUTOSOMAL EMERY-DREIFUSS MUSCULAR DYSTROPHY), and autosomal recessive gene mutations."
+BMGC_DS17555,BMG_DS067376,"MONDO: A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features."
+BMGC_DS17556,BMG_DS067380,MONDO: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.
+BMGC_DS17557,BMG_DS067381,"SNOMEDCT_US: A rare genetic neurological disorder characterized by late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. | MONDO: Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia."
+BMGC_DS17558,BMG_DS067382,
+BMGC_DS17559,BMG_DS067384,"MeSH: A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans."
+BMGC_DS17560,BMG_DS067385,MONDO: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene.
+BMGC_DS17561,BMG_DS067386,MONDO: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene.
+BMGC_DS17562,BMG_DS067387,
+BMGC_DS17563,BMG_DS067388,
+BMGC_DS17564,BMG_DS067389,MONDO: Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene.
+BMGC_DS17565,BMG_DS067390,
+BMGC_DS17566,BMG_DS067391,"SNOMEDCT_US: A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation."
+BMGC_DS17567,BMG_DS067392,"SNOMEDCT_US: A rare mitochondrial DNA maintenance syndrome with characteristics of early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders."
+BMGC_DS17568,BMG_DS067393,"MONDO: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla."
+BMGC_DS17569,BMG_DS067394,"SNOMEDCT_US: Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. | MONDO: Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur."
+BMGC_DS17570,BMG_DS067395,"SNOMEDCT_US: A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (for example inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. | MONDO: Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported."
+BMGC_DS17571,BMG_DS067398,"MeSH: A disorder of neuromuscular transmission characterized by fatigable weakness of cranial and skeletal muscles with elevated titers of ACETYLCHOLINE RECEPTORS or muscle-specific receptor tyrosine kinase (MuSK) autoantibodies. Clinical manifestations may include ocular muscle weakness (fluctuating, asymmetric, external ophthalmoplegia; diplopia; ptosis; and weakness of eye closure) and extraocular fatigable weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles (ocular myasthenia). THYMOMA is commonly associated with this condition."
+BMGC_DS17572,BMG_DS067406,"NCI: An extremely rare autosomal recessive inherited disorder caused by mutations in the GCGR gene. It is characterized by the presence of islet glucagon cell hyperplasia and glucagon cell tumors. | MONDO: A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus."
+BMGC_DS17573,BMG_DS067410,"HPO: Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. [http://www.wikidata.org/entity/Q90573458, PMID:20301504] | MONDO: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person."
+BMGC_DS17574,BMG_DS067494,"NCI: An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP. | MONDO: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene."
+BMGC_DS17575,BMG_DS067495,"SNOMEDCT_US: A rare genetic pontocerebellar hypoplasia subtype with characteristics of severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. Caused by homozygous mutation in the CLP1 gene on chromosome 11q12. | MONDO: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene."
+BMGC_DS17576,BMG_DS067496,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated."
+BMGC_DS17577,BMG_DS067497,"SNOMEDCT_US: Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment."
+BMGC_DS17578,BMG_DS067498,"SNOMEDCT_US: Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal."
+BMGC_DS17579,BMG_DS067500,"SNOMEDCT_US: A rare syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25."
+BMGC_DS17580,BMG_DS067501,"SNOMEDCT_US: A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21."
+BMGC_DS17581,BMG_DS067503,"SNOMEDCT_US: A rare subtype of axonal hereditary motor and sensory neuropathy with characteristics of distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. There is evidence this disease is caused by heterozygous mutation in the DCAF8 gene on chromosome 1q23."
+BMGC_DS17582,BMG_DS067504,"SNOMEDCT_US: A rare genetic neurodegenerative disease characterised by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioural problems."
+BMGC_DS17583,BMG_DS067505,"SNOMEDCT_US: A rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated."
+BMGC_DS17584,BMG_DS067506,"SNOMEDCT_US: A very rare inborn error of metabolism disorder with a highly variable phenotype. Typical characteristics are neonatal to infancy-onset of seizures, psychomotor delay and abnormal muscle tone that may include hypo and/or hypertonia, resulting in generalised weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties and pulmonary hypertension. There is evidence the disease is caused by compound heterozygous mutation in the LIPT1 gene on chromosome 2q11."
+BMGC_DS17585,BMG_DS067507,"SNOMEDCT_US: Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability."
+BMGC_DS17586,BMG_DS067508,"SNOMEDCT_US: Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging."
+BMGC_DS17587,BMG_DS067510,"SNOMEDCT_US: A rare genetic form of primary immunodeficiency characterised by life-threatening bacterial, fungal and viral infections with the onset in infancy and failure to thrive. Typically, hypogammaglobulinaemia or agammaglobulinaemia and normal levels of T and B cells are present. There is evidence the disease is caused by homozygous mutation in the IKBKB gene on chromosome 8p11."
+BMGC_DS17588,BMG_DS067511,"SNOMEDCT_US: A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13."
+BMGC_DS17589,BMG_DS067512,"SNOMEDCT_US: A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14. | MONDO: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene."
+BMGC_DS17590,BMG_DS067513,"SNOMEDCT_US: A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23."
+BMGC_DS17591,BMG_DS067514,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported."
+BMGC_DS17592,BMG_DS067517,"SNOMEDCT_US: A rare genetic constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. Caused by mutation in the GATA1 gene on chromosome Xp11."
+BMGC_DS17593,BMG_DS067518,"SNOMEDCT_US: A rare genetic mitochondrial DNA depletion syndrome characterised by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminaemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycaemia."
+BMGC_DS17594,BMG_DS067519,"SNOMEDCT_US: A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."
+BMGC_DS17595,BMG_DS067520,"SNOMEDCT_US: A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities."
+BMGC_DS17596,BMG_DS067523,"SNOMEDCT_US: A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal."
+BMGC_DS17597,BMG_DS067524,"SNOMEDCT_US: A rare primary bone dysplasia with characteristics of intrauterine growth retardation, pre and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. There is evidence this disease is caused by homozygous mutation in the MAGMAS (PAM16) gene on chromosome 16p13."
+BMGC_DS17598,BMG_DS067525,"SNOMEDCT_US: A rare genetic primary bone dysplasia with decreased bone density disorder with characteristics of childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. There is evidence the disease can be caused by mutation in the PLS3 gene on chromosome Xq23."
+BMGC_DS17599,BMG_DS067526,"SNOMEDCT_US: A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of benign isolated calvarial thickening presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences and facial dysmorphism comprising a flat nasal root and short upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986."
+BMGC_DS17600,BMG_DS067529,"SNOMEDCT_US: A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23."
+BMGC_DS17601,BMG_DS067530,"SNOMEDCT_US: A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fiber density. Large fiber functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal."
+BMGC_DS17602,BMG_DS067531,"SNOMEDCT_US: A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21."
+BMGC_DS17603,BMG_DS067532,"SNOMEDCT_US: A rare genetic inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype. Typical characteristics are mild to severe global developmental delay, elevated methylmalonic acid and occasionally lactic acid plasma levels and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (for example beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure and central nervous system abnormalities on MRI have also been reported. Caused by homozygous or compound heterozygous mutation in the ALDH6A1 gene on chromosome 14q24."
+BMGC_DS17604,BMG_DS067535,"SNOMEDCT_US: A rare isolated nail anomaly with characteristics of claw-shaped thick hyperplastic hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported. There is evidence the disease can be caused by homozygous mutation in the FZD6 gene on chromosome 8q22.3-q23.1."
+BMGC_DS17605,BMG_DS067536,"SNOMEDCT_US: A rare genetic haemoglobinopathy disorder due to a defect in the gama subunit of the fetal haemoglobin and characterised by neonatal cyanosis, low haemoglobin oxygen saturation levels without arterial hypoxaemia, moderate anaemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life. Can be caused by heterozygous mutation in the HBG2 gene on chromosome 11p15.5."
+BMGC_DS17606,BMG_DS067537,"SNOMEDCT_US: A rare genetic demyelinating hereditary motor and sensory neuropathy disorder with characteristics of slowly progressive mild to moderate distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (for example pectus excavatus, dolichocephaly) may also be associated. There is evidence the disease is caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32."
+BMGC_DS17607,BMG_DS067538,"SNOMEDCT_US: A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23."
+BMGC_DS17608,BMG_DS067539,"SNOMEDCT_US: A rare genetic disorder of thiamine metabolism and transport characterised by infantile spasms progressing to symptomatic generalised or partial seizures, severe global developmental delay, progressive brain atrophy and bilateral thalamic and basal ganglia lesions."
+BMGC_DS17609,BMG_DS067540,"SNOMEDCT_US: A rare genetic neurological disease with characteristics of non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (for example perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present."
+BMGC_DS17610,BMG_DS067543,"SNOMEDCT_US: A rare genetic constitutional coagulation factor defect disorder characterised by a bleeding tendency of variable severity due to methionine 358 to arginine replacement (Pittsburgh mutation) in the alpha-1-antitrypsin protein. Patients present with spontaneous haematomas, haematomas following minor trauma or surgery and in female patients ovarian haematomas after ovulation."
+BMGC_DS17611,BMG_DS067544,"SNOMEDCT_US: A rare haemolytic anaemia characterised by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and haemolytic anaemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalaemia, haemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34."
+BMGC_DS17612,BMG_DS067546,"SNOMEDCT_US: A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12."
+BMGC_DS17613,BMG_DS067564,"SNOMEDCT_US: A rare genetic primary immunodeficiency disorder with characteristics of increased susceptibility to Neisseria bacterial infections resulting from complement factor D deficiency. Typical manifestations are recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations. Caused by homozygous mutation in the CFD gene on chromosome 19p13."
+BMGC_DS17614,BMG_DS067571,"SNOMEDCT_US: A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated."
+BMGC_DS17615,BMG_DS067573,"SNOMEDCT_US: A rare genetic dentin dysplasia disease with characteristics of extreme microdontia, oligodontia and abnormal tooth shape (including globular teeth, incisal notches and double tooth formation). Short roots with a variable pulp phenotype (including taurodontia and flame-shaped pulp) enamel hypoplasia and anterior open bite may also be associated. Caused by homozygous mutation in the SMOC2 gene on chromosome 6q27."
+BMGC_DS17616,BMG_DS067574,"SNOMEDCT_US: A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. | MONDO: Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene."
+BMGC_DS17617,BMG_DS067575,"SNOMEDCT_US: A rare genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common."
+BMGC_DS17618,BMG_DS067576,"SNOMEDCT_US: A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. | MONDO: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene."
+BMGC_DS17619,BMG_DS067577,"SNOMEDCT_US: A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1."
+BMGC_DS17620,BMG_DS067578,"SNOMEDCT_US: A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum."
+BMGC_DS17621,BMG_DS067579,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhoea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating mini fascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumours (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. May be caused by mutation in the desert hedgehog gene (DHH)."
+BMGC_DS17622,BMG_DS067580,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis disorder with characteristics of severe early-onset salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens and sodium with elevated potassium levels. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24."
+BMGC_DS17623,BMG_DS067582,"SNOMEDCT_US: A rare genetic endocrine disease with characteristics of idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. There is evidence the disease is caused by heterozygous mutation in the growth hormone receptor gene (GHR) on chromosome 5p13-p12."
+BMGC_DS17624,BMG_DS067583,"SNOMEDCT_US: A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of focal thickening of the skin of the soles and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and occasionally subtle oral leukokeratosis or plantar hyperhidrosis. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13."
+BMGC_DS17625,BMG_DS067586,"SNOMEDCT_US: A rare genetic neurological disorder characterised by childhood to adolescent-onset of action myoclonus, generalised tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. | MONDO: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene."
+BMGC_DS17626,BMG_DS067587,"SNOMEDCT_US: A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12."
+BMGC_DS17627,BMG_DS067588,"SNOMEDCT_US: A rare slowly progressive autosomal recessive distal myopathy with characteristics of early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods. The disease manifests initially in early childhood or young adulthood by foot drop but the first symptoms can be seen as early as one year of age. Caused by biallelic mutations (with at least one of them being missense mutation) in the gene NEB (2q22) which encodes the protein nebulin. The latter is expressed in the thin filaments of striated muscle and is required for the proper assembly of the thin filaments, for the maintenance of their lengths and for their contractile function. Transmission is autosomal recessive."
+BMGC_DS17628,BMG_DS067594,"SNOMEDCT_US: A rare neurodegenerative disease with characteristics of progressive cognitive impairment, spastic tetraparesis and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation. Caused by heterozygous mutation in the ITM2B gene on chromosome 13q14. | MONDO: A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."
+BMGC_DS17629,BMG_DS067597,"SNOMEDCT_US: A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is present at birth or early infancy and delayed or arrested motor development associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency and ocular anomalies (for example strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed."
+BMGC_DS17630,BMG_DS067598,"SNOMEDCT_US: A rare genetic congenital muscular dystrophy due to dystroglycanopathy disorder with characteristics of a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. | MONDO: A congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed."
+BMGC_DS17631,BMG_DS067599,"SNOMEDCT_US: A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies."
+BMGC_DS17632,BMG_DS067604,"SNOMEDCT_US: A rare genetic primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse. There is evidence that the disease is caused by heterozygous mutation in the gene encoding surfactant protein C (SFTPC) on chromosome 8p21."
+BMGC_DS17633,BMG_DS067609,"SNOMEDCT_US: A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastrooesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32."
+BMGC_DS17634,BMG_DS067610,"SNOMEDCT_US: A rare genetic primary immunodeficiency disorder with characteristics of early-onset recurrent severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (such as triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities may also be associated."
+BMGC_DS17635,BMG_DS067611,"SNOMEDCT_US: A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2."
+BMGC_DS17636,BMG_DS067612,SNOMEDCT_US: A rare genetic primary immunodeficiency disorder with characteristics of predisposition to recurrent life-threatening bacterial infections associated with decreased peripheral neutrophil granulocytes resulting from recessively inherited loss-of-function mutations in the CSF3R gene. Full maturation of all three lineages in the bone marrow and refractoriness to in vivo rhG-CSF treatment are associated.
+BMGC_DS17637,BMG_DS067613,"SNOMEDCT_US: A rare genetic haematologic disease characterised by increased levels of serum haemoglobin, haematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance."
+BMGC_DS17638,BMG_DS067619,"SNOMEDCT_US: A rare primary immunodeficiency due to a defect in innate immunity disorder with characteristics of selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis."
+BMGC_DS17639,BMG_DS067620,"SNOMEDCT_US: A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal oedema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24. | MONDO: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate."
+BMGC_DS17640,BMG_DS067623,"SNOMEDCT_US: A rare genetic coagulation disorder with characteristics of a tendency to develop thrombosis resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. There is evidence the disease is caused by heterozygous mutation in the HRG gene on chromosome 3q27."
+BMGC_DS17641,BMG_DS067625,"SNOMEDCT_US: A rare genetic haemoglobinopathy characterised by generally mild clinical phenotype, high fetal haemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. | MONDO: A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF."
+BMGC_DS17642,BMG_DS067626,"SNOMEDCT_US: A rare genetic constitutional aplastic anaemia disorder characterised by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent."
+BMGC_DS17643,BMG_DS067628,"SNOMEDCT_US: A rare genetic form of obesity characterised by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidaemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm counts or azoospermia have also been reported."
+BMGC_DS17644,BMG_DS067629,"SNOMEDCT_US: A rare syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness and occasionally mitral valve dysplasia."
+BMGC_DS17645,BMG_DS067630,"SNOMEDCT_US: A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities. | MONDO: Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene."
+BMGC_DS17646,BMG_DS067632,"SNOMEDCT_US: A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour."
+BMGC_DS17647,BMG_DS067633,"SNOMEDCT_US: A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of a highly variable phenotype which ranges from a fatal neonatal/infantile encephalomyopathy with lactic acidosis, hyporeflexia/areflexia, severe hypotonia and respiratory failure to less severe cases presenting with central hypotonia, global developmental delay, congenital sensorineural hearing loss and renal disease. Additional variably observed clinical features include intellectual disability, seizures, and cardiomyopathy. Caused by homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene."
+BMGC_DS17648,BMG_DS067638,"SNOMEDCT_US: A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described."
+BMGC_DS17649,BMG_DS067640,"SNOMEDCT_US: A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26."
+BMGC_DS17650,BMG_DS067641,"SNOMEDCT_US: A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity."
+BMGC_DS17651,BMG_DS067642,"SNOMEDCT_US: A rare genetic motor neuron disease with characteristics of slowly progressive predominantly proximal muscular weakness and atrophy which typically manifests with muscle cramps, fasciculations, decreased/absent deep tendon reflexes, hand tremor and elevated serum creatine kinase at onset and later associates gait disturbances and impaired vibration sensation. There is evidence the disease is caused by heterozygous mutation in the CHCHD10 gene on chromosome 22q11."
+BMGC_DS17652,BMG_DS067643,"SNOMEDCT_US: A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present."
+BMGC_DS17653,BMG_DS067644,"SNOMEDCT_US: A rare genetic renal tubular disease characterised by hypophosphataemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels."
+BMGC_DS17654,BMG_DS067645,"SNOMEDCT_US: A rare genetic primary immunodeficiency disease with characteristics of increased susceptibility to recurrent usually severe infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (for example systemic lupus erythematosus, glomerulonephritis) and atypical haemolytic uraemic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H. Caused by homozygous or compound heterozygous mutation in the gene encoding complement factor I on chromosome 4q25."
+BMGC_DS17655,BMG_DS067648,"SNOMEDCT_US: A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene."
+BMGC_DS17656,BMG_DS067651,"SNOMEDCT_US: A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features."
+BMGC_DS17657,BMG_DS067655,"SNOMEDCT_US: A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycaemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13. | MONDO: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene."
+BMGC_DS17658,BMG_DS067658,"SNOMEDCT_US: A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated. | MONDO: A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated."
+BMGC_DS17659,BMG_DS067659,"SNOMEDCT_US: A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to SUR1 deficiency. Hypoglycaemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. Caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15."
+BMGC_DS17660,BMG_DS067660,"SNOMEDCT_US: A rare congenital isolated hyperinsulinism disorder with characteristics of diazoxide unresponsive recurrent episodes of hyperinsulinaemic hypoglycaemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to Kir6.2 deficiency. Hypoglycaemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycaemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycaemic coma or status epilepticus, further leading to poor neurological outcome. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11)."
+BMGC_DS17661,BMG_DS067661,"SNOMEDCT_US: A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinaemia, abnormal specific antibody production and impaired T-cell function are observed."
+BMGC_DS17662,BMG_DS067662,"SNOMEDCT_US: A rare hereditary hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported."
+BMGC_DS17663,BMG_DS067663,"SNOMEDCT_US: A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. There is evidence the disease is caused by homozygous, compound heterozygous, or heterozygous mutation in the ABCC8 gene on chromosome 11p15."
+BMGC_DS17664,BMG_DS067664,"SNOMEDCT_US: A rare congenital isolated hyperinsulinism disorder with characteristics of neonatal presentation of severe refractory hypoglycaemia in the first two days of life with limited response to medical management sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycaemia, hyperglycaemia and type 1 diabetes mellitus may develop later in life. Life-threatening hypoglycaemic coma or status epilepticus have also been associated. Caused by mutation in the gene encoding the Kir6.2 subunit of the inwardly rectifying potassium channel (KCNJ11)."
+BMGC_DS17665,BMG_DS067665,"SNOMEDCT_US: A rare genetic disease with characteristics of adult-onset myofibrillar myopathy variably associated with cardiomyopathy and/or posterior pole cataracts. Patients typically present progressive proximal and distal muscle weakness and wasting of lower and upper limbs, often with velopharyngeal involvement including dysphagia, dysphonia and ventilatory insufficiency. Electromyography shows myopathic features and muscle biopsy reveals myofibrillar myopathy changes. Caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB) on chromosome 11q23."
+BMGC_DS17666,BMG_DS067670,"SNOMEDCT_US: A rare genetic non-severe combined immunodeficiency disorder with characteristics of variable B- and T-cell defects (including defective B-cell differentiation and impaired T-cell proliferation to mitogens and bacterial antigens) and natural killer cell dysfunction (ranging from impaired cytotoxity to lymphopenia) due to IL21R deficiency. The disease manifests with recurrent respiratory and/or gastrointestinal tract infections and in some cases, with severe, chronic, progressive cholangitis and liver cirrhosis associated with cryptosporidial infection."
+BMGC_DS17667,BMG_DS067671,"SNOMEDCT_US: A rare genetic non-syndromic cerebral malformation due to abnormal neuronal migration disease with the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. Caused by heterozygous mutation in the TUBB3 gene on chromosome 16q24."
+BMGC_DS17668,BMG_DS067672,"SNOMEDCT_US: A rare genetic movement disorder with characteristics of involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities."
+BMGC_DS17669,BMG_DS067674,"SNOMEDCT_US: A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of potentially life-threatening severe myopathy manifesting in the neonatal to early infantile period, followed by marked spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient marked decrease in respiratory chain activity."
+BMGC_DS17670,BMG_DS067675,"SNOMEDCT_US: A rare genetic familial partial epilepsy disease with characteristics of simple partial seizures, complex partial seizures and/or secondarily generalised seizures, originating from the inner aspect of the temporal lobe, associated with an antecedent history of febrile seizures, occurring in various members of a family. Hippocampal abnormalities (for example hippocampal sclerosis) may also be associated. There is evidence the disease is caused by homozygous mutation in the CPA6 gene on chromosome 8q13."
+BMGC_DS17671,BMG_DS067683,"SNOMEDCT_US: A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21. | MONDO: Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts."
+BMGC_DS17672,BMG_DS067684,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21."
+BMGC_DS17673,BMG_DS067690,SNOMEDCT_US: A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR)) on chromosome 1p31.
+BMGC_DS17674,BMG_DS067692,"SNOMEDCT_US: A rare skin disease belonging to the spectrum of autoinflammatory syndromes with the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne."
+BMGC_DS17675,BMG_DS067693,"SNOMEDCT_US: A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1."
+BMGC_DS17676,BMG_DS067694,"SNOMEDCT_US: A rare genetic intestinal disease with characteristics of early-onset chronic diarrhoea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and oesophagitis (with or without oesophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12."
+BMGC_DS17677,BMG_DS067703,"MONDO: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ] | MeSH: Neurodegenerative disorders involving deposition of abnormal ALPHA-SYNUCLEIN in dopaminergic neurons and glial cells in the brain. Pathological aggregations of alpha-synuclein proteins results in LEWY BODIES and Lewy neurites; melanin granules in the SUBSTANTIA NIGRA and LOCUS COERULEUS; and glial cytoplasmic inclusions. Synucleinopathies are associated with mutation in the ALPHA-SYNUCLEIN (SNCA) gene on chromosome 4. PARKINSON DISEASE; LEWY BODY DISEASE with dementia; and MULTIPLE SYSTEM ATROPHY are prominent examples of synucleinopathy."
+BMGC_DS17678,BMG_DS067762,ORPHANET: A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. | MONDO: A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients.
+BMGC_DS17679,BMG_DS067813,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (such as broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and variably macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight) and brain morphology anomalies (such as ventriculomegaly and myelination defects)."
+BMGC_DS17680,BMG_DS067834,"SNOMEDCT_US: A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioral problems and seizures may be associated."
+BMGC_DS17681,BMG_DS067835,"SNOMEDCT_US: A rare genetic non-dystrophic myopathy disease with characteristics of childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb muscles. Muscle biopsy shows type 1 fiber uniformity, absent or abnormally small type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration."
+BMGC_DS17682,BMG_DS067836,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disease with characteristics of global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (for example exophoria, anisometropia, amblyopia) have been reported."
+BMGC_DS17683,BMG_DS067837,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioural problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported."
+BMGC_DS17684,BMG_DS067843,"SNOMEDCT_US: Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease with characteristics of the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. | MONDO: Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated."
+BMGC_DS17685,BMG_DS067857,"SNOMEDCT_US: A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q."
+BMGC_DS17686,BMG_DS067858,
+BMGC_DS17687,BMG_DS067859,
+BMGC_DS17688,BMG_DS067860,
+BMGC_DS17689,BMG_DS067861,
+BMGC_DS17690,BMG_DS067862,
+BMGC_DS17691,BMG_DS067863,
+BMGC_DS17692,BMG_DS067864,
+BMGC_DS17693,BMG_DS067865,
+BMGC_DS17694,BMG_DS067866,
+BMGC_DS17695,BMG_DS067867,
+BMGC_DS17696,BMG_DS067868,
+BMGC_DS17697,BMG_DS067869,
+BMGC_DS17698,BMG_DS067870,
+BMGC_DS17699,BMG_DS067871,
+BMGC_DS17700,BMG_DS067872,
+BMGC_DS17701,BMG_DS067873,
+BMGC_DS17702,BMG_DS067874,
+BMGC_DS17703,BMG_DS067875,
+BMGC_DS17704,BMG_DS067876,
+BMGC_DS17705,BMG_DS067877,"ORPHANET: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin. | MONDO: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin."
+BMGC_DS17706,BMG_DS067878,
+BMGC_DS17707,BMG_DS067879,"ORPHANET: A rare neurometabolic disease characterized by infantile onset of repeated episodes of developmental regression and neurodegeneration, often triggered by febrile illnesses. Patients present with lethargy, hypotonia, irritability, gait ataxia, loss of speech, movement disorder, seizures, ophthalmoplegia, and hearing loss. Brain imaging shows generalized cerebral atrophy and bilateral basal ganglia abnormalities. Extensive skin lesions, cardiomyopathy, and pancytopenia have been reported in association. The condition is fatal in the first years of life."
+BMGC_DS17708,BMG_DS067880,
+BMGC_DS17709,BMG_DS067881,
+BMGC_DS17710,BMG_DS067882,
+BMGC_DS17711,BMG_DS067883,"ORPHANET: A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth."
+BMGC_DS17712,BMG_DS067884,
+BMGC_DS17713,BMG_DS067885,
+BMGC_DS17714,BMG_DS067886,
+BMGC_DS17715,BMG_DS067887,
+BMGC_DS17716,BMG_DS067888,
+BMGC_DS17717,BMG_DS067889,
+BMGC_DS17718,BMG_DS067890,
+BMGC_DS17719,BMG_DS067891,
+BMGC_DS17720,BMG_DS067892,
+BMGC_DS17721,BMG_DS067893,
+BMGC_DS17722,BMG_DS067894,
+BMGC_DS17723,BMG_DS067895,
+BMGC_DS17724,BMG_DS067896,
+BMGC_DS17725,BMG_DS067897,
+BMGC_DS17726,BMG_DS067898,
+BMGC_DS17727,BMG_DS067899,
+BMGC_DS17728,BMG_DS067900,
+BMGC_DS17729,BMG_DS067901,
+BMGC_DS17730,BMG_DS067902,
+BMGC_DS17731,BMG_DS067903,"NCI: An autosomal dominant susceptibility to idiopathic generalized epilepsy-15, caused by mutation(s) in the RORB gene, encoding nuclear receptor ROR-beta. The condition is characterized by early-onset generalized seizures and may have associated developmental delay."
+BMGC_DS17732,BMG_DS067904,
+BMGC_DS17733,BMG_DS067905,"MONDO: An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration."
+BMGC_DS17734,BMG_DS067906,MONDO: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.
+BMGC_DS17735,BMG_DS067907,
+BMGC_DS17736,BMG_DS067908,MONDO: Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.
+BMGC_DS17737,BMG_DS067909,"ORPHANET: A rare, genetic, neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum."
+BMGC_DS17738,BMG_DS067910,
+BMGC_DS17739,BMG_DS067911,
+BMGC_DS17740,BMG_DS067912,
+BMGC_DS17741,BMG_DS067913,
+BMGC_DS17742,BMG_DS067914,
+BMGC_DS17743,BMG_DS067915,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, infantile-onset epileptic encephalopathy, and profound developmental delay. Additional reported features include cortical visual impairment, sensorineural hearing loss, increased muscle tone, limb contractures, scoliosis, and dysmorphic features like midface hypoplasia, narrow forehead, short nose, narrowed nasal bridge, and small chin. Brain imaging may show thin corpus callosum and delayed myelination."
+BMGC_DS17744,BMG_DS067916,"ORPHANET: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay, epilepsy, generalized hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia."
+BMGC_DS17745,BMG_DS067917,
+BMGC_DS17746,BMG_DS067918,"ORPHANET: A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate."
+BMGC_DS17747,BMG_DS067919,
+BMGC_DS17748,BMG_DS067920,
+BMGC_DS17749,BMG_DS067921,
+BMGC_DS17750,BMG_DS067922,
+BMGC_DS17751,BMG_DS067923,"ORPHANET: A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal."
+BMGC_DS17752,BMG_DS067924,
+BMGC_DS17753,BMG_DS067925,"ORPHANET: A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum."
+BMGC_DS17754,BMG_DS067926,
+BMGC_DS17755,BMG_DS067927,
+BMGC_DS17756,BMG_DS067928,
+BMGC_DS17757,BMG_DS067929,
+BMGC_DS17758,BMG_DS067930,
+BMGC_DS17759,BMG_DS067931,"ORPHANET: A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal."
+BMGC_DS17760,BMG_DS067932,
+BMGC_DS17761,BMG_DS067933,
+BMGC_DS17762,BMG_DS067934,
+BMGC_DS17763,BMG_DS067935,
+BMGC_DS17764,BMG_DS067936,
+BMGC_DS17765,BMG_DS067937,
+BMGC_DS17766,BMG_DS067938,
+BMGC_DS17767,BMG_DS067939,
+BMGC_DS17768,BMG_DS067940,
+BMGC_DS17769,BMG_DS067941,
+BMGC_DS17770,BMG_DS067942,
+BMGC_DS17771,BMG_DS067943,
+BMGC_DS17772,BMG_DS067944,
+BMGC_DS17773,BMG_DS067945,
+BMGC_DS17774,BMG_DS067946,
+BMGC_DS17775,BMG_DS067947,
+BMGC_DS17776,BMG_DS067948,
+BMGC_DS17777,BMG_DS067949,
+BMGC_DS17778,BMG_DS067950,"SNOMEDCT_US: A rare ciliopathy with characteristics of congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges and retrognathia) and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis."
+BMGC_DS17779,BMG_DS067951,
+BMGC_DS17780,BMG_DS067952,
+BMGC_DS17781,BMG_DS067953,
+BMGC_DS17782,BMG_DS067954,
+BMGC_DS17783,BMG_DS067955,
+BMGC_DS17784,BMG_DS067956,
+BMGC_DS17785,BMG_DS067957,
+BMGC_DS17786,BMG_DS067958,
+BMGC_DS17787,BMG_DS067959,
+BMGC_DS17788,BMG_DS067960,
+BMGC_DS17789,BMG_DS067961,
+BMGC_DS17790,BMG_DS067962,"NCI: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B."
+BMGC_DS17791,BMG_DS067963,
+BMGC_DS17792,BMG_DS067964,MONDO: Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.
+BMGC_DS17793,BMG_DS067965,
+BMGC_DS17794,BMG_DS067966,
+BMGC_DS17795,BMG_DS067967,
+BMGC_DS17796,BMG_DS067968,
+BMGC_DS17797,BMG_DS067969,
+BMGC_DS17798,BMG_DS067970,
+BMGC_DS17799,BMG_DS067971,
+BMGC_DS17800,BMG_DS067972,
+BMGC_DS17801,BMG_DS067973,
+BMGC_DS17802,BMG_DS067974,
+BMGC_DS17803,BMG_DS067975,MONDO: Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene.
+BMGC_DS17804,BMG_DS067976,
+BMGC_DS17805,BMG_DS067977,
+BMGC_DS17806,BMG_DS067978,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the MRAS gene, encoding Ras-related protein M-Ras."
+BMGC_DS17807,BMG_DS067979,
+BMGC_DS17808,BMG_DS067980,
+BMGC_DS17809,BMG_DS067981,
+BMGC_DS17810,BMG_DS067982,
+BMGC_DS17811,BMG_DS067983,
+BMGC_DS17812,BMG_DS067984,
+BMGC_DS17813,BMG_DS067985,
+BMGC_DS17814,BMG_DS067986,
+BMGC_DS17815,BMG_DS067987,
+BMGC_DS17816,BMG_DS067988,
+BMGC_DS17817,BMG_DS067989,
+BMGC_DS17818,BMG_DS067990,
+BMGC_DS17819,BMG_DS067991,
+BMGC_DS17820,BMG_DS067992,
+BMGC_DS17821,BMG_DS067993,
+BMGC_DS17822,BMG_DS068002,
+BMGC_DS17823,BMG_DS068011,
+BMGC_DS17824,BMG_DS068012,
+BMGC_DS17825,BMG_DS068016,
+BMGC_DS17826,BMG_DS068021,HPO: A kind of anemia in which the volume of the red blood cells is reduced. [https://orcid.org/0000-0002-0736-9199] | MONDO: Anemia in which the red blood cell volume is decreased.
+BMGC_DS17827,BMG_DS068044,"MeSH: A group of inherited disorders characterized by incomplete development of the retinal vasculature. Its severity can vary from complete blindness in infancy, to mild or no visual problems, where small areas of vascular defects are observable only by FLUORESCEIN ANGIOGRAPHY. Exudative vitreoretinopathy 1 is associated with mutations in the FZD4 gene."
+BMGC_DS17828,BMG_DS068047,MeSH: Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations.
+BMGC_DS17829,BMG_DS068050,"MeSH: Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur."
+BMGC_DS17830,BMG_DS068054,
+BMGC_DS17831,BMG_DS068055,
+BMGC_DS17832,BMG_DS068056,
+BMGC_DS17833,BMG_DS068057,
+BMGC_DS17834,BMG_DS068058,"SNOMEDCT_US: The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. | MONDO: Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia."
+BMGC_DS17835,BMG_DS068065,"MeSH: Inflammation or irritation of a SYNOVIAL BURSA, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin."
+BMGC_DS17836,BMG_DS068069,
+BMGC_DS17837,BMG_DS068070,"MONDO: A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. | MeSH: Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS)."
+BMGC_DS17838,BMG_DS068071,"SNOMEDCT_US: MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype and characteristics of congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease. Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. MYH9-RD is due to mutations in the MYH9 gene (22q13.1), encoding the heavy chain of the isoform A of the non-muscle myosin of class II (myosin-9). MYH9-RD is inherited in an autosomal dominant manner with sporadic de novo mutations also being observed. | MONDO: An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD."
+BMGC_DS17839,BMG_DS068078,"HPO: Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. [https://orcid.org/0000-0001-8727-6592]"
+BMGC_DS17840,BMG_DS068080,"MONDO: The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI."
+BMGC_DS17841,BMG_DS068081,"NCI: An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis. | MONDO: Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease."
+BMGC_DS17842,BMG_DS068084,
+BMGC_DS17843,BMG_DS068085,
+BMGC_DS17844,BMG_DS068086,"NCI: Rothmund-Thomson syndrome characterized by the presence of RECQL4 gene mutations. | MONDO: Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life."
+BMGC_DS17845,BMG_DS068087,
+BMGC_DS17846,BMG_DS068088,"MONDO: A disease caused by infection with severe acute respiratory syndrome coronavirus 2. | MeSH: A viral disorder generally characterized by high FEVER; COUGH; DYSPNEA; CHILLS; PERSISTENT TREMOR; MUSCLE PAIN; HEADACHE; SORE THROAT; a new loss of taste and/or smell (see AGEUSIA and ANOSMIA) and other symptoms of a VIRAL PNEUMONIA. A coronavirus, SARS-CoV-2 VIRUS, in the genus BETACORONAVIRUS is the causative agent."
+BMGC_DS17847,BMG_DS068089,"SNOMEDCT_US: Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia with primary characteristics of congenital bitemporal scar-like depressions and a typical but variable facial dysmorphism. Caused by homozygous mutations in the TWIST2 gene, which encodes a bHLH transcription factor involved in dermal facial development in mammals. However, the majority of unrelated FFDD3 patients evaluated have had normal TWIST2 sequences, indicating the molecular genetic heterogeneity of the disorder. Many cases are sporadic. Inheritance is autosomal recessive for patients with TWIST2 mutations."
+BMGC_DS17848,BMG_DS068188,
+BMGC_DS17849,BMG_DS068269,"SNOMEDCT_US: A rare genetic neurologic disease with characteristics of primary hyperaldosteronism presenting with early-onset severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21."
+BMGC_DS17850,BMG_DS068303,"SNOMEDCT_US: A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem."
+BMGC_DS17851,BMG_DS068334,"SNOMEDCT_US: Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalised shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant."
+BMGC_DS17852,BMG_DS068336,"SNOMEDCT_US: Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation with characteristics of an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed. | MONDO: Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed."
+BMGC_DS17853,BMG_DS068339,"ORPHANET: A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men."
+BMGC_DS17854,BMG_DS068347,NCI: Paralysis of the glossopharyngeal nerve. | MONDO: Paralysis of the glossopharyngeal nerve.
+BMGC_DS17855,BMG_DS068349,"SNOMEDCT_US: A rare genetic neuro-ophthalmological disease with characteristics of progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. | MONDO: Autosomal dominant form of progressive external ophthalmoplegia."
+BMGC_DS17856,BMG_DS068351,"SNOMEDCT_US: A rare X-linked cerebellar ataxia with characteristics of a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities."
+BMGC_DS17857,BMG_DS068353,
+BMGC_DS17858,BMG_DS068354,
+BMGC_DS17859,BMG_DS068355,"MONDO: Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures."
+BMGC_DS17860,BMG_DS068356,
+BMGC_DS17861,BMG_DS068357,
+BMGC_DS17862,BMG_DS068358,
+BMGC_DS17863,BMG_DS068359,
+BMGC_DS17864,BMG_DS068360,
+BMGC_DS17865,BMG_DS068361,
+BMGC_DS17866,BMG_DS068362,
+BMGC_DS17867,BMG_DS068363,
+BMGC_DS17868,BMG_DS068364,
+BMGC_DS17869,BMG_DS068365,"NCI: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the TARS1 gene, encoding threonine-tRNA ligase 1, cytoplasmic."
+BMGC_DS17870,BMG_DS068366,
+BMGC_DS17871,BMG_DS068367,
+BMGC_DS17872,BMG_DS068368,
+BMGC_DS17873,BMG_DS068369,
+BMGC_DS17874,BMG_DS068370,
+BMGC_DS17875,BMG_DS068371,
+BMGC_DS17876,BMG_DS068372,
+BMGC_DS17877,BMG_DS068373,"SNOMEDCT_US: A rare genetic cerebral small vessel disease characterised by recurrent ischaemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar and cerebellar symptoms among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leucoencephalopathy of the cerebral hemispheres."
+BMGC_DS17878,BMG_DS068374,
+BMGC_DS17879,BMG_DS068375,
+BMGC_DS17880,BMG_DS068376,
+BMGC_DS17881,BMG_DS068377,
+BMGC_DS17882,BMG_DS068378,
+BMGC_DS17883,BMG_DS068379,
+BMGC_DS17884,BMG_DS068380,
+BMGC_DS17885,BMG_DS068381,
+BMGC_DS17886,BMG_DS068382,
+BMGC_DS17887,BMG_DS068383,
+BMGC_DS17888,BMG_DS068384,
+BMGC_DS17889,BMG_DS068385,"MONDO: Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles."
+BMGC_DS17890,BMG_DS068386,
+BMGC_DS17891,BMG_DS068387,"ORPHANET: A form of pontocerebellar hypoplasia characterized by infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases."
+BMGC_DS17892,BMG_DS068388,
+BMGC_DS17893,BMG_DS068389,
+BMGC_DS17894,BMG_DS068390,
+BMGC_DS17895,BMG_DS068391,
+BMGC_DS17896,BMG_DS068392,
+BMGC_DS17897,BMG_DS068393,
+BMGC_DS17898,BMG_DS068394,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the RRAS2 gene, encoding Ras-related protein R-Ras2."
+BMGC_DS17899,BMG_DS068395,"NCI: Rothmund-Thomson syndrome characterized by the absence of RECQL4 gene mutations. | MONDO: Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer."
+BMGC_DS17900,BMG_DS068396,
+BMGC_DS17901,BMG_DS068397,
+BMGC_DS17902,BMG_DS068398,
+BMGC_DS17903,BMG_DS068399,
+BMGC_DS17904,BMG_DS068400,
+BMGC_DS17905,BMG_DS068401,
+BMGC_DS17906,BMG_DS068402,
+BMGC_DS17907,BMG_DS068403,
+BMGC_DS17908,BMG_DS068404,
+BMGC_DS17909,BMG_DS068405,
+BMGC_DS17910,BMG_DS068406,
+BMGC_DS17911,BMG_DS068407,
+BMGC_DS17912,BMG_DS068408,
+BMGC_DS17913,BMG_DS068409,
+BMGC_DS17914,BMG_DS068410,
+BMGC_DS17915,BMG_DS068411,
+BMGC_DS17916,BMG_DS068412,
+BMGC_DS17917,BMG_DS068413,
+BMGC_DS17918,BMG_DS068414,
+BMGC_DS17919,BMG_DS068415,
+BMGC_DS17920,BMG_DS068416,
+BMGC_DS17921,BMG_DS068417,
+BMGC_DS17922,BMG_DS068418,
+BMGC_DS17923,BMG_DS068419,
+BMGC_DS17924,BMG_DS068420,
+BMGC_DS17925,BMG_DS068421,
+BMGC_DS17926,BMG_DS068422,
+BMGC_DS17927,BMG_DS068423,
+BMGC_DS17928,BMG_DS068424,
+BMGC_DS17929,BMG_DS068425,"NCI: An autosomal recessive primary ciliary motility defect caused by mutation(s) in the MCIDAS gene, encoding multicilin."
+BMGC_DS17930,BMG_DS068426,
+BMGC_DS17931,BMG_DS068427,
+BMGC_DS17932,BMG_DS068428,
+BMGC_DS17933,BMG_DS068429,
+BMGC_DS17934,BMG_DS068430,
+BMGC_DS17935,BMG_DS068431,
+BMGC_DS17936,BMG_DS068432,
+BMGC_DS17937,BMG_DS068433,
+BMGC_DS17938,BMG_DS068434,
+BMGC_DS17939,BMG_DS068435,
+BMGC_DS17940,BMG_DS068436,
+BMGC_DS17941,BMG_DS068437,
+BMGC_DS17942,BMG_DS068438,"ORPHANET: A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses."
+BMGC_DS17943,BMG_DS068439,
+BMGC_DS17944,BMG_DS068440,
+BMGC_DS17945,BMG_DS068441,
+BMGC_DS17946,BMG_DS068442,
+BMGC_DS17947,BMG_DS068443,
+BMGC_DS17948,BMG_DS068444,
+BMGC_DS17949,BMG_DS068445,
+BMGC_DS17950,BMG_DS068446,
+BMGC_DS17951,BMG_DS068447,
+BMGC_DS17952,BMG_DS068448,
+BMGC_DS17953,BMG_DS068449,
+BMGC_DS17954,BMG_DS068450,
+BMGC_DS17955,BMG_DS068451,
+BMGC_DS17956,BMG_DS068452,
+BMGC_DS17957,BMG_DS068453,
+BMGC_DS17958,BMG_DS068454,
+BMGC_DS17959,BMG_DS068455,
+BMGC_DS17960,BMG_DS068456,
+BMGC_DS17961,BMG_DS068457,
+BMGC_DS17962,BMG_DS068458,
+BMGC_DS17963,BMG_DS068459,
+BMGC_DS17964,BMG_DS068460,
+BMGC_DS17965,BMG_DS068468,ORPHANET: Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. | MONDO: Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.
+BMGC_DS17966,BMG_DS068478,
+BMGC_DS17967,BMG_DS068488,MONDO: Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.
+BMGC_DS17968,BMG_DS068490,"HPO: Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction. [https://orcid.org/0000-0002-2234-4248, PMID:18322164, PMID:19668250] | MeSH: Retrograde flow of urine from the URINARY BLADDER into the URETER. This is often due to incompetence of the vesicoureteral valve."
+BMGC_DS17969,BMG_DS068505,MeSH: Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.
+BMGC_DS17970,BMG_DS068506,"ORPHANET: A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. | MONDO: Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. | MeSH: An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2)."
+BMGC_DS17971,BMG_DS068507,"ORPHANET: A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. | MONDO: ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity."
+BMGC_DS17972,BMG_DS068509,"NCI: An autosomal recessive condition caused by mutation(s) in the TTC7A gene encoding tetratricopeptide repeat protein 7A. It is characterized by multiple intestinal atresia, multi-organ impairment and associated with T- and B-cell dysfunction."
+BMGC_DS17973,BMG_DS068512,"MeSH: Stroke due to rupture of a weakened blood vessel in the brain (e.g., CEREBRAL HEMISPHERES; CEREBELLUM; SUBARACHNOID SPACE)."
+BMGC_DS17974,BMG_DS068516,"MONDO: A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type"
+BMGC_DS17975,BMG_DS068518,MeSH: Fungal infection caused by genus CRYPTOCOCCUS.
+BMGC_DS17976,BMG_DS068519,"SNOMEDCT_US: A form of hereditary spastic paraplegia presenting with either a pure spastic paraplegia phenotype, usually in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. | MONDO: Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy."
+BMGC_DS17977,BMG_DS068520,"SNOMEDCT_US: A rare severe congenital neutropenia disorder with characteristics of lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (for example otitis media, pneumonia, sinusitis, urinary tract infections, abscess of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy have been reported in some patients. Caused by homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21. | MONDO: Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients."
+BMGC_DS17978,BMG_DS068525,"SNOMEDCT_US: Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance. | MONDO: Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia."
+BMGC_DS17979,BMG_DS068526,"MONDO: An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1."
+BMGC_DS17980,BMG_DS068535,
+BMGC_DS17981,BMG_DS068536,
+BMGC_DS17982,BMG_DS068537,MONDO: A susceptibility or predisposition to radioulnar synostosis in which the cause of the disease is a mutation in the SMAD6 gene.
+BMGC_DS17983,BMG_DS068539,"NCI: Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin. | MeSH: Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome."
+BMGC_DS17984,BMG_DS068540,"MeSH: A cluster of symptoms that are risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components not only include metabolic dysfunctions of METABOLIC SYNDROME but also HYPERTENSION, and ABDOMINAL OBESITY. | MeSH: A cluster of symptoms that are risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome include ABDOMINAL OBESITY; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state."
+BMGC_DS17985,BMG_DS068542,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging."
+BMGC_DS17986,BMG_DS068548,"MONDO: An autosomal recessive lysosomal disease caused by biallelic loss of function variants in the SMPD1 gene. Clinical symptoms in affected individuals occur along a continuum. At the severe end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type A (the neurovisceral form), which is characterized by hepatosplenomegaly with rapid neurological deterioration leading to death in the first few years of life. At the milder end of the spectrum are individuals historically diagnosed with Niemann-Pick disease type B, a later-onset, chronic visceral form, characterized by progressive visceral organ symptoms including hepatosplenomegaly and pulmonary insufficiency, and survival into adulthood. In addition, some affected individuals present with an intermediate phenotype, Niemann-Pick disease type A/B."
+BMGC_DS17987,BMG_DS068550,"ORPHANET: A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. | MONDO: A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease."
+BMGC_DS17988,BMG_DS068551,"ORPHANET: Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. | MONDO: Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency."
+BMGC_DS17989,BMG_DS068552,
+BMGC_DS17990,BMG_DS068772,"MONDO: A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. | MeSH: Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type."
+BMGC_DS17991,BMG_DS068773,MeSH: Stroke due to BRAIN ISCHEMIA resulting in interruption or reduction of blood flow to a part of the brain. When obstruction is due to a BLOOD CLOT formed within in a cerebral blood vessel it is a thrombotic stroke. When obstruction is formed elsewhere and moved to block a cerebral blood vessel (see CEREBRAL EMBOLISM) it is referred to as embolic stroke. Wake-up stroke refers to ischemic stroke occurring during sleep while cryptogenic stroke refers to ischemic stroke of unknown origin.
+BMGC_DS17992,BMG_DS068774,"MeSH: Stroke due to rupture of a weakened blood vessel in the brain (e.g., CEREBRAL HEMISPHERES; CEREBELLUM; SUBARACHNOID SPACE)."
+BMGC_DS17993,BMG_DS068781,"MeSH: A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA."
+BMGC_DS17994,BMG_DS068792,MeSH: Stroke due to BRAIN ISCHEMIA resulting in interruption or reduction of blood flow to a part of the brain. When obstruction is due to a BLOOD CLOT formed within in a cerebral blood vessel it is a thrombotic stroke. When obstruction is formed elsewhere and moved to block a cerebral blood vessel (see CEREBRAL EMBOLISM) it is referred to as embolic stroke. Wake-up stroke refers to ischemic stroke occurring during sleep while cryptogenic stroke refers to ischemic stroke of unknown origin.
+BMGC_DS17995,BMG_DS068793,MeSH: Stroke due to BRAIN ISCHEMIA resulting in interruption or reduction of blood flow to a part of the brain. When obstruction is due to a BLOOD CLOT formed within in a cerebral blood vessel it is a thrombotic stroke. When obstruction is formed elsewhere and moved to block a cerebral blood vessel (see CEREBRAL EMBOLISM) it is referred to as embolic stroke. Wake-up stroke refers to ischemic stroke occurring during sleep while cryptogenic stroke refers to ischemic stroke of unknown origin.
+BMGC_DS17996,BMG_DS068795,"MeSH: Stroke due to rupture of a weakened blood vessel in the brain (e.g., CEREBRAL HEMISPHERES; CEREBELLUM; SUBARACHNOID SPACE)."
+BMGC_DS17997,BMG_DS068805,MeSH: Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.
+BMGC_DS17998,BMG_DS068814,"MeSH: Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)."
+BMGC_DS17999,BMG_DS068815,"MeSH: A common chronic, noninflammatory and usually symptomless disorder, characterized by the occurrence of multiple macular patches of all sizes and shapes, and varying in pigmentation from fawn-colored to brown. It is seen most frequently in hot, humid, tropical regions and is mostly caused by MALASSEZIA FURFUR (formerly Pityrosporum orbiculare)."
+BMGC_DS18000,BMG_DS068819,
+BMGC_DS18001,BMG_DS068822,"MONDO: An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features."
+BMGC_DS18002,BMG_DS068823,
+BMGC_DS18003,BMG_DS068824,"NCI: An X-linked dominant condition caused by mutation(s) in the ZC4H2 gene, encoding zinc finger C4H2 domain-containing protein. It is characterized by neurogenic arthrogryposis resulting from decreased fetal movements. Additional features may include global developmental delay, peripheral neuropathy, and characteristic facies."
+BMGC_DS18004,BMG_DS068825,
+BMGC_DS18005,BMG_DS068826,"ORPHANET: A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor. | MONDO: Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage."
+BMGC_DS18006,BMG_DS068827,"NCI: An X-linked dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SMC1A gene, encoding structural maintenance of chromosomes protein 1A."
+BMGC_DS18007,BMG_DS068828,
+BMGC_DS18008,BMG_DS068829,MONDO: A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.
+BMGC_DS18009,BMG_DS068831,"NCI: An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity. | MONDO: An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity."
+BMGC_DS18010,BMG_DS068832,"ORPHANET: A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of &lt;i&gt;USP7&lt;/i&gt; gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus). | MONDO: A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of USP7 gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus)."
+BMGC_DS18011,BMG_DS068833,
+BMGC_DS18012,BMG_DS068834,
+BMGC_DS18013,BMG_DS068835,MONDO: Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.
+BMGC_DS18014,BMG_DS068836,
+BMGC_DS18015,BMG_DS068837,
+BMGC_DS18016,BMG_DS068838,
+BMGC_DS18017,BMG_DS068839,
+BMGC_DS18018,BMG_DS068840,
+BMGC_DS18019,BMG_DS068841,
+BMGC_DS18020,BMG_DS068842,
+BMGC_DS18021,BMG_DS068843,
+BMGC_DS18022,BMG_DS068844,
+BMGC_DS18023,BMG_DS068845,
+BMGC_DS18024,BMG_DS068846,
+BMGC_DS18025,BMG_DS068847,
+BMGC_DS18026,BMG_DS068848,
+BMGC_DS18027,BMG_DS068849,
+BMGC_DS18028,BMG_DS068850,
+BMGC_DS18029,BMG_DS068851,
+BMGC_DS18030,BMG_DS068852,
+BMGC_DS18031,BMG_DS068853,
+BMGC_DS18032,BMG_DS068854,
+BMGC_DS18033,BMG_DS068855,
+BMGC_DS18034,BMG_DS068856,
+BMGC_DS18035,BMG_DS068857,
+BMGC_DS18036,BMG_DS068858,
+BMGC_DS18037,BMG_DS068859,
+BMGC_DS18038,BMG_DS068860,
+BMGC_DS18039,BMG_DS068861,
+BMGC_DS18040,BMG_DS068862,
+BMGC_DS18041,BMG_DS068863,
+BMGC_DS18042,BMG_DS068864,
+BMGC_DS18043,BMG_DS068865,
+BMGC_DS18044,BMG_DS068866,
+BMGC_DS18045,BMG_DS068867,
+BMGC_DS18046,BMG_DS068868,
+BMGC_DS18047,BMG_DS068869,
+BMGC_DS18048,BMG_DS068870,
+BMGC_DS18049,BMG_DS068871,"ORPHANET: A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported."
+BMGC_DS18050,BMG_DS068872,
+BMGC_DS18051,BMG_DS068873,
+BMGC_DS18052,BMG_DS068874,
+BMGC_DS18053,BMG_DS068875,
+BMGC_DS18054,BMG_DS068876,
+BMGC_DS18055,BMG_DS068877,
+BMGC_DS18056,BMG_DS068878,"NCI: An autosomal recessive combined immunodeficiency caused by mutation(s) in the MRTFA (MKL1) gene, encoding myocardin-related transcription factor A. It is characterized by neutropenia and recurrent bacterial infections in infancy."
+BMGC_DS18057,BMG_DS068879,
+BMGC_DS18058,BMG_DS068880,
+BMGC_DS18059,BMG_DS068881,"MONDO: Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids."
+BMGC_DS18060,BMG_DS068882,
+BMGC_DS18061,BMG_DS068883,
+BMGC_DS18062,BMG_DS068884,
+BMGC_DS18063,BMG_DS068885,
+BMGC_DS18064,BMG_DS068886,
+BMGC_DS18065,BMG_DS068887,
+BMGC_DS18066,BMG_DS068888,
+BMGC_DS18067,BMG_DS068889,
+BMGC_DS18068,BMG_DS068890,
+BMGC_DS18069,BMG_DS068891,
+BMGC_DS18070,BMG_DS068892,
+BMGC_DS18071,BMG_DS068893,
+BMGC_DS18072,BMG_DS068894,
+BMGC_DS18073,BMG_DS068895,
+BMGC_DS18074,BMG_DS068896,
+BMGC_DS18075,BMG_DS068897,
+BMGC_DS18076,BMG_DS068898,
+BMGC_DS18077,BMG_DS068899,
+BMGC_DS18078,BMG_DS068900,
+BMGC_DS18079,BMG_DS068901,
+BMGC_DS18080,BMG_DS068902,
+BMGC_DS18081,BMG_DS068903,
+BMGC_DS18082,BMG_DS068904,"SNOMEDCT_US: A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet."
+BMGC_DS18083,BMG_DS068905,
+BMGC_DS18084,BMG_DS068906,
+BMGC_DS18085,BMG_DS068907,
+BMGC_DS18086,BMG_DS068908,
+BMGC_DS18087,BMG_DS068910,"ORPHANET: A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. | MONDO: A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature."
+BMGC_DS18088,BMG_DS068911,
+BMGC_DS18089,BMG_DS068912,
+BMGC_DS18090,BMG_DS068913,
+BMGC_DS18091,BMG_DS068914,
+BMGC_DS18092,BMG_DS068915,
+BMGC_DS18093,BMG_DS068916,
+BMGC_DS18094,BMG_DS068917,
+BMGC_DS18095,BMG_DS068918,
+BMGC_DS18096,BMG_DS068919,
+BMGC_DS18097,BMG_DS068920,
+BMGC_DS18098,BMG_DS068921,
+BMGC_DS18099,BMG_DS068922,
+BMGC_DS18100,BMG_DS068923,
+BMGC_DS18101,BMG_DS068924,
+BMGC_DS18102,BMG_DS068925,
+BMGC_DS18103,BMG_DS068926,
+BMGC_DS18104,BMG_DS068927,
+BMGC_DS18105,BMG_DS068928,
+BMGC_DS18106,BMG_DS068929,
+BMGC_DS18107,BMG_DS068930,
+BMGC_DS18108,BMG_DS068931,
+BMGC_DS18109,BMG_DS068932,"NCI: An autosomal dominant condition caused by mutation(s) in the GIPC1 gene, encoding PDZ domain-containing protein GIPC1. It is characterized by distal muscle weakness and ophthalmoplegia, with a slowly progressive course."
+BMGC_DS18110,BMG_DS068933,
+BMGC_DS18111,BMG_DS068934,
+BMGC_DS18112,BMG_DS068935,
+BMGC_DS18113,BMG_DS068936,
+BMGC_DS18114,BMG_DS068937,"ORPHANET: A rare genetic neurological disorder characterized by childhood to adolescence onset of progressive demyelination occurring in episodes, sensorimotor polyneuropathy, and hearing loss. Disease progression and severity is variable. In general, in a waxing and waning course, patients eventually develop respiratory insufficiency, loss of motor skills and ambulation, ataxia, and cognitive decline. Vision problems and skin rashes are commonly reported. | MONDO: A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has material basis in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1."
+BMGC_DS18115,BMG_DS068938,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose."
+BMGC_DS18116,BMG_DS068968,
+BMGC_DS18117,BMG_DS068969,
+BMGC_DS18118,BMG_DS068972,SNOMEDCT_US: A rare genetic mixed autoinflammatory and autoimmune syndrome with characteristics of chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.
+BMGC_DS18119,BMG_DS069019,"NCI: An acute myeloid leukemia with monocytic and granulocytic differentiation and the presence of a characteristically abnormal eosinophil component in the bone marrow. This type of acute myeloid leukemia has a favorable prognosis. (WHO, 2001) | MONDO: Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy."
+BMGC_DS18120,BMG_DS069445,
+BMGC_DS18121,BMG_DS069651,"ORPHANET: Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. | MONDO: Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement."
+BMGC_DS18122,BMG_DS069652,"NCI: An X-linked recessive mental retardation syndrome caused by mutation(s) in the MED12 gene, encoding mediator of RNA polymerase II transcription subunit 12. | MONDO: Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene."
+BMGC_DS18123,BMG_DS069653,"MONDO: A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1."
+BMGC_DS18124,BMG_DS069656,"NCI: A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. | MONDO: A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk."
+BMGC_DS18125,BMG_DS069659,"NCI: An X-linked recessive condition caused by mutation(s) in the SH2D1A gene, encoding SH2 domain-containing protein 1A. It is characterized by a susceptibility to severe EBV infection, acquired hypogammaglobulinemia, hemophagocytic lymphohistiocytosis, and/or lymphoma. | MONDO: A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells."
+BMGC_DS18126,BMG_DS069660,"MeSH: A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene."
+BMGC_DS18127,BMG_DS069661,"SNOMEDCT_US: A rare genetic congenital limb malformation with characteristics of brachydactyly of fingers with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. | MONDO: Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982."
+BMGC_DS18128,BMG_DS069662,"SNOMEDCT_US: A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene."
+BMGC_DS18129,BMG_DS069664,"ORPHANET: A rare genetic spondylodysplastic dysplasia characterized by short trunk/short stature, generalized platyspondyly with rounding of vertebral bodies. The vertebral bodies show less elongation compared to patients with other types of the disorder. Precocious calcification of the cerebral falx and non-specific minor facial anomalies may be associated. There have been no new reports since 1989. | MONDO: Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias."
+BMGC_DS18130,BMG_DS069665,"NCI: An intracholecystic papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is an adenocarcinoma."
+BMGC_DS18131,BMG_DS069666,NCI: An autosomal dominant form of facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat. | MONDO: Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.
+BMGC_DS18132,BMG_DS069667,"MONDO: An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome."
+BMGC_DS18133,BMG_DS069668,"HPO: A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. [https://orcid.org/0000-0002-0736-9199, PMID:22427329]"
+BMGC_DS18134,BMG_DS069669,"MONDO: Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia."
+BMGC_DS18135,BMG_DS069670,
+BMGC_DS18136,BMG_DS069671,MONDO: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.
+BMGC_DS18137,BMG_DS069672,
+BMGC_DS18138,BMG_DS069680,"HPO: Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. [https://orcid.org/0000-0002-0736-9199, PMID:21900000, PMID:22891182] | MONDO: A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever."
+BMGC_DS18139,BMG_DS069683,"SNOMEDCT_US: 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. | MONDO: A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas."
+BMGC_DS18140,BMG_DS069688,NCI: An ectopic meningioma that arises from the parapharyngeal space.
+BMGC_DS18141,BMG_DS069704,
+BMGC_DS18142,BMG_DS069705,
+BMGC_DS18143,BMG_DS069706,MONDO: Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
+BMGC_DS18144,BMG_DS069707,MONDO: Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.
+BMGC_DS18145,BMG_DS069708,"NCI: An autosomal recessive condition caused by mutation(s) in the SURF1 gene, encoding surfeit locus protein 1. It is characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills with onset between 5 and 18 months of age. It is one of several types of cytochrome c oxidase deficiencies caused by mutation(s) in nuclear encoded or mitochondrial encoded genes."
+BMGC_DS18146,BMG_DS069709,MONDO: An inherited susceptibility or predisposition to developing 1 diabetes mellitus that is caused by variation in genes located in the MHC complex on chromosome 6p21.3.
+BMGC_DS18147,BMG_DS069710,
+BMGC_DS18148,BMG_DS069711,
+BMGC_DS18149,BMG_DS069712,
+BMGC_DS18150,BMG_DS069713,"NCI: An X-linked inherited condition caused by somatic mutation(s) in the UBA1 gene, encoding ubiquitin-like modifier-activating enzyme 1. It is characterized by the adult onset of rheumatologic symptoms in males, including recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, arthralgias, facial chondritis and hematologic abnormalities. | MONDO: An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death."
+BMGC_DS18151,BMG_DS069714,
+BMGC_DS18152,BMG_DS069716,
+BMGC_DS18153,BMG_DS069718,"NCI: An autosomal recessive type of distal renal tubular acidosis caused by mutation(s) in the SLC4A1 gene, encoding band 3 anion transport protein. Additionally, it may be characterized by hemolytic anemia. | MONDO: Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia."
+BMGC_DS18154,BMG_DS069719,
+BMGC_DS18155,BMG_DS069720,MONDO: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene.
+BMGC_DS18156,BMG_DS069721,
+BMGC_DS18157,BMG_DS069722,
+BMGC_DS18158,BMG_DS069723,
+BMGC_DS18159,BMG_DS069724,
+BMGC_DS18160,BMG_DS069725,
+BMGC_DS18161,BMG_DS069726,
+BMGC_DS18162,BMG_DS069727,
+BMGC_DS18163,BMG_DS069728,
+BMGC_DS18164,BMG_DS069729,
+BMGC_DS18165,BMG_DS069730,
+BMGC_DS18166,BMG_DS069731,
+BMGC_DS18167,BMG_DS069732,
+BMGC_DS18168,BMG_DS069733,
+BMGC_DS18169,BMG_DS069734,
+BMGC_DS18170,BMG_DS069735,
+BMGC_DS18171,BMG_DS069736,
+BMGC_DS18172,BMG_DS069737,
+BMGC_DS18173,BMG_DS069738,
+BMGC_DS18174,BMG_DS069739,
+BMGC_DS18175,BMG_DS069740,
+BMGC_DS18176,BMG_DS069741,
+BMGC_DS18177,BMG_DS069742,
+BMGC_DS18178,BMG_DS069743,
+BMGC_DS18179,BMG_DS069744,
+BMGC_DS18180,BMG_DS069745,
+BMGC_DS18181,BMG_DS069746,
+BMGC_DS18182,BMG_DS069747,
+BMGC_DS18183,BMG_DS069748,
+BMGC_DS18184,BMG_DS069749,
+BMGC_DS18185,BMG_DS069750,
+BMGC_DS18186,BMG_DS069751,
+BMGC_DS18187,BMG_DS069752,
+BMGC_DS18188,BMG_DS069753,
+BMGC_DS18189,BMG_DS069754,
+BMGC_DS18190,BMG_DS069755,
+BMGC_DS18191,BMG_DS069756,
+BMGC_DS18192,BMG_DS069757,
+BMGC_DS18193,BMG_DS069758,
+BMGC_DS18194,BMG_DS069759,
+BMGC_DS18195,BMG_DS069760,
+BMGC_DS18196,BMG_DS069761,
+BMGC_DS18197,BMG_DS069762,
+BMGC_DS18198,BMG_DS069763,
+BMGC_DS18199,BMG_DS069764,
+BMGC_DS18200,BMG_DS069765,
+BMGC_DS18201,BMG_DS069766,
+BMGC_DS18202,BMG_DS069767,
+BMGC_DS18203,BMG_DS069768,
+BMGC_DS18204,BMG_DS069769,
+BMGC_DS18205,BMG_DS069770,
+BMGC_DS18206,BMG_DS069771,
+BMGC_DS18207,BMG_DS069772,
+BMGC_DS18208,BMG_DS069773,
+BMGC_DS18209,BMG_DS069774,
+BMGC_DS18210,BMG_DS069775,
+BMGC_DS18211,BMG_DS069776,
+BMGC_DS18212,BMG_DS069777,
+BMGC_DS18213,BMG_DS069778,
+BMGC_DS18214,BMG_DS069779,
+BMGC_DS18215,BMG_DS069780,
+BMGC_DS18216,BMG_DS069781,
+BMGC_DS18217,BMG_DS069782,
+BMGC_DS18218,BMG_DS069783,
+BMGC_DS18219,BMG_DS069784,
+BMGC_DS18220,BMG_DS069785,
+BMGC_DS18221,BMG_DS069786,"ORPHANET: A rare disorder of ornithine metabolism characterized by global developmental delay, alopecia, macrocephaly, and dysmorphic facial features (including high and broad forehead, hypertelorism, ptosis, blepharophimosis, downslanting palpebral fissures, deep-set eyes, large ears, and retrognathia or high arched palate). Additional reported manifestations are sensorineural hearing loss, spasticity, hypotonia, hypoplastic nails, cryptorchidism, and clinodactyly, among others. Brain imaging may show white matter abnormalities, periventricular cysts, enlarged lateral ventricles, or prominent perivascular spaces."
+BMGC_DS18222,BMG_DS069787,
+BMGC_DS18223,BMG_DS069788,
+BMGC_DS18224,BMG_DS069789,"MONDO: An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis."
+BMGC_DS18225,BMG_DS069790,
+BMGC_DS18226,BMG_DS069791,
+BMGC_DS18227,BMG_DS069792,
+BMGC_DS18228,BMG_DS069793,
+BMGC_DS18229,BMG_DS069794,"NCI: Noonan syndrome caused by autosomal dominant mutation(s) in the MAPK1 gene, encoding mitogen-activated protein kinase 1."
+BMGC_DS18230,BMG_DS069795,
+BMGC_DS18231,BMG_DS069796,"MONDO: An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems."
+BMGC_DS18232,BMG_DS069797,"MONDO: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems."
+BMGC_DS18233,BMG_DS069798,
+BMGC_DS18234,BMG_DS069799,
+BMGC_DS18235,BMG_DS069800,
+BMGC_DS18236,BMG_DS069801,
+BMGC_DS18237,BMG_DS069802,
+BMGC_DS18238,BMG_DS069803,
+BMGC_DS18239,BMG_DS069804,
+BMGC_DS18240,BMG_DS069805,
+BMGC_DS18241,BMG_DS069806,
+BMGC_DS18242,BMG_DS069807,
+BMGC_DS18243,BMG_DS069808,
+BMGC_DS18244,BMG_DS069809,
+BMGC_DS18245,BMG_DS069810,"MONDO: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene."
+BMGC_DS18246,BMG_DS069811,
+BMGC_DS18247,BMG_DS069812,
+BMGC_DS18248,BMG_DS069813,
+BMGC_DS18249,BMG_DS069814,
+BMGC_DS18250,BMG_DS069815,
+BMGC_DS18251,BMG_DS069816,
+BMGC_DS18252,BMG_DS069817,
+BMGC_DS18253,BMG_DS069818,
+BMGC_DS18254,BMG_DS069819,
+BMGC_DS18255,BMG_DS069820,
+BMGC_DS18256,BMG_DS069821,
+BMGC_DS18257,BMG_DS069822,
+BMGC_DS18258,BMG_DS069823,
+BMGC_DS18259,BMG_DS069824,
+BMGC_DS18260,BMG_DS069825,
+BMGC_DS18261,BMG_DS069826,
+BMGC_DS18262,BMG_DS069827,
+BMGC_DS18263,BMG_DS069828,
+BMGC_DS18264,BMG_DS069829,
+BMGC_DS18265,BMG_DS069830,
+BMGC_DS18266,BMG_DS069831,
+BMGC_DS18267,BMG_DS069832,
+BMGC_DS18268,BMG_DS069833,
+BMGC_DS18269,BMG_DS069834,
+BMGC_DS18270,BMG_DS069836,"NCI: A digenic recessive condition caused by mutation(s) in the ADH5 gene accompanied by a specific mutation in the ALDH2 gene. It is characterized by global developmental delay, impaired intellectual development, bone marrow failure, and myelodysplastic syndrome."
+BMGC_DS18271,BMG_DS069837,
+BMGC_DS18272,BMG_DS069838,
+BMGC_DS18273,BMG_DS069839,
+BMGC_DS18274,BMG_DS069840,"ORPHANET: A type of oculocutaneous albinism characterized by mild hypopigmentation of the skin, hair, and eyes with moderate reduction of visual acuity and nystagmus. The ocular phenotype includes moderate foveal hypoplasia, iris transillumination, and hypopigmentation of the retina."
+BMGC_DS18275,BMG_DS069841,
+BMGC_DS18276,BMG_DS069842,
+BMGC_DS18277,BMG_DS069843,
+BMGC_DS18278,BMG_DS069844,
+BMGC_DS18279,BMG_DS069845,
+BMGC_DS18280,BMG_DS069846,
+BMGC_DS18281,BMG_DS069861,
+BMGC_DS18282,BMG_DS069995,"ORPHANET: A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. | MONDO: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age."
+BMGC_DS18283,BMG_DS070023,
+BMGC_DS18284,BMG_DS070042,"SNOMEDCT_US: Blepharophimosis epicanthus inversus ptosis due to 3q23 microdeletion is a form of blepharophimosis epicanthus inversus ptosis syndrome (BPES), which in addition to the classical eyelids features of BPES, presents with genitourinary anomalies, spastic diplegia and speech delay."
+BMGC_DS18285,BMG_DS070045,MONDO: An inherited susceptibility or predisposition to developing malignant hyperthermia.
+BMGC_DS18286,BMG_DS070052,
+BMGC_DS18287,BMG_DS070067,"ORPHANET: A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure."
+BMGC_DS18288,BMG_DS070144,
+BMGC_DS18289,BMG_DS070240,"ORPHANET: A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. | MONDO: Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay."
+BMGC_DS18290,BMG_DS070248,"MONDO: Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development."
+BMGC_DS18291,BMG_DS070249,ORPHANET: Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the &lt;i&gt;PLP1&lt;/i&gt; gene (Xq22). | MONDO: Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).
+BMGC_DS18292,BMG_DS070250,"MONDO: Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities."
+BMGC_DS18293,BMG_DS070251,"MONDO: Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities."
+BMGC_DS18294,BMG_DS070281,"SNOMEDCT_US: This is a rare autosomal recessive genetic and endocrine syndrome, characterized by a complete inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testosterone."
+BMGC_DS18295,BMG_DS070282,"SNOMEDCT_US: This is a rare autosomal recessive genetic and endocrine syndrome, characterized by a partial inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testosterone."
+BMGC_DS18296,BMG_DS070333,"ORPHANET: A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed."
+BMGC_DS18297,BMG_DS070379,ORPHANET: The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. | MONDO: The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
+BMGC_DS18298,BMG_DS070407,"MeSH: A type of ILEUS, a functional not mechanical obstruction of the INTESTINES. This syndrome is caused by a large number of disorders involving the smooth muscles (MUSCLE, SMOOTH) or the NERVOUS SYSTEM."
+BMGC_DS18299,BMG_DS070408,"SNOMEDCT_US: A rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive. | MONDO: Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive."
+BMGC_DS18300,BMG_DS070410,"HPO: Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. [https://orcid.org/0000-0002-0736-9199] | MONDO: A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features."
+BMGC_DS18301,BMG_DS070412,MONDO: Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene.
+BMGC_DS18302,BMG_DS070413,MONDO: Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.
+BMGC_DS18303,BMG_DS070415,"SNOMEDCT_US: An autosomal recessive disorder with characteristics of ocular and neurodevelopmental defects and micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families. | MONDO: Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism."
+BMGC_DS18304,BMG_DS070416,"SNOMEDCT_US: PCH1 often has prenatal characteristics of polyhydramnios with arthrogryposis multiplex congenita. Neonates with PCH1 present with hypotonia, impaired swallowing with consequent feeding difficulties and progressive microcephaly which mostly develops postnatally. Subsequently a severe psychomotor deficit becomes apparent. The clinical course is severe. About 40 patients with PCH1 have been reported. To date recessive mutations have been noted in the EXOSC3 gene and in single cases recessive mutations have been found in the tRNA splicing endonuclease homolog 54 (TSEN54), mitochondrial arginyl-transfer RNA synthetase (RARS2), and in the vaccinia-related kinase 1 (VRK1) gene. PCH1 has an autosomal recessive transmission. | MONDO: Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death."
+BMGC_DS18305,BMG_DS070417,"MONDO: An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32."
+BMGC_DS18306,BMG_DS070418,MONDO: Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.
+BMGC_DS18307,BMG_DS070420,NCI: Clinically meaningful cytopenia in one or more hematopoietic cell lineages. Clonal hematopoiesis is present with the variant allele frequency (VAF) equal or more that 2 percent. There is no other evidence of hematologic malignancy.
+BMGC_DS18308,BMG_DS070425,
+BMGC_DS18309,BMG_DS070426,
+BMGC_DS18310,BMG_DS070427,
+BMGC_DS18311,BMG_DS070428,
+BMGC_DS18312,BMG_DS070429,
+BMGC_DS18313,BMG_DS070430,MeSH: An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.
+BMGC_DS18314,BMG_DS070435,"ORPHANET: Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. | MONDO: Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life."
+BMGC_DS18315,BMG_DS070442,NCI: Severe congenital neutropenia inherited in an autosomal recessive pattern.
+BMGC_DS18316,BMG_DS070444,"NCI: An X-linked genetic condition caused by duplication of a small segment of Xq25, which may encompass the GRIA3 and STAG2 genes, encoding glutamate receptor 3 and cohesin subunit SA-2. It is characterized by intellectual disability and distinctive facial dysmorphisms."
+BMGC_DS18317,BMG_DS070445,NCI: A squamous cell carcinoma that arises from the lacrimal sac and/or canaliculi. it is exceedingly rare in the nasolacrimal duct. (WHO 2018)
+BMGC_DS18318,BMG_DS070503,"HPO: Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction. [https://orcid.org/0000-0002-2234-4248, PMID:18322164, PMID:19668250] | MeSH: Retrograde flow of urine from the URINARY BLADDER into the URETER. This is often due to incompetence of the vesicoureteral valve."
+BMGC_DS18319,BMG_DS070504,
+BMGC_DS18320,BMG_DS070505,
+BMGC_DS18321,BMG_DS070506,"NCI: An autosomal dominant type of functional intestinal obstruction caused by mutation(s) in the ACTG2 gene, encoding actin, gamma-enteric smooth muscle."
+BMGC_DS18322,BMG_DS070507,MONDO: A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.
+BMGC_DS18323,BMG_DS070508,"MONDO: A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma)."
+BMGC_DS18324,BMG_DS070509,"MONDO: This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism."
+BMGC_DS18325,BMG_DS070510,
+BMGC_DS18326,BMG_DS070511,
+BMGC_DS18327,BMG_DS070512,
+BMGC_DS18328,BMG_DS070513,
+BMGC_DS18329,BMG_DS070514,
+BMGC_DS18330,BMG_DS070516,"MONDO: A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent."
+BMGC_DS18331,BMG_DS070517,MONDO: Any Olmsted syndrome in which the cause of the disease is a variation in the TRPV3 gene.
+BMGC_DS18332,BMG_DS070518,
+BMGC_DS18333,BMG_DS070519,
+BMGC_DS18334,BMG_DS070520,"MONDO: An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood."
+BMGC_DS18335,BMG_DS070521,"ORPHANET: A rare genetic neurodegenerative disease characterized by childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present."
+BMGC_DS18336,BMG_DS070522,
+BMGC_DS18337,BMG_DS070523,
+BMGC_DS18338,BMG_DS070524,
+BMGC_DS18339,BMG_DS070525,
+BMGC_DS18340,BMG_DS070526,
+BMGC_DS18341,BMG_DS070527,
+BMGC_DS18342,BMG_DS070528,
+BMGC_DS18343,BMG_DS070529,
+BMGC_DS18344,BMG_DS070530,
+BMGC_DS18345,BMG_DS070531,"NCI: An autosomal recessive syndromic condition caused by mutations(s) in the UBR7 gene, encoding putative E3 ubiquitin-protein ligase UBR7. It is characterized by global developmental delay, impaired intellectual development, dysmorphic facial features, variable cardiac and urogenital system abnormalites, and hypothyroidism."
+BMGC_DS18346,BMG_DS070532,
+BMGC_DS18347,BMG_DS070533,
+BMGC_DS18348,BMG_DS070534,
+BMGC_DS18349,BMG_DS070536,
+BMGC_DS18350,BMG_DS070537,
+BMGC_DS18351,BMG_DS070538,
+BMGC_DS18352,BMG_DS070539,
+BMGC_DS18353,BMG_DS070540,
+BMGC_DS18354,BMG_DS070541,
+BMGC_DS18355,BMG_DS070542,
+BMGC_DS18356,BMG_DS070543,
+BMGC_DS18357,BMG_DS070544,
+BMGC_DS18358,BMG_DS070545,"SNOMEDCT_US: A rare genetic immune disease with characteristics of infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets and neutrophils and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinaemia."
+BMGC_DS18359,BMG_DS070546,
+BMGC_DS18360,BMG_DS070547,
+BMGC_DS18361,BMG_DS070548,
+BMGC_DS18362,BMG_DS070549,
+BMGC_DS18363,BMG_DS070550,
+BMGC_DS18364,BMG_DS070551,
+BMGC_DS18365,BMG_DS070552,
+BMGC_DS18366,BMG_DS070553,
+BMGC_DS18367,BMG_DS070554,
+BMGC_DS18368,BMG_DS070555,
+BMGC_DS18369,BMG_DS070556,
+BMGC_DS18370,BMG_DS070557,
+BMGC_DS18371,BMG_DS070558,
+BMGC_DS18372,BMG_DS070559,
+BMGC_DS18373,BMG_DS070560,
+BMGC_DS18374,BMG_DS070561,
+BMGC_DS18375,BMG_DS070562,
+BMGC_DS18376,BMG_DS070563,
+BMGC_DS18377,BMG_DS070564,
+BMGC_DS18378,BMG_DS070565,
+BMGC_DS18379,BMG_DS070566,
+BMGC_DS18380,BMG_DS070567,
+BMGC_DS18381,BMG_DS070568,
+BMGC_DS18382,BMG_DS070569,
+BMGC_DS18383,BMG_DS070570,
+BMGC_DS18384,BMG_DS070571,
+BMGC_DS18385,BMG_DS070572,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment,dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness."
+BMGC_DS18386,BMG_DS070573,
+BMGC_DS18387,BMG_DS070574,
+BMGC_DS18388,BMG_DS070575,"NCI: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the UQCRC1 gene, encoding cytochrome b-c1 complex subunit 1, mitochondrial."
+BMGC_DS18389,BMG_DS070576,
+BMGC_DS18390,BMG_DS070577,
+BMGC_DS18391,BMG_DS070578,
+BMGC_DS18392,BMG_DS070579,"MONDO: A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2."
+BMGC_DS18393,BMG_DS070580,"ORPHANET: A form of pontocerebellar hypoplasia characterized by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anemia and thrombocytopenia have also been reported."
+BMGC_DS18394,BMG_DS070581,
+BMGC_DS18395,BMG_DS070582,
+BMGC_DS18396,BMG_DS070583,
+BMGC_DS18397,BMG_DS070584,
+BMGC_DS18398,BMG_DS070585,
+BMGC_DS18399,BMG_DS070586,
+BMGC_DS18400,BMG_DS070587,"MONDO: A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females."
+BMGC_DS18401,BMG_DS070588,MONDO: An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.
+BMGC_DS18402,BMG_DS070589,
+BMGC_DS18403,BMG_DS070590,
+BMGC_DS18404,BMG_DS070591,
+BMGC_DS18405,BMG_DS070592,
+BMGC_DS18406,BMG_DS070593,
+BMGC_DS18407,BMG_DS070594,
+BMGC_DS18408,BMG_DS070595,
+BMGC_DS18409,BMG_DS070596,
+BMGC_DS18410,BMG_DS070597,
+BMGC_DS18411,BMG_DS070598,"ORPHANET: A rare Prader-Willi-like syndrome characterized by intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed."
+BMGC_DS18412,BMG_DS070599,"NCI: An autosomal dominant condition caused by mutation(s) in the CLDN11 gene, encoding claudin-11. It is characterized by global developmental delay, mild impaired intellectual development, limited ability to walk, and hypomyelinating leukodystrophy on MRI."
+BMGC_DS18413,BMG_DS070600,
+BMGC_DS18414,BMG_DS070601,
+BMGC_DS18415,BMG_DS070602,
+BMGC_DS18416,BMG_DS070603,
+BMGC_DS18417,BMG_DS070604,
+BMGC_DS18418,BMG_DS070605,
+BMGC_DS18419,BMG_DS070606,
+BMGC_DS18420,BMG_DS070607,
+BMGC_DS18421,BMG_DS070608,
+BMGC_DS18422,BMG_DS070609,
+BMGC_DS18423,BMG_DS070610,
+BMGC_DS18424,BMG_DS070611,
+BMGC_DS18425,BMG_DS070612,
+BMGC_DS18426,BMG_DS070613,
+BMGC_DS18427,BMG_DS070614,
+BMGC_DS18428,BMG_DS070615,
+BMGC_DS18429,BMG_DS070616,
+BMGC_DS18430,BMG_DS070617,
+BMGC_DS18431,BMG_DS070618,
+BMGC_DS18432,BMG_DS070619,
+BMGC_DS18433,BMG_DS070620,"MONDO: A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13."
+BMGC_DS18434,BMG_DS070621,
+BMGC_DS18435,BMG_DS070622,"MONDO: A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene."
+BMGC_DS18436,BMG_DS070623,"MONDO: An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance."
+BMGC_DS18437,BMG_DS070624,
+BMGC_DS18438,BMG_DS070625,"NCI: An exceedingly rare autosomal recessive condition caused by mutation (s) in the UNC45A gene, encoding protein unc-45 homolog A. It is characterized neonatal cholestasis, deafness, and bone fragility."
+BMGC_DS18439,BMG_DS070626,
+BMGC_DS18440,BMG_DS070627,
+BMGC_DS18441,BMG_DS070628,"MONDO: A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway."
+BMGC_DS18442,BMG_DS070629,
+BMGC_DS18443,BMG_DS070630,
+BMGC_DS18444,BMG_DS070631,
+BMGC_DS18445,BMG_DS070632,
+BMGC_DS18446,BMG_DS070633,
+BMGC_DS18447,BMG_DS070634,
+BMGC_DS18448,BMG_DS070635,
+BMGC_DS18449,BMG_DS070636,
+BMGC_DS18450,BMG_DS070637,
+BMGC_DS18451,BMG_DS070638,
+BMGC_DS18452,BMG_DS070639,
+BMGC_DS18453,BMG_DS070640,
+BMGC_DS18454,BMG_DS070641,
+BMGC_DS18455,BMG_DS070642,"MONDO: An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination."
+BMGC_DS18456,BMG_DS070643,
+BMGC_DS18457,BMG_DS070644,
+BMGC_DS18458,BMG_DS070645,
+BMGC_DS18459,BMG_DS070646,
+BMGC_DS18460,BMG_DS070647,
+BMGC_DS18461,BMG_DS070648,
+BMGC_DS18462,BMG_DS070678,MeSH: Diseases characterized by inflammation of the nervous tissue.
+BMGC_DS18463,BMG_DS070680,"MeSH: A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)"
+BMGC_DS18464,BMG_DS070692,"MeSH: Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2)."
+BMGC_DS18465,BMG_DS070790,"ORPHANET: A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails."
+BMGC_DS18466,BMG_DS070883,ORPHANET: Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin. | MONDO: Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.
+BMGC_DS18467,BMG_DS071119,"ORPHANET: An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by a variable mixture of progressive asymmetric limb rigidity, apraxia, cortical sensory loss, alien limb, dystonia and bradykinesia that is unresponsive to levodopa. Postural instability and axial rigidity develop as the disease progresses. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the midfrontal and inferior parietal cortices. | MONDO: PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease."
+BMGC_DS18468,BMG_DS071124,ORPHANET: A rare form of glycine encephalopathy presenting disease onset or clinical manifestations that differ from neonatal or infantile glycine encephalopathy.
+BMGC_DS18469,BMG_DS071125,"ORPHANET: Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. | MONDO: Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay."
+BMGC_DS18470,BMG_DS071126,
+BMGC_DS18471,BMG_DS071130,"ORPHANET: Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures. | MONDO: Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures."
+BMGC_DS18472,BMG_DS071133,MONDO: Autosomal dominant form of distal hereditary motor neuropathy.
+BMGC_DS18473,BMG_DS071134,
+BMGC_DS18474,BMG_DS071188,MONDO: Autosomal recessive form of distal hereditary motor neuropathy.
+BMGC_DS18475,BMG_DS071189,"ORPHANET: An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP."
+BMGC_DS18476,BMG_DS071202,"MONDO: Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2. | MeSH: A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation."
+BMGC_DS18477,BMG_DS071204,
+BMGC_DS18478,BMG_DS071209,"MONDO: An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea."
+BMGC_DS18479,BMG_DS071210,"MONDO: A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness."
+BMGC_DS18480,BMG_DS071211,"MONDO: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification."
+BMGC_DS18481,BMG_DS071212,
+BMGC_DS18482,BMG_DS071214,
+BMGC_DS18483,BMG_DS071215,
+BMGC_DS18484,BMG_DS071217,"MONDO: A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
+BMGC_DS18485,BMG_DS071220,
+BMGC_DS18486,BMG_DS071221,"HPO: A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. [HPO_CONTRIBUTOR:jalbers, PMID:28276060, PMID:28276062, PMID:28276064, PMID:6790275]"
+BMGC_DS18487,BMG_DS071223,"HPO: The presence of a seminoma, an undifferentiated germ cell tumor of the testis. [https://orcid.org/0009-0006-4530-3154] | MONDO: A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma."
+BMGC_DS18488,BMG_DS071224,"MONDO: Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. | MeSH: Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental."
+BMGC_DS18489,BMG_DS071227,
+BMGC_DS18490,BMG_DS071229,MONDO: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.
+BMGC_DS18491,BMG_DS071232,"ORPHANET: A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly &lt;i&gt;Staphylococcus aureus&lt;/i&gt;, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation."
+BMGC_DS18492,BMG_DS071233,"ORPHANET: Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. | MONDO: Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development."
+BMGC_DS18493,BMG_DS071234,MONDO: An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene.
+BMGC_DS18494,BMG_DS071235,"ORPHANET: A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. | MONDO: A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes."
+BMGC_DS18495,BMG_DS071240,"NCI: An aggressive, high-grade malignant neoplasm characterized by biallelic inactivation of SMARCA4 gene. It affects adults, usually heavy smokers, and involves the thorax (lung, pulmonary hilum, mediastinum, and/or pleura) with or without chest wall invasion. It is composed of sheets of malignant large round to epithelioid cells. Rhabdoid cells may be present. Increased number of mitoses and necrosis are frequently seen. The prognosis is poor."
+BMGC_DS18496,BMG_DS071241,"ORPHANET: Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). | MONDO: Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria)."
+BMGC_DS18497,BMG_DS071242,"ORPHANET: Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability). | MONDO: Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability)."
+BMGC_DS18498,BMG_DS071257,"NCI: A group of genetic disorders associated with mutation(s) in genes that are constituents of the RAS signaling pathway. These disorders are characterized by distinct facial features, developmental delays, cardiac defects, growth delays, and feeding problems. Representative examples include: neurofibromatosis type 1, capillary malformation-arteriovenous malformation syndrome, cardiofaciocutaneous syndrome, Costello syndrome, multiple lentigines syndrome, and Noonan syndrome. | MONDO: Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction."
+BMGC_DS18499,BMG_DS071258,"NCI: An autosomal dominant condition caused by mutation(s) in the KLHL24 gene, encoding kelch-like protein 24. It is characterized by epidermolysis bullosa and dilated cardiomyopathy."
+BMGC_DS18500,BMG_DS071260,NCI: A rare adenocarcinoma that arises from the broad ligament.
+BMGC_DS18501,BMG_DS071261,NCI: A rare mucinous adenocarcinoma that arises from the broad ligament.
+BMGC_DS18502,BMG_DS071262,NCI: A rare endometrioid adenocarcinoma that arises from the broad ligament. Some of the reported cases were associated with endometriosis.
+BMGC_DS18503,BMG_DS071263,NCI: A rare clear cell adenocarcinoma that arises from the broad ligament.
+BMGC_DS18504,BMG_DS071264,NCI: An adenomyoma that arises from the cervix and is characterized by the presence of glands showing mesonephric differentiation and a smooth muscle cell component. There is no atypia or significant mitotic activity present.
+BMGC_DS18505,BMG_DS071275,"MONDO: Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction."
+BMGC_DS18506,BMG_DS071276,MONDO: Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.
+BMGC_DS18507,BMG_DS071277,MONDO: A nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.
+BMGC_DS18508,BMG_DS071278,MONDO: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.
+BMGC_DS18509,BMG_DS071279,"MONDO: Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days."
+BMGC_DS18510,BMG_DS071280,"MONDO: A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy."
+BMGC_DS18511,BMG_DS071281,
+BMGC_DS18512,BMG_DS071282,
+BMGC_DS18513,BMG_DS071283,
+BMGC_DS18514,BMG_DS071284,"MONDO: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards."
+BMGC_DS18515,BMG_DS071285,
+BMGC_DS18516,BMG_DS071286,"MONDO: STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3)."
+BMGC_DS18517,BMG_DS071287,MONDO: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene.
+BMGC_DS18518,BMG_DS071288,
+BMGC_DS18519,BMG_DS071289,"MONDO: A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed."
+BMGC_DS18520,BMG_DS071290,
+BMGC_DS18521,BMG_DS071291,
+BMGC_DS18522,BMG_DS071292,
+BMGC_DS18523,BMG_DS071293,
+BMGC_DS18524,BMG_DS071294,
+BMGC_DS18525,BMG_DS071295,
+BMGC_DS18526,BMG_DS071296,
+BMGC_DS18527,BMG_DS071297,
+BMGC_DS18528,BMG_DS071298,
+BMGC_DS18529,BMG_DS071299,
+BMGC_DS18530,BMG_DS071300,
+BMGC_DS18531,BMG_DS071301,
+BMGC_DS18532,BMG_DS071302,
+BMGC_DS18533,BMG_DS071303,
+BMGC_DS18534,BMG_DS071304,
+BMGC_DS18535,BMG_DS071305,
+BMGC_DS18536,BMG_DS071306,"NCI: An autosomal recessive condition caused by mutation(s) in the IPO8 gene, encoding importin-8. It is a generalized connective tissue disorder resulting in skin laxity, vascular aneurysms, immune dysregulation, and skeletal anomalies."
+BMGC_DS18537,BMG_DS071307,
+BMGC_DS18538,BMG_DS071308,
+BMGC_DS18539,BMG_DS071309,
+BMGC_DS18540,BMG_DS071310,
+BMGC_DS18541,BMG_DS071311,
+BMGC_DS18542,BMG_DS071312,
+BMGC_DS18543,BMG_DS071313,
+BMGC_DS18544,BMG_DS071314,
+BMGC_DS18545,BMG_DS071315,
+BMGC_DS18546,BMG_DS071316,
+BMGC_DS18547,BMG_DS071317,"MONDO: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure."
+BMGC_DS18548,BMG_DS071318,
+BMGC_DS18549,BMG_DS071319,
+BMGC_DS18550,BMG_DS071320,
+BMGC_DS18551,BMG_DS071321,"MONDO: A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13."
+BMGC_DS18552,BMG_DS071322,
+BMGC_DS18553,BMG_DS071323,
+BMGC_DS18554,BMG_DS071324,
+BMGC_DS18555,BMG_DS071325,
+BMGC_DS18556,BMG_DS071326,
+BMGC_DS18557,BMG_DS071327,
+BMGC_DS18558,BMG_DS071328,
+BMGC_DS18559,BMG_DS071329,
+BMGC_DS18560,BMG_DS071330,
+BMGC_DS18561,BMG_DS071331,
+BMGC_DS18562,BMG_DS071332,
+BMGC_DS18563,BMG_DS071333,
+BMGC_DS18564,BMG_DS071334,
+BMGC_DS18565,BMG_DS071335,
+BMGC_DS18566,BMG_DS071336,
+BMGC_DS18567,BMG_DS071337,
+BMGC_DS18568,BMG_DS071338,
+BMGC_DS18569,BMG_DS071339,
+BMGC_DS18570,BMG_DS071340,
+BMGC_DS18571,BMG_DS071341,
+BMGC_DS18572,BMG_DS071342,
+BMGC_DS18573,BMG_DS071343,
+BMGC_DS18574,BMG_DS071344,
+BMGC_DS18575,BMG_DS071345,
+BMGC_DS18576,BMG_DS071346,
+BMGC_DS18577,BMG_DS071347,
+BMGC_DS18578,BMG_DS071348,
+BMGC_DS18579,BMG_DS071349,
+BMGC_DS18580,BMG_DS071350,
+BMGC_DS18581,BMG_DS071351,
+BMGC_DS18582,BMG_DS071352,
+BMGC_DS18583,BMG_DS071353,
+BMGC_DS18584,BMG_DS071354,
+BMGC_DS18585,BMG_DS071355,
+BMGC_DS18586,BMG_DS071356,
+BMGC_DS18587,BMG_DS071357,
+BMGC_DS18588,BMG_DS071358,
+BMGC_DS18589,BMG_DS071359,
+BMGC_DS18590,BMG_DS071360,
+BMGC_DS18591,BMG_DS071361,
+BMGC_DS18592,BMG_DS071362,
+BMGC_DS18593,BMG_DS071363,
+BMGC_DS18594,BMG_DS071364,
+BMGC_DS18595,BMG_DS071365,
+BMGC_DS18596,BMG_DS071366,
+BMGC_DS18597,BMG_DS071367,
+BMGC_DS18598,BMG_DS071368,
+BMGC_DS18599,BMG_DS071369,
+BMGC_DS18600,BMG_DS071370,
+BMGC_DS18601,BMG_DS071371,
+BMGC_DS18602,BMG_DS071372,
+BMGC_DS18603,BMG_DS071373,
+BMGC_DS18604,BMG_DS071374,
+BMGC_DS18605,BMG_DS071375,"MONDO: An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines."
+BMGC_DS18606,BMG_DS071376,
+BMGC_DS18607,BMG_DS071377,
+BMGC_DS18608,BMG_DS071378,
+BMGC_DS18609,BMG_DS071379,
+BMGC_DS18610,BMG_DS071380,
+BMGC_DS18611,BMG_DS071381,
+BMGC_DS18612,BMG_DS071382,
+BMGC_DS18613,BMG_DS071383,
+BMGC_DS18614,BMG_DS071384,
+BMGC_DS18615,BMG_DS071385,
+BMGC_DS18616,BMG_DS071386,
+BMGC_DS18617,BMG_DS071387,
+BMGC_DS18618,BMG_DS071388,"MONDO: An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative."
+BMGC_DS18619,BMG_DS071389,
+BMGC_DS18620,BMG_DS071390,
+BMGC_DS18621,BMG_DS071391,
+BMGC_DS18622,BMG_DS071392,
+BMGC_DS18623,BMG_DS071393,
+BMGC_DS18624,BMG_DS071394,
+BMGC_DS18625,BMG_DS071395,
+BMGC_DS18626,BMG_DS071396,
+BMGC_DS18627,BMG_DS071397,
+BMGC_DS18628,BMG_DS071398,
+BMGC_DS18629,BMG_DS071399,
+BMGC_DS18630,BMG_DS071400,
+BMGC_DS18631,BMG_DS071401,
+BMGC_DS18632,BMG_DS071402,
+BMGC_DS18633,BMG_DS071403,
+BMGC_DS18634,BMG_DS071404,
+BMGC_DS18635,BMG_DS071405,
+BMGC_DS18636,BMG_DS071406,
+BMGC_DS18637,BMG_DS071407,"MONDO: An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy."
+BMGC_DS18638,BMG_DS071408,
+BMGC_DS18639,BMG_DS071409,
+BMGC_DS18640,BMG_DS071410,
+BMGC_DS18641,BMG_DS071411,
+BMGC_DS18642,BMG_DS071412,
+BMGC_DS18643,BMG_DS071413,
+BMGC_DS18644,BMG_DS071414,
+BMGC_DS18645,BMG_DS071415,
+BMGC_DS18646,BMG_DS071416,
+BMGC_DS18647,BMG_DS071417,
+BMGC_DS18648,BMG_DS071418,"MONDO: An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation."
+BMGC_DS18649,BMG_DS071419,
+BMGC_DS18650,BMG_DS071420,
+BMGC_DS18651,BMG_DS071421,"MONDO: An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease."
+BMGC_DS18652,BMG_DS071422,
+BMGC_DS18653,BMG_DS071423,"MONDO: A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients."
+BMGC_DS18654,BMG_DS071424,
+BMGC_DS18655,BMG_DS071444,"MONDO: X-linked form of anosmia, isolated congenital."
+BMGC_DS18656,BMG_DS071446,
+BMGC_DS18657,BMG_DS071453,
+BMGC_DS18658,BMG_DS071477,
+BMGC_DS18659,BMG_DS071499,"SNOMEDCT_US: An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact etiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. | MONDO: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females."
+BMGC_DS18660,BMG_DS071509,SNOMEDCT_US: Muscle beta-enolase deficiency is a glycolysis with clinical characteristics of exercise intolerance and myalgia due to severe enolase deficiency in muscle.
+BMGC_DS18661,BMG_DS071649,"SNOMEDCT_US: A rare syndromic genetic deafness with characteristics of congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent."
+BMGC_DS18662,BMG_DS071650,"SNOMEDCT_US: A rare genetic neurodegenerative disease with characteristics of childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum."
+BMGC_DS18663,BMG_DS071652,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Additional reported manifestations include seizures, optic atrophy, cortical visual impairment, scoliosis, and dysphagia. Brain imaging shows pontine hypoplasia, partial agenesis of the corpus callosum, and diffuse cerebral atrophy with relative sparing of the cerebellum."
+BMGC_DS18664,BMG_DS071661,"SNOMEDCT_US: A rare primary bone dysplasia with characteristics of reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence."
+BMGC_DS18665,BMG_DS071703,"SNOMEDCT_US: A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age."
+BMGC_DS18666,BMG_DS071704,"SNOMEDCT_US: A rare genetic neurodegenerative disease with characteristics of neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life."
+BMGC_DS18667,BMG_DS071705,"SNOMEDCT_US: A rare complex hereditary spastic paraplegia with characteristics of neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement."
+BMGC_DS18668,BMG_DS071706,"SNOMEDCT_US: A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects."
+BMGC_DS18669,BMG_DS071707,"SNOMEDCT_US: A rare severe early-onset neurodegenerative encephalopathy with main characteristic developmental delay/regression, epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. This syndrome is caused by biallelic pathogenic variants in TBCD gene (17q25.3), encoding tubulin folding co-factor D (TBCD), one of five co-chaperones required for microtubule assembly dynamics. The pattern of inheritance is autosomal recessive."
+BMGC_DS18670,BMG_DS071708,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons."
+BMGC_DS18671,BMG_DS071709,"SNOMEDCT_US: A rare leucodystrophy characterised by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures."
+BMGC_DS18672,BMG_DS071710,"SNOMEDCT_US: A rare genetic hyperkinetic movement disorder with predominant characteristics of chorea of variable severity associated with bilateral striatal abnormalities on cerebral MRI. The disease is not progressive and cognitive performance is preserved in the majority of cases, although mild cognitive delay has also been reported."
+BMGC_DS18673,BMG_DS071711,"SNOMEDCT_US: A rare hyperkinetic movement disorder with characteristics of delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved."
+BMGC_DS18674,BMG_DS071712,"SNOMEDCT_US: A rare genetic disease with characteristics of progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency."
+BMGC_DS18675,BMG_DS071713,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears) and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination."
+BMGC_DS18676,BMG_DS071715,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, hypotonia, seizures and autism spectrum disorder. Variable associated features include ophthalmologic anomalies, congenital heart defects, genitourinary defects and craniofacial dysmorphism (including frontal bossing, epicanthal folds, low-set, posteriorly rotated ears, anteverted nares and micrognathia). Brain imaging may show thinning of the corpus callosum, white matter abnormalities, ventriculomegaly and a small cerebellar vermis."
+BMGC_DS18677,BMG_DS071716,"SNOMEDCT_US: A rare inherited cancer-predisposing syndrome characterised by adult onset of haematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukaemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of haematologic malignancies."
+BMGC_DS18678,BMG_DS071717,"SNOMEDCT_US: A rare congenital disorder of glycosylation with characteristics of early onset of hypotonia, severe global developmental delay, intellectual disability, and seizures. Ataxia, mild facial dysmorphism and autistic behavior have also been reported. Brain MRI findings are variable and include cerebral atrophy, cerebellar hypoplasia/atrophy and thin corpus callosum."
+BMGC_DS18679,BMG_DS071718,"SNOMEDCT_US: A rare genetic syndromic intellectual disability with characteristics of usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (including loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphism (including plagiocephaly/brachycephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. | MONDO: A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features."
+BMGC_DS18680,BMG_DS071719,"SNOMEDCT_US: A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly or arachnoid cysts."
+BMGC_DS18681,BMG_DS071720,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea) or mild dysmorphic features."
+BMGC_DS18682,BMG_DS071721,"SNOMEDCT_US: A rare complex hereditary spastic paraplegia with characteristics of adult onset slowly progressive mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. | MONDO: Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration."
+BMGC_DS18683,BMG_DS071722,"SNOMEDCT_US: A rare frontonasal dysplasia with characteristics of a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge and broad nasal tip. Large anterior fontanel, sagittal synostosis, and cranial base anomalies have also been described."
+BMGC_DS18684,BMG_DS071723,SNOMEDCT_US: A rare predominantly axonal hereditary motor and sensory neuropathy with characteristics of broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable ranging from childhood to late adulthood. | MONDO: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene.
+BMGC_DS18685,BMG_DS071724,"SNOMEDCT_US: A rare genetic syndrome with limb malformations as a major feature with characteristics of unilateral or bilateral split-foot malformation, nail abnormalities of the hand and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described."
+BMGC_DS18686,BMG_DS071726,"SNOMEDCT_US: A rare genetic female infertility with characteristics of oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either shows fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles."
+BMGC_DS18687,BMG_DS071730,"SNOMEDCT_US: A rare sterol biosynthesis disorder characterised by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity and immune dysregulation. Behavioural disorder, joint contractures and arthralgia have also been described."
+BMGC_DS18688,BMG_DS071731,"SNOMEDCT_US: A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor."
+BMGC_DS18689,BMG_DS071732,"SNOMEDCT_US: A rare genetic motor neuron disease with characteristics of decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita) and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure."
+BMGC_DS18690,BMG_DS071734,"SNOMEDCT_US: A rare genetic disease with characteristics of congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, high arched palate). Female carriers exhibit a variable milder phenotype."
+BMGC_DS18691,BMG_DS071735,"SNOMEDCT_US: A rare autosomal recessive distal myopathy with characteristics of slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles and focal endomysial fibrosis. | MONDO: Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene."
+BMGC_DS18692,BMG_DS071736,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). | MONDO: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia)."
+BMGC_DS18693,BMG_DS071737,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability and dysmorphic facial features including facial asymmetry, prominent forehead, short palpebral fissures, low nasal bridge, smooth and long philtrum, thin upper lip, low-set posteriorly rotated dysplastic ears exclusively affecting females. Additional reported manifestations include short stature, choanal atresia, scoliosis, congenital ocular, dental, cardiac and urogenital anomalies, along with hypotonia, seizures and structural brain abnormalities."
+BMGC_DS18694,BMG_DS071738,"SNOMEDCT_US: A rare genetic neurodegenerative disease with characteristics of episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycaemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. | MONDO: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy."
+BMGC_DS18695,BMG_DS071741,"SNOMEDCT_US: A rare genetic lethal multiple congenital anomalies syndrome with characteristics of hydranencephaly and diaphragmatic hernia along with macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. | MONDO: Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated."
+BMGC_DS18696,BMG_DS071744,"SNOMEDCT_US: A rare genetic neurometabolic disease with characteristics of global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. The usual presentation is metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis."
+BMGC_DS18697,BMG_DS071745,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder with characteristics of neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene."
+BMGC_DS18698,BMG_DS071746,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene."
+BMGC_DS18699,BMG_DS071747,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder with a variable clinical phenotype. Manifestations include infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder and liver involvement along with childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment and progressive tetraparesis. Serum lactate may be increased and brain imaging shows variable atrophy and white matter abnormalities. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene."
+BMGC_DS18700,BMG_DS071748,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth) and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly and hypoplastic toenails) a single palmar crease, lower limb hypertonia, joint hypermobility along with ocular and urogenital anomalies."
+BMGC_DS18701,BMG_DS071749,MONDO: Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene.
+BMGC_DS18702,BMG_DS071750,"SNOMEDCT_US: A rare genetic neuro-ophthalmological syndrome with characteristics of postnatal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. | MONDO: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal."
+BMGC_DS18703,BMG_DS071751,"SNOMEDCT_US: A rare genetic haematologic and intestinal disease characterised by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, haematuria and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcer. Mildly reduced levels of coagulation factor XI have been reported in addition."
+BMGC_DS18704,BMG_DS071758,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder characterised by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnoea, progressive muscle weakness, spasticity and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene."
+BMGC_DS18705,BMG_DS071759,"SNOMEDCT_US: A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene."
+BMGC_DS18706,BMG_DS071760,"SNOMEDCT_US: A rare mitochondrial disease with characteristics of early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene."
+BMGC_DS18707,BMG_DS071762,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech and dysarthria. Seizures and mildly dysmorphic features have been described in some patients."
+BMGC_DS18708,BMG_DS071763,"NCI: An autosomal recessive subtype of common variable immunodeficiency caused by mutation(s) in the IL21 gene, encoding interleukin-21."
+BMGC_DS18709,BMG_DS071764,"SNOMEDCT_US: A rare defect of tropomyosin characterized by decreased fetal movements and generalized muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation and variably severe respiratory involvement with hypoxemia. Muscle biopsy shows mild myopathic features."
+BMGC_DS18710,BMG_DS071770,
+BMGC_DS18711,BMG_DS071810,"SNOMEDCT_US: A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs."
+BMGC_DS18712,BMG_DS071812,"SNOMEDCT_US: A rare autosomal recessive complex spastic paraplegia with characteristics of mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy and cerebellar symptoms like ataxia, dysarthria and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. | MONDO: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene."
+BMGC_DS18713,BMG_DS071816,"SNOMEDCT_US: A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombocytopenia and myelodysplastic features. There are also non-hematologic manifestations such as developmental delay, cataracts, facial dysmorphism, short stature and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss and reduction of cerebral volume on brain imaging."
+BMGC_DS18714,BMG_DS071818,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the association of developmental delay, variable intellectual disability, skeletal dysplasia and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands, feet and pelvis, platyspondyly, cervical malformation and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism and broad nasal tip may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus and muscular hypotonia, along with multiple liver cysts."
+BMGC_DS18715,BMG_DS071819,"SNOMEDCT_US: A rare inborn error of metabolism with characteristics of increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid."
+BMGC_DS18716,BMG_DS071820,"SNOMEDCT_US: A rare genetic disease with characteristics of multiple café au lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy and symptomatic gastro-oesophageal reflux have also been described while malar rash is typically absent. | MONDO: A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent."
+BMGC_DS18717,BMG_DS071822,"SNOMEDCT_US: A rare ciliopathy with characteristics of oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangia, polydactyly) and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. | MONDO: Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features."
+BMGC_DS18718,BMG_DS071851,"SNOMEDCT_US: A rare pervasive developmental disorder with characteristics of microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy."
+BMGC_DS18719,BMG_DS071852,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability and characteristics of abnormal head shape/metopic ridging and facial dysmorphism which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds and short upturned nose. Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum."
+BMGC_DS18720,BMG_DS071853,"SNOMEDCT_US: A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens and fluctuating neutropenia."
+BMGC_DS18721,BMG_DS071854,"SNOMEDCT_US: A rare syndrome with combined immunodeficiency and characteristics of intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema along with mild facial dysmorphism."
+BMGC_DS18722,BMG_DS071855,"SNOMEDCT_US: A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections and failure to thrive. Laboratory studies reveal hypo or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume."
+BMGC_DS18723,BMG_DS071856,"SNOMEDCT_US: A rare genetic erythrokeratoderma disorder characterised by generalised cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy and dental enamel anomalies. Variable features include failure to thrive, developmental delay and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis."
+BMGC_DS18724,BMG_DS071857,"SNOMEDCT_US: A rare genetic neuromuscular disease with characteristics of length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles."
+BMGC_DS18725,BMG_DS071858,"SNOMEDCT_US: A rare subtype of autosomal recessive limb girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibres. | MONDO: Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers."
+BMGC_DS18726,BMG_DS071859,"SNOMEDCT_US: A rare genetic non-syndromic congenital anomaly of the great arteries characterised by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnoea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities."
+BMGC_DS18727,BMG_DS071860,"SNOMEDCT_US: A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. | MONDO: NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated."
+BMGC_DS18728,BMG_DS071861,"NCI: An autosomal dominant condition caused by mutation(s) in the DYRK1A gene, encoding dual specificity tyrosine-phosphorylation-regulated kinase 1A. It is characterized by moderate-severe intellectual disability and typical facial dysmorphisms. | MONDO: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13."
+BMGC_DS18729,BMG_DS071903,"SNOMEDCT_US: A rare genetic immune disease characterized by early onset of recurrent bacterial, viral and fungal infections, chronic inflammatory bowel disease, gastritis and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia."
+BMGC_DS18730,BMG_DS071905,"SNOMEDCT_US: A rare immune dysregulation disease with immunodeficiency with characteristics of infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal and viral infections with involvement of the skin, lower respiratory tract, gastrointestinal tract, eczema, allergies and inflammatory bowel disease. Epstein-Barr related smooth muscle neoplasms have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells."
+BMGC_DS18731,BMG_DS071906,"SNOMEDCT_US: A rare genetic syndromic intellectual disability disease with characteristics of severe intrauterine and post-natal growth delay, moderate to severe intellectual disability and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D and sensorineural hearing loss."
+BMGC_DS18732,BMG_DS071907,"NCI: A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas."
+BMGC_DS18733,BMG_DS071908,"SNOMEDCT_US: A rare mitochondrial disease with characteristics of neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia."
+BMGC_DS18734,BMG_DS071909,"SNOMEDCT_US: A rare genetic syndrome with a combination of autoinflammation, immunodeficiency and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present with recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections and purulent upper respiratory tract infections have also been reported. | MONDO: A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported."
+BMGC_DS18735,BMG_DS071912,"SNOMEDCT_US: A rare genetic cerebral small vessel disease characterised by subcortical ischaemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts and sometimes microbleeds. Extra-neurological manifestations are absent."
+BMGC_DS18736,BMG_DS071916,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intrauterine and postnatal growth restriction, global developmental delay, intellectual disability and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination and cerebral atrophy. | MONDO: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy."
+BMGC_DS18737,BMG_DS071917,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions."
+BMGC_DS18738,BMG_DS071934,
+BMGC_DS18739,BMG_DS071992,"SNOMEDCT_US: A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems. | MONDO: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy)."
+BMGC_DS18740,BMG_DS071994,"SNOMEDCT_US: A rare disorder with multisystemic involvement and glomerulopathy with characteristics of progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures)."
+BMGC_DS18741,BMG_DS071995,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, variable degrees of intellectual disability and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastrooesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy)."
+BMGC_DS18742,BMG_DS071996,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay, intellectual disability, early-onset seizures and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities or cortical atrophy."
+BMGC_DS18743,BMG_DS071997,"SNOMEDCT_US: A rare genetic disease characterised by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension and a tendency for hyperkalaemia."
+BMGC_DS18744,BMG_DS072003,"SNOMEDCT_US: A rare genetic disease characterised by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, haematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline) and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life."
+BMGC_DS18745,BMG_DS072004,"SNOMEDCT_US: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by mild global developmental delay, intellectual disability or learning difficulties, behavioural problems (like autistic, hyperactive, or aggressive behaviour), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others."
+BMGC_DS18746,BMG_DS072005,"SNOMEDCT_US: A rare genetic syndrome with limb malformations as a major feature with characteristics of preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray and syndactyly between digits I and II in the hands, large or duplicated hallux and syndactyly between toes I and II in the feet."
+BMGC_DS18747,BMG_DS072017,"SNOMEDCT_US: A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail or other skin or extracutaneous anomalies are absent. | MONDO: Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene."
+BMGC_DS18748,BMG_DS072018,"SNOMEDCT_US: A rare genetic spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder with characteristics of childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. | MONDO: Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported."
+BMGC_DS18749,BMG_DS072019,"SNOMEDCT_US: A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape."
+BMGC_DS18750,BMG_DS072021,"SNOMEDCT_US: A rare genetic neurological disorder with characteristics of hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients."
+BMGC_DS18751,BMG_DS072022,"SNOMEDCT_US: A rare genetic non-dystrophic congenital myopathy disorder characterized by neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size."
+BMGC_DS18752,BMG_DS072023,"SNOMEDCT_US: A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures and behavioral problems."
+BMGC_DS18753,BMG_DS072025,"SNOMEDCT_US: A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma and potential postpartum hemorrhage among others."
+BMGC_DS18754,BMG_DS072027,"SNOMEDCT_US: A rare genetic multiple congenital anomalies syndrome with characteristics of short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability and more variably; seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion and short neck. The malformation is due to a loss of function in the enzyme protein arginine N-methyltransferase 7 (encoded by PRMT7, 16q22.1) resulting in decreased levels of protein arginine methylation. Transmission is autosomal recessive."
+BMGC_DS18755,BMG_DS072028,"SNOMEDCT_US: A rare genetic complex spastic paraplegia disorder with characteristics of infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement."
+BMGC_DS18756,BMG_DS072029,"NCI: An autosomal recessive condition caused by mutation(s) in the GNB5 gene, encoding guanine nucleotide-binding protein subunit beta-5. It is characterized by severe intellectual disability, poor speech acquisition, and cardiac arrhythmia. Biallelic missense mutation in the GNB5 gene can cause language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, which is a less-severe disorder with overlapping features."
+BMGC_DS18757,BMG_DS072030,"SNOMEDCT_US: A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity and acquired microcephaly. Seizures, hearing loss, visual impairment and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities."
+BMGC_DS18758,BMG_DS072031,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears and short neck). Craniosynostosis, generalised hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described."
+BMGC_DS18759,BMG_DS072032,"SNOMEDCT_US: A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy and various central nervous system abnormalities. The majority of patients present with chronic hemolytic anemia, which may be severe in some cases. Myopathy is a common finding. Rhabdomyolysis has also been reported in a few patients. Intellectual deficit is frequent and other central nervous system manifestations may be also present. Caused by mutations in the PGK1 gene (Xq13.3) and around 20 different disease-causing variants have been identified so far in affected families. Inherited as an X-linked trait."
+BMGC_DS18760,BMG_DS072033,"SNOMEDCT_US: A rare complex hereditary spastic paraplegia characterised by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastro-oesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus and occasionally short stature among others."
+BMGC_DS18761,BMG_DS072034,"SNOMEDCT_US: A rare predominantly pure hereditary spastic paraplegia with characteristics of juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment and urinary symptoms. Cognition is normal."
+BMGC_DS18762,BMG_DS072035,"SNOMEDCT_US: A rare complex hereditary spastic paraplegia with characteristics of early onset of slowly progressive spastic para or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature and urinary incontinence. | MONDO: Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene."
+BMGC_DS18763,BMG_DS072036,"SNOMEDCT_US: A pure form of hereditary spastic paraplegia with characteristics of adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. | MONDO: Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies."
+BMGC_DS18764,BMG_DS072037,"SNOMEDCT_US: A rare pure or complex hereditary spastic paraplegia with characteristics of infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses may also be associated. | MONDO: Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated."
+BMGC_DS18765,BMG_DS072053,"SNOMEDCT_US: A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory. | MONDO: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene."
+BMGC_DS18766,BMG_DS072054,"SNOMEDCT_US: A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterised by early onset of generalised hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to also involve the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes as well as learning difficulties. | MONDO: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene."
+BMGC_DS18767,BMG_DS072055,"NCI: An autosomal dominant form of Charcot-Marie-Tooth disease caused by mutations in the VCP gene, encoding transitional endoplasmic reticulum ATPase. | MONDO: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene."
+BMGC_DS18768,BMG_DS072056,"SNOMEDCT_US: A rare hereditary motor and sensory neuropathy with characteristics of childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain. | MONDO: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene."
+BMGC_DS18769,BMG_DS072057,"SNOMEDCT_US: A rare axonal hereditary motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs and mild distal sensory loss leading to gait difficulties in most patients."
+BMGC_DS18770,BMG_DS072058,"SNOMEDCT_US: A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous haematoma and menorrhagia."
+BMGC_DS18771,BMG_DS072059,"SNOMEDCT_US: A rare axonal hereditary motor and sensory neuropathy characterised by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paraesthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. | MONDO: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
+BMGC_DS18772,BMG_DS072060,"SNOMEDCT_US: A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described."
+BMGC_DS18773,BMG_DS072061,"SNOMEDCT_US: A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness and impairment of respiratory muscles requiring assisted ventilation."
+BMGC_DS18774,BMG_DS072085,"SNOMEDCT_US: A rare mitochondrial disease with characteristics of a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV. | MONDO: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene."
+BMGC_DS18775,BMG_DS072087,"SNOMEDCT_US: A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported."
+BMGC_DS18776,BMG_DS072088,"SNOMEDCT_US: A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. | MONDO: An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13."
+BMGC_DS18777,BMG_DS072160,"HPO: Manifest deviation of the visual axes not controlled by fusion. [https://orcid.org/0000-0003-0986-4123] | MeSH: Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)"
+BMGC_DS18778,BMG_DS072165,
+BMGC_DS18779,BMG_DS072166,
+BMGC_DS18780,BMG_DS072167,"MONDO: Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease."
+BMGC_DS18781,BMG_DS072169,MONDO: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.
+BMGC_DS18782,BMG_DS072171,
+BMGC_DS18783,BMG_DS072172,"MONDO: Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia."
+BMGC_DS18784,BMG_DS072173,"ORPHANET: A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea, increased susceptibility to infections, and severe failure to thrive."
+BMGC_DS18785,BMG_DS072174,"SNOMEDCT_US: A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait. | MONDO: Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands."
+BMGC_DS18786,BMG_DS072176,MONDO: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.
+BMGC_DS18787,BMG_DS072177,"MONDO: The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia. | MeSH: The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma."
+BMGC_DS18788,BMG_DS072179,"MONDO: An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis. | MeSH: An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)"
+BMGC_DS18789,BMG_DS072183,"ORPHANET: A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis."
+BMGC_DS18790,BMG_DS072185,"HPO: Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. [] | MONDO: A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE)."
+BMGC_DS18791,BMG_DS072186,"ORPHANET: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms."
+BMGC_DS18792,BMG_DS072188,"ORPHANET: A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present."
+BMGC_DS18793,BMG_DS072190,"MONDO: PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2)."
+BMGC_DS18794,BMG_DS072191,
+BMGC_DS18795,BMG_DS072192,NCI: An electrocardiographic finding of ventricular tachycardia that is associated with syncope and/or cardiac arrest triggered by emotion or exercise in patients whose baseline ECG is normal. (ACC) | MONDO: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
+BMGC_DS18796,BMG_DS072194,"SNOMEDCT_US: Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. | MONDO: Classical Timothy syndrome with cutaneous syndactyly."
+BMGC_DS18797,BMG_DS072195,"ORPHANET: A rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. | MONDO: D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites."
+BMGC_DS18798,BMG_DS072196,"MONDO: Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant."
+BMGC_DS18799,BMG_DS072197,MONDO: A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
+BMGC_DS18800,BMG_DS072198,"MONDO: Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. | MeSH: Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene."
+BMGC_DS18801,BMG_DS072200,
+BMGC_DS18802,BMG_DS072202,MONDO: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.
+BMGC_DS18803,BMG_DS072203,"ORPHANET: A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. | MONDO: This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity."
+BMGC_DS18804,BMG_DS072204,"SNOMEDCT_US: A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity. | MONDO: Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies."
+BMGC_DS18805,BMG_DS072205,"NCI: Frontonasal dysplasia caused by mutations in the ALX3 gene, encoding homeobox protein aristaless-like 3. It is inherited in an autosomal recessive fashion. | MONDO: Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed."
+BMGC_DS18806,BMG_DS072206,"ORPHANET: A rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional. | MONDO: Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occurring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional."
+BMGC_DS18807,BMG_DS072208,NCI: Synpolydactyly caused by mutations in the HOXD13 gene. | MONDO: Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.
+BMGC_DS18808,BMG_DS072209,"NCI: An autosomal recessive immunodeficiency caused by mutation(s) in the ZAP70 gene, encoding tyrosine-protein kinase ZAP-70. It is characterized by absent CD8+ cells. | MONDO: Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction."
+BMGC_DS18809,BMG_DS072211,"ORPHANET: A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weigth gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome."
+BMGC_DS18810,BMG_DS072212,"SNOMEDCT_US: A rare neurologic disease with characteristics of multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia and visuospatial dysfunction. The disease shows a wide clinical variability between patients with many developing a relatively pure motor syndrome, and others displaying a combination of motor and cognitive deficits. | MONDO: Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction."
+BMGC_DS18811,BMG_DS072213,
+BMGC_DS18812,BMG_DS072215,"NCI: A genetically heterogenous afebrile seizure disorder of infancy, typically occurring between the third and eight month of life, that is characterized by brief partial seizures occurring in clusters over a day or several days. Psychomotor and neurologic development before and after seizures are normal. | MONDO: A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life."
+BMGC_DS18813,BMG_DS072216,
+BMGC_DS18814,BMG_DS072219,
+BMGC_DS18815,BMG_DS072222,"ORPHANET: A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. | MONDO: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."
+BMGC_DS18816,BMG_DS072223,
+BMGC_DS18817,BMG_DS072225,"ORPHANET: A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences. | MONDO: Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene."
+BMGC_DS18818,BMG_DS072226,"ORPHANET: Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. | MONDO: Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia."
+BMGC_DS18819,BMG_DS072230,"ORPHANET: A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common."
+BMGC_DS18820,BMG_DS072231,"SNOMEDCT_US: A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature with characteristics of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognized by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns. | MONDO: Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death."
+BMGC_DS18821,BMG_DS072248,"NCI: An aggressive, WHO grade 4 diffuse brain glioma usually affecting children, adolescents, or young adults. It is characterized by the absence of histone H3, IDH1, and IDH2 mutations. It includes the following subtypes, based on DNA methylation profiles: diffuse pediatric-type high grade glioma RTK1, diffuse pediatric-type high grade glioma RTK2, and diffuse pediatric-type high grade glioma MYCN. | MONDO: A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations."
+BMGC_DS18822,BMG_DS072249,"NCI: A high-grade cellular astrocytoma that arises in the cerebral hemisphere and occurs in early childhood. It is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes. It includes the following subtypes: infant-type hemispheric glioma, NTRK-altered, infant-type hemispheric glioma, ROS1-altered, infant-type hemispheric glioma, ALK-altered, and infant-type hemispheric glioma, MET-altered. | MONDO: A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood."
+BMGC_DS18823,BMG_DS072250,"NCI: An astrocytoma characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. Alterations in the following three pathways are responsible for the pathogenesis of this tumor: MAPK pathway, retinoblastoma tumor suppressor protein cell-cycle pathway, and telomere maintenance pathway. | MONDO: An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa."
+BMGC_DS18824,BMG_DS072257,NCI: Schwannomatosis caused by germline mutations in the SMARCB1 gene.
+BMGC_DS18825,BMG_DS072258,NCI: Schwannomatosis caused by germline mutations in the LZTR1 gene.
+BMGC_DS18826,BMG_DS072263,"NCI: Inflammation of the brain secondary to an immune response triggered by the body itself. | MONDO: Inflammation of the brain secondary to an immune response triggered by the body itself. | MeSH: Disorders caused by cellular or humoral immune responses primarily directed towards nervous system autoantigens. The immune response may be directed towards specific tissue components (e.g., myelin) and may be limited to the central nervous system (e.g., MULTIPLE SCLEROSIS) or the peripheral nervous system (e.g., GUILLAIN-BARRE SYNDROME)."
+BMGC_DS18827,BMG_DS072278,MONDO: Autosomal dominant form of limb-girdle muscular dystrophy.
+BMGC_DS18828,BMG_DS072459,"MONDO: Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia."
+BMGC_DS18829,BMG_DS072460,MONDO: Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
+BMGC_DS18830,BMG_DS072461,"MONDO: A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay."
+BMGC_DS18831,BMG_DS072462,
+BMGC_DS18832,BMG_DS072463,MONDO: A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
+BMGC_DS18833,BMG_DS072464,
+BMGC_DS18834,BMG_DS072465,
+BMGC_DS18835,BMG_DS072466,
+BMGC_DS18836,BMG_DS072467,
+BMGC_DS18837,BMG_DS072468,"MONDO: An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia."
+BMGC_DS18838,BMG_DS072469,
+BMGC_DS18839,BMG_DS072470,"MONDO: An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy."
+BMGC_DS18840,BMG_DS072471,"MONDO: An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation."
+BMGC_DS18841,BMG_DS072472,"MONDO: A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality."
+BMGC_DS18842,BMG_DS072473,
+BMGC_DS18843,BMG_DS072474,"MONDO: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."
+BMGC_DS18844,BMG_DS072475,"MONDO: A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported."
+BMGC_DS18845,BMG_DS072476,MONDO: Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.
+BMGC_DS18846,BMG_DS072477,
+BMGC_DS18847,BMG_DS072478,MONDO: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.
+BMGC_DS18848,BMG_DS072479,
+BMGC_DS18849,BMG_DS072480,
+BMGC_DS18850,BMG_DS072481,
+BMGC_DS18851,BMG_DS072482,
+BMGC_DS18852,BMG_DS072483,"MONDO: An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects."
+BMGC_DS18853,BMG_DS072484,"MONDO: An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported."
+BMGC_DS18854,BMG_DS072485,MONDO: A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.
+BMGC_DS18855,BMG_DS072486,
+BMGC_DS18856,BMG_DS072487,
+BMGC_DS18857,BMG_DS072488,
+BMGC_DS18858,BMG_DS072489,
+BMGC_DS18859,BMG_DS072490,
+BMGC_DS18860,BMG_DS072491,
+BMGC_DS18861,BMG_DS072492,
+BMGC_DS18862,BMG_DS072493,
+BMGC_DS18863,BMG_DS072494,
+BMGC_DS18864,BMG_DS072495,
+BMGC_DS18865,BMG_DS072496,
+BMGC_DS18866,BMG_DS072497,
+BMGC_DS18867,BMG_DS072498,
+BMGC_DS18868,BMG_DS072499,
+BMGC_DS18869,BMG_DS072500,
+BMGC_DS18870,BMG_DS072501,MONDO: A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.
+BMGC_DS18871,BMG_DS072502,
+BMGC_DS18872,BMG_DS072503,
+BMGC_DS18873,BMG_DS072504,"MONDO: An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling."
+BMGC_DS18874,BMG_DS072505,
+BMGC_DS18875,BMG_DS072506,
+BMGC_DS18876,BMG_DS072507,
+BMGC_DS18877,BMG_DS072508,
+BMGC_DS18878,BMG_DS072509,
+BMGC_DS18879,BMG_DS072510,
+BMGC_DS18880,BMG_DS072511,
+BMGC_DS18881,BMG_DS072512,
+BMGC_DS18882,BMG_DS072513,
+BMGC_DS18883,BMG_DS072514,"MONDO: An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair."
+BMGC_DS18884,BMG_DS072515,
+BMGC_DS18885,BMG_DS072516,
+BMGC_DS18886,BMG_DS072517,
+BMGC_DS18887,BMG_DS072518,
+BMGC_DS18888,BMG_DS072519,
+BMGC_DS18889,BMG_DS072520,
+BMGC_DS18890,BMG_DS072521,
+BMGC_DS18891,BMG_DS072522,
+BMGC_DS18892,BMG_DS072523,
+BMGC_DS18893,BMG_DS072524,
+BMGC_DS18894,BMG_DS072525,
+BMGC_DS18895,BMG_DS072526,
+BMGC_DS18896,BMG_DS072527,
+BMGC_DS18897,BMG_DS072528,
+BMGC_DS18898,BMG_DS072529,"MONDO: An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported."
+BMGC_DS18899,BMG_DS072530,
+BMGC_DS18900,BMG_DS072531,
+BMGC_DS18901,BMG_DS072532,
+BMGC_DS18902,BMG_DS072533,
+BMGC_DS18903,BMG_DS072534,
+BMGC_DS18904,BMG_DS072535,
+BMGC_DS18905,BMG_DS072536,
+BMGC_DS18906,BMG_DS072537,
+BMGC_DS18907,BMG_DS072538,
+BMGC_DS18908,BMG_DS072539,
+BMGC_DS18909,BMG_DS072540,
+BMGC_DS18910,BMG_DS072541,
+BMGC_DS18911,BMG_DS072542,
+BMGC_DS18912,BMG_DS072543,
+BMGC_DS18913,BMG_DS072544,
+BMGC_DS18914,BMG_DS072545,
+BMGC_DS18915,BMG_DS072546,
+BMGC_DS18916,BMG_DS072547,
+BMGC_DS18917,BMG_DS072548,
+BMGC_DS18918,BMG_DS072549,
+BMGC_DS18919,BMG_DS072550,
+BMGC_DS18920,BMG_DS072551,
+BMGC_DS18921,BMG_DS072552,
+BMGC_DS18922,BMG_DS072553,"MONDO: An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment."
+BMGC_DS18923,BMG_DS072554,
+BMGC_DS18924,BMG_DS072555,
+BMGC_DS18925,BMG_DS072556,
+BMGC_DS18926,BMG_DS072557,
+BMGC_DS18927,BMG_DS072558,
+BMGC_DS18928,BMG_DS072559,"MONDO: An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy."
+BMGC_DS18929,BMG_DS072560,
+BMGC_DS18930,BMG_DS072561,
+BMGC_DS18931,BMG_DS072562,
+BMGC_DS18932,BMG_DS072563,
+BMGC_DS18933,BMG_DS072564,
+BMGC_DS18934,BMG_DS072565,
+BMGC_DS18935,BMG_DS072566,
+BMGC_DS18936,BMG_DS072567,
+BMGC_DS18937,BMG_DS072568,
+BMGC_DS18938,BMG_DS072569,
+BMGC_DS18939,BMG_DS072570,
+BMGC_DS18940,BMG_DS072571,
+BMGC_DS18941,BMG_DS072572,
+BMGC_DS18942,BMG_DS072573,
+BMGC_DS18943,BMG_DS072574,
+BMGC_DS18944,BMG_DS072575,
+BMGC_DS18945,BMG_DS072576,
+BMGC_DS18946,BMG_DS072577,MONDO: A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.
+BMGC_DS18947,BMG_DS072578,
+BMGC_DS18948,BMG_DS072579,
+BMGC_DS18949,BMG_DS072580,
+BMGC_DS18950,BMG_DS072581,
+BMGC_DS18951,BMG_DS072582,
+BMGC_DS18952,BMG_DS072583,
+BMGC_DS18953,BMG_DS072584,
+BMGC_DS18954,BMG_DS072585,
+BMGC_DS18955,BMG_DS072586,
+BMGC_DS18956,BMG_DS072587,MONDO: Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.
+BMGC_DS18957,BMG_DS072588,
+BMGC_DS18958,BMG_DS072589,
+BMGC_DS18959,BMG_DS072590,
+BMGC_DS18960,BMG_DS072591,
+BMGC_DS18961,BMG_DS072592,
+BMGC_DS18962,BMG_DS072593,
+BMGC_DS18963,BMG_DS072594,MONDO: Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene.
+BMGC_DS18964,BMG_DS072595,
+BMGC_DS18965,BMG_DS072596,
+BMGC_DS18966,BMG_DS072598,
+BMGC_DS18967,BMG_DS072599,
+BMGC_DS18968,BMG_DS072600,
+BMGC_DS18969,BMG_DS072601,
+BMGC_DS18970,BMG_DS072602,
+BMGC_DS18971,BMG_DS072603,"MONDO: Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene."
+BMGC_DS18972,BMG_DS072604,
+BMGC_DS18973,BMG_DS072605,
+BMGC_DS18974,BMG_DS072606,
+BMGC_DS18975,BMG_DS072607,
+BMGC_DS18976,BMG_DS072608,
+BMGC_DS18977,BMG_DS072619,
+BMGC_DS18978,BMG_DS072625,"MONDO: An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive."
+BMGC_DS18979,BMG_DS072626,
+BMGC_DS18980,BMG_DS072629,"ORPHANET: A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature."
+BMGC_DS18981,BMG_DS072630,"ORPHANET: A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40&amp;nbsp;IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations. | MONDO: Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
+BMGC_DS18982,BMG_DS072631,"ORPHANET: A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations. | MONDO: Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
+BMGC_DS18983,BMG_DS072632,"ORPHANET: A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity &lt;1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations. | MONDO: Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction."
+BMGC_DS18984,BMG_DS072633,"ORPHANET: A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis. | MONDO: A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus."
+BMGC_DS18985,BMG_DS072634,"ORPHANET: A rare T-B+ severe combined immunodeficiency characterized by a T cell-negative, B cell-positive, natural killer (NK) cell-positive immune phenotype. Patients present in infancy or early childhood with recurrent infections. Clinical manifestations may vary in severity depending on the underlying molecular defect, resulting in early death without bone marrow transplantation in some patients."
+BMGC_DS18986,BMG_DS072635,"ORPHANET: A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia."
+BMGC_DS18987,BMG_DS072638,"ORPHANET: Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent. | MONDO: Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent."
+BMGC_DS18988,BMG_DS072642,"ORPHANET: Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. | MONDO: Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"
+BMGC_DS18989,BMG_DS072643,"NCI: The presence of ovarian and testicular tissue in the an individual with 46,XX karyotype. The anatomical expression of this condition is variable. | MONDO: 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype."
+BMGC_DS18990,BMG_DS072644,"ORPHANET: A rare genetic, peroxisomal disease characterized by childhood onset slowly progressive ataxia and axonal motor neuropathy due to PEX 10 deficieny. Marked cerebellar atrophy and pyramidal signs are evident. Patients may present mild mental retardation, intentional tremor, decreased vibration sense and diabetes mellitus. Additional features may include nystagmus, mydriasis, hyperreflexia and involuntary head movement."
+BMGC_DS18991,BMG_DS072645,
+BMGC_DS18992,BMG_DS072646,"ORPHANET: A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. | MONDO: Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits."
+BMGC_DS18993,BMG_DS072651,
+BMGC_DS18994,BMG_DS072652,
+BMGC_DS18995,BMG_DS072683,
+BMGC_DS18996,BMG_DS072684,
+BMGC_DS18997,BMG_DS072685,
+BMGC_DS18998,BMG_DS072686,
+BMGC_DS18999,BMG_DS072692,"ORPHANET: A form of generalized peeling skin syndrome (PSS) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy."
+BMGC_DS19000,BMG_DS072722,
+BMGC_DS19001,BMG_DS072723,
+BMGC_DS19002,BMG_DS072725,
+BMGC_DS19003,BMG_DS072726,ORPHANET: The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term). | MONDO: The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.
+BMGC_DS19004,BMG_DS072729,
+BMGC_DS19005,BMG_DS072730,
+BMGC_DS19006,BMG_DS072731,MONDO: A microphthalmia that is part of a larger syndrome.
+BMGC_DS19007,BMG_DS072735,
+BMGC_DS19008,BMG_DS072736,MONDO: Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.
+BMGC_DS19009,BMG_DS072737,"MONDO: A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals"
+BMGC_DS19010,BMG_DS072740,MONDO: An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.
+BMGC_DS19011,BMG_DS072741,"ORPHANET: A rare high-grade endometrial carcinoma characterized by diffuse, marked nuclear pleomorphism, typically exhibiting complex papillary and/or glandular growth patterns and showing abnormal p53 and diffuse p16 immunohistochemistry. The tumor typically arises in atrophic endometrium or in an endometrial polyp. Most patients present with postmenopausal bleeding. Extrauterine metastasis is present in 40-50% of surgically staged cases, most frequently involving lymph nodes or peritoneal sites and omentum. Patients with extrauterine spread have poor outcomes, while endometrium-limited carcinoma has a better prognosis. | MONDO: A papillary carcinoma that involves the body of uterus."
+BMGC_DS19012,BMG_DS072744,
+BMGC_DS19013,BMG_DS072746,
+BMGC_DS19014,BMG_DS072747,
+BMGC_DS19015,BMG_DS072748,"ORPHANET: A rare vascular anomaly characterized by congenital, progressive, circumscribed venous malformations (phlebectasias) primarily involving the upper and/or lower extremities, either on one side or bilaterally. The malformed vessels are visible beneath the skin. Veins of all sizes are affected. Pain, swelling, muscle wasting, and ulceration may occur."
+BMGC_DS19016,BMG_DS072749,"ORPHANET: Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline. | MONDO: Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline."
+BMGC_DS19017,BMG_DS072750,"ORPHANET: Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)."
+BMGC_DS19018,BMG_DS072752,MONDO: A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system.
+BMGC_DS19019,BMG_DS072754,"ORPHANET: A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies. | MONDO: Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit."
+BMGC_DS19020,BMG_DS072755,"ORPHANET: Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis. | MONDO: Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis."
+BMGC_DS19021,BMG_DS072756,"ORPHANET: Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. | MONDO: Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis."
+BMGC_DS19022,BMG_DS072761,"ORPHANET: A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described."
+BMGC_DS19023,BMG_DS072762,"ORPHANET: A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails."
+BMGC_DS19024,BMG_DS072764,"ORPHANET: A rare, genetic pituitary hormone deficiency characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). This disorder may be associated with a normal (normosmic) or impaired sense of smell (Kallmann syndrome). | MONDO: A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome."
+BMGC_DS19025,BMG_DS072765,"ORPHANET: An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by an initial presentation of an isolated speech and language disorder (apraxia of speech, agrammatism, and phonemic errors) years before developing other motor features of PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the temporal cortex and superior frontal gyrus. | MONDO: PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP."
+BMGC_DS19026,BMG_DS072766,"ORPHANET: An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, characterized by progressive freezing of gait, speech and writing early in the disease course. Later, axial rigidity, and facial immobility can occur, and supranuclear downgaze paresis may emerge after a decade. Neuropathological characteristics include tau pathology and neuronal loss in specific brain areas, especially in the globus pallidus, subthalamic nucleus, and substantia nigra. The tau pathology is less widespread compared to the other PSP sub-types. | MONDO: PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease."
+BMGC_DS19027,BMG_DS072768,"ORPHANET: A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions."
+BMGC_DS19028,BMG_DS072771,
+BMGC_DS19029,BMG_DS072772,
+BMGC_DS19030,BMG_DS072774,"ORPHANET: A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. This subtype is due to a mutation in the &lt;i&gt;APP&lt;/i&gt; gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. | MONDO: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline."
+BMGC_DS19031,BMG_DS072775,
+BMGC_DS19032,BMG_DS072776,"ORPHANET: A rare, endocrine disease characterized by early onset of polycythemia, and later occuring multiple parangliomas. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety, and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism."
+BMGC_DS19033,BMG_DS072781,"ORPHANET: A form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females, and normal genitalia in males in association with glucocorticoid insufficiency with absence of salt-wasting, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. Females have a normal uterus and various degrees of abnormal vaginal development. | MONDO: The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting."
+BMGC_DS19034,BMG_DS072782,"ORPHANET: A form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency characterized by abnormal genital development with variable levels of virilization in females and normal genitalia in males in association with glucocorticoid insufficiency with salt-wasting due to aldosterone deficiency, accelerated growth velocity and bone maturation, premature adrenarche and precocious puberty leading to reduced adult height. | MONDO: The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency."
+BMGC_DS19035,BMG_DS072784,"ORPHANET: A rare hypereosinophilic syndrome characterized by hypereosinophilia produced by clonal eosinophils derived from neoplastic stem cells in the absence of any secondary cause of eosinophilia and persisting for at least six months. The condition is associated with signs of organ infiltration, dysfunction, and damage. Clinical manifestations are highly variable, depending on the organ systems involved, and include dermatologic, pulmonary, cardiac, gastrointestinal, and cerebral manifestations, among others."
+BMGC_DS19036,BMG_DS072786,MONDO: Autosomal recessive form of spastic ataxia.
+BMGC_DS19037,BMG_DS072788,
+BMGC_DS19038,BMG_DS072789,"ORPHANET: A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities."
+BMGC_DS19039,BMG_DS072790,"ORPHANET: An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. | MONDO: Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms."
+BMGC_DS19040,BMG_DS072791,"ORPHANET: A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age."
+BMGC_DS19041,BMG_DS072792,
+BMGC_DS19042,BMG_DS072793,"ORPHANET: An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. | MONDO: Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi."
+BMGC_DS19043,BMG_DS072794,
+BMGC_DS19044,BMG_DS072795,"ORPHANET: Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. | MONDO: Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development."
+BMGC_DS19045,BMG_DS072796,"ORPHANET: Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. | MONDO: Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course."
+BMGC_DS19046,BMG_DS072797,"ORPHANET: Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. | MONDO: Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy."
+BMGC_DS19047,BMG_DS072806,"NCI: An autosomal dominant condition caused by mutation(s) in the PITX1 gene, encoding pituitary homeobox 1. It is characterized by clubfoot, and may have associated long bone deformity and/or polydactyly."
+BMGC_DS19048,BMG_DS072807,
+BMGC_DS19049,BMG_DS072808,"ORPHANET: A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase. | MONDO: Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase."
+BMGC_DS19050,BMG_DS072810,"ORPHANET: A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. | MONDO: Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms."
+BMGC_DS19051,BMG_DS072812,ORPHANET: Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering. | MONDO: Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.
+BMGC_DS19052,BMG_DS072818,
+BMGC_DS19053,BMG_DS072819,
+BMGC_DS19054,BMG_DS072820,
+BMGC_DS19055,BMG_DS072821,
+BMGC_DS19056,BMG_DS072825,
+BMGC_DS19057,BMG_DS072828,"SNOMEDCT_US: A rare hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus."
+BMGC_DS19058,BMG_DS072829,
+BMGC_DS19059,BMG_DS072831,"ORPHANET: A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported. | MONDO: An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome."
+BMGC_DS19060,BMG_DS072832,"ORPHANET: Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behavior and strength. Affected cases retained hot and cold perception."
+BMGC_DS19061,BMG_DS072834,"ORPHANET: A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. | MONDO: 19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features."
+BMGC_DS19062,BMG_DS072841,
+BMGC_DS19063,BMG_DS072843,"ORPHANET: A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. | MONDO: Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders."
+BMGC_DS19064,BMG_DS072844,"ORPHANET: A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia. | MONDO: Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies."
+BMGC_DS19065,BMG_DS072847,"ORPHANET: A rare autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma. | MONDO: Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma."
+BMGC_DS19066,BMG_DS072848,"ORPHANET: A clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age. | MONDO: HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age."
+BMGC_DS19067,BMG_DS072849,"ORPHANET: HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. | MONDO: HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life."
+BMGC_DS19068,BMG_DS072850,
+BMGC_DS19069,BMG_DS072851,
+BMGC_DS19070,BMG_DS072857,"ORPHANET: A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed."
+BMGC_DS19071,BMG_DS072860,"ORPHANET: A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures."
+BMGC_DS19072,BMG_DS072861,"ORPHANET: A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. | MONDO: A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood."
+BMGC_DS19073,BMG_DS072862,"ORPHANET: A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps."
+BMGC_DS19074,BMG_DS072863,"ORPHANET: A rare, genetic primary immunodeficiency characterized by recurrent respiratory and skin viral infections (Epstein-Barr virus, herpes simplex virus, human papillomavirus), deficient spontaneous cytotoxicity of natural killer cells, but preserved antibody-dependent cellular cytotoxicity. No other abnormalities are present on immunologic work-up."
+BMGC_DS19075,BMG_DS072872,"ORPHANET: A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate."
+BMGC_DS19076,BMG_DS072873,"ORPHANET: A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities. | MONDO: A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities."
+BMGC_DS19077,BMG_DS072876,"ORPHANET: A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine."
+BMGC_DS19078,BMG_DS072881,"ORPHANET: A rare, genetic, primary combined T and B cell immunodeficiency characterized by recurrent, severe viral and bacterial infections. Immunologic findings include decreased immunoglobulin levels, decreased numbers of B and NK cells, reduced relative CD19+ B cells in peripheral blood, impaired memory responses to viral infections and defective antigen-specific T-cell proliferation. | MONDO: A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)."
+BMGC_DS19079,BMG_DS072882,
+BMGC_DS19080,BMG_DS072888,"ORPHANET: A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy."
+BMGC_DS19081,BMG_DS072889,"ORPHANET: A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias."
+BMGC_DS19082,BMG_DS072890,"SNOMEDCT_US: A partial deletion of the short arm of chromosome 16 characterised by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioural profile includes impulsivity, compulsivity, stubbornness, manipulative behaviours, temper tantrums, and aggressive behaviours. | MONDO: A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors."
+BMGC_DS19083,BMG_DS072893,"ORPHANET: A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and &lt;i&gt;pectus excavatum&lt;/i&gt;, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia."
+BMGC_DS19084,BMG_DS072896,
+BMGC_DS19085,BMG_DS072899,
+BMGC_DS19086,BMG_DS072901,
+BMGC_DS19087,BMG_DS072905,"ORPHANET: A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly."
+BMGC_DS19088,BMG_DS072909,"ORPHANET: A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed."
+BMGC_DS19089,BMG_DS072912,"ORPHANET: A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms."
+BMGC_DS19090,BMG_DS072913,"ORPHANET: A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor. | MONDO: A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor."
+BMGC_DS19091,BMG_DS072914,"ORPHANET: A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections. | MONDO: A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections."
+BMGC_DS19092,BMG_DS072915,"ORPHANET: A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress. | MONDO: A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress."
+BMGC_DS19093,BMG_DS072919,"ORPHANET: A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association."
+BMGC_DS19094,BMG_DS072921,"ORPHANET: A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy. | MONDO: A rare primary lymphedema characterized by bilateral, painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet, dysplastic and upslanting toenails due to edema of the nailbed, and subtle dysmorphic facial features (such as high forehead, hypertelorism, depressed nasal bridge, mild bilateral ear dysplasia, and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease, as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy."
+BMGC_DS19095,BMG_DS072922,"ORPHANET: A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients. | MONDO: A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients."
+BMGC_DS19096,BMG_DS072923,"ORPHANET: A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis."
+BMGC_DS19097,BMG_DS072924,
+BMGC_DS19098,BMG_DS072925,"ORPHANET: Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms). | MONDO: Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency."
+BMGC_DS19099,BMG_DS072927,"ORPHANET: A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis."
+BMGC_DS19100,BMG_DS072929,
+BMGC_DS19101,BMG_DS072930,"ORPHANET: A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated. | MONDO: A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated."
+BMGC_DS19102,BMG_DS072931,"ORPHANET: A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflamation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum. | MONDO: A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum."
+BMGC_DS19103,BMG_DS072933,"ORPHANET: A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). | MONDO: A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD)."
+BMGC_DS19104,BMG_DS072936,
+BMGC_DS19105,BMG_DS072938,"ORPHANET: A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low. | MONDO: A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low."
+BMGC_DS19106,BMG_DS072940,MONDO: Autosomal dominant form of intermediate Charcot-Marie-Tooth disease.
+BMGC_DS19107,BMG_DS072942,"ORPHANET: A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic."
+BMGC_DS19108,BMG_DS072943,MONDO: Autosomal recessive form of non-syndromic intellectual disability.
+BMGC_DS19109,BMG_DS072944,"ORPHANET: Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. | MONDO: A disease characterized by hearing loss that is not part of a larger syndrome."
+BMGC_DS19110,BMG_DS072945,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others."
+BMGC_DS19111,BMG_DS072946,"ORPHANET: A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders. | MONDO: A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders."
+BMGC_DS19112,BMG_DS072948,MONDO: X-linked form of nonsyndromic deafness.
+BMGC_DS19113,BMG_DS072949,"ORPHANET: A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. | MONDO: A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome."
+BMGC_DS19114,BMG_DS072952,"ORPHANET: A mild to moderate form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by blood phenylalanine concentrations of 600-1,200 micromol/L and manifests with reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day. | MONDO: Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity."
+BMGC_DS19115,BMG_DS072954,
+BMGC_DS19116,BMG_DS072955,"ORPHANET: A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders. | MONDO: Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA."
+BMGC_DS19117,BMG_DS072957,"ORPHANET: A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are, on the contrary, very rarely described."
+BMGC_DS19118,BMG_DS072958,"ORPHANET: A rare genetic, multiple congenital anomalies syndrome characterized by several of the typical clinical features of Crisponi Syndrome/cold-induced sweating syndrome such as hyperthermia in the first months of life, dysmorphism, feeding and respiratory difficulties, contraction of oropharyngeal muscles, joint contractures with camptodactyly and early onset retinitis pigmentosa, but lacking cold-induced sweating. In contrast to Crisponi and cold-induced sweating syndromes, intellectual disability is reported."
+BMGC_DS19119,BMG_DS072965,"ORPHANET: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). | MONDO: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)."
+BMGC_DS19120,BMG_DS072966,"ORPHANET: A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). | MONDO: Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum)."
+BMGC_DS19121,BMG_DS072968,
+BMGC_DS19122,BMG_DS072977,"ORPHANET: A rare genetic endocrine disease characterized by increased affinity of a mutated transthyretin for T4. Total and free T4 may be normal or elevated, but affected individuals are clinically euthyroid."
+BMGC_DS19123,BMG_DS072978,
+BMGC_DS19124,BMG_DS072979,"ORPHANET: A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition."
+BMGC_DS19125,BMG_DS072981,"ORPHANET: A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported."
+BMGC_DS19126,BMG_DS072982,"ORPHANET: A rare, hereditary amyloidosis with primary renal involvement characterized by amyloid deposition in the kidney glomeruli and medulla, gastrointestinal tract, liver, spleen and slow disease progression. Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction."
+BMGC_DS19127,BMG_DS072985,"ORPHANET: A rare genetic neurological disorder characterized by hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired."
+BMGC_DS19128,BMG_DS072991,"ORPHANET: A rare non-severe combined immunodeficiency characterized by TNF-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa."
+BMGC_DS19129,BMG_DS072993,
+BMGC_DS19130,BMG_DS072997,MONDO: Atrioventricular septal defect with communication at the atrial level only.
+BMGC_DS19131,BMG_DS073004,"ORPHANET: A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy."
+BMGC_DS19132,BMG_DS073005,
+BMGC_DS19133,BMG_DS073006,
+BMGC_DS19134,BMG_DS073007,
+BMGC_DS19135,BMG_DS073008,
+BMGC_DS19136,BMG_DS073009,
+BMGC_DS19137,BMG_DS073010,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay / intellectual disability are variably reported. | MONDO: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities."
+BMGC_DS19138,BMG_DS073011,"ORPHANET: A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation."
+BMGC_DS19139,BMG_DS073012,
+BMGC_DS19140,BMG_DS073013,
+BMGC_DS19141,BMG_DS073015,"ORPHANET: A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia."
+BMGC_DS19142,BMG_DS073016,
+BMGC_DS19143,BMG_DS073019,
+BMGC_DS19144,BMG_DS073020,
+BMGC_DS19145,BMG_DS073021,"ORPHANET: A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. | MONDO: A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease."
+BMGC_DS19146,BMG_DS073024,"ORPHANET: A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association."
+BMGC_DS19147,BMG_DS073025,
+BMGC_DS19148,BMG_DS073026,"ORPHANET: A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly. | MONDO: A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly."
+BMGC_DS19149,BMG_DS073027,
+BMGC_DS19150,BMG_DS073036,
+BMGC_DS19151,BMG_DS073047,
+BMGC_DS19152,BMG_DS073061,
+BMGC_DS19153,BMG_DS073062,
+BMGC_DS19154,BMG_DS073063,
+BMGC_DS19155,BMG_DS073064,
+BMGC_DS19156,BMG_DS073065,
+BMGC_DS19157,BMG_DS073066,"ORPHANET: A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition."
+BMGC_DS19158,BMG_DS073068,"ORPHANET: A rare genetic neonatal diabetes mellitus syndrome characterized by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. Is it a less severe form of DEND syndrome. | MONDO: Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy."
+BMGC_DS19159,BMG_DS073072,ORPHANET: Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates. | MONDO: Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.
+BMGC_DS19160,BMG_DS073073,ORPHANET: Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression. | MONDO: Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.
+BMGC_DS19161,BMG_DS073074,ORPHANET: Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement. | MONDO: Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
+BMGC_DS19162,BMG_DS073080,MONDO: Autosomal dominant form of non-syndromic intellectual disability.
+BMGC_DS19163,BMG_DS073082,"ORPHANET: A rare bleeding disorder in association with carrier mutations in the &lt;i&gt;F8&lt;/i&gt; gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII &amp;#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers. | MONDO: A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII."
+BMGC_DS19164,BMG_DS073083,"ORPHANET: A rare bleeding disorder in association with carrier mutations in the &lt;i&gt;F9&lt;/i&gt; gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX &amp;#8805;40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers. | MONDO: A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX."
+BMGC_DS19165,BMG_DS073084,
+BMGC_DS19166,BMG_DS073085,
+BMGC_DS19167,BMG_DS073086,
+BMGC_DS19168,BMG_DS073087,
+BMGC_DS19169,BMG_DS073088,MONDO: Precocious puberty caused by sex hormones.
+BMGC_DS19170,BMG_DS073093,"ORPHANET: A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts."
+BMGC_DS19171,BMG_DS073094,MONDO: A intellectual disability that is part of a larger syndrome.
+BMGC_DS19172,BMG_DS073096,
+BMGC_DS19173,BMG_DS073097,MONDO: An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.
+BMGC_DS19174,BMG_DS073111,
+BMGC_DS19175,BMG_DS073112,
+BMGC_DS19176,BMG_DS073113,
+BMGC_DS19177,BMG_DS073120,
+BMGC_DS19178,BMG_DS073121,
+BMGC_DS19179,BMG_DS073122,
+BMGC_DS19180,BMG_DS073125,"ORPHANET: A rare renal disease characterized by thrombotic microangiopathy developing &lt;i&gt;de novo&lt;/i&gt; in kidney transplant recipients with no evidence of occurrence of the disease prior to transplantation. Precipitating factors include antibody-mediated rejection, immunosuppressive medication, viral infections, and genetic abnormalities in the complement cascade, among others. The condition most commonly occurs within the first 3-6 months post-transplantation. Clinical presentation is highly variable and ranges from a limited form confined to the kidney with relatively good prognosis to a systemic variant consisting of the classic triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury."
+BMGC_DS19181,BMG_DS073131,
+BMGC_DS19182,BMG_DS073132,
+BMGC_DS19183,BMG_DS073133,
+BMGC_DS19184,BMG_DS073138,"ORPHANET: Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients."
+BMGC_DS19185,BMG_DS073143,
+BMGC_DS19186,BMG_DS073144,
+BMGC_DS19187,BMG_DS073147,"ORPHANET: A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported."
+BMGC_DS19188,BMG_DS073149,"ORPHANET: A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported."
+BMGC_DS19189,BMG_DS073152,
+BMGC_DS19190,BMG_DS073156,
+BMGC_DS19191,BMG_DS073158,
+BMGC_DS19192,BMG_DS073165,
+BMGC_DS19193,BMG_DS073166,
+BMGC_DS19194,BMG_DS073168,
+BMGC_DS19195,BMG_DS073183,
+BMGC_DS19196,BMG_DS073184,
+BMGC_DS19197,BMG_DS073185,
+BMGC_DS19198,BMG_DS073186,
+BMGC_DS19199,BMG_DS073196,
+BMGC_DS19200,BMG_DS073197,
+BMGC_DS19201,BMG_DS073198,
+BMGC_DS19202,BMG_DS073201,
+BMGC_DS19203,BMG_DS073205,
+BMGC_DS19204,BMG_DS073210,
+BMGC_DS19205,BMG_DS073214,
+BMGC_DS19206,BMG_DS073216,
+BMGC_DS19207,BMG_DS073217,
+BMGC_DS19208,BMG_DS073218,
+BMGC_DS19209,BMG_DS073227,ORPHANET: A rare form of glycerol kinase deficiency (GKD) characterized by pseudohypertriglyceridemia in otherwise healthy adults and diagnosed fortuitously. | MONDO: Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults.
+BMGC_DS19210,BMG_DS073231,"ORPHANET: Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. | MONDO: Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness."
+BMGC_DS19211,BMG_DS073248,MONDO: An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.
+BMGC_DS19212,BMG_DS073250,
+BMGC_DS19213,BMG_DS073253,
+BMGC_DS19214,BMG_DS073258,"ORPHANET: A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment."
+BMGC_DS19215,BMG_DS073259,"ORPHANET: A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis)."
+BMGC_DS19216,BMG_DS073265,"ORPHANET: A rare genetic disease characterized by a variable clinical phenotype which includes similar features but is typically less severe than in affected males. Patients may present with mild to borderline intellectual disability, anxiety, social phobia, selective mutism, attention deficit hyperactivity disorder, language deficit, neurologic signs and symptoms (such as seizures, hypotonia, and clonus), ophthalmologic anomalies (strabismus, refractive errors), and facial dysmorphism (including long face, prominent forehead, large, prominent ears, and mandibular prognathism)."
+BMGC_DS19217,BMG_DS073267,"ORPHANET: A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis."
+BMGC_DS19218,BMG_DS073268,"ORPHANET: A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described."
+BMGC_DS19219,BMG_DS073269,"ORPHANET: A rare, genetic, syndromic intellectual disability characterized by mild to severe intellectual disability associated with variable features, including hypotonia, dyskinesia, spasticity, wide-based gait, microcephaly, epilepsy and behavioral problems. MRI imaging may show a corpus callosum hypoplasia or ventricular enlargement. Other variable features, such as joint hyperlaxity, skin pigmentary abnormalities, and visual impairment, have also been reported."
+BMGC_DS19220,BMG_DS073270,"ORPHANET: X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted."
+BMGC_DS19221,BMG_DS073271,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum."
+BMGC_DS19222,BMG_DS073274,
+BMGC_DS19223,BMG_DS073278,
+BMGC_DS19224,BMG_DS073280,"ORPHANET: A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis."
+BMGC_DS19225,BMG_DS073281,"ORPHANET: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. | MONDO: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding."
+BMGC_DS19226,BMG_DS073282,"SNOMEDCT_US: A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behaviour during sleep have also been reported."
+BMGC_DS19227,BMG_DS073283,"ORPHANET: A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency."
+BMGC_DS19228,BMG_DS073284,"ORPHANET: A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported."
+BMGC_DS19229,BMG_DS073285,"ORPHANET: A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood."
+BMGC_DS19230,BMG_DS073286,"ORPHANET: PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin."
+BMGC_DS19231,BMG_DS073289,
+BMGC_DS19232,BMG_DS073290,
+BMGC_DS19233,BMG_DS073293,"ORPHANET: A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth)."
+BMGC_DS19234,BMG_DS073295,"ORPHANET: A rare functional neutrophil defect characterized by increased susceptibility to aggressive periodontitis in otherwise young, healthy individuals, due to impaired polymorphonuclear leukocyte chemotaxis toward bacterial formylpeptides. The periodontitis is rapidly progressive with progredient destruction of periodontal tissue and attachment loss."
+BMGC_DS19235,BMG_DS073297,
+BMGC_DS19236,BMG_DS073302,"ORPHANET: A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed."
+BMGC_DS19237,BMG_DS073303,"ORPHANET: A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures."
+BMGC_DS19238,BMG_DS073304,MONDO: An instance of schizencephaly that is acquired during the lifetime of the individual.
+BMGC_DS19239,BMG_DS073305,"ORPHANET: Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease."
+BMGC_DS19240,BMG_DS073307,
+BMGC_DS19241,BMG_DS073309,ORPHANET: A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.
+BMGC_DS19242,BMG_DS073327,MONDO: A channelopathy that involves the muscle tissue.
+BMGC_DS19243,BMG_DS073328,
+BMGC_DS19244,BMG_DS073331,"ORPHANET: A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease. | MONDO: A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease."
+BMGC_DS19245,BMG_DS073333,"ORPHANET: A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age."
+BMGC_DS19246,BMG_DS073334,"ORPHANET: A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia."
+BMGC_DS19247,BMG_DS073337,MONDO: An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia.
+BMGC_DS19248,BMG_DS073338,"ORPHANET: A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis."
+BMGC_DS19249,BMG_DS073339,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder."
+BMGC_DS19250,BMG_DS073340,"ORPHANET: A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy."
+BMGC_DS19251,BMG_DS073347,"ORPHANET: A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type. | MONDO: A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly."
+BMGC_DS19252,BMG_DS073348,
+BMGC_DS19253,BMG_DS073354,"ORPHANET: A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. | MONDO: A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder."
+BMGC_DS19254,BMG_DS073355,"ORPHANET: A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears."
+BMGC_DS19255,BMG_DS073356,"ORPHANET: A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported."
+BMGC_DS19256,BMG_DS073358,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. | MONDO: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported."
+BMGC_DS19257,BMG_DS073361,"ORPHANET: A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities. | MONDO: A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities."
+BMGC_DS19258,BMG_DS073366,"SNOMEDCT_US: A rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and has characteristics of ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol and low basal and stimulated androgen levels."
+BMGC_DS19259,BMG_DS073367,MONDO: A nail anomaly that is not part of a larger syndrome.
+BMGC_DS19260,BMG_DS073379,MONDO: An epilepsy syndrome that occurs between 28 days to one year of life.
+BMGC_DS19261,BMG_DS073382,MONDO: A epilepsy syndrome that occurs during childhood.
+BMGC_DS19262,BMG_DS073383,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors."
+BMGC_DS19263,BMG_DS073384,"ORPHANET: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common. | MONDO: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common."
+BMGC_DS19264,BMG_DS073387,MONDO: An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.
+BMGC_DS19265,BMG_DS073398,"ORPHANET: A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal."
+BMGC_DS19266,BMG_DS073400,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients."
+BMGC_DS19267,BMG_DS073402,
+BMGC_DS19268,BMG_DS073403,
+BMGC_DS19269,BMG_DS073404,
+BMGC_DS19270,BMG_DS073405,
+BMGC_DS19271,BMG_DS073406,
+BMGC_DS19272,BMG_DS073408,
+BMGC_DS19273,BMG_DS073409,"ORPHANET: An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. | MONDO: Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome."
+BMGC_DS19274,BMG_DS073410,"ORPHANET: An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. | MONDO: Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome."
+BMGC_DS19275,BMG_DS073411,
+BMGC_DS19276,BMG_DS073412,
+BMGC_DS19277,BMG_DS073416,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability, developmental delay, autistic behavior, short stature, and microcephaly. Additional variable manifestations include feeding problems, vision and hearing impairments, recurrent upper airway infections, and epilepsy. Reported malformations are cryptorchidism and cerebral anomalies. Dysmorphic facial features include short and upslanted palpebral fissures, ptosis, telecanthus, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum."
+BMGC_DS19278,BMG_DS073417,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. | MONDO: A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus."
+BMGC_DS19279,BMG_DS073419,"ORPHANET: A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia."
+BMGC_DS19280,BMG_DS073423,
+BMGC_DS19281,BMG_DS073428,
+BMGC_DS19282,BMG_DS073442,MONDO: An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.
+BMGC_DS19283,BMG_DS073443,
+BMGC_DS19284,BMG_DS073448,ORPHANET: Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. | MONDO: Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.
+BMGC_DS19285,BMG_DS073456,
+BMGC_DS19286,BMG_DS073459,
+BMGC_DS19287,BMG_DS073460,
+BMGC_DS19288,BMG_DS073461,
+BMGC_DS19289,BMG_DS073462,"ORPHANET: A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects."
+BMGC_DS19290,BMG_DS073464,
+BMGC_DS19291,BMG_DS073465,"MONDO: An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism."
+BMGC_DS19292,BMG_DS073467,"ORPHANET: A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. | MONDO: A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux."
+BMGC_DS19293,BMG_DS073530,"SNOMEDCT_US: An autosomal recessive hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22."
+BMGC_DS19294,BMG_DS073876,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia."
+BMGC_DS19295,BMG_DS073916,
+BMGC_DS19296,BMG_DS073917,"ORPHANET: A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. | MONDO: An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome."
+BMGC_DS19297,BMG_DS073918,"ORPHANET: A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed."
+BMGC_DS19298,BMG_DS073963,"ORPHANET: A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation, generalized edema, craniofacial dysmorphism (such as microcephaly, brachycephaly, frontal bossing, hypertelorism, short palpebral fissures, or absent nasal bone), cerebellar hypoplasia, sex reversal in male fetuses, congenital heart defects (including septal and valve defects and cardiomegaly), and late fetal loss."
+BMGC_DS19299,BMG_DS074056,"MeSH: Chronic kidney diseases not associated with traditional RISK FACTORS, e.g., TYPE 2 DIABETES MELLITUS and HYPERTENSION, but rather with infectious diseases, exposure to environmental toxins, or other unknown factors. They are most prevalent in agricultural communities of DEVELOPING COUNTRIES."
+BMGC_DS19300,BMG_DS074061,"MeSH: Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults."
+BMGC_DS19301,BMG_DS074062,"MeSH: A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction."
+BMGC_DS19302,BMG_DS074063,"MeSH: Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN."
+BMGC_DS19303,BMG_DS074087,MeSH: Persistent abnormal dilatation of the bronchi.
+BMGC_DS19304,BMG_DS074088,MeSH: Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
+BMGC_DS19305,BMG_DS074091,"MeSH: Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)"
+BMGC_DS19306,BMG_DS074094,MONDO: A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.
+BMGC_DS19307,BMG_DS074096,"MeSH: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)"
+BMGC_DS19308,BMG_DS074097,"MONDO: Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails."
+BMGC_DS19309,BMG_DS074098,"ORPHANET: A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment. | MONDO: A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment."
+BMGC_DS19310,BMG_DS074103,"ORPHANET: A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate)."
+BMGC_DS19311,BMG_DS074107,"SNOMEDCT_US: Autosomal recessive dopa responsive dystonia (DYT5b) is a very rare neurometabolic disorder with a spectrum of symptoms ranging from those seen in dopa responsive dystonia to progressive infantile encephalopathy. Disease presents in infancy (most frequently in the first year of life) with a progressive hypokinetic rigid syndrome, involuntary jerky movements, postural tremor, or gait disturbances that may fluctuate during the day and show good or excellent responsiveness to levodopa in most cases. DYT5b is caused by mutations in the tyrosine hydroxylase TH gene (11p15.5). Inherited in an autosomal recessive manner. | MONDO: Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa)."
+BMGC_DS19312,BMG_DS074108,"MONDO: Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers."
+BMGC_DS19313,BMG_DS074110,"MONDO: Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay."
+BMGC_DS19314,BMG_DS074112,"ORPHANET: A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms."
+BMGC_DS19315,BMG_DS074113,"ORPHANET: A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure."
+BMGC_DS19316,BMG_DS074116,
+BMGC_DS19317,BMG_DS074117,
+BMGC_DS19318,BMG_DS074118,"SNOMEDCT_US: A rare inherited bleeding disorder with characteristics of defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). Caused by mutations in the VWF gene (12p13.3) encoding the multimeric VWF protein. Most often transmitted in an autosomal dominant manner, however, the mode of inheritance is autosomal recessive for type 3 VWD and for some of the type 2 subtypes. | MONDO: Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N)."
+BMGC_DS19319,BMG_DS074121,"MeSH: Asthmatic adverse reaction (e.g., BRONCHOCONSTRICTION) to conventional NSAIDS including aspirin use."
+BMGC_DS19320,BMG_DS074407,
+BMGC_DS19321,BMG_DS074640,
+BMGC_DS19322,BMG_DS074641,MONDO: Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
+BMGC_DS19323,BMG_DS074642,"MONDO: An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12)."
+BMGC_DS19324,BMG_DS074643,
+BMGC_DS19325,BMG_DS074644,
+BMGC_DS19326,BMG_DS074645,
+BMGC_DS19327,BMG_DS074646,MONDO: Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.
+BMGC_DS19328,BMG_DS074647,
+BMGC_DS19329,BMG_DS074648,
+BMGC_DS19330,BMG_DS074649,
+BMGC_DS19331,BMG_DS074650,"NCI: An autosomal recessive condition caused by mutations(s) in the TAF8 gene, encoding transcription initiation factor TFIID subunit 8. It is characterized by severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy."
+BMGC_DS19332,BMG_DS074651,"MONDO: An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma."
+BMGC_DS19333,BMG_DS074652,
+BMGC_DS19334,BMG_DS074653,
+BMGC_DS19335,BMG_DS074654,
+BMGC_DS19336,BMG_DS074655,MONDO: A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.
+BMGC_DS19337,BMG_DS074656,
+BMGC_DS19338,BMG_DS074657,
+BMGC_DS19339,BMG_DS074658,
+BMGC_DS19340,BMG_DS074659,
+BMGC_DS19341,BMG_DS074660,
+BMGC_DS19342,BMG_DS074661,
+BMGC_DS19343,BMG_DS074662,
+BMGC_DS19344,BMG_DS074663,
+BMGC_DS19345,BMG_DS074664,
+BMGC_DS19346,BMG_DS074665,
+BMGC_DS19347,BMG_DS074666,
+BMGC_DS19348,BMG_DS074667,
+BMGC_DS19349,BMG_DS074668,
+BMGC_DS19350,BMG_DS074669,
+BMGC_DS19351,BMG_DS074670,
+BMGC_DS19352,BMG_DS074671,
+BMGC_DS19353,BMG_DS074672,
+BMGC_DS19354,BMG_DS074673,
+BMGC_DS19355,BMG_DS074674,
+BMGC_DS19356,BMG_DS074675,
+BMGC_DS19357,BMG_DS074676,
+BMGC_DS19358,BMG_DS074677,
+BMGC_DS19359,BMG_DS074678,
+BMGC_DS19360,BMG_DS074679,
+BMGC_DS19361,BMG_DS074680,"NCI: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein."
+BMGC_DS19362,BMG_DS074681,
+BMGC_DS19363,BMG_DS074682,
+BMGC_DS19364,BMG_DS074683,
+BMGC_DS19365,BMG_DS074684,
+BMGC_DS19366,BMG_DS074685,
+BMGC_DS19367,BMG_DS074686,
+BMGC_DS19368,BMG_DS074687,
+BMGC_DS19369,BMG_DS074688,"MONDO: Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene."
+BMGC_DS19370,BMG_DS074689,
+BMGC_DS19371,BMG_DS074690,
+BMGC_DS19372,BMG_DS074691,
+BMGC_DS19373,BMG_DS074692,
+BMGC_DS19374,BMG_DS074693,
+BMGC_DS19375,BMG_DS074694,
+BMGC_DS19376,BMG_DS074695,
+BMGC_DS19377,BMG_DS074696,
+BMGC_DS19378,BMG_DS074697,
+BMGC_DS19379,BMG_DS074698,
+BMGC_DS19380,BMG_DS074699,
+BMGC_DS19381,BMG_DS074700,
+BMGC_DS19382,BMG_DS074701,
+BMGC_DS19383,BMG_DS074702,
+BMGC_DS19384,BMG_DS074703,
+BMGC_DS19385,BMG_DS074704,
+BMGC_DS19386,BMG_DS074705,
+BMGC_DS19387,BMG_DS074706,
+BMGC_DS19388,BMG_DS074707,
+BMGC_DS19389,BMG_DS074708,
+BMGC_DS19390,BMG_DS074709,
+BMGC_DS19391,BMG_DS074710,
+BMGC_DS19392,BMG_DS074711,
+BMGC_DS19393,BMG_DS074712,
+BMGC_DS19394,BMG_DS074713,
+BMGC_DS19395,BMG_DS074714,
+BMGC_DS19396,BMG_DS074715,
+BMGC_DS19397,BMG_DS074716,
+BMGC_DS19398,BMG_DS074717,
+BMGC_DS19399,BMG_DS074718,
+BMGC_DS19400,BMG_DS074719,
+BMGC_DS19401,BMG_DS074720,
+BMGC_DS19402,BMG_DS074721,
+BMGC_DS19403,BMG_DS074722,
+BMGC_DS19404,BMG_DS074723,
+BMGC_DS19405,BMG_DS074724,
+BMGC_DS19406,BMG_DS074725,
+BMGC_DS19407,BMG_DS074726,
+BMGC_DS19408,BMG_DS074727,
+BMGC_DS19409,BMG_DS074728,
+BMGC_DS19410,BMG_DS074729,
+BMGC_DS19411,BMG_DS074730,
+BMGC_DS19412,BMG_DS074731,
+BMGC_DS19413,BMG_DS074732,
+BMGC_DS19414,BMG_DS074733,
+BMGC_DS19415,BMG_DS074734,
+BMGC_DS19416,BMG_DS074735,
+BMGC_DS19417,BMG_DS074736,
+BMGC_DS19418,BMG_DS074737,
+BMGC_DS19419,BMG_DS074738,
+BMGC_DS19420,BMG_DS074739,
+BMGC_DS19421,BMG_DS074740,
+BMGC_DS19422,BMG_DS074741,
+BMGC_DS19423,BMG_DS074742,
+BMGC_DS19424,BMG_DS074743,
+BMGC_DS19425,BMG_DS074744,
+BMGC_DS19426,BMG_DS074745,
+BMGC_DS19427,BMG_DS074746,
+BMGC_DS19428,BMG_DS074747,
+BMGC_DS19429,BMG_DS074748,
+BMGC_DS19430,BMG_DS074749,
+BMGC_DS19431,BMG_DS074750,
+BMGC_DS19432,BMG_DS074751,
+BMGC_DS19433,BMG_DS074752,
+BMGC_DS19434,BMG_DS074753,
+BMGC_DS19435,BMG_DS074754,
+BMGC_DS19436,BMG_DS074755,
+BMGC_DS19437,BMG_DS074756,
+BMGC_DS19438,BMG_DS074757,
+BMGC_DS19439,BMG_DS074758,
+BMGC_DS19440,BMG_DS074759,
+BMGC_DS19441,BMG_DS074760,
+BMGC_DS19442,BMG_DS074761,
+BMGC_DS19443,BMG_DS074762,
+BMGC_DS19444,BMG_DS074763,
+BMGC_DS19445,BMG_DS074764,
+BMGC_DS19446,BMG_DS074765,
+BMGC_DS19447,BMG_DS074766,
+BMGC_DS19448,BMG_DS074767,
+BMGC_DS19449,BMG_DS074768,
+BMGC_DS19450,BMG_DS074769,
+BMGC_DS19451,BMG_DS074770,
+BMGC_DS19452,BMG_DS074771,
+BMGC_DS19453,BMG_DS074772,
+BMGC_DS19454,BMG_DS074773,
+BMGC_DS19455,BMG_DS074774,
+BMGC_DS19456,BMG_DS074775,
+BMGC_DS19457,BMG_DS074776,
+BMGC_DS19458,BMG_DS074777,
+BMGC_DS19459,BMG_DS074780,MONDO: Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.
+BMGC_DS19460,BMG_DS074819,NCI: An inherited dystonia that is characterized by abnormal postures and sustained muscle contractions leading to twisting or repetitive movements.
+BMGC_DS19461,BMG_DS074821,MONDO: Autosomal dominant form of nonsyndromic deafness.
+BMGC_DS19462,BMG_DS074823,"SNOMEDCT_US: A rare genetic cerebral small vessel disease with isolated marked tortuosity of second order and third order retinal arteries with normal first order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal haemorrhage following physical exertion or minor trauma."
+BMGC_DS19463,BMG_DS074826,
+BMGC_DS19464,BMG_DS074829,MONDO: Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. | MeSH: Persistent flexure or contracture of a joint.
+BMGC_DS19465,BMG_DS074831,MONDO: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome.
+BMGC_DS19466,BMG_DS074832,ORPHANET: A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors.
+BMGC_DS19467,BMG_DS074834,
+BMGC_DS19468,BMG_DS074836,
+BMGC_DS19469,BMG_DS074837,"SNOMEDCT_US: A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations. | MONDO: LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol."
+BMGC_DS19470,BMG_DS074838,
+BMGC_DS19471,BMG_DS074840,"MONDO: A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)"
+BMGC_DS19472,BMG_DS074841,"HPO: Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. [https://orcid.org/0000-0002-0736-9199] | MeSH: A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C."
+BMGC_DS19473,BMG_DS074845,
+BMGC_DS19474,BMG_DS074846,"SNOMEDCT_US: A mild to severe congenital X-linked developmental disorder with hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. Primarily affects males. Affected males have varying degrees of hydrocephalus ranging from subclinical to severe. Intellectual deficit ranges from mild to severe. Adducted thumbs are a characteristic feature of the syndrome, present in about 50% of cases. Caused by mutations in the L1CAM gene (Xq28) encoding the L1 cell adhesion molecule that is expressed mainly in the developing nervous system. Inherited in an X-linked manner. | MONDO: L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis."
+BMGC_DS19475,BMG_DS074847,"ORPHANET: A congenital, X-linked, clinical subtype of L1 syndrome, characterized by spastic paraplegia, mild to moderate intellectual disability and normal brain morphology. This subtype represents the milder end of the L1 syndrome spectrum. | MONDO: An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain."
+BMGC_DS19476,BMG_DS074850,
+BMGC_DS19477,BMG_DS074856,"ORPHANET: A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable clinical phenotype, including a benign infantile mitochondrial type affecting mainly the skeletal muscle, a lethal infantile mitochondrial myopathy linked to severe metabolic acidosis and mitochondrial dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, progressive, and fatal encephalopathy, and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver."
+BMGC_DS19478,BMG_DS074857,MONDO: Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.
+BMGC_DS19479,BMG_DS074860,
+BMGC_DS19480,BMG_DS074861,"NCI: An autosomal dominant condition caused by heterozygous hexanucleotide repeat expansion in a noncoding region of the C9ORF72 gene , encoding guanine nucleotide exchange C9orf72. It is characterized by amyotrophic lateral sclerosis with frontotemporal dementia. | MONDO: Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene."
+BMGC_DS19481,BMG_DS074862,"SNOMEDCT_US: A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression. | MONDO: Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly."
+BMGC_DS19482,BMG_DS074866,
+BMGC_DS19483,BMG_DS074867,NCI: A neurological disorder characterized by recurring seizures presenting within the first three months of life and progressive cerebral dysfunction.
+BMGC_DS19484,BMG_DS074870,MONDO: Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.
+BMGC_DS19485,BMG_DS074871,
+BMGC_DS19486,BMG_DS074873,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients."
+BMGC_DS19487,BMG_DS074874,"ORPHANET: A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present."
+BMGC_DS19488,BMG_DS074875,MONDO: An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
+BMGC_DS19489,BMG_DS074876,"ORPHANET: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly."
+BMGC_DS19490,BMG_DS074877,"NCI: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1."
+BMGC_DS19491,BMG_DS074879,"ORPHANET: A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others."
+BMGC_DS19492,BMG_DS074884,"MeSH: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES."
+BMGC_DS19493,BMG_DS074885,"MeSH: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES."
+BMGC_DS19494,BMG_DS074887,"MeSH: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES."
+BMGC_DS19495,BMG_DS074893,
+BMGC_DS19496,BMG_DS074895,
+BMGC_DS19497,BMG_DS074896,"MeSH: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES."
+BMGC_DS19498,BMG_DS074899,"MeSH: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES."
+BMGC_DS19499,BMG_DS075112,"ORPHANET: A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. | MONDO: A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years."
+BMGC_DS19500,BMG_DS075113,"SNOMEDCT_US: A rare genetic syndrome with characteristics of developmental delay and mild to moderate intellectual disability. Verbal language acquisition is usually delayed, with restricted language. The congenital heart defects are present in 41% of individuals, the most frequent being interatrial communication and interventricular communication. The syndrome is caused by heterozygous, usually de novo pathogenic or likely pathogenic variants in the CDK13 gene (7p14.1), coding for a protein which regulates transcription. Transmission is autosomal dominant however, in most situations, the pathogenic variants arise de novo, and thus, the risk of sibling recurrence is low."
+BMGC_DS19501,BMG_DS075144,
+BMGC_DS19502,BMG_DS075145,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Addinitonal clinical features may include gastrointestinal problems, lipodystrophy&amp;#8208;like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male."
+BMGC_DS19503,BMG_DS075151,"ORPHANET: A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. | MONDO: A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient."
+BMGC_DS19504,BMG_DS075154,"ORPHANET: A rare combined T and B cell immunodeficiency characterized by early-onset of recurrent severe bacterial, viral, and fungal infections. Many patients present failure to thrive. Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinemia."
+BMGC_DS19505,BMG_DS075155,ORPHANET: A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.
+BMGC_DS19506,BMG_DS075156,
+BMGC_DS19507,BMG_DS075157,
+BMGC_DS19508,BMG_DS075158,"ORPHANET: A rare neurodevelopmental syndrome characterized by global developmental delay, intellectual disability of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions, epilepsy), non-specific magnetic resonance imaging (MRI) abnormalities, ophthalmologic abnormalities, sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated."
+BMGC_DS19509,BMG_DS075163,
+BMGC_DS19510,BMG_DS075166,
+BMGC_DS19511,BMG_DS075173,"ORPHANET: A rare, genetic, syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears."
+BMGC_DS19512,BMG_DS075177,
+BMGC_DS19513,BMG_DS075178,
+BMGC_DS19514,BMG_DS075179,"ORPHANET: A rare genetic neurological syndrome of variable severity characterized by progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia."
+BMGC_DS19515,BMG_DS075180,"ORPHANET: A rare genetic neurological syndrome characterized by cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features."
+BMGC_DS19516,BMG_DS075183,"ORPHANET: A rare genetic, peroxisomal disease characterized by childhood or adolescence onset slowly progressing cerebellar ataxia and severe axonal sensorimotor polyneuropathy due to PEX 2 deficieny. Patients develop marked brain atrophy including cerebellum, cerebellar peduncles, and bulbar olives. Gait disturbance, moderate truncal ataxia, moderate cerebellar tremor, mild dysarthria, areflexia, strabismus, hypoacusia and nystagmus were also reported."
+BMGC_DS19517,BMG_DS075184,"ORPHANET: A rare genetic, peroxisomal disease characterized by chilhood onset progressive spastic paraparesis and ataxia due to PEX 16 deficieny. Additional clinical features include demyelinating and peripheral neuropathies, progressive unsteady gait and limb tremor, dystonia, marked lower limb spasticity, upper limb ataxia, involuntary facial movements, speech disturbance (including cerebellar dysarthria) and cataract. All patients need wheelchair in different periods of their lives depending on the severity of their condition. Cognitive functions are mostly preserved (slow deterioration over time were observed in few cases)."
+BMGC_DS19518,BMG_DS075186,"ORPHANET: A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis."
+BMGC_DS19519,BMG_DS075187,"ORPHANET: A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to moderate intellectual disability, autism spectrum phenotype, macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions and seizures."
+BMGC_DS19520,BMG_DS075188,
+BMGC_DS19521,BMG_DS075746,"MeSH: Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems."
+BMGC_DS19522,BMG_DS075747,"MeSH: Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems."
+BMGC_DS19523,BMG_DS075749,"MONDO: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) | MeSH: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)"
+BMGC_DS19524,BMG_DS075750,"MeSH: A mosquito-borne viral illness caused by the WEST NILE VIRUS, a FLAVIVIRUS and endemic to regions of Africa, Asia, and Europe. Common clinical features include HEADACHE; FEVER; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. MENINGITIS; ENCEPHALITIS; and MYELITIS may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71)"
+BMGC_DS19525,BMG_DS075753,"MeSH: Formation or presence of a blood clot (THROMBUS) in the CAVERNOUS SINUS of the brain. Infections of the paranasal sinuses and adjacent structures, CRANIOCEREBRAL TRAUMA, and THROMBOPHILIA are associated conditions. Clinical manifestations include dysfunction of cranial nerves III, IV, V, and VI, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)"
+BMGC_DS19526,BMG_DS075754,"MeSH: Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)"
+BMGC_DS19527,BMG_DS075755,"MeSH: Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)"
+BMGC_DS19528,BMG_DS075756,"MeSH: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
+BMGC_DS19529,BMG_DS075758,"MeSH: Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain."
+BMGC_DS19530,BMG_DS075765,
+BMGC_DS19531,BMG_DS075766,
+BMGC_DS19532,BMG_DS075767,
+BMGC_DS19533,BMG_DS075768,
+BMGC_DS19534,BMG_DS075769,
+BMGC_DS19535,BMG_DS075770,
+BMGC_DS19536,BMG_DS075771,
+BMGC_DS19537,BMG_DS075772,
+BMGC_DS19538,BMG_DS075773,
+BMGC_DS19539,BMG_DS075774,MONDO: Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.
+BMGC_DS19540,BMG_DS075775,
+BMGC_DS19541,BMG_DS075776,
+BMGC_DS19542,BMG_DS075777,
+BMGC_DS19543,BMG_DS075778,
+BMGC_DS19544,BMG_DS075780,
+BMGC_DS19545,BMG_DS075781,
+BMGC_DS19546,BMG_DS075782,
+BMGC_DS19547,BMG_DS075783,
+BMGC_DS19548,BMG_DS075784,
+BMGC_DS19549,BMG_DS075785,
+BMGC_DS19550,BMG_DS075786,
+BMGC_DS19551,BMG_DS075787,
+BMGC_DS19552,BMG_DS075788,
+BMGC_DS19553,BMG_DS075789,
+BMGC_DS19554,BMG_DS075790,
+BMGC_DS19555,BMG_DS075791,
+BMGC_DS19556,BMG_DS075792,
+BMGC_DS19557,BMG_DS075793,
+BMGC_DS19558,BMG_DS075794,
+BMGC_DS19559,BMG_DS075795,
+BMGC_DS19560,BMG_DS075796,
+BMGC_DS19561,BMG_DS075797,
+BMGC_DS19562,BMG_DS075798,
+BMGC_DS19563,BMG_DS075799,
+BMGC_DS19564,BMG_DS075800,
+BMGC_DS19565,BMG_DS075801,
+BMGC_DS19566,BMG_DS075802,
+BMGC_DS19567,BMG_DS075803,
+BMGC_DS19568,BMG_DS075804,
+BMGC_DS19569,BMG_DS075805,
+BMGC_DS19570,BMG_DS075806,
+BMGC_DS19571,BMG_DS075807,
+BMGC_DS19572,BMG_DS075808,
+BMGC_DS19573,BMG_DS075809,
+BMGC_DS19574,BMG_DS075810,
+BMGC_DS19575,BMG_DS075811,
+BMGC_DS19576,BMG_DS075812,
+BMGC_DS19577,BMG_DS075813,
+BMGC_DS19578,BMG_DS075814,
+BMGC_DS19579,BMG_DS075815,
+BMGC_DS19580,BMG_DS075816,
+BMGC_DS19581,BMG_DS075817,
+BMGC_DS19582,BMG_DS075818,
+BMGC_DS19583,BMG_DS075819,
+BMGC_DS19584,BMG_DS075820,
+BMGC_DS19585,BMG_DS075821,
+BMGC_DS19586,BMG_DS075822,
+BMGC_DS19587,BMG_DS075823,
+BMGC_DS19588,BMG_DS075824,
+BMGC_DS19589,BMG_DS075825,
+BMGC_DS19590,BMG_DS075826,
+BMGC_DS19591,BMG_DS075827,
+BMGC_DS19592,BMG_DS075828,
+BMGC_DS19593,BMG_DS075829,
+BMGC_DS19594,BMG_DS075830,
+BMGC_DS19595,BMG_DS075831,
+BMGC_DS19596,BMG_DS075832,
+BMGC_DS19597,BMG_DS075833,
+BMGC_DS19598,BMG_DS075834,MONDO: Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene.
+BMGC_DS19599,BMG_DS075835,
+BMGC_DS19600,BMG_DS075836,
+BMGC_DS19601,BMG_DS075837,
+BMGC_DS19602,BMG_DS075838,
+BMGC_DS19603,BMG_DS075839,
+BMGC_DS19604,BMG_DS075840,
+BMGC_DS19605,BMG_DS075841,
+BMGC_DS19606,BMG_DS075842,
+BMGC_DS19607,BMG_DS075843,
+BMGC_DS19608,BMG_DS075844,
+BMGC_DS19609,BMG_DS075845,
+BMGC_DS19610,BMG_DS075846,
+BMGC_DS19611,BMG_DS075847,
+BMGC_DS19612,BMG_DS075848,
+BMGC_DS19613,BMG_DS075849,
+BMGC_DS19614,BMG_DS075850,
+BMGC_DS19615,BMG_DS075851,
+BMGC_DS19616,BMG_DS075852,
+BMGC_DS19617,BMG_DS075853,
+BMGC_DS19618,BMG_DS075854,
+BMGC_DS19619,BMG_DS075855,
+BMGC_DS19620,BMG_DS075856,
+BMGC_DS19621,BMG_DS075857,
+BMGC_DS19622,BMG_DS075858,
+BMGC_DS19623,BMG_DS075859,
+BMGC_DS19624,BMG_DS075860,
+BMGC_DS19625,BMG_DS075861,
+BMGC_DS19626,BMG_DS075862,
+BMGC_DS19627,BMG_DS075863,
+BMGC_DS19628,BMG_DS075864,
+BMGC_DS19629,BMG_DS075865,
+BMGC_DS19630,BMG_DS075866,
+BMGC_DS19631,BMG_DS075867,
+BMGC_DS19632,BMG_DS075868,
+BMGC_DS19633,BMG_DS075869,
+BMGC_DS19634,BMG_DS075870,
+BMGC_DS19635,BMG_DS075871,"MONDO: An autosomal dominant intellectual disability disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features."
+BMGC_DS19636,BMG_DS075872,
+BMGC_DS19637,BMG_DS075873,
+BMGC_DS19638,BMG_DS075874,
+BMGC_DS19639,BMG_DS075875,
+BMGC_DS19640,BMG_DS075876,
+BMGC_DS19641,BMG_DS075877,
+BMGC_DS19642,BMG_DS075878,
+BMGC_DS19643,BMG_DS075879,
+BMGC_DS19644,BMG_DS075880,
+BMGC_DS19645,BMG_DS075881,
+BMGC_DS19646,BMG_DS075882,
+BMGC_DS19647,BMG_DS075883,
+BMGC_DS19648,BMG_DS075884,
+BMGC_DS19649,BMG_DS075885,
+BMGC_DS19650,BMG_DS075886,MONDO: Birt-Hogg-Dube syndrome caused by the mutations in PRDM10.
+BMGC_DS19651,BMG_DS075887,
+BMGC_DS19652,BMG_DS075888,
+BMGC_DS19653,BMG_DS075890,
+BMGC_DS19654,BMG_DS075894,
+BMGC_DS19655,BMG_DS075898,"NCI: An autosomal dominant condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. The phenotype is variable, but generally includes weakness in the proximal muscles of the lower limb and individuals are at increased risk for malignant hyperthermia. | MONDO: An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation."
+BMGC_DS19656,BMG_DS075901,
+BMGC_DS19657,BMG_DS075960,"SNOMEDCT_US: A rare genetic malformation disorder with characteristics of cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Associated with mutations in the IRF6 gene (1q32.2-q32.3) which is involved in the formation of connective and epithelial tissues. Follows an autosomal dominant pattern of inheritance. | MONDO: Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail."
+BMGC_DS19658,BMG_DS075964,MONDO: An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
+BMGC_DS19659,BMG_DS075985,ORPHANET: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. | MONDO: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
+BMGC_DS19660,BMG_DS075988,
+BMGC_DS19661,BMG_DS075991,MONDO: Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.
+BMGC_DS19662,BMG_DS075996,"NCI: A very rare, autosomal recessive inherited skin disorder present at birth. It is characterized by the presence of a transparent membrane encasing the newborn. This membrane sheds in about two weeks after birth to reveal generalized scaling and skin erythema. | MONDO: A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma."
+BMGC_DS19663,BMG_DS075998,ORPHANET: Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms).
+BMGC_DS19664,BMG_DS075999,"MeSH: A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)"
+BMGC_DS19665,BMG_DS076000,ORPHANET: Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
+BMGC_DS19666,BMG_DS076002,"NCI: The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia. | MONDO: A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. | MeSH: A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)"
+BMGC_DS19667,BMG_DS076004,"MeSH: Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways."
+BMGC_DS19668,BMG_DS076011,"MONDO: Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS."
+BMGC_DS19669,BMG_DS076012,"MeSH: A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues."
+BMGC_DS19670,BMG_DS076015,"MONDO: Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome."
+BMGC_DS19671,BMG_DS076020,"SNOMEDCT_US: A very rare, persistent and more severe form of potassium-aggravated myotonia. Begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs, and thoracic muscles. It can be aggravated by exercise or potassium ingestion and less often by cold. Myotonia permanens is a muscle sodium channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. | MONDO: Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM)."
+BMGC_DS19672,BMG_DS076029,
+BMGC_DS19673,BMG_DS076030,
+BMGC_DS19674,BMG_DS076031,
+BMGC_DS19675,BMG_DS076075,NCI: B-acute lymphoblastic leukemia associated with MYC gene rearrangement. The prognosis is poor.
+BMGC_DS19676,BMG_DS076077,NCI: B-acute lymphoblastic leukemia associated with MEF2D gene rearrangement. The prognosis is poor.
+BMGC_DS19677,BMG_DS076078,NCI: B-acute lymphoblastic leukemia associated with ZNF384 gene rearrangement. The prognosis is variable.
+BMGC_DS19678,BMG_DS076079,NCI: B-acute lymphoblastic leukemia associated with NUTM1 gene rearrangement. The prognosis is good.
+BMGC_DS19679,BMG_DS076081,"NCI: B-acute lymphoblastic leukemia associated with PAX5 gene alteration, including rearrangements, point mutations, and intragenic lesions. This is a provisional entity."
+BMGC_DS19680,BMG_DS076082,NCI: Acute myeloid leukemia associated with FUS-ERG gene fusion. The prognosis is poor.
+BMGC_DS19681,BMG_DS076083,NCI: Acute myeloid leukemia associated with NPM1-MLF1 gene fusion.
+BMGC_DS19682,BMG_DS076084,NCI: An exceptionally rare childhood B-lymphoblastic leukemia/lymphoma associated with TCF3-HLF gene rearrangement resulting in the formation of TCF3-HLF chimeric transcription factor. The prognosis is poor.
+BMGC_DS19683,BMG_DS076421,"MONDO: Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell."
+BMGC_DS19684,BMG_DS076422,
+BMGC_DS19685,BMG_DS076423,
+BMGC_DS19686,BMG_DS076424,
+BMGC_DS19687,BMG_DS076425,"MONDO: A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood."
+BMGC_DS19688,BMG_DS076426,
+BMGC_DS19689,BMG_DS076427,MONDO: Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.
+BMGC_DS19690,BMG_DS076428,
+BMGC_DS19691,BMG_DS076429,
+BMGC_DS19692,BMG_DS076430,
+BMGC_DS19693,BMG_DS076431,
+BMGC_DS19694,BMG_DS076432,
+BMGC_DS19695,BMG_DS076433,
+BMGC_DS19696,BMG_DS076434,
+BMGC_DS19697,BMG_DS076435,
+BMGC_DS19698,BMG_DS076436,
+BMGC_DS19699,BMG_DS076437,
+BMGC_DS19700,BMG_DS076438,
+BMGC_DS19701,BMG_DS076439,
+BMGC_DS19702,BMG_DS076440,
+BMGC_DS19703,BMG_DS076441,
+BMGC_DS19704,BMG_DS076442,
+BMGC_DS19705,BMG_DS076443,
+BMGC_DS19706,BMG_DS076444,
+BMGC_DS19707,BMG_DS076445,
+BMGC_DS19708,BMG_DS076446,
+BMGC_DS19709,BMG_DS076447,
+BMGC_DS19710,BMG_DS076448,
+BMGC_DS19711,BMG_DS076449,
+BMGC_DS19712,BMG_DS076450,
+BMGC_DS19713,BMG_DS076451,
+BMGC_DS19714,BMG_DS076452,
+BMGC_DS19715,BMG_DS076453,
+BMGC_DS19716,BMG_DS076454,
+BMGC_DS19717,BMG_DS076455,
+BMGC_DS19718,BMG_DS076456,
+BMGC_DS19719,BMG_DS076457,
+BMGC_DS19720,BMG_DS076458,
+BMGC_DS19721,BMG_DS076459,
+BMGC_DS19722,BMG_DS076460,
+BMGC_DS19723,BMG_DS076461,
+BMGC_DS19724,BMG_DS076462,
+BMGC_DS19725,BMG_DS076463,
+BMGC_DS19726,BMG_DS076464,
+BMGC_DS19727,BMG_DS076465,
+BMGC_DS19728,BMG_DS076466,
+BMGC_DS19729,BMG_DS076467,
+BMGC_DS19730,BMG_DS076468,
+BMGC_DS19731,BMG_DS076469,
+BMGC_DS19732,BMG_DS076470,
+BMGC_DS19733,BMG_DS076471,
+BMGC_DS19734,BMG_DS076472,
+BMGC_DS19735,BMG_DS076473,
+BMGC_DS19736,BMG_DS076474,
+BMGC_DS19737,BMG_DS076475,
+BMGC_DS19738,BMG_DS076476,
+BMGC_DS19739,BMG_DS076477,
+BMGC_DS19740,BMG_DS076478,
+BMGC_DS19741,BMG_DS076479,
+BMGC_DS19742,BMG_DS076480,
+BMGC_DS19743,BMG_DS076481,
+BMGC_DS19744,BMG_DS076482,
+BMGC_DS19745,BMG_DS076483,
+BMGC_DS19746,BMG_DS076484,
+BMGC_DS19747,BMG_DS076485,
+BMGC_DS19748,BMG_DS076486,
+BMGC_DS19749,BMG_DS076487,
+BMGC_DS19750,BMG_DS076488,
+BMGC_DS19751,BMG_DS076489,
+BMGC_DS19752,BMG_DS076490,
+BMGC_DS19753,BMG_DS076491,
+BMGC_DS19754,BMG_DS076492,
+BMGC_DS19755,BMG_DS076493,
+BMGC_DS19756,BMG_DS076494,
+BMGC_DS19757,BMG_DS076495,
+BMGC_DS19758,BMG_DS076496,
+BMGC_DS19759,BMG_DS076497,
+BMGC_DS19760,BMG_DS076498,
+BMGC_DS19761,BMG_DS076499,
+BMGC_DS19762,BMG_DS076500,
+BMGC_DS19763,BMG_DS076501,
+BMGC_DS19764,BMG_DS076502,
+BMGC_DS19765,BMG_DS076503,
+BMGC_DS19766,BMG_DS076504,
+BMGC_DS19767,BMG_DS076505,
+BMGC_DS19768,BMG_DS076506,
+BMGC_DS19769,BMG_DS076507,
+BMGC_DS19770,BMG_DS076508,
+BMGC_DS19771,BMG_DS076509,
+BMGC_DS19772,BMG_DS076510,
+BMGC_DS19773,BMG_DS076511,
+BMGC_DS19774,BMG_DS076512,
+BMGC_DS19775,BMG_DS076513,
+BMGC_DS19776,BMG_DS076514,
+BMGC_DS19777,BMG_DS076515,
+BMGC_DS19778,BMG_DS076542,MONDO: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.
+BMGC_DS19779,BMG_DS076544,"MONDO: Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis. | MeSH: An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS."
+BMGC_DS19780,BMG_DS076545,
+BMGC_DS19781,BMG_DS076555,"NCI: A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy. | MeSH: Infections with bacteria of the genus LISTERIA."
+BMGC_DS19782,BMG_DS076568,"MONDO: X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness."
+BMGC_DS19783,BMG_DS076569,"MONDO: Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported."
+BMGC_DS19784,BMG_DS076573,
+BMGC_DS19785,BMG_DS076574,
+BMGC_DS19786,BMG_DS076576,
+BMGC_DS19787,BMG_DS076577,"MeSH: Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME. | MeSH: Lack of pigmentation in certain parts of the body results in patches of lighter-colored skin, hair, or eyes."
+BMGC_DS19788,BMG_DS076578,"MeSH: A fungal infection by BLASTOMYCES that may appear in two forms: 1, a primary lesion characterized by the formation of a small cutaneous nodule and small nodules along the lymphatics that may heal within several months; and 2, chronic granulomatous lesions characterized by thick crusts, warty growths, and unusual vascularity and infection in the middle or upper lobes of the lung."
+BMGC_DS19789,BMG_DS077374,
+BMGC_DS19790,BMG_DS077375,
+BMGC_DS19791,BMG_DS077376,
+BMGC_DS19792,BMG_DS077377,
+BMGC_DS19793,BMG_DS077378,
+BMGC_DS19794,BMG_DS077379,
+BMGC_DS19795,BMG_DS077380,
+BMGC_DS19796,BMG_DS077381,
+BMGC_DS19797,BMG_DS077382,
+BMGC_DS19798,BMG_DS077383,
+BMGC_DS19799,BMG_DS077384,
+BMGC_DS19800,BMG_DS077385,
+BMGC_DS19801,BMG_DS077386,
+BMGC_DS19802,BMG_DS077387,
+BMGC_DS19803,BMG_DS077388,
+BMGC_DS19804,BMG_DS077389,
+BMGC_DS19805,BMG_DS077390,
+BMGC_DS19806,BMG_DS077391,
+BMGC_DS19807,BMG_DS077392,
+BMGC_DS19808,BMG_DS077393,
+BMGC_DS19809,BMG_DS077394,
+BMGC_DS19810,BMG_DS077395,
+BMGC_DS19811,BMG_DS077396,
+BMGC_DS19812,BMG_DS077397,
+BMGC_DS19813,BMG_DS077398,
+BMGC_DS19814,BMG_DS077399,
+BMGC_DS19815,BMG_DS077400,
+BMGC_DS19816,BMG_DS077401,
+BMGC_DS19817,BMG_DS077402,
+BMGC_DS19818,BMG_DS077403,
+BMGC_DS19819,BMG_DS077404,
+BMGC_DS19820,BMG_DS077405,
+BMGC_DS19821,BMG_DS077406,
+BMGC_DS19822,BMG_DS077407,
+BMGC_DS19823,BMG_DS077408,
+BMGC_DS19824,BMG_DS077409,
+BMGC_DS19825,BMG_DS077410,
+BMGC_DS19826,BMG_DS077411,
+BMGC_DS19827,BMG_DS077412,
+BMGC_DS19828,BMG_DS077413,
+BMGC_DS19829,BMG_DS077414,
+BMGC_DS19830,BMG_DS077415,
+BMGC_DS19831,BMG_DS077416,
+BMGC_DS19832,BMG_DS077417,
+BMGC_DS19833,BMG_DS077418,
+BMGC_DS19834,BMG_DS077419,
+BMGC_DS19835,BMG_DS077420,
+BMGC_DS19836,BMG_DS077421,
+BMGC_DS19837,BMG_DS077422,
+BMGC_DS19838,BMG_DS077423,
+BMGC_DS19839,BMG_DS077424,
+BMGC_DS19840,BMG_DS077425,
+BMGC_DS19841,BMG_DS077426,
+BMGC_DS19842,BMG_DS077427,
+BMGC_DS19843,BMG_DS077428,
+BMGC_DS19844,BMG_DS077429,
+BMGC_DS19845,BMG_DS077430,
+BMGC_DS19846,BMG_DS077431,
+BMGC_DS19847,BMG_DS077432,
+BMGC_DS19848,BMG_DS077433,
+BMGC_DS19849,BMG_DS077434,
+BMGC_DS19850,BMG_DS077435,
+BMGC_DS19851,BMG_DS077436,
+BMGC_DS19852,BMG_DS077437,
+BMGC_DS19853,BMG_DS077438,
+BMGC_DS19854,BMG_DS077439,
+BMGC_DS19855,BMG_DS077440,
+BMGC_DS19856,BMG_DS077441,
+BMGC_DS19857,BMG_DS077442,
+BMGC_DS19858,BMG_DS077443,
+BMGC_DS19859,BMG_DS077444,
+BMGC_DS19860,BMG_DS077445,
+BMGC_DS19861,BMG_DS077446,
+BMGC_DS19862,BMG_DS077447,
+BMGC_DS19863,BMG_DS077448,
+BMGC_DS19864,BMG_DS077449,
+BMGC_DS19865,BMG_DS077473,
+BMGC_DS19866,BMG_DS077478,MeSH: Diseases affecting the orderly growth and persistence of hair.
+BMGC_DS19867,BMG_DS077479,"MeSH: A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences."
+BMGC_DS19868,BMG_DS077480,"MeSH: A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)."
+BMGC_DS19869,BMG_DS077481,"MeSH: A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)."
+BMGC_DS19870,BMG_DS077485,
+BMGC_DS19871,BMG_DS077486,
+BMGC_DS19872,BMG_DS077488,
+BMGC_DS19873,BMG_DS077489,
+BMGC_DS19874,BMG_DS077490,
+BMGC_DS19875,BMG_DS077491,
+BMGC_DS19876,BMG_DS077492,"MONDO: Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM)."
+BMGC_DS19877,BMG_DS077494,
+BMGC_DS19878,BMG_DS077495,
+BMGC_DS19879,BMG_DS077496,
+BMGC_DS19880,BMG_DS077497,
+BMGC_DS19881,BMG_DS077498,
+BMGC_DS19882,BMG_DS077499,"MONDO: Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency."
+BMGC_DS19883,BMG_DS077500,
+BMGC_DS19884,BMG_DS077501,
+BMGC_DS19885,BMG_DS077502,
+BMGC_DS19886,BMG_DS077503,
+BMGC_DS19887,BMG_DS077504,
+BMGC_DS19888,BMG_DS077505,
+BMGC_DS19889,BMG_DS077508,
+BMGC_DS19890,BMG_DS077509,
+BMGC_DS19891,BMG_DS077510,
+BMGC_DS19892,BMG_DS077511,"MONDO: A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars."
+BMGC_DS19893,BMG_DS077512,
+BMGC_DS19894,BMG_DS077513,
+BMGC_DS19895,BMG_DS077514,
+BMGC_DS19896,BMG_DS077515,
+BMGC_DS19897,BMG_DS077516,
+BMGC_DS19898,BMG_DS077517,"MONDO: Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes."
+BMGC_DS19899,BMG_DS077518,
+BMGC_DS19900,BMG_DS077519,
+BMGC_DS19901,BMG_DS077520,
+BMGC_DS19902,BMG_DS077521,
+BMGC_DS19903,BMG_DS077522,
+BMGC_DS19904,BMG_DS077523,
+BMGC_DS19905,BMG_DS077524,
+BMGC_DS19906,BMG_DS077525,
+BMGC_DS19907,BMG_DS077526,
+BMGC_DS19908,BMG_DS077527,
+BMGC_DS19909,BMG_DS077528,
+BMGC_DS19910,BMG_DS077529,
+BMGC_DS19911,BMG_DS077530,
+BMGC_DS19912,BMG_DS077533,
+BMGC_DS19913,BMG_DS077534,"MONDO: An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ)."
+BMGC_DS19914,BMG_DS077535,
+BMGC_DS19915,BMG_DS077536,"MONDO: A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms."
+BMGC_DS19916,BMG_DS077537,
+BMGC_DS19917,BMG_DS077539,
+BMGC_DS19918,BMG_DS077540,
+BMGC_DS19919,BMG_DS077541,
+BMGC_DS19920,BMG_DS077542,
+BMGC_DS19921,BMG_DS077543,
+BMGC_DS19922,BMG_DS077546,
+BMGC_DS19923,BMG_DS077547,
+BMGC_DS19924,BMG_DS077549,
+BMGC_DS19925,BMG_DS077550,
+BMGC_DS19926,BMG_DS077551,
+BMGC_DS19927,BMG_DS077553,
+BMGC_DS19928,BMG_DS077554,MONDO: A synpolydactyly that is not part of a larger syndrome.
+BMGC_DS19929,BMG_DS077555,
+BMGC_DS19930,BMG_DS077557,
+BMGC_DS19931,BMG_DS077558,
+BMGC_DS19932,BMG_DS077559,
+BMGC_DS19933,BMG_DS077560,"MONDO: OBSOLETE. Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait."
+BMGC_DS19934,BMG_DS077563,
+BMGC_DS19935,BMG_DS077566,
+BMGC_DS19936,BMG_DS077567,
+BMGC_DS19937,BMG_DS077568,
+BMGC_DS19938,BMG_DS077569,MONDO: An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome.
+BMGC_DS19939,BMG_DS077571,
+BMGC_DS19940,BMG_DS077572,
+BMGC_DS19941,BMG_DS077573,
+BMGC_DS19942,BMG_DS077574,
+BMGC_DS19943,BMG_DS077575,
+BMGC_DS19944,BMG_DS077576,
+BMGC_DS19945,BMG_DS077577,
+BMGC_DS19946,BMG_DS077578,
+BMGC_DS19947,BMG_DS077579,
+BMGC_DS19948,BMG_DS077580,
+BMGC_DS19949,BMG_DS077581,
+BMGC_DS19950,BMG_DS077582,
+BMGC_DS19951,BMG_DS077583,
+BMGC_DS19952,BMG_DS077584,
+BMGC_DS19953,BMG_DS077585,
+BMGC_DS19954,BMG_DS077586,
+BMGC_DS19955,BMG_DS077587,
+BMGC_DS19956,BMG_DS077588,
+BMGC_DS19957,BMG_DS077589,
+BMGC_DS19958,BMG_DS077590,
+BMGC_DS19959,BMG_DS077591,
+BMGC_DS19960,BMG_DS077592,MONDO: A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.
+BMGC_DS19961,BMG_DS077593,
+BMGC_DS19962,BMG_DS077595,
+BMGC_DS19963,BMG_DS077596,
+BMGC_DS19964,BMG_DS077597,
+BMGC_DS19965,BMG_DS077598,
+BMGC_DS19966,BMG_DS077599,
+BMGC_DS19967,BMG_DS077600,
+BMGC_DS19968,BMG_DS077601,
+BMGC_DS19969,BMG_DS077602,
+BMGC_DS19970,BMG_DS077604,
+BMGC_DS19971,BMG_DS077605,
+BMGC_DS19972,BMG_DS077606,
+BMGC_DS19973,BMG_DS077607,
+BMGC_DS19974,BMG_DS077608,
+BMGC_DS19975,BMG_DS077609,
+BMGC_DS19976,BMG_DS077610,
+BMGC_DS19977,BMG_DS077612,
+BMGC_DS19978,BMG_DS077613,
+BMGC_DS19979,BMG_DS077614,
+BMGC_DS19980,BMG_DS077615,
+BMGC_DS19981,BMG_DS077616,
+BMGC_DS19982,BMG_DS077617,
+BMGC_DS19983,BMG_DS077618,
+BMGC_DS19984,BMG_DS077619,
+BMGC_DS19985,BMG_DS077621,
+BMGC_DS19986,BMG_DS077622,
+BMGC_DS19987,BMG_DS077623,
+BMGC_DS19988,BMG_DS077624,
+BMGC_DS19989,BMG_DS077625,
+BMGC_DS19990,BMG_DS077627,
+BMGC_DS19991,BMG_DS077628,
+BMGC_DS19992,BMG_DS077629,
+BMGC_DS19993,BMG_DS077630,
+BMGC_DS19994,BMG_DS077631,
+BMGC_DS19995,BMG_DS077632,
+BMGC_DS19996,BMG_DS077633,
+BMGC_DS19997,BMG_DS077634,
+BMGC_DS19998,BMG_DS077635,
+BMGC_DS19999,BMG_DS077636,
+BMGC_DS20000,BMG_DS077637,
+BMGC_DS20001,BMG_DS077638,
+BMGC_DS20002,BMG_DS077639,
+BMGC_DS20003,BMG_DS077640,
+BMGC_DS20004,BMG_DS077642,
+BMGC_DS20005,BMG_DS077643,
+BMGC_DS20006,BMG_DS077644,
+BMGC_DS20007,BMG_DS077645,
+BMGC_DS20008,BMG_DS077646,
+BMGC_DS20009,BMG_DS077647,
+BMGC_DS20010,BMG_DS077648,
+BMGC_DS20011,BMG_DS077649,
+BMGC_DS20012,BMG_DS077650,
+BMGC_DS20013,BMG_DS077651,
+BMGC_DS20014,BMG_DS077652,
+BMGC_DS20015,BMG_DS077653,
+BMGC_DS20016,BMG_DS077654,
+BMGC_DS20017,BMG_DS077656,"MONDO: Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision."
+BMGC_DS20018,BMG_DS077657,
+BMGC_DS20019,BMG_DS077658,
+BMGC_DS20020,BMG_DS077659,"MONDO: Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies."
+BMGC_DS20021,BMG_DS077660,
+BMGC_DS20022,BMG_DS077661,
+BMGC_DS20023,BMG_DS077662,
+BMGC_DS20024,BMG_DS077663,
+BMGC_DS20025,BMG_DS077664,
+BMGC_DS20026,BMG_DS077665,
+BMGC_DS20027,BMG_DS077667,
+BMGC_DS20028,BMG_DS077668,
+BMGC_DS20029,BMG_DS077669,
+BMGC_DS20030,BMG_DS077670,
+BMGC_DS20031,BMG_DS077672,
+BMGC_DS20032,BMG_DS077673,
+BMGC_DS20033,BMG_DS077674,
+BMGC_DS20034,BMG_DS077675,
+BMGC_DS20035,BMG_DS077676,
+BMGC_DS20036,BMG_DS077677,
+BMGC_DS20037,BMG_DS077679,
+BMGC_DS20038,BMG_DS077680,
+BMGC_DS20039,BMG_DS077682,
+BMGC_DS20040,BMG_DS077683,
+BMGC_DS20041,BMG_DS077684,
+BMGC_DS20042,BMG_DS077686,"MeSH: A clinical syndrome with acute abdominal pain that is severe, localized, and rapid in onset. Acute abdomen may be caused by a variety of disorders, injuries, or diseases."
+BMGC_DS20043,BMG_DS077688,MeSH: New abnormal growth of tissue in the ABDOMEN.
+BMGC_DS20044,BMG_DS077689,"MONDO: OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. | MeSH: Malformations of organs or body parts during development in utero."
+BMGC_DS20045,BMG_DS077690,"MeSH: Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment."
+BMGC_DS20046,BMG_DS077691,MeSH: Congenital abnormalities that affect more than one organ or body structure.
+BMGC_DS20047,BMG_DS077693,MeSH: Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
+BMGC_DS20048,BMG_DS077697,"MeSH: UTERINE BLEEDING from a GESTATION of less than 20 weeks without any CERVICAL DILATATION. It is characterized by vaginal bleeding, lower back discomfort, or midline pelvic cramping and a risk factor for MISCARRIAGE."
+BMGC_DS20049,BMG_DS077698,"MeSH: Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH."
+BMGC_DS20050,BMG_DS077708,
+BMGC_DS20051,BMG_DS077723,MeSH: Sprain or tear injuries to the ANTERIOR CRUCIATE LIGAMENT of the knee.
+BMGC_DS20052,BMG_DS077729,MeSH: Brain injuries occurring over a wide area instead of specific focal area.
+BMGC_DS20053,BMG_DS077731,MeSH: A form of acquired brain injury which occurs when a sudden trauma causes damage to the brain.
+BMGC_DS20054,BMG_DS077735,MeSH: A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX;  MYOCLONIC JERKS; and MUSCLE HYPERTONIA.
+BMGC_DS20055,BMG_DS077736,MeSH: Congenital defects in the anus and the rectum often involving the urinary and genital tracts.
+BMGC_DS20056,BMG_DS077752,"MONDO: A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG. | MeSH: A clinical syndrome defined by MYOCARDIAL ISCHEMIA symptoms; persistent elevation in the ST segments of the ELECTROCARDIOGRAM; and release of BIOMARKERS of myocardial NECROSIS (e.g., elevated TROPONIN levels). ST segment elevation in the ECG is often used in determining the treatment protocol (see also NON-ST ELEVATION MYOCARDIAL INFARCTION)."
+BMGC_DS20057,BMG_DS077753,"MeSH: Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys."
+BMGC_DS20058,BMG_DS077756,"MeSH: A severe congenital restriction of TONGUE movement, resulting from fusion or adherence of the tongue to the floor of the mouth. In partial ankyloglossia (tongue-tie) the LINGUAL FRENUM is abnormally short, or is attached too close to the tip of the tongue. OMIM: 106280"
+BMGC_DS20059,BMG_DS077757,"MeSH: Pain that may be caused by or related to cellular, tissue, and systemic changes that occur during NEOPLASM growth, tissue invasion, and METASTASIS."
+BMGC_DS20060,BMG_DS077768,MeSH: Intestinal obstruction caused by congealed MECONIUM in the distal ILEUM and CECUM. It presents shortly after birth as a failure to pass meconium and frequently occurs in infants with CYSTIC FIBROSIS.
+BMGC_DS20061,BMG_DS077769,MeSH: Strong physiological and emotional dependence on OPIUM.
+BMGC_DS20062,BMG_DS077773,"MeSH: Diseases characterized by pathological irregularities in the HEART CONDUCTION SYSTEM. They may be associated with other heart diseases and syndromes (e.g., BRUGADA SYNDROME; NEUROMUSCULAR DISEASE, HEART BLOCKS), isolated or may result from injuries. You can have a conduction disorder without having an arrhythmia, but some arrhythmias arise from conduction disorders. OMIM: 601144."
+BMGC_DS20063,BMG_DS077774,"MONDO: Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure. | MeSH: Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of HEAVY METALS. Acute and chronic exposures can cause ANEMIA; KIDNEY and LIVER damage; PULMONARY EDEMA; MEMORY LOSS and behavioral changes; bone deformities in children; and MISCARRIAGE or PREMATURE LABOR in PREGNANT PEOPLE."
+BMGC_DS20064,BMG_DS077775,"MeSH: A nonproliferative disorder of PLASMA CELLS characterized by excessive production and misfolding of IMMUNOGLOBULIN LIGHT CHAINS that form insoluble amyloid fibrils (see AMYLOID DEPOSITS) in various tissues. Clinical features include LIVER FAILURE; MULTIPLE MYELOMA; NEPHROTIC SYNDROME; RESTRICTIVE CARDIOMYOPATHY, and neuropathies."
+BMGC_DS20065,BMG_DS077778,"MeSH: A critical disease progression, often measured by a set of clinical parameters, which activates HOSPITAL RAPID RESPONSE TEAM."
+BMGC_DS20066,BMG_DS077780,MeSH: Use of a drug for a purpose not consistent with legal or medical guidelines.
+BMGC_DS20067,BMG_DS077782,"MeSH: A carcinoma originating in the lung and the most common lung cancer type in never-smokers. Malignant cells exhibit distinct features such as glandular epithelial, or tubular morphology. Mutations in KRAS, EGFR, BRAF, and ERBB2 genes are associated with this cancer."
+BMGC_DS20068,BMG_DS077783,"MeSH: The most common type of head and neck carcinoma that originates from cells on the surface of the NASAL CAVITY; MOUTH; PARANASAL SINUSES, SALIVARY GLANDS, and LARYNX. Mutations in TNFRSF10B, PTEN, and ING1 genes are associated with this cancer."
+BMGC_DS20069,BMG_DS077785,"MeSH: A malignant neoplasm that originates in cells on the surface EPITHELIUM of the ovary and is the most common form of ovarian cancer. There are five histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Mutations in BRCA1, OPCML, PRKN, PIK3CA, AKT1, CTNNB1, RRAS2, and CDH1 genes are associated with this cancer."
+BMGC_DS20070,BMG_DS077786,MeSH: Compelling urge to sleep.
+BMGC_DS20071,BMG_DS077787,"MeSH: An ADENOCARCINOMA that originates from follicular cells of the THYROID GLAND and accounts for the majority of THYROID CANCER cases. Cells exhibit enlarged, oval, or elongated morphologies with clear, round, nuclei. Fusions of RET, NTRK1, TPM3, and PCM1 genes are associated with this cancer."
+BMGC_DS20072,BMG_DS077788,"MeSH: A carcinoma that originates in the EPITHELIUM of the NASOPHARYNX and includes four subtypes: keratinizing squamous cell, non-keratinizing, basaloid squamous cell, and PAPILLARY ADENOCARCINOMA. It is most prevalent in Southeast Asian populations and is associated with EPSTEIN-BARR VIRUS INFECTIONS. Somatic mutations associated with this cancer have been identified in NPCR, BAP1, UBAP1, ERBB2, ERBB3, MLL2, PIK3CA, KRAS, NRAS, and ARID1A genes."
+BMGC_DS20073,BMG_DS077789,"MeSH: A carcinoma that originates usually from cells on the surface of the middle and lower third of the ESOPHAGUS. Tumor cells exhibit typical squamous morphology and form large polypoid lesions. Mutations in RNF6, LZTS1, TGFBR2, DEC1, and WWOX1 genes are associated with this cancer."
+BMGC_DS20074,BMG_DS077793,MeSH: A general pattern of body weight gain or loss over many years. Weight change trajectory is influenced by several determinants in children and adults.
+BMGC_DS20075,BMG_DS077794,MeSH: Increase in body weight of the mother during the course of her PREGNANCY.
+BMGC_DS20076,BMG_DS077812,"MeSH: An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome."
+BMGC_DS20077,BMG_DS077813,MeSH: Damage to the EAR or its function secondary to exposure to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION.
+BMGC_DS20078,BMG_DS077814,MeSH: A progressive rare pulmonary disease characterized by high blood pressure in the PULMONARY ARTERY.
+BMGC_DS20079,BMG_DS077832,MeSH: The diminished or impaired mental and/or intellectual function associated with the chemical treatment of cancer.
+BMGC_DS20080,BMG_DS077833,"MeSH: An abnormal elevation of body temperature, usually as a result of inability to regulate core body temperature due to non-pathologic factors."
+BMGC_DS20081,BMG_DS077834,"MeSH: A type of mesothelioma with a tendency to metastasize.  Most tumors originate from either the PLEURA or PERITONEUM, tumors may also originate in the PERICARDIUM or testicular tissue. It is associated with ASBESTOS exposure. Somatic mutations identified in WT1, BCL10, CDKN2A, NF2, and BAP1 genes are associated with the malignancy. OMIM: 156240."
+BMGC_DS20082,BMG_DS077835,"MeSH: Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as a cold, allergy, OLFACTORY NERVE DISEASES, viral RESPIRATORY TRACT INFECTIONS (e.g., COVID-19), aging and various neurological disorders (e.g., ALZHEIMER DISEASE)."
+BMGC_DS20083,BMG_DS077836,MeSH: Excess nasal drainage.
+BMGC_DS20084,BMG_DS077876,"MeSH: A primary melanoma that originates from atypical skin MELANOCYTES, especially from acquired and congenital MELANOCYTIC NEVI, and DYSPLASTIC NEVI."
+BMGC_DS20085,BMG_DS077890,"MeSH: A rare, malignant MELANOMA arising from the melanocytes of the UVEA."
+BMGC_DS20086,BMG_DS077899,"MeSH: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)"
+BMGC_DS20087,BMG_DS077900,MeSH: Disturbances in the ACID-BASE EQUILIBRIUM of the body.
+BMGC_DS20088,BMG_DS077901,"MeSH: A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up."
+BMGC_DS20089,BMG_DS077902,"MONDO: Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. | MeSH: A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)"
+BMGC_DS20090,BMG_DS077904,"MeSH: An early local inflammatory reaction to insult or injury that consists of fever, an increase in inflammatory humoral factors, and an increased synthesis by hepatocytes of a number of proteins or glycoproteins usually found in the plasma."
+BMGC_DS20091,BMG_DS077905,MeSH: A malignant epithelial tumor with a glandular organization.
+BMGC_DS20092,BMG_DS077909,MeSH: A benign epithelial tumor with a glandular organization.
+BMGC_DS20093,BMG_DS077912,"MeSH: A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)"
+BMGC_DS20094,BMG_DS077913,MeSH: Pathological processes consisting of the union of the opposing surfaces of a wound.
+BMGC_DS20095,BMG_DS077914,MeSH: Tumors or cancers of the ADRENAL CORTEX.
+BMGC_DS20096,BMG_DS077915,"MeSH: Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS."
+BMGC_DS20097,BMG_DS077916,MeSH: Tumors or cancer of the ADRENAL GLANDS.
+BMGC_DS20098,BMG_DS077917,"MeSH: A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders."
+BMGC_DS20099,BMG_DS077921,"MeSH: Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS."
+BMGC_DS20100,BMG_DS077925,"MeSH: The presence of albumin in the urine, an indicator of KIDNEY DISEASES."
+BMGC_DS20101,BMG_DS077927,MeSH: An acute brain syndrome which results from the excessive ingestion of ETHANOL or ALCOHOLIC BEVERAGES.
+BMGC_DS20102,BMG_DS077928,"MeSH: A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)"
+BMGC_DS20103,BMG_DS077929,"MeSH: A state due to excess loss of carbon dioxide from the body. (Dorland, 27th ed)"
+BMGC_DS20104,BMG_DS077930,"MeSH: A common interstitial lung disease caused by hypersensitivity reactions of PULMONARY ALVEOLI after inhalation of and sensitization to environmental antigens of microbial, animal, or chemical sources. The disease is characterized by lymphocytic alveolitis and granulomatous pneumonitis."
+BMGC_DS20105,BMG_DS077931,"MeSH: An immature epithelial tumor of the JAW originating from the epithelial rests of Malassez or from other epithelial remnants of the ENAMEL from the developmental period. It is a slowly growing tumor, usually benign, but displays a marked propensity for invasive growth."
+BMGC_DS20106,BMG_DS077932,"MeSH: A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION."
+BMGC_DS20107,BMG_DS077933,MeSH: Absence of menstruation.
+BMGC_DS20108,BMG_DS077934,"MeSH: Pathologic partial or complete loss of the ability to recall past experiences (AMNESIA, RETROGRADE) or to form new memories (AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)"
+BMGC_DS20109,BMG_DS077935,"MeSH: Loss of the ability to recall information that had been previously encoded in memory prior to a specified or approximate point in time. This process may be organic or psychogenic in origin. Organic forms may be associated with CRANIOCEREBRAL TRAUMA; CEREBROVASCULAR ACCIDENTS; SEIZURES; DEMENTIA; and a wide variety of other conditions that impair cerebral function. (From Adams et al., Principles of Neurology, 6th ed, pp426-9)"
+BMGC_DS20110,BMG_DS077938,"MeSH: An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death."
+BMGC_DS20111,BMG_DS077939,MeSH: Loss of structural differentiation and useful function of neoplastic cells.
+BMGC_DS20112,BMG_DS077940,"MeSH: A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test."
+BMGC_DS20113,BMG_DS077941,"MeSH: Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)"
+BMGC_DS20114,BMG_DS077942,"MeSH: A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy."
+BMGC_DS20115,BMG_DS077943,"MeSH: Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells."
+BMGC_DS20116,BMG_DS077944,MeSH: Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.
+BMGC_DS20117,BMG_DS077945,"MeSH: A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)"
+BMGC_DS20118,BMG_DS077946,"MeSH: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1)."
+BMGC_DS20119,BMG_DS077947,"MeSH: Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics."
+BMGC_DS20120,BMG_DS077948,"MeSH: A tear in the inner layer of the AORTA leading to interstitial HEMORRHAGE, and splitting (dissecting) of the aortic TUNICA MEDIA layer. It typically begins with a tear in the TUNICA INTIMA layer."
+BMGC_DS20121,BMG_DS077949,"MeSH: The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION."
+BMGC_DS20122,BMG_DS077950,"MeSH: A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis."
+BMGC_DS20123,BMG_DS077951,"MeSH: Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx."
+BMGC_DS20124,BMG_DS077952,MeSH: A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.
+BMGC_DS20125,BMG_DS077953,MeSH: Fixation and immobility of a joint.
+BMGC_DS20126,BMG_DS077954,"MeSH: Congenital absence of the teeth. It may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), or six or more of the teeth (oligodontia) and both the deciduous and the permanent dentition, or only teeth of the permanent dentition."
+BMGC_DS20127,BMG_DS077956,MeSH: Congenital absence of the eye or eyes.
+BMGC_DS20128,BMG_DS077957,MeSH: Sub-optimal OXYGEN levels in the ambient air of living organisms.
+BMGC_DS20129,BMG_DS077958,"MeSH: An acute infection caused by the spore-forming bacteria BACILLUS ANTHRACIS. It commonly affects hoofed animals such as sheep and goats. Infection in humans often involves the skin (cutaneous anthrax), the lungs (inhalation anthrax), or the gastrointestinal tract. Anthrax is not contagious and can be treated with antibiotics."
+BMGC_DS20130,BMG_DS077959,MeSH: Tumors or cancer of the ANAL CANAL.
+BMGC_DS20131,BMG_DS077960,"MeSH: A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME."
+BMGC_DS20132,BMG_DS077961,MeSH: A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion.
+BMGC_DS20133,BMG_DS077962,MeSH: A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
+BMGC_DS20134,BMG_DS077963,"MeSH: A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA."
+BMGC_DS20135,BMG_DS077964,MeSH: A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE).
+BMGC_DS20136,BMG_DS077969,"MeSH: Complete loss of phonation due to organic disease of the larynx or to nonorganic (i.e., psychogenic) causes."
+BMGC_DS20137,BMG_DS077970,MeSH: A transient absence of spontaneous respiration.
+BMGC_DS20138,BMG_DS077974,"MONDO: Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine). | MeSH: A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed)"
+BMGC_DS20139,BMG_DS077976,"MeSH: A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)"
+BMGC_DS20140,BMG_DS077977,MeSH: Irregular HEART RATE caused by abnormal function of the SINOATRIAL NODE. It is characterized by a greater than 10% change between the maximum and the minimum sinus cycle length or 120 milliseconds.
+BMGC_DS20141,BMG_DS077980,"MONDO: OBSOLETE. Rare arteriovenous malformation. | MeSH: Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas."
+BMGC_DS20142,BMG_DS077981,MeSH: INFLAMMATION of any ARTERIES.
+BMGC_DS20143,BMG_DS077982,"MeSH: ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN."
+BMGC_DS20144,BMG_DS077983,MeSH: Persistent flexure or contracture of a joint.
+BMGC_DS20145,BMG_DS077986,"MeSH: A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life."
+BMGC_DS20146,BMG_DS077987,"MeSH: Clinical sign or symptom manifested as debility, or lack or loss of strength and energy."
+BMGC_DS20147,BMG_DS077989,"MeSH: Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)"
+BMGC_DS20148,BMG_DS077991,"MeSH: Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)."
+BMGC_DS20149,BMG_DS077992,"MeSH: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes."
+BMGC_DS20150,BMG_DS077993,"MeSH: Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech."
+BMGC_DS20151,BMG_DS077997,MeSH: The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the URINARY TRACT and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection.
+BMGC_DS20152,BMG_DS077999,"MeSH: Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant."
+BMGC_DS20153,BMG_DS078000,"MONDO: A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia."
+BMGC_DS20154,BMG_DS078002,MeSH: Tumors or cancer of the BILE DUCTS.
+BMGC_DS20155,BMG_DS078003,"MeSH: Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE."
+BMGC_DS20156,BMG_DS078005,MeSH: Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.
+BMGC_DS20157,BMG_DS078007,MeSH: The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
+BMGC_DS20158,BMG_DS078010,"MeSH: Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths."
+BMGC_DS20159,BMG_DS078012,"MeSH: Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands."
+BMGC_DS20160,BMG_DS078013,MeSH: Tumors or cancer of the URINARY BLADDER.
+BMGC_DS20161,BMG_DS078014,"MeSH: An advanced phase of chronic myelogenous leukemia, characterized by a rapid increase in the proportion of immature white blood cells (blasts) in the blood and bone marrow to greater than 30%."
+BMGC_DS20162,BMG_DS078016,MeSH: Visible accumulations of fluid within or beneath the epidermis.
+BMGC_DS20163,BMG_DS078019,MeSH: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
+BMGC_DS20164,BMG_DS078020,MeSH: A clinical manifestation consisting of alterations in an individual's weight from his or her norm.
+BMGC_DS20165,BMG_DS078021,MeSH: Tumors or cancer located in bone tissue or specific BONES.
+BMGC_DS20166,BMG_DS078022,MeSH: Bone loss due to osteoclastic activity.
+BMGC_DS20167,BMG_DS078023,"MeSH: A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)"
+BMGC_DS20168,BMG_DS078024,"MeSH: Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK."
+BMGC_DS20169,BMG_DS078026,"MeSH: A state of prolonged irreversible cessation of all brain activity, including lower brain stem function with the complete absence of voluntary movements, responses to stimuli, brain stem reflexes, and spontaneous respirations. Reversible conditions which mimic this clinical state (e.g., sedative overdose, hypothermia, etc.) are excluded prior to making the determination of brain death. (From Adams et al., Principles of Neurology, 6th ed, pp348-9)"
+BMGC_DS20170,BMG_DS078027,"MeSH: Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)"
+BMGC_DS20171,BMG_DS078028,"MONDO: Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. | MeSH: Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits."
+BMGC_DS20172,BMG_DS078029,"MeSH: Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain."
+BMGC_DS20173,BMG_DS078031,MeSH: Tumors or cancer of the human BREAST.
+BMGC_DS20174,BMG_DS078035,MeSH: Tumors or cancer of the BRONCHI.
+BMGC_DS20175,BMG_DS078039,MeSH: A disorder characterized by grinding and clenching of the teeth.
+BMGC_DS20176,BMG_DS078040,"MeSH: Eating an excess amount of food in a short period of time, as seen in the disorder of BULIMIA NERVOSA. It is caused by an abnormal craving for food, or insatiable hunger also known as ox hunger."
+BMGC_DS20177,BMG_DS078041,"MeSH: A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative."
+BMGC_DS20178,BMG_DS078043,"MONDO: A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. | MeSH: Injuries to tissues caused by contact with heat, steam, chemicals (BURNS, CHEMICAL), electricity (BURNS, ELECTRIC), or the like."
+BMGC_DS20179,BMG_DS078044,MeSH: Burns caused by contact with or exposure to CAUSTICS or strong ACIDS.
+BMGC_DS20180,BMG_DS078047,"MeSH: General ill health, malnutrition, and weight loss, usually associated with chronic disease."
+BMGC_DS20181,BMG_DS078049,"MONDO: Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis. | MeSH: Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis."
+BMGC_DS20182,BMG_DS078050,MeSH: Pathologic deposition of calcium salts in tissues.
+BMGC_DS20183,BMG_DS078051,"MeSH: An abnormal concretion occurring mostly in the urinary and biliary tracts, usually composed of mineral salts. Also called stones."
+BMGC_DS20184,BMG_DS078054,"MeSH: Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed)"
+BMGC_DS20185,BMG_DS078055,"MeSH: Infection of the mucous membranes of the mouth by a fungus of the genus CANDIDA. (Dorland, 27th ed)"
+BMGC_DS20186,BMG_DS078056,MeSH: Toxic asphyxiation due to the displacement of oxygen from oxyhemoglobin by carbon monoxide.
+BMGC_DS20187,BMG_DS078057,"MeSH: Poisoning that results from ingestion, injection, inhalation, or skin absorption of CARBON TETRACHLORIDE."
+BMGC_DS20188,BMG_DS078059,"MeSH: A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)"
+BMGC_DS20189,BMG_DS078060,MeSH: A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm and not a synonym for cancer.
+BMGC_DS20190,BMG_DS078061,"MeSH: A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane."
+BMGC_DS20191,BMG_DS078062,"MeSH: A transplantable carcinoma of the rat that originally appeared spontaneously in the mammary gland of a pregnant albino rat, and which now resembles a carcinoma in young transplants and a sarcoma in older transplants. (Stedman, 25th ed)"
+BMGC_DS20192,BMG_DS078063,"MeSH: A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)"
+BMGC_DS20193,BMG_DS078065,"MeSH: A carcinoma derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed)"
+BMGC_DS20194,BMG_DS078066,MeSH: Malignant neoplasm arising from the epithelium of the BRONCHI. It represents a large group of epithelial lung malignancies which can be divided into two clinical groups: SMALL CELL LUNG CANCER and NON-SMALL-CELL LUNG CARCINOMA.
+BMGC_DS20195,BMG_DS078068,"MeSH: A noninvasive (noninfiltrating) carcinoma of the breast characterized by a proliferation of malignant epithelial cells confined to the mammary ducts or lobules, without light-microscopy evidence of invasion through the basement membrane into the surrounding stroma."
+BMGC_DS20196,BMG_DS078069,"MeSH: A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms."
+BMGC_DS20197,BMG_DS078071,"MeSH: An adenocarcinoma producing mucin in significant amounts. (From Dorland, 27th ed)"
+BMGC_DS20198,BMG_DS078072,"MeSH: A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy."
+BMGC_DS20199,BMG_DS078073,"MeSH: A malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. (Stedman, 25th ed)"
+BMGC_DS20200,BMG_DS078074,"MeSH: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma."
+BMGC_DS20201,BMG_DS078076,"MeSH: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)"
+BMGC_DS20202,BMG_DS078077,"MeSH: A malignant neoplasm derived from TRANSITIONAL EPITHELIAL CELLS, occurring chiefly in the URINARY BLADDER; URETERS; or RENAL PELVIS."
+BMGC_DS20203,BMG_DS078078,"MeSH: A malignant neoplasm that contains elements of carcinoma and sarcoma so extensively intermixed as to indicate neoplasia of epithelial and mesenchymal tissue. (Stedman, 25th ed)"
+BMGC_DS20204,BMG_DS078079,"MeSH: A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities."
+BMGC_DS20205,BMG_DS078080,"MeSH: A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis."
+BMGC_DS20206,BMG_DS078082,"MeSH: A condition characterized by inactivity, decreased responsiveness to stimuli, and a tendency to maintain an immobile posture. The limbs tend to remain in whatever position they are placed (waxy flexibility). Catalepsy may be associated with PSYCHOTIC DISORDERS (e.g., SCHIZOPHRENIA, CATATONIC), nervous system drug toxicity, and other conditions."
+BMGC_DS20207,BMG_DS078083,MeSH: Tumors or cancer of the CECUM.
+BMGC_DS20208,BMG_DS078084,"MeSH: Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill."
+BMGC_DS20209,BMG_DS078087,"MeSH: Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord."
+BMGC_DS20210,BMG_DS078089,"MeSH: A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives."
+BMGC_DS20211,BMG_DS078090,MeSH: Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.
+BMGC_DS20212,BMG_DS078091,MeSH: Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.
+BMGC_DS20213,BMG_DS078093,"MeSH: Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE."
+BMGC_DS20214,BMG_DS078095,MeSH: Tumors or cancer of the UTERINE CERVIX.
+BMGC_DS20215,BMG_DS078098,"MONDO: An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual. | MeSH: Increased levels of PROLACTIN in the BLOOD, which may be associated with AMENORRHEA and GALACTORRHEA. Relatively common etiologies include PROLACTINOMA, medication effect, KIDNEY FAILURE, granulomatous diseases of the PITUITARY GLAND, and disorders which interfere with the hypothalamic inhibition of prolactin release. Ectopic (non-pituitary) production of prolactin may also occur. (From Joynt, Clinical Neurology, 1992, Ch36, pp77-8) | MeSH: A POSTPARTUM condition consists of persistent lactation (GALACTORRHEA) and AMENORRHEA in patients not BREAST FEEDING.
+    "
+BMGC_DS20216,BMG_DS078100,"MONDO: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)"
+BMGC_DS20217,BMG_DS078102,"MeSH: A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous."
+BMGC_DS20218,BMG_DS078103,MeSH: A benign tumor of the intrahepatic bile ducts.
+BMGC_DS20219,BMG_DS078104,"MeSH: A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)"
+BMGC_DS20220,BMG_DS078105,"MeSH: A benign neoplasm derived from mesodermal cells that form cartilage. It may remain within the substance of a cartilage or bone (true chondroma or enchondroma) or may develop on the surface of a cartilage (ecchondroma or ecchondrosis). (Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS20221,BMG_DS078106,"MeSH: A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)"
+BMGC_DS20222,BMG_DS078107,"MeSH: A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed)"
+BMGC_DS20223,BMG_DS078112,MeSH: Hemorrhage from the vessels of the choroid.
+BMGC_DS20224,BMG_DS078113,MeSH: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
+BMGC_DS20225,BMG_DS078114,MeSH: Actual loss of portion of a chromosome.
+BMGC_DS20226,BMG_DS078115,MeSH: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
+BMGC_DS20227,BMG_DS078117,MeSH: Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
+BMGC_DS20228,BMG_DS078118,"MeSH: Congenital fissure of the soft and/or hard palate, due to faulty fusion."
+BMGC_DS20229,BMG_DS078119,"MeSH: A deformed foot in which the foot is plantarflexed, inverted, and adducted."
+BMGC_DS20230,BMG_DS078124,MeSH: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
+BMGC_DS20231,BMG_DS078125,MeSH: Tumors or cancer of the COLON.
+BMGC_DS20232,BMG_DS078126,"MeSH: Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base."
+BMGC_DS20233,BMG_DS078128,"MeSH: Disorders of verbal and nonverbal communication caused by receptive or expressive LANGUAGE DISORDERS, cognitive dysfunction (e.g., MENTAL RETARDATION), psychiatric conditions, and HEARING DISORDERS."
+BMGC_DS20234,BMG_DS078129,"MeSH: Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE. FASCIOTOMY is often used to decompress increased pressure and eliminate pain associated with compartment syndromes."
+BMGC_DS20235,BMG_DS078130,"MeSH: A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation."
+BMGC_DS20236,BMG_DS078134,MeSH: Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition.
+BMGC_DS20237,BMG_DS078135,"MeSH: Infrequent or difficult evacuation of FECES. These symptoms are associated with a variety of causes, including low DIETARY FIBER intake, emotional or nervous disturbances, systemic and structural disorders, drug-induced aggravation, and infections."
+BMGC_DS20238,BMG_DS078136,MeSH: The condition of an anatomical structure's being constricted beyond normal dimensions.
+BMGC_DS20239,BMG_DS078137,"MONDO: OBSOLETE. Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. | MeSH: Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint."
+BMGC_DS20240,BMG_DS078141,MeSH: Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.
+BMGC_DS20241,BMG_DS078142,MeSH: An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
+BMGC_DS20242,BMG_DS078143,"MeSH: Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others."
+BMGC_DS20243,BMG_DS078144,"MeSH: A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs."
+BMGC_DS20244,BMG_DS078147,"MeSH: A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50)"
+BMGC_DS20245,BMG_DS078148,MeSH: A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.
+BMGC_DS20246,BMG_DS078151,MeSH: A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis.
+BMGC_DS20247,BMG_DS078152,MeSH: A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
+BMGC_DS20248,BMG_DS078153,"MeSH: Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)"
+BMGC_DS20249,BMG_DS078155,"MeSH: A benign neoplasm derived from glandular epithelium, in which cystic accumulations of retained secretions are formed. In some instances, considerable portions of the neoplasm, or even the entire mass, may be cystic. (Stedman, 25th ed)"
+BMGC_DS20250,BMG_DS078156,"MeSH: A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known."
+BMGC_DS20251,BMG_DS078157,"MeSH: Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues."
+BMGC_DS20252,BMG_DS078158,"MeSH: Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning."
+BMGC_DS20253,BMG_DS078159,"MeSH: Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions."
+BMGC_DS20254,BMG_DS078160,"MeSH: The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions."
+BMGC_DS20255,BMG_DS078162,"MeSH: An ulceration caused by prolonged pressure on the SKIN and TISSUES when one stays in one position for a long period of time, such as lying in bed. The bony areas of the body are the most frequently affected sites which become ischemic (ISCHEMIA) under sustained and constant pressure."
+BMGC_DS20256,BMG_DS078163,"MeSH: A disorder characterized by CONFUSION; inattentiveness; disorientation; ILLUSIONS; HALLUCINATIONS; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)"
+BMGC_DS20257,BMG_DS078164,"MeSH: An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness."
+BMGC_DS20258,BMG_DS078171,"MeSH: The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)"
+BMGC_DS20259,BMG_DS078173,"MeSH: A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs."
+BMGC_DS20260,BMG_DS078174,MeSH: Diabetes mellitus induced experimentally by administration of various diabetogenic agents or by PANCREATECTOMY.
+BMGC_DS20261,BMG_DS078177,"MeSH: An increased liquidity or decreased consistency of FECES, such as running stool. Fecal consistency is related to the ratio of water-holding capacity of insoluble solids to total water, rather than the amount of water present. Diarrhea is not hyperdefecation or increased fecal weight."
+BMGC_DS20262,BMG_DS078178,MeSH: DIARRHEA occurring in infants from newborn to 24-months old.
+BMGC_DS20263,BMG_DS078179,"MeSH: A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites."
+BMGC_DS20264,BMG_DS078181,MeSH: Congenital structural abnormalities of the DIGESTIVE SYSTEM.
+BMGC_DS20265,BMG_DS078182,MeSH: Tumors or cancer of the DIGESTIVE SYSTEM.
+BMGC_DS20266,BMG_DS078183,MeSH: The condition of an anatomical structure's being dilated beyond normal dimensions.
+BMGC_DS20267,BMG_DS078185,MeSH: Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases.
+BMGC_DS20268,BMG_DS078186,MeSH: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.
+BMGC_DS20269,BMG_DS078189,"MeSH: An imprecise term which may refer to a sense of spatial disorientation, motion of the environment, or lightheadedness."
+BMGC_DS20270,BMG_DS078191,MeSH: Immunologically mediated adverse reactions to medicinal substances used legally or illegally.
+BMGC_DS20271,BMG_DS078192,"MeSH: A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth."
+BMGC_DS20272,BMG_DS078194,"MeSH: A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development."
+BMGC_DS20273,BMG_DS078195,"MeSH: Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)"
+BMGC_DS20274,BMG_DS078197,"MeSH: A condition characterized by alterations of the sense of taste which may range from mild to severe, including gross distortions of taste quality."
+BMGC_DS20275,BMG_DS078198,"MeSH: A cognitive disorder characterized by an impaired ability to comprehend written and printed words or phrases despite intact vision. This condition may be developmental or acquired. Developmental dyslexia is marked by reading achievement that falls substantially below that expected given the individual's chronological age, measured intelligence, and age-appropriate education. The disturbance in reading significantly interferes with academic achievement or with activities of daily living that require reading skills. (From DSM-IV)"
+BMGC_DS20276,BMG_DS078201,"MeSH: Impaired digestion, especially after eating."
+BMGC_DS20277,BMG_DS078203,MeSH: Difficult or labored breathing.
+BMGC_DS20278,BMG_DS078204,MeSH: Slow or difficult OBSTETRIC LABOR or CHILDBIRTH.
+BMGC_DS20279,BMG_DS078205,"MeSH: An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)"
+BMGC_DS20280,BMG_DS078207,"MONDO: A malignant neoplasm involving the auditory system | MeSH: Tumors or cancer of any part of the hearing and equilibrium system of the body (the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR)."
+BMGC_DS20281,BMG_DS078209,"MeSH: A congenital heart defect characterized by downward or apical displacement of the TRICUSPID VALVE, usually with the septal and posterior leaflets being attached to the wall of the RIGHT VENTRICLE. It is characterized by a huge RIGHT ATRIUM and a small and less effective right ventricle."
+BMGC_DS20282,BMG_DS078212,MeSH: Congenital displacement of the lens resulting from defective zonule formation.
+BMGC_DS20283,BMG_DS078213,"MeSH: Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia."
+BMGC_DS20284,BMG_DS078214,MeSH: Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE.
+BMGC_DS20285,BMG_DS078215,"MeSH: Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)."
+BMGC_DS20286,BMG_DS078217,MeSH: Clinical manifestation of excessive LEANNESS usually caused by disease or a lack of nutrition (MALNUTRITION).
+BMGC_DS20287,BMG_DS078218,MeSH: Blocking of a blood vessel by an embolus which can be a blood clot or other undissolved material in the blood stream.
+BMGC_DS20288,BMG_DS078222,MeSH: A pathological accumulation of air in tissues or organs.
+BMGC_DS20289,BMG_DS078224,"MeSH: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur."
+BMGC_DS20290,BMG_DS078227,"MeSH: A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves."
+BMGC_DS20291,BMG_DS078229,"MeSH: A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)."
+BMGC_DS20292,BMG_DS078231,"MeSH: Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)"
+BMGC_DS20293,BMG_DS078233,"MeSH: An autosomal recessive trait with impaired cell-mediated immunity. About 15 human papillomaviruses are implicated in associated infection, four of which lead to skin neoplasms. The disease begins in childhood with red papules and later spreads over the body as gray or yellow scales."
+BMGC_DS20294,BMG_DS078234,"MeSH: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties."
+BMGC_DS20295,BMG_DS078236,MeSH: Bleeding from the nose.
+BMGC_DS20296,BMG_DS078242,MeSH: A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.
+BMGC_DS20297,BMG_DS078243,MeSH: Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA.
+BMGC_DS20298,BMG_DS078247,MeSH: Tumors or cancer of the ESOPHAGUS.
+BMGC_DS20299,BMG_DS078249,"MeSH: Diseases in which skin eruptions or rashes are a prominent manifestation. Classically, six such diseases were described with similar rashes; they were numbered in the order in which they were reported. Only the fourth (Duke's disease), fifth (ERYTHEMA INFECTIOSUM), and sixth (EXANTHEMA SUBITUM) numeric designations survive as occasional synonyms in current terminology."
+BMGC_DS20300,BMG_DS078250,"MeSH: Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation."
+BMGC_DS20301,BMG_DS078251,MeSH: The escape of diagnostic or therapeutic material from the vessel into which it is introduced into the surrounding tissue or body cavity.
+BMGC_DS20302,BMG_DS078252,MeSH: Congenital absence of or defects in structures of the eye; may also be hereditary.
+BMGC_DS20303,BMG_DS078253,"MeSH: Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation."
+BMGC_DS20304,BMG_DS078254,MeSH: Diseases affecting the eye.
+BMGC_DS20305,BMG_DS078256,MeSH: Intraocular hemorrhage from the vessels of various tissues of the eye.
+BMGC_DS20306,BMG_DS078257,MeSH: Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries.
+BMGC_DS20307,BMG_DS078258,MeSH: Ocular disorders attendant upon non-ocular disease or injury.
+BMGC_DS20308,BMG_DS078259,MeSH: Tumors or cancer of the EYE.
+BMGC_DS20309,BMG_DS078261,MeSH: Congenital or acquired asymmetry of the face.
+BMGC_DS20310,BMG_DS078262,MeSH: General or unspecified injuries to the soft tissue or bony portions of the face.
+BMGC_DS20311,BMG_DS078264,"MeSH: Pain in the facial region including orofacial pain and craniofacial pain. Associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves. Conditions which feature recurrent or persistent facial pain as the primary manifestation of disease are referred to as FACIAL PAIN SYNDROMES."
+BMGC_DS20312,BMG_DS078265,"MeSH: A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)"
+BMGC_DS20313,BMG_DS078266,"MeSH: A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia."
+BMGC_DS20314,BMG_DS078267,MeSH: A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood clot formation and results in a clinical hemorrhagic diathesis.
+BMGC_DS20315,BMG_DS078269,"MeSH: Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations may be visualized as a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)"
+BMGC_DS20316,BMG_DS078271,"MeSH: The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli."
+BMGC_DS20317,BMG_DS078274,"MeSH: Development of female secondary SEX CHARACTERISTICS in the MALE. It is due to the effects of estrogenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs."
+BMGC_DS20318,BMG_DS078275,MeSH: Fractures of the femur.
+BMGC_DS20319,BMG_DS078278,MeSH: Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.
+BMGC_DS20320,BMG_DS078279,MeSH: A nonreassuring fetal status (NRFS) indicating that the FETUS is compromised (American College of Obstetricians and Gynecologists 1988). It can be identified by sub-optimal values in FETAL HEART RATE; oxygenation of FETAL BLOOD; and other parameters.
+BMGC_DS20321,BMG_DS078280,MeSH: Failure of a FETUS to attain expected GROWTH.
+BMGC_DS20322,BMG_DS078281,"MeSH: A condition of fetal overgrowth defined as BIRTH WEIGHT greater than 4,000 grams, regardless of gestational age. It is commonly seen in GESTATIONAL DIABETES; PROLONGED PREGNANCY; and pregnancies complicated by pre-existing diabetes mellitus."
+BMGC_DS20323,BMG_DS078284,"MeSH: An abnormal elevation of body temperature, usually as a result of a pathologic process."
+BMGC_DS20324,BMG_DS078286,MeSH: A benign tumor of fibrous or fully developed connective tissue.
+BMGC_DS20325,BMG_DS078288,"MeSH: A sarcoma derived from deep fibrous tissue, characterized by bundles of immature proliferating fibroblasts with variable collagen formation, which tends to invade locally and metastasize by the bloodstream. (Stedman, 25th ed)"
+BMGC_DS20326,BMG_DS078289,MeSH: General or unspecified injuries involving the fingers.
+BMGC_DS20327,BMG_DS078290,"MeSH: Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body."
+BMGC_DS20328,BMG_DS078292,MeSH: Anomaly in which one or more of the arches of the feet are flat.
+BMGC_DS20329,BMG_DS078294,"MeSH: Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of FLUORIDE compounds."
+BMGC_DS20330,BMG_DS078295,"MeSH: A transient reddening of the face that may be due to fever, certain drugs, exertion, or stress."
+BMGC_DS20331,BMG_DS078297,MeSH: Cyst due to the occlusion of the duct of a follicle or small gland.
+BMGC_DS20332,BMG_DS078298,"MeSH: Acute illnesses, usually affecting the GASTROINTESTINAL TRACT, brought on by consuming contaminated food or beverages. Most of these diseases are infectious, caused by a variety of bacteria, viruses, or parasites that can be foodborne. Sometimes the diseases are caused by harmful toxins from the microbes or other chemicals present in the food. Especially in the latter case, the condition is often called food poisoning."
+BMGC_DS20333,BMG_DS078301,MeSH: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
+BMGC_DS20334,BMG_DS078305,MeSH: Chronic inflammation and granuloma formation around irritating foreign bodies.
+BMGC_DS20335,BMG_DS078307,MeSH: Fractures in which the break in bone is not accompanied by an external wound.
+BMGC_DS20336,BMG_DS078312,"MeSH: An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet."
+BMGC_DS20337,BMG_DS078316,MeSH: Tumors or cancer of the gallbladder.
+BMGC_DS20338,BMG_DS078318,MeSH: Poisoning that results from exposure to gases such as CARBON MONOXIDE; NOBLE GASES; OXYGEN; or NATURAL GAS.
+BMGC_DS20339,BMG_DS078319,MeSH: Abnormal passage communicating with the STOMACH.
+BMGC_DS20340,BMG_DS078320,"MeSH: Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER."
+BMGC_DS20341,BMG_DS078321,"MeSH: Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL."
+BMGC_DS20342,BMG_DS078322,"MeSH: Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)."
+BMGC_DS20343,BMG_DS078325,"MeSH: Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A."
+BMGC_DS20344,BMG_DS078326,"MeSH: A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)"
+BMGC_DS20345,BMG_DS078327,"MeSH: The flowing of blood from the marginal gingival area, particularly the sulcus, seen in such conditions as GINGIVITIS, marginal PERIODONTITIS, injury, and ASCORBIC ACID DEFICIENCY."
+BMGC_DS20346,BMG_DS078328,"MeSH: Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski's Dictionary of Dentistry, 1992, p400)"
+BMGC_DS20347,BMG_DS078331,"MeSH: Exposure of the root surface when the edge of the gum (GINGIVA) moves apically away from the crown of the tooth. This is common with advancing age, vigorous tooth brushing, diseases, or tissue loss of the gingiva, the PERIODONTAL LIGAMENT and the supporting bone (ALVEOLAR PROCESS)."
+BMGC_DS20348,BMG_DS078332,"MeSH: A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures."
+BMGC_DS20349,BMG_DS078333,"MeSH: Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21)"
+BMGC_DS20350,BMG_DS078334,"MeSH: The production of a dense fibrous network of neuroglia; includes astrocytosis, which is a proliferation of astrocytes in the area of a degenerative lesion."
+BMGC_DS20351,BMG_DS078337,"MeSH: Painful sensations in the tongue, including a sensation of burning."
+BMGC_DS20352,BMG_DS078338,MeSH: An almost always malignant GLUCAGON-secreting tumor derived from the PANCREATIC ALPHA CELLS. It is characterized by a distinctive migratory ERYTHEMA; WEIGHT LOSS; STOMATITIS; GLOSSITIS; DIABETES MELLITUS; hypoaminoacidemia; and normochromic normocytic ANEMIA.
+BMGC_DS20353,BMG_DS078339,"MeSH: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia."
+BMGC_DS20354,BMG_DS078340,"MeSH: The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA)."
+BMGC_DS20355,BMG_DS078341,MeSH: An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene.
+BMGC_DS20356,BMG_DS078343,"MeSH: A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis."
+BMGC_DS20357,BMG_DS078344,MeSH: Obstruction of flow in biological or prosthetic vascular grafts.
+BMGC_DS20358,BMG_DS078345,"MeSH: A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents."
+BMGC_DS20359,BMG_DS078346,MeSH: A slow-growing benign pseudotumor in which plasma cells greatly outnumber the inflammatory cells.
+BMGC_DS20360,BMG_DS078347,"MeSH: A neoplasm composed entirely of GRANULOSA CELLS, occurring mostly in the OVARY. In the adult form, it may contain some THECA CELLS. This tumor often produces ESTRADIOL and INHIBIN. The excess estrogen exposure can lead to other malignancies in women and PRECOCIOUS PUBERTY in girls. In rare cases, granulosa cell tumors have been identified in the TESTES."
+BMGC_DS20361,BMG_DS078348,"MeSH: Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth."
+BMGC_DS20362,BMG_DS078349,"MeSH: An offensive, foul breath odor resulting from a variety of causes such as poor oral hygiene, dental or oral infections, or the ingestion of certain foods."
+BMGC_DS20363,BMG_DS078350,"MeSH: Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organic origin or associated with MENTAL DISORDERS."
+BMGC_DS20364,BMG_DS078352,"MeSH: A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area."
+BMGC_DS20365,BMG_DS078355,MeSH: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
+BMGC_DS20366,BMG_DS078357,"MeSH: Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS."
+BMGC_DS20367,BMG_DS078358,"MeSH: Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)"
+BMGC_DS20368,BMG_DS078359,"MeSH: Traumatic injuries involving the cranium and intracranial structures (i.e., BRAIN; CRANIAL NERVES; MENINGES; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage."
+BMGC_DS20369,BMG_DS078360,MeSH: The symptom of PAIN in the cranial region. It may be an isolated benign occurrence or manifestation of a wide variety of HEADACHE DISORDERS.
+BMGC_DS20370,BMG_DS078361,MeSH: Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
+BMGC_DS20371,BMG_DS078363,MeSH: Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz.
+BMGC_DS20372,BMG_DS078364,MeSH: Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
+BMGC_DS20373,BMG_DS078365,MeSH: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
+BMGC_DS20374,BMG_DS078366,"MeSH: Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES."
+BMGC_DS20375,BMG_DS078367,MeSH: General or unspecified injuries to the heart.
+BMGC_DS20376,BMG_DS078369,"MeSH: Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both."
+BMGC_DS20377,BMG_DS078370,"MeSH: Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects."
+BMGC_DS20378,BMG_DS078371,"MeSH: Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect."
+BMGC_DS20379,BMG_DS078372,MeSH: Pathological conditions involving any of the various HEART VALVES and the associated structures (PAPILLARY MUSCLES and CHORDAE TENDINEAE).
+BMGC_DS20380,BMG_DS078373,"MeSH: Substernal pain or burning sensation, usually associated with regurgitation of gastric juice into the esophagus."
+BMGC_DS20381,BMG_DS078376,"MeSH: A neoplasm derived from blood vessels, characterized by numerous prominent endothelial cells that occur singly, in aggregates, and as the lining of congeries of vascular tubes or channels. Hemangioendotheliomas are relatively rare and are of intermediate malignancy (between benign hemangiomas and conventional angiosarcomas). They affect men and women about equally and rarely develop in childhood. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1866)"
+BMGC_DS20382,BMG_DS078377,"MeSH: A vascular anomaly due to proliferation of BLOOD VESSELS that forms a tumor-like mass. The common types involve CAPILLARIES and VEINS. It can occur anywhere in the body but is most frequently noticed in the SKIN and SUBCUTANEOUS TISSUE. (from Stedman, 27th ed, 2000)"
+BMGC_DS20383,BMG_DS078379,"MeSH: A tumor composed of spindle cells with a rich vascular network, which apparently arises from pericytes, cells of smooth muscle origin that lie around small vessels. Benign and malignant hemangiopericytomas exist, and the rarity of these lesions has led to considerable confusion in distinguishing between benign and malignant variants. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1364)"
+BMGC_DS20384,BMG_DS078380,"MeSH: A rare malignant neoplasm characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and lining irregular blood-filled or lumpy spaces. (Stedman, 25th ed)"
+BMGC_DS20385,BMG_DS078382,"MeSH: Vomiting of blood that is either fresh bright red, or older coffee-ground in character. It generally indicates bleeding of the UPPER GASTROINTESTINAL TRACT."
+BMGC_DS20386,BMG_DS078384,"MeSH: A collection of blood outside the BLOOD VESSELS. Hematoma can be localized in an organ, space, or tissue."
+BMGC_DS20387,BMG_DS078385,"MeSH: Accumulation of blood in the EPIDURAL SPACE between the SKULL and the DURA MATER, often as a result of bleeding from the MENINGEAL ARTERIES associated with a temporal or parietal bone fracture. Epidural hematoma tends to expand rapidly, compressing the dura and underlying brain. Clinical features may include HEADACHE; VOMITING; HEMIPARESIS; and impaired mental function."
+BMGC_DS20388,BMG_DS078386,"MeSH: Accumulation of blood in the SUBDURAL SPACE between the DURA MATER and the arachnoidal layer of the MENINGES. This condition primarily occurs over the surface of a CEREBRAL HEMISPHERE, but may develop in the spinal canal (HEMATOMA, SUBDURAL, SPINAL). Subdural hematoma can be classified as the acute or the chronic form, with immediate or delayed symptom onset, respectively. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status."
+BMGC_DS20389,BMG_DS078389,"MeSH: The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine."
+BMGC_DS20390,BMG_DS078390,"MeSH: The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity."
+BMGC_DS20391,BMG_DS078391,MeSH: Accumulations of blood in the PERITONEAL CAVITY due to internal HEMORRHAGE.
+BMGC_DS20392,BMG_DS078393,MeSH: Bleeding or escape of blood from a vessel.
+BMGC_DS20393,BMG_DS078395,"MeSH: Excess blood loss from uterine bleeding associated with OBSTETRIC LABOR or CHILDBIRTH. It is defined as blood loss greater than 500 ml or of the amount that adversely affects the maternal physiology, such as BLOOD PRESSURE and HEMATOCRIT. Postpartum hemorrhage is divided into two categories, immediate (within first 24 hours after birth) or delayed (after 24 hours postpartum)."
+BMGC_DS20394,BMG_DS078396,MeSH: Hemorrhage within the pleural cavity.
+BMGC_DS20395,BMG_DS078397,"MeSH: A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested."
+BMGC_DS20396,BMG_DS078398,MeSH: Enlargement of the liver.
+BMGC_DS20397,BMG_DS078400,MeSH: Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.
+BMGC_DS20398,BMG_DS078404,"MONDO: OBSOLETE. A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. | MeSH: A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention."
+BMGC_DS20399,BMG_DS078406,"MeSH: Strong dependence or addiction, both physiological and emotional, upon HEROIN."
+BMGC_DS20400,BMG_DS078407,"MeSH: A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.)"
+BMGC_DS20401,BMG_DS078409,MeSH: A spasm of the diaphragm that causes a sudden inhalation followed by rapid closure of the glottis which produces a sound.
+BMGC_DS20402,BMG_DS078414,"MONDO: Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side. | MeSH: Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)."
+BMGC_DS20403,BMG_DS078415,"MeSH: An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions."
+BMGC_DS20404,BMG_DS078416,MeSH: Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV).
+BMGC_DS20405,BMG_DS078418,"MONDO: Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. | MeSH: A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen."
+BMGC_DS20406,BMG_DS078420,"MeSH: Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype."
+BMGC_DS20407,BMG_DS078421,"MeSH: A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities."
+BMGC_DS20408,BMG_DS078422,"MeSH: A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)"
+BMGC_DS20409,BMG_DS078424,MeSH: Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.
+BMGC_DS20410,BMG_DS078427,MeSH: An increased sensation of pain or discomfort produced by minimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve.
+BMGC_DS20411,BMG_DS078428,MeSH: A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood.
+BMGC_DS20412,BMG_DS078430,MeSH: Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli.
+BMGC_DS20413,BMG_DS078431,"MeSH: Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise."
+BMGC_DS20414,BMG_DS078432,"MeSH: Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)"
+BMGC_DS20415,BMG_DS078433,MeSH: Ingestion of a greater than optimal quantity of food.
+BMGC_DS20416,BMG_DS078434,"MeSH: An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells."
+BMGC_DS20417,BMG_DS078435,"MeSH: Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen."
+BMGC_DS20418,BMG_DS078436,MeSH: An increased reactivity to specific antigens mediated not by antibodies but by sensitized T CELLS.
+BMGC_DS20419,BMG_DS078437,MeSH: Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability.
+BMGC_DS20420,BMG_DS078438,"MONDO: OBSOLETE. A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism). | MeSH: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid."
+BMGC_DS20421,BMG_DS078439,"MeSH: Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more."
+BMGC_DS20422,BMG_DS078440,"MeSH: Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES."
+BMGC_DS20423,BMG_DS078441,"MeSH: Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN."
+BMGC_DS20424,BMG_DS078442,"MeSH: General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA)."
+BMGC_DS20425,BMG_DS078443,"MeSH: A pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. It is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. It causes an excess intake of oxygen and the blowing off of carbon dioxide."
+BMGC_DS20426,BMG_DS078444,MeSH: Absent or reduced sensitivity to cutaneous stimulation.
+BMGC_DS20427,BMG_DS078445,MeSH: Bleeding in the anterior chamber of the eye.
+BMGC_DS20428,BMG_DS078446,"MeSH: Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)"
+BMGC_DS20429,BMG_DS078448,"MeSH: A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA."
+BMGC_DS20430,BMG_DS078449,MeSH: Abnormally low BLOOD PRESSURE that can result in inadequate blood flow to the brain and other vital organs. Common symptom is DIZZINESS but greater negative impacts on the body occur when there is prolonged depravation of oxygen and nutrients.
+BMGC_DS20431,BMG_DS078451,"MeSH: Lower than normal body temperature, especially in warm-blooded animals."
+BMGC_DS20432,BMG_DS078452,MeSH: A reduction in the amount of air entering the pulmonary alveoli.
+BMGC_DS20433,BMG_DS078456,"MeSH: A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly."
+BMGC_DS20434,BMG_DS078457,MeSH: Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.
+BMGC_DS20435,BMG_DS078459,MeSH: The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction.
+BMGC_DS20436,BMG_DS078460,"MeSH: A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages."
+BMGC_DS20437,BMG_DS078462,"MeSH: Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts."
+BMGC_DS20438,BMG_DS078463,"MeSH: Formation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS."
+BMGC_DS20439,BMG_DS078464,MeSH: Invasion of the host organism by microorganisms or their toxins or by parasites that can cause pathological conditions or diseases.
+BMGC_DS20440,BMG_DS078465,MeSH: A reduced or absent capacity to reproduce.
+BMGC_DS20441,BMG_DS078466,MeSH: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
+BMGC_DS20442,BMG_DS078467,"MeSH: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function."
+BMGC_DS20443,BMG_DS078468,MeSH: Bites and stings inflicted by insects.
+BMGC_DS20444,BMG_DS078469,MeSH: Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
+BMGC_DS20445,BMG_DS078470,MeSH: A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.
+BMGC_DS20446,BMG_DS078471,MeSH: Tumors or cancer of the INTESTINES.
+BMGC_DS20447,BMG_DS078472,"MeSH: Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base."
+BMGC_DS20448,BMG_DS078473,"MeSH: Complications that affect patients during surgery. They may or may not be associated with the disease for which the surgery is done, or within the same surgical procedure."
+BMGC_DS20449,BMG_DS078475,"MeSH: A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION."
+BMGC_DS20450,BMG_DS078476,"MeSH: A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM."
+BMGC_DS20451,BMG_DS078477,MeSH: Congenital absence of or defects in structures of the jaw.
+BMGC_DS20452,BMG_DS078482,MeSH: Lack of stability of a joint or joint prosthesis.
+BMGC_DS20453,BMG_DS078484,"MeSH: A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)"
+BMGC_DS20454,BMG_DS078485,"MeSH: A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues."
+BMGC_DS20455,BMG_DS078486,"MeSH: A form of herpetic keratitis characterized by the formation of small vesicles which break down and coalesce to form recurring dendritic ulcers, characteristically irregular, linear, branching, and ending in knoblike extremities. (Dictionary of Visual Science, 3d ed)"
+BMGC_DS20456,BMG_DS078487,"MeSH: A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption."
+BMGC_DS20457,BMG_DS078488,"MeSH: Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE."
+BMGC_DS20458,BMG_DS078489,MeSH: Tumors or cancers of the KIDNEY.
+BMGC_DS20459,BMG_DS078493,MeSH: Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
+BMGC_DS20460,BMG_DS078495,"MeSH: Onset of OBSTETRIC LABOR before term (TERM BIRTH) but usually after the FETUS has become viable. In humans, it occurs sometime during the 29th through 38th week of PREGNANCY. TOCOLYSIS inhibits premature labor and can prevent the BIRTH of premature infants (INFANT, PREMATURE)."
+BMGC_DS20461,BMG_DS078496,MeSH: Pathological processes of the inner ear (LABYRINTH) which contains the essential apparatus of hearing (COCHLEA) and balance (SEMICIRCULAR CANALS).
+BMGC_DS20462,BMG_DS078497,"MeSH: Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250)"
+BMGC_DS20463,BMG_DS078498,MONDO: A departure from the normal gait in animals. | MeSH: A departure from the normal gait in animals.
+BMGC_DS20464,BMG_DS078499,MeSH: Conditions characterized by deficiencies of comprehension or expression of written and spoken forms of language. These include acquired and developmental disorders.
+BMGC_DS20465,BMG_DS078500,"MeSH: Abnormal accumulation of fluid in tissues of any part of the LARYNX, commonly associated with laryngeal injuries and allergic reactions."
+BMGC_DS20466,BMG_DS078501,MeSH: Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.
+BMGC_DS20467,BMG_DS078503,"MONDO: 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs. | MeSH: Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of LEAD or lead compounds."
+BMGC_DS20468,BMG_DS078504,"MeSH: Conditions characterized by a significant discrepancy between an individual's perceived level of intellect and their ability to acquire new language and other cognitive skills. These may result from organic or psychological conditions. Relatively common subtypes include DYSLEXIA, DYSCALCULIA, and DYSGRAPHIA."
+BMGC_DS20469,BMG_DS078507,"MeSH: A particular type of FEMUR HEAD NECROSIS occurring in children, mainly male, with a course of four years or so."
+BMGC_DS20470,BMG_DS078508,"MeSH: A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues."
+BMGC_DS20471,BMG_DS078509,"MeSH: A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)"
+BMGC_DS20472,BMG_DS078510,"MeSH: A disease characterized by the chronic, progressive spread of lesions from New World cutaneous leishmaniasis caused by species of the L. braziliensis complex to the nasal, pharyngeal, and buccal mucosa some time after the appearance of the initial cutaneous lesion. Nasal obstruction and epistaxis are frequent presenting symptoms."
+BMGC_DS20473,BMG_DS078511,"MeSH: A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)"
+BMGC_DS20474,BMG_DS078512,MeSH: An experimental LYMPHOCYTIC LEUKEMIA of mice.
+BMGC_DS20475,BMG_DS078515,"MeSH: Leukemia induced experimentally in animals by exposure to leukemogenic agents, such as VIRUSES; RADIATION; or by TRANSPLANTATION of leukemic tissues."
+BMGC_DS20476,BMG_DS078516,"MeSH: A neoplastic disease of the lymphoreticular cells which is considered to be a rare type of chronic leukemia; it is characterized by an insidious onset, splenomegaly, anemia, granulocytopenia, thrombocytopenia, little or no lymphadenopathy, and the presence of hairy or flagellated cells in the blood and bone marrow."
+BMGC_DS20477,BMG_DS078517,MeSH: Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts.
+BMGC_DS20478,BMG_DS078519,MeSH: An acute myeloid leukemia in which 20-30% of the bone marrow or peripheral blood cells are of megakaryocyte lineage. MYELOFIBROSIS or increased bone marrow RETICULIN is common.
+BMGC_DS20479,BMG_DS078520,"MeSH: An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES."
+BMGC_DS20480,BMG_DS078521,MeSH: Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites.
+BMGC_DS20481,BMG_DS078523,MeSH: Leukemia produced by exposure to IONIZING RADIATION or NON-IONIZING RADIATION.
+BMGC_DS20482,BMG_DS078525,"MeSH: A white patch seen on the oral mucosa. It is considered a premalignant condition and is often tobacco-induced. When evidence of Epstein-Barr virus is present, the condition is called hairy leukoplakia (LEUKOPLAKIA, HAIRY)."
+BMGC_DS20483,BMG_DS078528,"MeSH: Gonadal interstitial or stromal cell neoplasm composed of only LEYDIG CELLS. These tumors may produce one or more of the steroid hormones such as ANDROGENS; ESTROGENS; and CORTICOSTEROIDS. Clinical symptoms include testicular swelling, GYNECOMASTIA, sexual precocity in children, or virilization (VIRILISM) in females."
+BMGC_DS20484,BMG_DS078529,"MeSH: A condition where the stomach wall becomes thickened, rubbery and loses its ability to distend. The stomach assumes a leather bottle shape. It is most often seen in adenocarcinoma of the stomach. The term is often used synonymously with diffuse adenocarcinoma of the stomach."
+BMGC_DS20485,BMG_DS078531,"MeSH: A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule."
+BMGC_DS20486,BMG_DS078532,"MeSH: A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS20487,BMG_DS078533,MeSH: Experimentally induced chronic injuries to the parenchymal cells in the liver to achieve a model for LIVER CIRRHOSIS.
+BMGC_DS20488,BMG_DS078534,MeSH: Pathological processes of the LIVER.
+BMGC_DS20489,BMG_DS078535,MeSH: Tumors or cancer of the LIVER.
+BMGC_DS20490,BMG_DS078536,MeSH: Experimentally induced tumors of the LIVER.
+BMGC_DS20491,BMG_DS078538,MeSH: A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
+BMGC_DS20492,BMG_DS078539,"MeSH: The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL)."
+BMGC_DS20493,BMG_DS078545,MeSH: Pathological processes involving any part of the LUNG.
+BMGC_DS20494,BMG_DS078546,MeSH: Tumors or cancer of the LUNG.
+BMGC_DS20495,BMG_DS078547,"MeSH: A chronic form of cutaneous lupus erythematosus (LUPUS ERYTHEMATOSUS, CUTANEOUS) in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur."
+BMGC_DS20496,BMG_DS078551,MeSH: Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system.
+BMGC_DS20497,BMG_DS078552,MeSH: A general term for various neoplastic diseases of the lymphoid tissue.
+BMGC_DS20498,BMG_DS078553,MeSH: Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.
+BMGC_DS20499,BMG_DS078554,"MeSH: Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease."
+BMGC_DS20500,BMG_DS078556,"MeSH: Disorders characterized by proliferation of lymphoid tissue, general or unspecified."
+BMGC_DS20501,BMG_DS078557,"MONDO: OBSOLETE. Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life. | MeSH: A lymphoproliferative disorder characterized by pleomorphic B-LYMPHOCYTES including PLASMA CELLS, with increased levels of monoclonal serum IMMUNOGLOBULIN M. There is lymphoplasmacytic cells infiltration into bone marrow and often other tissues, also known as lymphoplasmacytic lymphoma. Clinical features include ANEMIA; HEMORRHAGES; and hyperviscosity."
+BMGC_DS20502,BMG_DS078558,"MeSH: Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)"
+BMGC_DS20503,BMG_DS078559,MeSH: Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.
+BMGC_DS20504,BMG_DS078562,MeSH: Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia.
+BMGC_DS20505,BMG_DS078563,"MeSH: Such malposition and contact of the maxillary and mandibular teeth as to interfere with the highest efficiency during the excursive movements of the jaw that are essential for mastication. (Jablonski, Illustrated Dictionary of Dentistry, 1982)"
+BMGC_DS20506,BMG_DS078567,MeSH: Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS.
+BMGC_DS20507,BMG_DS078570,MeSH: Tumors or cancer of the MANDIBLE.
+BMGC_DS20508,BMG_DS078572,"MeSH: A rare neoplastic disorder characterized by a clonal proliferation of MAST CELLS, associated with KIT-D816 mutations, and accompanied by aberrant mast cell activation. The abnormal increase of MAST CELLS may occur in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA)."
+BMGC_DS20509,BMG_DS078574,MeSH: Cancer or tumors of the MAXILLA or upper jaw.
+BMGC_DS20510,BMG_DS078575,MeSH: Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms.
+BMGC_DS20511,BMG_DS078578,MeSH: Tumors or cancer of the MEDIASTINUM.
+BMGC_DS20512,BMG_DS078579,"MeSH: A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)"
+BMGC_DS20513,BMG_DS078580,"MeSH: Dilatation of the COLON, often to alarming dimensions. There are various types of megacolon including congenital megacolon in HIRSCHSPRUNG DISEASE, idiopathic megacolon in CONSTIPATION, and TOXIC MEGACOLON."
+BMGC_DS20514,BMG_DS078582,"MeSH: A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)"
+BMGC_DS20515,BMG_DS078583,MeSH: Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA.
+BMGC_DS20516,BMG_DS078584,"MeSH: The black, tarry, foul-smelling FECES that contain degraded blood."
+BMGC_DS20517,BMG_DS078585,"MeSH: Disturbances in registering an impression, in the retention of an acquired impression, or in the recall of an impression. Memory impairments are associated with DEMENTIA; CRANIOCEREBRAL TRAUMA; ENCEPHALITIS; ALCOHOLISM (see also ALCOHOL AMNESTIC DISORDER); SCHIZOPHRENIA; and other conditions."
+BMGC_DS20518,BMG_DS078587,"MeSH: A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7)"
+BMGC_DS20519,BMG_DS078588,"MeSH: A condition characterized by neck stiffness, headache, and other symptoms suggestive of meningeal irritation, but without actual inflammation of the meninges (MENINGITIS). Spinal fluid pressure may be elevated but spinal fluid is normal. (DeJong, The Neurologic Examination, 4th ed, p673)"
+BMGC_DS20520,BMG_DS078590,"MeSH: A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column."
+BMGC_DS20521,BMG_DS078591,"MeSH: Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)"
+BMGC_DS20522,BMG_DS078592,MeSH: Excessive uterine bleeding during MENSTRUATION.
+BMGC_DS20523,BMG_DS078593,"MeSH: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)"
+BMGC_DS20524,BMG_DS078594,"MONDO: Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity. | MeSH: Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of MERCURY or MERCURY COMPOUNDS."
+BMGC_DS20525,BMG_DS078599,"MeSH: A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)"
+BMGC_DS20526,BMG_DS078600,MeSH: A condition in which there is a change of one adult cell type to another similar adult cell type.
+BMGC_DS20527,BMG_DS078601,"MeSH: Abnormal uterine bleeding that is not related to MENSTRUATION, usually in females without regular MENSTRUAL CYCLE. The irregular and unpredictable bleeding usually comes from a dysfunctional ENDOMETRIUM."
+BMGC_DS20528,BMG_DS078602,MeSH: Abnormally small jaw.
+BMGC_DS20529,BMG_DS078603,MeSH: Congenital or developmental anomaly in which the eyeballs are abnormally small.
+BMGC_DS20530,BMG_DS078606,MeSH: Conditions characterized by the presence of M protein (Monoclonal protein) in serum or urine without clinical manifestations of plasma cell dyscrasia.
+BMGC_DS20531,BMG_DS078607,MeSH: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
+BMGC_DS20532,BMG_DS078608,MeSH: Marked developmental anomalies of a fetus or infant.
+BMGC_DS20533,BMG_DS078610,"MeSH: Strong dependence, both physiological and emotional, upon morphine."
+BMGC_DS20534,BMG_DS078611,"MeSH: A chronic endemic form of ENAMEL HYPOMINERALIZATION caused by drinking water with a high fluorine content during the time of tooth formation, and characterized by defective calcification that gives a white chalky appearance to the enamel, which gradually undergoes brown discoloration. (Jablonski's Dictionary of Dentistry, 1992, p286)"
+BMGC_DS20535,BMG_DS078612,MeSH: Congenital absence of or defects in structures of the mouth.
+BMGC_DS20536,BMG_DS078613,"MeSH: Abnormal breathing through the mouth, usually associated with obstructive disorders of the nasal passages."
+BMGC_DS20537,BMG_DS078614,MeSH: Tumors or cancer of the MOUTH.
+BMGC_DS20538,BMG_DS078616,"MeSH: A retention cyst of the salivary gland, lacrimal sac, paranasal sinuses, appendix, or gallbladder. (Stedman, 26th ed)"
+BMGC_DS20539,BMG_DS078617,"MeSH: A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY."
+BMGC_DS20540,BMG_DS078619,"MeSH: A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)"
+BMGC_DS20541,BMG_DS078620,MeSH: Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES.
+BMGC_DS20542,BMG_DS078621,"MeSH: Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)"
+BMGC_DS20543,BMG_DS078622,"MeSH: A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a free interval) followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)"
+BMGC_DS20544,BMG_DS078623,"MeSH: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation."
+BMGC_DS20545,BMG_DS078624,MeSH: Congenital structural abnormalities and deformities of the musculoskeletal system.
+BMGC_DS20546,BMG_DS078626,"MeSH: A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected."
+BMGC_DS20547,BMG_DS078627,"MeSH: Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA."
+BMGC_DS20548,BMG_DS078628,"MeSH: Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE."
+BMGC_DS20549,BMG_DS078630,MeSH: The presence of MYOGLOBIN in URINE usually as a result of rhabdomyolysis.
+BMGC_DS20550,BMG_DS078631,"MeSH: A benign neoplasm of muscular tissue. (Stedman, 25th ed)"
+BMGC_DS20551,BMG_DS078633,"MeSH: Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS."
+BMGC_DS20552,BMG_DS078637,MeSH: Disorders related to or resulting from abuse or misuse of OPIOIDS.
+BMGC_DS20553,BMG_DS078638,"MeSH: Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations."
+BMGC_DS20554,BMG_DS078639,MeSH: Tumors or cancer of the NASOPHARYNX.
+BMGC_DS20555,BMG_DS078640,"MeSH: An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses."
+BMGC_DS20556,BMG_DS078641,"MeSH: The death of cells in an organ or tissue due to disease, injury or failure of the blood supply."
+BMGC_DS20557,BMG_DS078643,"MeSH: Infections by nematodes, general or unspecified."
+BMGC_DS20558,BMG_DS078644,MeSH: Exfoliate neoplastic cells circulating in the blood and associated with metastasizing tumors.
+BMGC_DS20559,BMG_DS078645,MeSH: Ability of neoplasms to infiltrate and actively destroy surrounding tissue.
+BMGC_DS20560,BMG_DS078646,MeSH: The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.
+BMGC_DS20561,BMG_DS078647,MeSH: The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site.
+BMGC_DS20562,BMG_DS078648,MeSH: Disappearance of a neoplasm or neoplastic state without the intervention of therapy.
+BMGC_DS20563,BMG_DS078649,"MeSH: The local implantation of tumor cells by contamination of instruments and surgical equipment during and after surgical resection, resulting in local growth of the cells and tumor formation."
+BMGC_DS20564,BMG_DS078650,"MeSH: New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms."
+BMGC_DS20565,BMG_DS078652,"MeSH: A collective term for precoordinated organ/neoplasm headings locating neoplasms by organ, as BRAIN NEOPLASMS; DUODENAL NEOPLASMS; LIVER NEOPLASMS; etc."
+BMGC_DS20566,BMG_DS078654,"MONDO: OBSOLETE. Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus. | MeSH: Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS."
+BMGC_DS20567,BMG_DS078655,MeSH: Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms.
+BMGC_DS20568,BMG_DS078656,"MeSH: Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue."
+BMGC_DS20569,BMG_DS078657,"MeSH: Certain tumors that 1, arise in organs that are normally dependent on specific hormones and 2, are stimulated or caused to regress by manipulation of the endocrine environment."
+BMGC_DS20570,BMG_DS078658,"MeSH: A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively."
+BMGC_DS20571,BMG_DS078662,"MeSH: Tumors, cancer or other neoplasms produced by exposure to ionizing or non-ionizing radiation."
+BMGC_DS20572,BMG_DS078665,MeSH: The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity.
+BMGC_DS20573,BMG_DS078667,MeSH: A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions.
+BMGC_DS20574,BMG_DS078668,MeSH: Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
+BMGC_DS20575,BMG_DS078669,MeSH: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
+BMGC_DS20576,BMG_DS078670,"MeSH: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle."
+BMGC_DS20577,BMG_DS078672,"MeSH: A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)"
+BMGC_DS20578,BMG_DS078673,"MeSH: An experimental animal model for the demyelinating disease of GUILLAINE-BARRE SYNDROME. In the most frequently used protocol, animals are injected with a peripheral nerve tissue protein homogenate. After approximately 2 weeks the animals develop a neuropathy secondary to a T cell-mediated autoimmune response directed towards the MYELIN P2 PROTEIN in peripheral nerves. Pathologic findings include a perivascular accumulation of macrophages and T lymphocytes in the peripheral nervous system, similar to that seen in the Guillaine-Barre syndrome. (From Adams et al., Principles of Neurology, 6th ed, p1314; J Neuroimmunol 1998 Apr 1;84(1):40-52)"
+BMGC_DS20579,BMG_DS078674,"MeSH: A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)"
+BMGC_DS20580,BMG_DS078675,"MeSH: A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)"
+BMGC_DS20581,BMG_DS078676,"MeSH: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS)."
+BMGC_DS20582,BMG_DS078677,MeSH: Clinical signs and symptoms caused by nervous system injury or dysfunction.
+BMGC_DS20583,BMG_DS078680,"MeSH: A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin."
+BMGC_DS20584,BMG_DS078682,"MeSH: A nevus containing melanin. The term is usually restricted to nevocytic nevi (round or oval collections of melanin-containing nevus cells occurring at the dermoepidermal junction of the skin or in the dermis proper) or moles, but may be applied to other pigmented nevi."
+BMGC_DS20585,BMG_DS078684,MeSH: Abnormalities of the nose acquired after birth from injury or disease.
+BMGC_DS20586,BMG_DS078685,MeSH: Tumors or cancer of the NOSE.
+BMGC_DS20587,BMG_DS078686,"MeSH: The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2."
+BMGC_DS20588,BMG_DS078689,"MeSH: A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)"
+BMGC_DS20589,BMG_DS078690,MeSH: Abnormally infrequent menstruation.
+BMGC_DS20590,BMG_DS078696,MeSH: Tumors or cancer of the OROPHARYNX.
+BMGC_DS20591,BMG_DS078697,MeSH: The development of bony substance in normally soft structures.
+BMGC_DS20592,BMG_DS078698,MeSH: Dissolution of bone that particularly involves the removal or loss of calcium.
+BMGC_DS20593,BMG_DS078705,"MeSH: Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS."
+BMGC_DS20594,BMG_DS078707,"MONDO: A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. | MeSH: A rare cutaneous neoplasm that occurs in the elderly. It develops more frequently in women and predominantly involves apocrine gland-bearing areas, especially the vulva, scrotum, and perianal areas. The lesions develop as erythematous scaly patches that progress to crusted, pruritic, erythematous plaques. The clinical differential diagnosis includes squamous cell carcinoma in situ and superficial fungal infection. It is generally thought to be an adenocarcinoma of the epidermis, from which it extends into the contiguous epithelium of hair follicles and eccrine sweat ducts. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1478)"
+BMGC_DS20595,BMG_DS078708,MeSH: An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
+BMGC_DS20596,BMG_DS078709,MeSH: Persistent pain that is refractory to some or all forms of treatment.
+BMGC_DS20597,BMG_DS078713,MeSH: A malabsorption condition resulting from greater than 10% reduction in the secretion of pancreatic digestive enzymes (LIPASE; PROTEASES; and AMYLASE) by the EXOCRINE PANCREAS into the DUODENUM. This condition is often associated with CYSTIC FIBROSIS and with chronic PANCREATITIS.
+BMGC_DS20598,BMG_DS078714,"MeSH: Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA)."
+BMGC_DS20599,BMG_DS078715,"MeSH: A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed)"
+BMGC_DS20600,BMG_DS078716,"MeSH: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS20601,BMG_DS078717,"MeSH: A relatively rare, usually benign neoplasm originating in the chemoreceptor tissue of the CAROTID BODY; GLOMUS JUGULARE; GLOMUS TYMPANICUM; AORTIC BODIES; and the female genital tract. It consists histologically of rounded or ovoid hyperchromatic cells that tend to be grouped in an alveolus-like pattern within a scant to moderate amount of fibrous stroma and a few large thin-walled vascular channels. (From Stedman, 27th ed)"
+BMGC_DS20602,BMG_DS078718,"MeSH: A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)"
+BMGC_DS20603,BMG_DS078720,"MeSH: Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors."
+BMGC_DS20604,BMG_DS078722,MeSH: In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
+BMGC_DS20605,BMG_DS078723,MeSH: Tumors or cancer of the PARATHYROID GLANDS.
+BMGC_DS20606,BMG_DS078728,MeSH: A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis.
+BMGC_DS20607,BMG_DS078729,MeSH: Cancers or tumors of the PENIS or of its component tissues.
+BMGC_DS20608,BMG_DS078730,MeSH: Bleeding from a PEPTIC ULCER that can be located in any segment of the GASTROINTESTINAL TRACT.
+BMGC_DS20609,BMG_DS078731,"MeSH: Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body."
+BMGC_DS20610,BMG_DS078735,MeSH: Tumors or cancer of the PERITONEUM.
+BMGC_DS20611,BMG_DS078736,MeSH: Tumors or cancer of the PHARYNX.
+BMGC_DS20612,BMG_DS078737,MeSH: The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning.
+BMGC_DS20613,BMG_DS078738,"MeSH: A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)"
+BMGC_DS20614,BMG_DS078739,"MeSH: An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE)."
+BMGC_DS20615,BMG_DS078741,MeSH: The persistent eating of non-nutritive substances for a period of at least one month.
+BMGC_DS20616,BMG_DS078742,"MeSH: Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome."
+BMGC_DS20617,BMG_DS078743,"MeSH: A hair-containing cyst or sinus, occurring chiefly in the coccygeal region."
+BMGC_DS20618,BMG_DS078745,"MeSH: Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA."
+BMGC_DS20619,BMG_DS078746,MeSH: Abnormal placentation in which all or parts of the PLACENTA are attached directly to the MYOMETRIUM due to a complete or partial absence of DECIDUA. It is associated with POSTPARTUM HEMORRHAGE because of the failure of placental separation.
+BMGC_DS20620,BMG_DS078747,MeSH: Pathological processes or abnormal functions of the PLACENTA.
+BMGC_DS20621,BMG_DS078749,"MeSH: Poisoning by the ingestion of plants or its leaves, berries, roots or stalks. The manifestations in both humans and animals vary in severity from mild to life threatening. In animals, especially domestic animals, it is usually the result of ingesting moldy or fermented forage."
+BMGC_DS20622,BMG_DS078750,"MeSH: Any discrete, presumably solitary, mass of neoplastic PLASMA CELLS either in BONE MARROW or various extramedullary sites."
+BMGC_DS20623,BMG_DS078752,MeSH: Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself.
+BMGC_DS20624,BMG_DS078753,MeSH: Neoplasms of the thin serous membrane that envelopes the lungs and lines the thoracic cavity. Pleural neoplasms are exceedingly rare and are usually not diagnosed until they are advanced because in the early stages they produce no symptoms.
+BMGC_DS20625,BMG_DS078754,MeSH: A febrile disease caused by STREPTOCOCCUS PNEUMONIAE.
+BMGC_DS20626,BMG_DS078755,"MeSH: A pulmonary disease in humans occurring in immunodeficient or malnourished patients or infants, characterized by DYSPNEA, tachypnea, and HYPOXEMIA. Pneumocystis pneumonia is a frequently seen opportunistic infection in AIDS. It is caused by the fungus PNEUMOCYSTIS JIROVECII. The disease is also found in other MAMMALS where it is caused by related species of Pneumocystis."
+BMGC_DS20627,BMG_DS078756,"MeSH: An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM."
+BMGC_DS20628,BMG_DS078757,"MONDO: A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. | MeSH: A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent."
+BMGC_DS20629,BMG_DS078758,"MeSH: A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs."
+BMGC_DS20630,BMG_DS078759,"MeSH: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc."
+BMGC_DS20631,BMG_DS078760,"MeSH: Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base."
+BMGC_DS20632,BMG_DS078761,"MeSH: Urination of a large volume of urine with an increase in urinary frequency, commonly seen in diabetes (DIABETES MELLITUS; DIABETES INSIPIDUS)."
+BMGC_DS20633,BMG_DS078765,"MeSH: Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery."
+BMGC_DS20634,BMG_DS078766,"MeSH: A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease."
+BMGC_DS20635,BMG_DS078767,MeSH: Pathological conditions that tend eventually to become malignant.
+BMGC_DS20636,BMG_DS078768,"MeSH: The time period before the development of symptomatic diabetes. For example, certain risk factors can be observed in subjects who subsequently develop INSULIN RESISTANCE as in type 2 diabetes (DIABETES MELLITUS, TYPE 2)."
+BMGC_DS20637,BMG_DS078769,"MeSH: Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases."
+BMGC_DS20638,BMG_DS078772,"MeSH: A potentially life-threatening condition in which EMBRYO IMPLANTATION occurs outside the cavity of the UTERUS. Most ectopic pregnancies (>96%) occur in the FALLOPIAN TUBES, known as TUBAL PREGNANCY. They can be in other locations, such as UTERINE CERVIX; OVARY; and abdominal cavity (PREGNANCY, ABDOMINAL)."
+BMGC_DS20639,BMG_DS078773,"MeSH: A term used to describe pregnancies that exceed the upper limit of a normal gestational period. In humans, a prolonged pregnancy is defined as one that extends beyond 42 weeks (294 days) after the first day of the last menstrual period (MENSTRUATION), or birth with gestational age of 41 weeks or more."
+BMGC_DS20640,BMG_DS078776,"MeSH: The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH."
+BMGC_DS20641,BMG_DS078780,MeSH: Tumors or cancer of the PROSTATE.
+BMGC_DS20642,BMG_DS078781,"MeSH: The presence of proteins in the urine, an indicator of KIDNEY DISEASES."
+BMGC_DS20643,BMG_DS078782,MeSH: An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief.
+BMGC_DS20644,BMG_DS078787,MeSH: A feeling of restlessness associated with increased motor activity. This may occur as a manifestation of nervous system drug toxicity or other conditions.
+BMGC_DS20645,BMG_DS078788,MeSH: Abnormalities of motor function that are associated with organic and non-organic cognitive disorders.
+BMGC_DS20646,BMG_DS078789,"MeSH: A group of disorders characterized by physical symptoms that are affected by emotional factors and involve a single organ system, usually under AUTONOMIC NERVOUS SYSTEM control. (American Psychiatric Glossary, 1988)"
+BMGC_DS20647,BMG_DS078791,MeSH: Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance.
+BMGC_DS20648,BMG_DS078792,"MeSH: An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)"
+BMGC_DS20649,BMG_DS078793,"MeSH: The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not."
+BMGC_DS20650,BMG_DS078794,"MeSH: Excessive accumulation of extravascular fluid in the lung, an indication of a serious underlying disease or disorder. Pulmonary edema prevents efficient PULMONARY GAS EXCHANGE in the PULMONARY ALVEOLI, and can be life-threatening."
+BMGC_DS20651,BMG_DS078795,"MeSH: Hypertrophy and dilation of the RIGHT VENTRICLE of the heart that is caused by PULMONARY HYPERTENSION. This condition is often associated with pulmonary parenchymal or vascular diseases, such as CHRONIC OBSTRUCTIVE PULMONARY DISEASE and PULMONARY EMBOLISM."
+BMGC_DS20652,BMG_DS078798,MeSH: Pathological process resulting in the fibrous obstruction of the small- and medium-sized PULMONARY VEINS and PULMONARY HYPERTENSION. Veno-occlusion can arise from fibrous proliferation of the VASCULAR INTIMA and VASCULAR MEDIA; THROMBOSIS; or a combination of both.
+BMGC_DS20653,BMG_DS078802,MeSH: Experimentally produced harmful effects of ionizing or non-ionizing RADIATION in CHORDATA animals.
+BMGC_DS20654,BMG_DS078806,MeSH: An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition.
+BMGC_DS20655,BMG_DS078807,"MeSH: An abnormal anatomical passage connecting the RECTUM to the outside, with an orifice at the site of drainage."
+BMGC_DS20656,BMG_DS078808,MeSH: Tumors or cancer of the RECTUM.
+BMGC_DS20657,BMG_DS078810,"MeSH: The return of a sign, symptom, or disease after a remission."
+BMGC_DS20658,BMG_DS078811,"MeSH: An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes."
+BMGC_DS20659,BMG_DS078813,"MeSH: A form of hypersensitivity affecting the respiratory tract. It includes ASTHMA and RHINITIS, ALLERGIC, SEASONAL."
+BMGC_DS20660,BMG_DS078814,MeSH: Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders.
+BMGC_DS20661,BMG_DS078815,"MeSH: Noises, normal and abnormal, heard on auscultation over any part of the RESPIRATORY TRACT."
+BMGC_DS20662,BMG_DS078817,"MeSH: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)"
+BMGC_DS20663,BMG_DS078818,MeSH: Bleeding from the vessels of the retina.
+BMGC_DS20664,BMG_DS078819,"MeSH: A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)"
+BMGC_DS20665,BMG_DS078820,"MeSH: Pathologic changes that occur in the axon and cell body of a neuron proximal to an axonal lesion. The process is characterized by central chromatolysis which features flattening and displacement of the nucleus, loss of Nissl bodies, and cellular edema. Central chromatolysis primarily occurs in lower motor neurons."
+BMGC_DS20666,BMG_DS078821,"MeSH: A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis."
+BMGC_DS20667,BMG_DS078822,MeSH: New abnormal growth of tissue in the RETROPERITONEAL SPACE.
+BMGC_DS20668,BMG_DS078824,MONDO: OBSOLETE. A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. | MeSH: Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.
+BMGC_DS20669,BMG_DS078825,"MeSH: A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)"
+BMGC_DS20670,BMG_DS078826,"MeSH: A malignant solid tumor arising from mesenchymal tissues which normally differentiate to form striated muscle. It can occur in a wide variety of sites. It is divided into four distinct types: pleomorphic, predominantly in male adults; alveolar (RHABDOMYOSARCOMA, ALVEOLAR), mainly in adolescents and young adults; embryonal (RHABDOMYOSARCOMA, EMBRYONAL), predominantly in infants and children; and botryoidal, also in young children. It is one of the most frequently occurring soft tissue sarcomas and the most common in children under 15. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p2186; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1647-9)"
+BMGC_DS20671,BMG_DS078832,MeSH: Forcible or traumatic tear or break of an organ or other soft part of the body.
+BMGC_DS20672,BMG_DS078833,"MeSH: Tear or break of an organ, vessel or other soft part of the body, occurring in the absence of external force."
+BMGC_DS20673,BMG_DS078836,MeSH: Tumors or cancer of the SALIVARY GLANDS.
+BMGC_DS20674,BMG_DS078837,"MeSH: Poisoning caused by ingestion of food harboring species of SALMONELLA. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply."
+BMGC_DS20675,BMG_DS078838,MeSH: Infections with bacteria of the genus SALMONELLA.
+BMGC_DS20676,BMG_DS078839,MeSH: A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant.
+BMGC_DS20677,BMG_DS078842,"MeSH: A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. The tumor occurs usually before the age of 20, about twice as frequently in males as in females."
+BMGC_DS20678,BMG_DS078843,MeSH: Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA.
+BMGC_DS20679,BMG_DS078844,"MeSH: A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause."
+BMGC_DS20680,BMG_DS078846,"MeSH: A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)"
+BMGC_DS20681,BMG_DS078850,"MeSH: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve."
+BMGC_DS20682,BMG_DS078851,"MeSH: An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)"
+BMGC_DS20683,BMG_DS078852,"MeSH: A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions."
+BMGC_DS20684,BMG_DS078853,MeSH: New abnormal growth of tissue in the SEBACEOUS GLANDS.
+BMGC_DS20685,BMG_DS078855,MeSH: The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body.
+BMGC_DS20686,BMG_DS078858,MeSH: Physiological disturbances in normal sexual performance in either the male or the female.
+BMGC_DS20687,BMG_DS078859,"MeSH: A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)."
+BMGC_DS20688,BMG_DS078860,MeSH: A pathological condition manifested by failure to perfuse or oxygenate vital organs.
+BMGC_DS20689,BMG_DS078861,MeSH: Shock resulting from diminution of cardiac output in heart disease.
+BMGC_DS20690,BMG_DS078862,MeSH: Acute hemorrhage or excessive fluid loss resulting in HYPOVOLEMIA.
+BMGC_DS20691,BMG_DS078864,MeSH: Shock produced as a result of trauma.
+BMGC_DS20692,BMG_DS078866,MeSH: Tumors or cancer of the SIGMOID COLON.
+BMGC_DS20693,BMG_DS078867,"MeSH: Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient."
+BMGC_DS20694,BMG_DS078868,MeSH: Digestive system manifestations of diseases of the gastrointestinal system or of other organs.
+BMGC_DS20695,BMG_DS078869,MeSH: Respiratory system manifestations of diseases of the respiratory tract or of other organs.
+BMGC_DS20696,BMG_DS078870,"MeSH: A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins."
+BMGC_DS20697,BMG_DS078871,MeSH: Congenital structural abnormalities of the skin.
+BMGC_DS20698,BMG_DS078872,MeSH: Diseases involving the DERMIS or EPIDERMIS.
+BMGC_DS20699,BMG_DS078873,MeSH: Dermatologic disorders attendant upon non-dermatologic disease or injury.
+BMGC_DS20700,BMG_DS078874,MeSH: Tumors or cancer of the SKIN.
+BMGC_DS20701,BMG_DS078878,"MeSH: The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT."
+BMGC_DS20702,BMG_DS078880,"MeSH: Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc."
+BMGC_DS20703,BMG_DS078882,MeSH: An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.
+BMGC_DS20704,BMG_DS078883,MeSH: A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
+BMGC_DS20705,BMG_DS078884,"MONDO: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.). | MeSH: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)."
+BMGC_DS20706,BMG_DS078886,"MeSH: Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS)."
+BMGC_DS20707,BMG_DS078890,MeSH: Tumors or cancer of the SPLEEN.
+BMGC_DS20708,BMG_DS078892,MeSH: Enlargement of the spleen.
+BMGC_DS20709,BMG_DS078893,"MeSH: A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions."
+BMGC_DS20710,BMG_DS078895,"MeSH: Lengthy and continuous deprivation of food. (Stedman, 25th ed)"
+BMGC_DS20711,BMG_DS078897,MeSH: Tumors or cancer of the STOMACH.
+BMGC_DS20712,BMG_DS078898,MeSH: Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS).
+BMGC_DS20713,BMG_DS078900,MeSH: Presence of air or gas in the subcutaneous tissues of the body.
+BMGC_DS20714,BMG_DS078903,"MeSH: Physiological and psychological symptoms associated with withdrawal from the use of a drug after prolonged administration or habituation. The concept includes withdrawal from smoking or drinking, as well as withdrawal from an administered drug."
+BMGC_DS20715,BMG_DS078904,"MONDO: OBSOLETE. Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource. | MeSH: The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)"
+BMGC_DS20716,BMG_DS078905,"MeSH: An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight."
+BMGC_DS20717,BMG_DS078907,MeSH: A pathologic process consisting in the formation of pus.
+BMGC_DS20718,BMG_DS078909,MeSH: Infection occurring at the site of a surgical incision.
+BMGC_DS20719,BMG_DS078911,MeSH: New abnormal growth of tissue in the SWEAT GLANDS.
+BMGC_DS20720,BMG_DS078912,"MeSH: Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome."
+BMGC_DS20721,BMG_DS078913,"MeSH: A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements."
+BMGC_DS20722,BMG_DS078916,"MeSH: A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)"
+BMGC_DS20723,BMG_DS078918,"MeSH: Abnormally rapid heartbeat, usually with a HEART RATE above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia."
+BMGC_DS20724,BMG_DS078919,MeSH: A generic expression for any tachycardia that originates above the BUNDLE OF HIS.
+BMGC_DS20725,BMG_DS078920,"MeSH: Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders."
+BMGC_DS20726,BMG_DS078921,MeSH: Injuries to the fibrous cords of connective tissue which attach muscles to bones or other structures.
+BMGC_DS20727,BMG_DS078923,MeSH: Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms.
+BMGC_DS20728,BMG_DS078924,"MeSH: A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS."
+BMGC_DS20729,BMG_DS078928,MeSH: New abnormal growth of tissue in the THORAX.
+BMGC_DS20730,BMG_DS078929,MeSH: Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream.
+BMGC_DS20731,BMG_DS078930,MeSH: Formation and development of a thrombus or blood clot in BLOOD VESSELS.
+BMGC_DS20732,BMG_DS078931,"MeSH: A neoplasm originating from thymic tissue, usually benign, and frequently encapsulated. Although it is occasionally invasive, metastases are extremely rare. It consists of any type of thymic epithelial cell as well as lymphocytes that are usually abundant. Malignant lymphomas that involve the thymus, e.g., lymphosarcoma, Hodgkin's disease (previously termed granulomatous thymoma), should not be regarded as thymoma. (From Stedman, 25th ed)"
+BMGC_DS20733,BMG_DS078932,MeSH: Tumors or cancer of the THYMUS GLAND.
+BMGC_DS20734,BMG_DS078934,MeSH: Tumors or cancer of the THYROID GLAND.
+BMGC_DS20735,BMG_DS078935,MeSH: Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.
+BMGC_DS20736,BMG_DS078937,MONDO: Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. | MeSH: Fractures of the TIBIA.
+BMGC_DS20737,BMG_DS078938,MeSH: Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included.
+BMGC_DS20738,BMG_DS078939,MeSH: Tumors or cancer of the TONGUE.
+BMGC_DS20739,BMG_DS078943,MeSH: Congenital absence of or defects in structures of the teeth.
+BMGC_DS20740,BMG_DS078944,"MeSH: The pathologic wearing away of the tooth substance by brushing, bruxism, clenching, and other mechanical causes. It is differentiated from TOOTH ATTRITION in that this type of wearing away is the result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It differs also from TOOTH EROSION, the progressive loss of the hard substance of a tooth by chemical processes not involving bacterial action. (From Jablonski, Dictionary of Dentistry, 1992, p2)"
+BMGC_DS20741,BMG_DS078945,"MeSH: Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253)"
+BMGC_DS20742,BMG_DS078953,MeSH: Pain in the adjacent areas of the teeth.
+BMGC_DS20743,BMG_DS078955,"MeSH: A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors."
+BMGC_DS20744,BMG_DS078956,MeSH: A condition produced by the presence of toxins or other harmful substances in the BLOOD.
+BMGC_DS20745,BMG_DS078958,"MeSH: Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA."
+BMGC_DS20746,BMG_DS078959,"MeSH: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome."
+BMGC_DS20747,BMG_DS078960,"MeSH: A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants."
+BMGC_DS20748,BMG_DS078962,"MeSH: Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE."
+BMGC_DS20749,BMG_DS078963,
+BMGC_DS20750,BMG_DS078964,"MeSH: Infection with nematodes of the genus TRICHURIS, formerly called Trichocephalus."
+BMGC_DS20751,BMG_DS078966,MeSH: The possession of a third chromosome of any one type in an otherwise diploid cell.
+BMGC_DS20752,BMG_DS078968,"MeSH: A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect."
+BMGC_DS20753,BMG_DS078969,"MeSH: Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease."
+BMGC_DS20754,BMG_DS078971,"MeSH: MONOZYGOTIC TWINS who are joined in utero. They may be well developed and share only a superficial connection, often in the frontal, transverse or sagittal body plane, or they may share a partial duplication of a body structure. Alternatively, there may be a small and incompletely developed twin conjoined to a larger, more fully developed twin."
+BMGC_DS20755,BMG_DS078972,"MeSH: A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue."
+BMGC_DS20756,BMG_DS078974,"MeSH: Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5)"
+BMGC_DS20757,BMG_DS078975,MeSH: Pathological processes involving the URETERS.
+BMGC_DS20758,BMG_DS078976,"MeSH: Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom."
+BMGC_DS20759,BMG_DS078977,"MeSH: Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy."
+BMGC_DS20760,BMG_DS078980,"MeSH: Low-density crystals or stones in any part of the URINARY TRACT. Their chemical compositions often include CALCIUM OXALATE, magnesium ammonium phosphate (struvite), CYSTINE, or URIC ACID."
+BMGC_DS20761,BMG_DS078982,"MeSH: Involuntary loss of URINE, such as leaking of urine. It is a symptom of various underlying pathological processes. Major types of incontinence include URINARY URGE INCONTINENCE and URINARY STRESS INCONTINENCE."
+BMGC_DS20762,BMG_DS078983,MeSH: Inflammatory responses of the epithelium of the URINARY TRACT to microbial invasions. They are often bacterial infections with associated BACTERIURIA and PYURIA.
+BMGC_DS20763,BMG_DS078984,MeSH: Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
+BMGC_DS20764,BMG_DS078985,MONDO: OBSOLETE. Tumors or cancer of the urogenital system in either the male or the female. | MeSH: Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.
+BMGC_DS20765,BMG_DS078986,MeSH: Tumors or cancer of the URINARY TRACT in either the male or the female.
+BMGC_DS20766,BMG_DS078988,"MeSH: Bleeding from blood vessels in the UTERUS, sometimes manifested as vaginal bleeding."
+BMGC_DS20767,BMG_DS078990,MeSH: Tumors or cancer of the UTERUS.
+BMGC_DS20768,BMG_DS078992,"MeSH: A complete separation or tear in the wall of the UTERUS with or without expulsion of the FETUS. It may be due to injuries, multiple pregnancies, large fetus, previous scarring, or obstruction."
+BMGC_DS20769,BMG_DS078994,"MeSH: Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced."
+BMGC_DS20770,BMG_DS078996,MeSH: Tumors or cancer of the VAGINA.
+BMGC_DS20771,BMG_DS078997,MeSH: Enlarged and tortuous VEINS.
+BMGC_DS20772,BMG_DS079000,"MeSH: Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs."
+BMGC_DS20773,BMG_DS079002,MeSH: The forcible expulsion of the contents of the STOMACH through the MOUTH.
+BMGC_DS20774,BMG_DS079004,MeSH: Tumors or cancer of the VULVA.
+BMGC_DS20775,BMG_DS079005,MeSH: Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH.
+BMGC_DS20776,BMG_DS079006,MeSH: Disturbances in the body's WATER-ELECTROLYTE BALANCE.
+BMGC_DS20777,BMG_DS079007,MeSH: A multisystemic disease of a complex genetic background. It is characterized by inflammation of the blood vessels (VASCULITIS) leading to damage in any number of organs. The common features include granulomatous inflammation of the RESPIRATORY TRACT and KIDNEYS. Most patients have measurable autoantibodies (ANTINEUTROPHIL CYTOPLASMIC ANTIBODIES) against MYELOBLASTIN.
+BMGC_DS20778,BMG_DS079010,"MONDO: Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. | MeSH: Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity."
+BMGC_DS20779,BMG_DS079013,MeSH: Wounds caused by objects penetrating the skin.
+BMGC_DS20780,BMG_DS079017,"MeSH: A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA."
+BMGC_DS20781,BMG_DS079024,"MeSH: Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation."
+BMGC_DS20782,BMG_DS079026,"MeSH: A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA."
+BMGC_DS20783,BMG_DS079027,MeSH: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
+BMGC_DS20784,BMG_DS079029,"MeSH: Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion."
+BMGC_DS20785,BMG_DS079030,"MeSH: Pulmonary injury following the breathing in of toxic smoke from burning materials such as plastics, synthetics, building materials, etc. This injury is the most frequent cause of death in burn patients."
+BMGC_DS20786,BMG_DS079031,"MeSH: A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)"
+BMGC_DS20787,BMG_DS079032,MeSH: Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
+BMGC_DS20788,BMG_DS079033,"MeSH: A GASTRIN-secreting neuroendocrine tumor of the non-beta ISLET CELLS, the GASTRIN-SECRETING CELLS. This type of tumor is primarily located in the PANCREAS or the DUODENUM. Majority of gastrinomas are malignant. They metastasize to the LIVER; LYMPH NODES; and BONE but rarely elsewhere. The presence of gastrinoma is one of three requirements to be met for identification of ZOLLINGER-ELLISON SYNDROME, which sometimes occurs in families with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; (MEN 1)."
+BMGC_DS20789,BMG_DS079034,"MONDO: Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury. | MeSH: Adverse functional, metabolic, or structural changes in tissues that result from the restoration of blood flow to the tissue (REPERFUSION) following ISCHEMIA."
+BMGC_DS20790,BMG_DS079035,"MeSH: Damage to the MYOCARDIUM resulting from MYOCARDIAL REPERFUSION (restoration of blood flow to ischemic areas of the HEART.) Reperfusion takes place when there is spontaneous thrombolysis, THROMBOLYTIC THERAPY, collateral flow from other coronary vascular beds, or reversal of vasospasm."
+BMGC_DS20791,BMG_DS079036,MeSH: Increase in BODY WEIGHT over existing weight.
+BMGC_DS20792,BMG_DS079037,MeSH: Decrease in existing BODY WEIGHT.
+BMGC_DS20793,BMG_DS079040,MeSH: A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.
+BMGC_DS20794,BMG_DS079041,"MeSH: A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia."
+BMGC_DS20795,BMG_DS079043,"MeSH: A malignant disease of the T-LYMPHOCYTES in the bone marrow, thymus, and/or blood."
+BMGC_DS20796,BMG_DS079044,"MeSH: Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa."
+BMGC_DS20797,BMG_DS079045,"MeSH: A lymphoid leukemia characterized by a profound LYMPHOCYTOSIS with or without LYMPHADENOPATHY, hepatosplenomegaly, frequently rapid progression, and short survival. It was formerly called T-cell chronic lymphocytic leukemia."
+BMGC_DS20798,BMG_DS079047,"MeSH: Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS."
+BMGC_DS20799,BMG_DS079048,"MeSH: The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS."
+BMGC_DS20800,BMG_DS079051,"MeSH: Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES."
+BMGC_DS20801,BMG_DS079054,MeSH: An acute myeloid leukemia in which abnormal PROMYELOCYTES predominate. It is frequently associated with DISSEMINATED INTRAVASCULAR COAGULATION.
+BMGC_DS20802,BMG_DS079055,"MeSH: A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood."
+BMGC_DS20803,BMG_DS079056,MeSH: A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin.
+BMGC_DS20804,BMG_DS079057,"MeSH: A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic bile duct or the large intrahepatic bile duct. Classification is based on the site and type of dilatation. Type I is most common."
+BMGC_DS20805,BMG_DS079058,"MeSH: General term for the abnormal appearance of histiocytes in the blood. Based on the pathological features of the cells involved rather than on clinical findings, the histiocytic diseases are subdivided into three groups: HISTIOCYTOSIS, LANGERHANS CELL; HISTIOCYTOSIS, NON-LANGERHANS-CELL; and HISTIOCYTIC DISORDERS, MALIGNANT."
+BMGC_DS20806,BMG_DS079060,"MeSH: Benign, non-Langerhans-cell, histiocytic proliferative disorder that primarily affects the lymph nodes. It is often referred to as sinus histiocytosis with massive lymphadenopathy."
+BMGC_DS20807,BMG_DS079061,MeSH: Congenital structural abnormalities of the respiratory system.
+BMGC_DS20808,BMG_DS079063,MONDO: Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin). | MeSH: Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).
+BMGC_DS20809,BMG_DS079064,"MONDO: Tumors or cancer of the mammary gland in animals (mammary glands, animal). | MeSH: Tumors or cancer of the MAMMARY GLAND in animals (MAMMARY GLANDS, ANIMAL)."
+BMGC_DS20810,BMG_DS079067,"MeSH: Histiocytic, inflammatory response to a foreign body. It consists of modified macrophages with multinucleated giant cells, in this case foreign-body giant cells (GIANT CELLS, FOREIGN-BODY), usually surrounded by lymphocytes."
+BMGC_DS20811,BMG_DS079068,"MeSH: Sensation of discomfort, distress, or agony in the abdominal region."
+BMGC_DS20812,BMG_DS079070,"MeSH: A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant."
+BMGC_DS20813,BMG_DS079071,"MeSH: Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary."
+BMGC_DS20814,BMG_DS079074,"MeSH: Abuse, overuse, or misuse of a substance by its injection into a vein."
+BMGC_DS20815,BMG_DS079076,"MeSH: A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors."
+BMGC_DS20816,BMG_DS079079,"MeSH: Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease."
+BMGC_DS20817,BMG_DS079080,"MeSH: Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA."
+BMGC_DS20818,BMG_DS079081,"MeSH: Dilation of pupils to greater than 6 mm combined with failure of the pupils to constrict when stimulated with light. This condition may occur due to injury of the pupillary fibers in the oculomotor nerve, in acute angle-closure glaucoma, and in ADIE SYNDROME."
+BMGC_DS20819,BMG_DS079082,MeSH: Inability to empty the URINARY BLADDER with voiding (URINATION).
+BMGC_DS20820,BMG_DS079083,MeSH: Loss of blood during a surgical procedure.
+BMGC_DS20821,BMG_DS079085,MeSH: A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY.
+BMGC_DS20822,BMG_DS079086,"MeSH: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types."
+BMGC_DS20823,BMG_DS079087,"MeSH: Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity."
+BMGC_DS20824,BMG_DS079088,"MeSH: Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)"
+BMGC_DS20825,BMG_DS079089,"MeSH: A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34)"
+BMGC_DS20826,BMG_DS079090,"MeSH: A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)"
+BMGC_DS20827,BMG_DS079091,"MeSH: Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES."
+BMGC_DS20828,BMG_DS079092,MeSH: An abnormal passage within the mouth communicating between two or more anatomical structures.
+BMGC_DS20829,BMG_DS079093,MeSH: An abnormal passage communicating between any component of the respiratory tract or between any part of the respiratory system and surrounding organs.
+BMGC_DS20830,BMG_DS079097,MeSH: The failure to retain teeth as a result of disease or injury.
+BMGC_DS20831,BMG_DS079098,MeSH: A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.
+BMGC_DS20832,BMG_DS079099,MeSH: A group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes.
+BMGC_DS20833,BMG_DS079101,"MeSH: Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation."
+BMGC_DS20834,BMG_DS079102,MONDO: A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. | MeSH: A group of lymphomas exhibiting clonal expansion of malignant T-lymphocytes arrested at varying stages of differentiation as well as malignant infiltration of the skin. MYCOSIS FUNGOIDES; SEZARY SYNDROME; LYMPHOMATOID PAPULOSIS; and PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA are the best characterized of these disorders.
+BMGC_DS20835,BMG_DS079103,"MeSH: A group of malignant lymphomas thought to derive from peripheral T-lymphocytes in lymph nodes and other nonlymphoid sites. They include a broad spectrum of lymphocyte morphology, but in all instances express T-cell markers admixed with epithelioid histiocytes, plasma cells, and eosinophils. Although markedly similar to large-cell immunoblastic lymphoma (LYMPHOMA, LARGE-CELL, IMMUNOBLASTIC), this group's unique features warrant separate treatment."
+BMGC_DS20836,BMG_DS079105,"MeSH: The presence of viable bacteria circulating in the blood. Fever, chills, tachycardia, and tachypnea are common acute manifestations of bacteremia. The majority of cases are seen in already hospitalized patients, most of whom have underlying diseases or procedures which render their bloodstreams susceptible to invasion."
+BMGC_DS20837,BMG_DS079106,"MeSH: B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation."
+BMGC_DS20838,BMG_DS079108,"MeSH: An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease."
+BMGC_DS20839,BMG_DS079110,"MeSH: An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life."
+BMGC_DS20840,BMG_DS079111,"MeSH: A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and HYPOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE."
+BMGC_DS20841,BMG_DS079112,"MeSH: Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges."
+BMGC_DS20842,BMG_DS079114,"MeSH: Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms."
+BMGC_DS20843,BMG_DS079116,
+BMGC_DS20844,BMG_DS079122,MeSH: Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause.
+BMGC_DS20845,BMG_DS079125,"MeSH: A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter."
+BMGC_DS20846,BMG_DS079126,"MeSH: Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)"
+BMGC_DS20847,BMG_DS079129,"MeSH: A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (KERATITIS, DENDRITIC). (Dictionary of Visual Science, 3d ed)"
+BMGC_DS20848,BMG_DS079130,MeSH: Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood.
+BMGC_DS20849,BMG_DS079131,"MeSH: Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells."
+BMGC_DS20850,BMG_DS079133,MeSH: A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.
+BMGC_DS20851,BMG_DS079137,"MeSH: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)"
+BMGC_DS20852,BMG_DS079138,"MeSH: A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)"
+BMGC_DS20853,BMG_DS079139,"MeSH: A pathologic change in leukemia in which leukemic cells permeate various organs at any stage of the disease. All types of leukemia show various degrees of infiltration, depending upon the type of leukemia. The degree of infiltration may vary from site to site. The liver and spleen are common sites of infiltration, the greatest appearing in myelocytic leukemia, but infiltration is seen also in the granulocytic and lymphocytic types. The kidney is also a common site and of the gastrointestinal system, the stomach and ileum are commonly involved. In lymphocytic leukemia the skin is often infiltrated. The central nervous system too is a common site."
+BMGC_DS20854,BMG_DS079142,"MeSH: Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575)"
+BMGC_DS20855,BMG_DS079143,"MeSH: Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade."
+BMGC_DS20856,BMG_DS079144,"MeSH: Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance."
+BMGC_DS20857,BMG_DS079145,"MeSH: A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections."
+BMGC_DS20858,BMG_DS079147,"MeSH: Abnormal balloon- or sac-like dilatation in the wall of any one of the iliac arteries including the common, the internal, or the external ILIAC ARTERY."
+BMGC_DS20859,BMG_DS079148,"MeSH: An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm."
+BMGC_DS20860,BMG_DS079149,MeSH: An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.
+BMGC_DS20861,BMG_DS079153,"MeSH: Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells."
+BMGC_DS20862,BMG_DS079155,"MeSH: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits."
+BMGC_DS20863,BMG_DS079158,"MeSH: A systemic, large-cell, non-Hodgkin, malignant lymphoma characterized by cells with pleomorphic appearance and expressing the CD30 ANTIGEN. These so-called hallmark cells have lobulated and indented nuclei. This lymphoma is often mistaken for metastatic carcinoma and MALIGNANT HISTIOCYTOSIS."
+BMGC_DS20864,BMG_DS079159,"MeSH: Clinically benign, histologically malignant, recurrent cutaneous T-cell lymphoproliferative disorder characterized by an infiltration of large atypical cells surrounded by inflammatory cells. The atypical cells resemble REED-STERNBERG CELLS of HODGKIN DISEASE or the malignant cells of CUTANEOUS T-CELL LYMPHOMA. In some cases, lymphomatoid papulosis progresses to lymphomatous conditions including MYCOSIS FUNGOIDES; HODGKIN DISEASE; CUTANEOUS T-CELL LYMPHOMA; or ANAPLASTIC LARGE-CELL LYMPHOMA."
+BMGC_DS20865,BMG_DS079164,MeSH: Congenital structural deformities of the upper and lower extremities collectively or unspecified.
+BMGC_DS20866,BMG_DS079168,"MeSH: A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION."
+BMGC_DS20867,BMG_DS079171,"MeSH: A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA)."
+BMGC_DS20868,BMG_DS079176,"MeSH: A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)"
+BMGC_DS20869,BMG_DS079179,"MeSH: A tumor, basically a carcinoma with a single sarcoma such as leiomyosarcoma or angiosarcoma or multiple sarcomas of uterine origin. The role of estrogen has been postulated as a possible etiological factor in this tumor. (Holland et al., Cancer Medicine, 3d ed, p1703)"
+BMGC_DS20870,BMG_DS079187,MeSH: A liposarcoma containing round mesenchymal cells and a myxoid extracellular matrix in stroma.
+BMGC_DS20871,BMG_DS079190,"MeSH: A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)"
+BMGC_DS20872,BMG_DS079191,"MeSH: A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. The tumors range from benign to frankly malignant lesions. The tumor occurs most frequently in an end of a long tubular bone in young adults. (From Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS20873,BMG_DS079192,"MeSH: Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones."
+BMGC_DS20874,BMG_DS079197,"MeSH: Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue."
+BMGC_DS20875,BMG_DS079198,"MeSH: A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)"
+BMGC_DS20876,BMG_DS079200,"MeSH: A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)"
+BMGC_DS20877,BMG_DS079201,"MeSH: Locally aggressive tumors that form in the connective tissues of body with no known potential for metastasis. However, they are characterized by an infiltrative growth pattern, allowing invasion into nearby tissues and organs, particularly evident in patients with FAMILIAL ADENOMATOUS POLYPOSIS."
+BMGC_DS20878,BMG_DS079205,"MeSH: An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed)"
+BMGC_DS20879,BMG_DS079206,MeSH: A sarcoma of young adults occurring in the lower extremities and acral regions. It is found intimately bound to tendons as a circumscribed but unencapsulated melanin-bearing tumor of neuroectodermal origin. Clear cell sarcoma is associated with a specific t(12;22)(q13;q12) translocation.
+BMGC_DS20880,BMG_DS079209,"MeSH: A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)"
+BMGC_DS20881,BMG_DS079211,"MeSH: A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. Alveolar refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)"
+BMGC_DS20882,BMG_DS079212,"MeSH: A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)"
+BMGC_DS20883,BMG_DS079213,"MeSH: A variety of rare sarcoma having a reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. It is a rare tumor, usually occurring between 15 and 35 years of age. It appears in the muscles of the extremities in adults and most commonly in the head and neck regions of children. Though slow-growing, it commonly metastasizes to the lungs, brain, bones, and lymph nodes. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1365)"
+BMGC_DS20884,BMG_DS079214,"MeSH: A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle."
+BMGC_DS20885,BMG_DS079215,"MeSH: A highly malignant, primitive form of carcinoma, probably of germinal cell or teratomatous derivation, usually arising in a gonad and rarely in other sites. It is rare in the female ovary, but in the male it accounts for 20% of all testicular tumors. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, p1595)"
+BMGC_DS20886,BMG_DS079218,"MeSH: A radiosensitive, malignant neoplasm of the testis, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. There are three variants: classical (typical), the most common type; anaplastic; and spermatocytic. The classical seminoma is composed of fairly well differentiated sheets or cords of uniform polygonal or round cells (seminoma cells), each cell having abundant clear cytoplasm, distinct cell membranes, a centrally placed round nucleus, and one or more nucleoli. In the female, a grossly and histologically identical neoplasm, known as dysgerminoma, occurs. (Dorland, 27th ed)"
+BMGC_DS20887,BMG_DS079219,"MeSH: An unusual and aggressive tumor of germ-cell origin that reproduces the extraembryonic structures of the early embryo. It is the most common malignant germ cell tumor found in children. It is characterized by a labyrinthine glandular pattern of flat epithelial cells and rounded papillary processes with a central capillary (Schiller-Duval body). The tumor is rarely bilateral. Before the use of combination chemotherapy, the tumor was almost invariably fatal. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1189)"
+BMGC_DS20888,BMG_DS079220,MeSH: A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA.
+BMGC_DS20889,BMG_DS079221,"MeSH: A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)"
+BMGC_DS20890,BMG_DS079222,"MeSH: A malignant neoplasm consisting of elements of teratoma with those of embryonal carcinoma or choriocarcinoma, or both. It occurs most often in the testis. (Dorland, 27th ed)"
+BMGC_DS20891,BMG_DS079224,"MeSH: A benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The functional ones are yellow and contain LIPIDS. Depending on the cell type or cortical zone involved, they may produce ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE."
+BMGC_DS20892,BMG_DS079225,MeSH: A benign epithelial tumor of the LIVER.
+BMGC_DS20893,BMG_DS079226,"MeSH: A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells."
+BMGC_DS20894,BMG_DS079233,"MeSH: Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)"
+BMGC_DS20895,BMG_DS079235,"MeSH: An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)"
+BMGC_DS20896,BMG_DS079236,"MeSH: An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)"
+BMGC_DS20897,BMG_DS079240,"MeSH: A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM."
+BMGC_DS20898,BMG_DS079241,MeSH: An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.
+BMGC_DS20899,BMG_DS079242,MeSH: An invasive (infiltrating) CARCINOMA of the mammary ductal system (MAMMARY GLANDS) in the human BREAST.
+BMGC_DS20900,BMG_DS079244,"MeSH: A type of BREAST CANCER where the abnormal malignant cells form in the lobules, or milk-producing glands, of the breast."
+BMGC_DS20901,BMG_DS079245,"MeSH: A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS20902,BMG_DS079246,"MeSH: A tumor of both low- and high-grade malignancy. The low-grade grow slowly, appear in any age group, and are readily cured by excision. The high-grade behave aggressively, widely infiltrate the salivary gland and produce lymph node and distant metastases. Mucoepidermoid carcinomas account for about 21% of the malignant tumors of the parotid gland and 10% of the sublingual gland. They are the most common malignant tumor of the parotid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575; Holland et al., Cancer Medicine, 3d ed, p1240)"
+BMGC_DS20903,BMG_DS079250,MeSH: A malignant tumor arising from the epithelium of the BILE DUCTS.
+BMGC_DS20904,BMG_DS079256,"MeSH: A tumor of undifferentiated (anaplastic) cells of large size. It is usually bronchogenic. (From Dorland, 27th ed)"
+BMGC_DS20905,BMG_DS079257,"MeSH: An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)"
+BMGC_DS20906,BMG_DS079264,"MeSH: A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)"
+BMGC_DS20907,BMG_DS079269,"MeSH: Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)"
+BMGC_DS20908,BMG_DS079275,MeSH: Neoplasms of the SQUAMOUS EPITHELIAL CELLS. The concept does not refer to neoplasms located in tissue composed of squamous elements.
+BMGC_DS20909,BMG_DS079282,"MeSH: Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are highly aggressive and present primarily in adults as rapidly expanding mass lesions. They may arise in tissue that has been previously irradiated. (From Br J Neurosurg 1995 Apr;9(2):171-8)"
+BMGC_DS20910,BMG_DS079283,"MeSH: Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category."
+BMGC_DS20911,BMG_DS079284,"MeSH: A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)"
+BMGC_DS20912,BMG_DS079285,"MeSH: A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)"
+BMGC_DS20913,BMG_DS079288,"MeSH: A tumor of medium-to-large veins, composed of plump-to-spindled endothelial cells that bulge into vascular spaces in a tombstone-like fashion. These tumors are thought to have borderline aggression, where one-third develop local recurrences, but only rarely metastasize. It is unclear whether the epithelioid hemangioendothelioma is truly neoplastic or an exuberant tissue reaction, nor is it clear if this is equivalent to Kimura's disease (see ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA). (Segen, Dictionary of Modern Medicine, 1992)"
+BMGC_DS20914,BMG_DS079290,"MeSH: A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)"
+BMGC_DS20915,BMG_DS079291,MeSH: A collective term for the various types of nevi and melanomas.
+BMGC_DS20916,BMG_DS079293,"MeSH: An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed)"
+BMGC_DS20917,BMG_DS079297,"MeSH: A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)"
+BMGC_DS20918,BMG_DS079299,"MeSH: A rare but highly lethal childhood tumor found almost exclusively in infants. Histopathologically, it resembles RHABDOMYOSARCOMA but the tumor cells are not of myogenic origin. Although it arises primarily in the kidney, it may be found in other parts of the body. The rhabdoid cytomorphology is believed to be the expression of a very primitive malignant cell. (From Holland et al., Cancer Medicine, 3d ed, p2210)"
+BMGC_DS20919,BMG_DS079300,"MeSH: Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition."
+BMGC_DS20920,BMG_DS079301,"MeSH: Remnant of a tumor or cancer after primary, potentially curative therapy."
+BMGC_DS20921,BMG_DS079302,"MeSH: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS."
+BMGC_DS20922,BMG_DS079305,"MeSH: Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (MALT) type as a result of an immunologically mediated disorder."
+BMGC_DS20923,BMG_DS079306,MeSH: The worsening and general progression of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
+BMGC_DS20924,BMG_DS079308,MeSH: Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions.
+BMGC_DS20925,BMG_DS079309,MeSH: A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall.
+BMGC_DS20926,BMG_DS079310,MeSH: An abnormal increase in the amount of oxygen in the tissues and organs.
+BMGC_DS20927,BMG_DS079311,"MeSH: A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall."
+BMGC_DS20928,BMG_DS079312,"MeSH: Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females."
+BMGC_DS20929,BMG_DS079315,"MeSH: Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes."
+BMGC_DS20930,BMG_DS079317,"MeSH: Congenital structural abnormalities of the mouth and jaws, including the dentition."
+BMGC_DS20931,BMG_DS079318,MeSH: Traumatic or other damage to teeth including fractures (TOOTH FRACTURES) or displacements (TOOTH LUXATION).
+BMGC_DS20932,BMG_DS079319,MeSH: A condition in which HEART VENTRICLES exhibit impaired function.
+BMGC_DS20933,BMG_DS079320,"MeSH: A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13)."
+BMGC_DS20934,BMG_DS079321,"MeSH: Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional."
+BMGC_DS20935,BMG_DS079322,"MeSH: Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased."
+BMGC_DS20936,BMG_DS079323,"MeSH: A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease."
+BMGC_DS20937,BMG_DS079324,"MeSH: Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease."
+BMGC_DS20938,BMG_DS079325,MeSH: A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy.
+BMGC_DS20939,BMG_DS079326,MeSH: A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases.
+BMGC_DS20940,BMG_DS079327,MeSH: A group of conditions that develop due to overexposure or overexertion in excessive environmental heat.
+BMGC_DS20941,BMG_DS079328,"MeSH: A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly."
+BMGC_DS20942,BMG_DS079331,"MeSH: A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)"
+BMGC_DS20943,BMG_DS079333,"MeSH: Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA."
+BMGC_DS20944,BMG_DS079334,"MeSH: Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic."
+BMGC_DS20945,BMG_DS079335,"MeSH: A premalignant change arising in the prostatic epithelium, regarded as the most important and most likely precursor of prostatic adenocarcinoma. The neoplasia takes the form of an intra-acinar or ductal proliferation of secretory cells with unequivocal nuclear anaplasia, which corresponds to nuclear grade 2 and 3 invasive prostate cancer."
+BMGC_DS20946,BMG_DS079337,"MeSH: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)"
+BMGC_DS20947,BMG_DS079338,"MeSH: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC)."
+BMGC_DS20948,BMG_DS079339,MeSH: Hemorrhage following any surgical procedure. It may be immediate or delayed and is not restricted to the surgical wound.
+BMGC_DS20949,BMG_DS079344,"MeSH: A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)"
+BMGC_DS20950,BMG_DS079346,"MeSH: Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES."
+BMGC_DS20951,BMG_DS079347,"MeSH: A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483)"
+BMGC_DS20952,BMG_DS079348,MeSH: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
+BMGC_DS20953,BMG_DS079349,"MeSH: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones."
+BMGC_DS20954,BMG_DS079351,MeSH: Discomfort or more intense forms of pain that are localized to the cervical region. This term generally refers to pain in the posterior or lateral regions of the neck.
+BMGC_DS20955,BMG_DS079355,"MeSH: A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)"
+BMGC_DS20956,BMG_DS079356,"MeSH: A sudden, temporary sensation of heat predominantly experienced by some women during MENOPAUSE. (Random House Unabridged Dictionary, 2d ed)"
+BMGC_DS20957,BMG_DS079357,"MeSH: Increased pressure within the cranial vault. This may result from several conditions, including HYDROCEPHALUS; BRAIN EDEMA; intracranial masses; severe systemic HYPERTENSION; PSEUDOTUMOR CEREBRI; and other disorders."
+BMGC_DS20958,BMG_DS079358,"MeSH: Changes in the organism associated with senescence, occurring at an accelerated rate."
+BMGC_DS20959,BMG_DS079361,"MeSH: Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones."
+BMGC_DS20960,BMG_DS079363,"MeSH: Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information."
+BMGC_DS20961,BMG_DS079364,MeSH: Disorders related to substance use or abuse.
+BMGC_DS20962,BMG_DS079365,MeSH: Disorders related or resulting from use of amphetamines.
+BMGC_DS20963,BMG_DS079366,MeSH: Disorders related or resulting from use of cocaine.
+BMGC_DS20964,BMG_DS079367,"MeSH: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions."
+BMGC_DS20965,BMG_DS079370,MeSH: Inflammation caused by an injurious stimulus of peripheral neurons and resulting in release of neuropeptides which affect vascular permeability and help initiate proinflammatory and immune reactions at the site of injury.
+BMGC_DS20966,BMG_DS079371,"MeSH: Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome."
+BMGC_DS20967,BMG_DS079373,"MeSH: Intracranial bleeding into the PUTAMEN, a BASAL GANGLIA nucleus. This is associated with HYPERTENSION and lipohyalinosis of small blood vessels in the putamen. Clinical manifestations vary with the size of hemorrhage, but include HEMIPARESIS; HEADACHE; and alterations of consciousness."
+BMGC_DS20968,BMG_DS079374,"MONDO: Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213) | MeSH: Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)"
+BMGC_DS20969,BMG_DS079375,"MeSH: An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)"
+BMGC_DS20970,BMG_DS079378,"MONDO: Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. | MeSH: Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures."
+BMGC_DS20971,BMG_DS079380,"MeSH: Bleeding within the SKULL induced by penetrating and nonpenetrating traumatic injuries, including hemorrhages into the tissues of CEREBRUM; BRAIN STEM; and CEREBELLUM; as well as into the epidural, subdural and subarachnoid spaces of the MENINGES."
+BMGC_DS20972,BMG_DS079381,"MeSH: Accumulation of blood in the SUBDURAL SPACE with acute onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status."
+BMGC_DS20973,BMG_DS079382,"MeSH: Accumulation of blood in the SUBDURAL SPACE with delayed onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status."
+BMGC_DS20974,BMG_DS079383,"MeSH: Bleeding within the brain as a result of penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA. Traumatically induced hemorrhages may occur in any area of the brain, including the CEREBRUM; BRAIN STEM (see BRAIN STEM HEMORRHAGE, TRAUMATIC); and CEREBELLUM."
+BMGC_DS20975,BMG_DS079392,"MONDO: Damage to the blood vessels of the brain | MeSH: Penetrating and nonpenetrating traumatic injuries to an extracranial or intracranial blood vessel that supplies the brain. This includes the CAROTID ARTERIES; VERTEBRAL ARTERIES; MENINGEAL ARTERIES; CEREBRAL ARTERIES; veins, and venous sinuses."
+BMGC_DS20976,BMG_DS079395,"MeSH: Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect."
+BMGC_DS20977,BMG_DS079397,"MeSH: An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor."
+BMGC_DS20978,BMG_DS079399,MeSH: Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.
+BMGC_DS20979,BMG_DS079400,"MeSH: A syndrome characterized by a transient loss of the ability to form new memories. It primarily occurs in middle aged or elderly individuals, and episodes may last from minutes to hours. During the period of amnesia, immediate and recent memory abilities are impaired, but the level of consciousness and ability to perform other intellectual tasks are preserved. The condition is related to bilateral dysfunction of the medial portions of each TEMPORAL LOBE. Complete recovery normally occurs, and recurrences are unusual. (From Adams et al., Principles of Neurology, 6th ed, pp429-30)"
+BMGC_DS20980,BMG_DS079404,MeSH: Emesis and queasiness occurring after anesthesia.
+BMGC_DS20981,BMG_DS079405,MeSH: A pathological process consisting of the formation of new blood vessels in the CHOROID.
+BMGC_DS20982,BMG_DS079406,"MeSH: The geometric and structural changes that the HEART VENTRICLES undergo, usually following MYOCARDIAL INFARCTION. It comprises expansion of the infarct and dilatation of the healthy ventricle segments. While most prevalent in the left ventricle, it can also occur in the right ventricle."
+BMGC_DS20983,BMG_DS079407,"MONDO: A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives. | MeSH: Neurologic disorders caused by exposure to toxic substances through ingestion, injection, cutaneous application, or other method. This includes conditions caused by biologic, chemical, and pharmaceutical agents."
+BMGC_DS20984,BMG_DS079408,"MeSH: Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries."
+BMGC_DS20985,BMG_DS079409,"MeSH: Injury to the nervous system secondary to exposure to lead compounds. Two distinct clinical patterns occur in children (LEAD POISONING, NERVOUS SYSTEM, CHILDHOOD) and adults (LEAD POISONING, NERVOUS SYSTEM, ADULT). In children, lead poisoning typically produces an encephalopathy. In adults, exposure to toxic levels of lead is associated with a peripheral neuropathy."
+BMGC_DS20986,BMG_DS079410,"MeSH: A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072)"
+BMGC_DS20987,BMG_DS079411,"MeSH: Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA."
+BMGC_DS20988,BMG_DS079413,"MONDO: OBSOLETE. Bleeding within the cranium. | MeSH: Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces."
+BMGC_DS20989,BMG_DS079415,"MeSH: Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, pp109-10)"
+BMGC_DS20990,BMG_DS079417,"MeSH: Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions."
+BMGC_DS20991,BMG_DS079418,MeSH: Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
+BMGC_DS20992,BMG_DS079420,"MeSH: A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract."
+BMGC_DS20993,BMG_DS079422,"MeSH: Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)"
+BMGC_DS20994,BMG_DS079423,"MeSH: Diseases of the first cranial (olfactory) nerve, which usually feature anosmia or other alterations in the sense of smell and taste. Anosmia may be associated with NEOPLASMS; CENTRAL NERVOUS SYSTEM INFECTIONS; CRANIOCEREBRAL TRAUMA; inherited conditions; toxins; METABOLIC DISEASES; tobacco abuse; and other conditions. (Adams et al., Principles of Neurology, 6th ed, pp229-31)"
+BMGC_DS20995,BMG_DS079425,"MeSH: An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)"
+BMGC_DS20996,BMG_DS079426,MeSH: The weight of the FETUS in utero. It is usually estimated by various formulas based on measurements made during PRENATAL ULTRASONOGRAPHY.
+BMGC_DS20997,BMG_DS079429,"MeSH: Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)"
+BMGC_DS20998,BMG_DS079430,"MeSH: An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases."
+BMGC_DS20999,BMG_DS079432,"MeSH: A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit."
+BMGC_DS21000,BMG_DS079435,MeSH: Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
+BMGC_DS21001,BMG_DS079438,"MeSH: Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves."
+BMGC_DS21002,BMG_DS079439,MeSH: An abnormally low volume of blood circulating through the body. It may result in hypovolemic shock (see SHOCK).
+BMGC_DS21003,BMG_DS079440,"MeSH: An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)"
+BMGC_DS21004,BMG_DS079442,"MeSH: Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization."
+BMGC_DS21005,BMG_DS079444,MONDO: OBSOLETE. Allergic reaction to wheat that is triggered by the immune system. | MeSH: Allergic reaction to wheat that is triggered by the immune system.
+BMGC_DS21006,BMG_DS079445,MONDO: OBSOLETE. Allergic reaction to peanuts that is triggered by the immune system. | MeSH: Allergic reaction to peanuts that is triggered by the immune system.
+BMGC_DS21007,BMG_DS079446,MeSH: Carcinoma that arises from the PANCREATIC DUCTS. It accounts for the majority of cancers derived from the PANCREAS.
+BMGC_DS21008,BMG_DS079447,MeSH: Pain emanating from below the RIBS and above the ILIUM.
+BMGC_DS21009,BMG_DS079448,MeSH: A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
+BMGC_DS21010,BMG_DS079449,MeSH: Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
+BMGC_DS21011,BMG_DS079451,MeSH: The sudden sensation of being cold. It may be accompanied by SHIVERING.
+BMGC_DS21012,BMG_DS079452,"MONDO: Infections with bacteria of the genus CHLAMYDIA. | MeSH: Infections with bacteria of the genus CHLAMYDOPHILA.
+     | MeSH: Infections with bacteria of the genus CHLAMYDIA."
+BMGC_DS21013,BMG_DS079453,"MeSH: The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration."
+BMGC_DS21014,BMG_DS079458,MeSH: An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes LEUKOPENIA and THROMBOCYTOPENIA.
+BMGC_DS21015,BMG_DS079460,MeSH: Neoplasms of the skin and mucous membranes caused by papillomaviruses. They are usually benign but some have a high risk for malignant progression.
+BMGC_DS21016,BMG_DS079463,"MeSH: A group of diseases arising from pregnancy that are commonly associated with hyperplasia of trophoblasts (TROPHOBLAST) and markedly elevated human CHORIONIC GONADOTROPIN. They include HYDATIDIFORM MOLE, invasive mole (HYDATIDIFORM MOLE, INVASIVE), placental-site trophoblastic tumor (TROPHOBLASTIC TUMOR, PLACENTAL SITE), and CHORIOCARCINOMA. These neoplasms have varying propensities for invasion and spread."
+BMGC_DS21017,BMG_DS079465,MeSH: A general term for the complete or partial loss of the ability to hear from one or both ears.
+BMGC_DS21018,BMG_DS079466,"MeSH: A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis."
+BMGC_DS21019,BMG_DS079469,"MONDO: Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances. | MeSH: Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances."
+BMGC_DS21020,BMG_DS079472,MeSH: Congenital structural abnormalities of the LOWER EXTREMITY.
+BMGC_DS21021,BMG_DS079473,MeSH: Congenital structural abnormalities of the UPPER EXTREMITY.
+BMGC_DS21022,BMG_DS079475,MeSH: A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
+BMGC_DS21023,BMG_DS079476,"MeSH: A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations."
+BMGC_DS21024,BMG_DS079477,MeSH: An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
+BMGC_DS21025,BMG_DS079478,"MeSH: Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin."
+BMGC_DS21026,BMG_DS079479,"MeSH: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional."
+BMGC_DS21027,BMG_DS079482,MeSH: Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
+BMGC_DS21028,BMG_DS079483,"MeSH: Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND."
+BMGC_DS21029,BMG_DS079484,"MeSH: An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA."
+BMGC_DS21030,BMG_DS079489,"MeSH: A condition in PREGNANT PEOPLE with elevated systolic (>140 mm Hg) and diastolic (>90 mm Hg) blood pressure on at least two occasions 6 h apart. HYPERTENSION complicates 8-10% of all pregnancies, generally after 20 weeks of gestation. Gestational hypertension can be divided into several broad categories according to the complexity and associated symptoms, such as EDEMA; PROTEINURIA; SEIZURES; abnormalities in BLOOD COAGULATION and liver functions."
+BMGC_DS21031,BMG_DS079491,MeSH: All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).
+BMGC_DS21032,BMG_DS079492,"MeSH: A protrusion of abdominal structures through the retaining ABDOMINAL WALL. It involves two parts: an opening in the abdominal wall, and a hernia sac consisting of PERITONEUM and abdominal contents. Abdominal hernias include groin hernia (HERNIA, FEMORAL; HERNIA, INGUINAL) and VENTRAL HERNIA."
+BMGC_DS21033,BMG_DS079497,"MeSH: A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY."
+BMGC_DS21034,BMG_DS079502,"MeSH: CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)."
+BMGC_DS21035,BMG_DS079503,MeSH: Conditions in which the LIVER functions fall below the normal ranges. Severe hepatic insufficiency may cause LIVER FAILURE or DEATH. Treatment may include LIVER TRANSPLANTATION.
+BMGC_DS21036,BMG_DS079504,MeSH: Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.
+BMGC_DS21037,BMG_DS079507,"MeSH: A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME."
+BMGC_DS21038,BMG_DS079508,"MeSH: Damages to the EMBRYO, MAMMALIAN or the FETUS before BIRTH. Damages can be caused by any factors including biological, chemical, or physical."
+BMGC_DS21039,BMG_DS079514,"MeSH: A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY."
+BMGC_DS21040,BMG_DS079515,"MeSH: A pituitary adenoma which secretes ADRENOCORTICOTROPIN, leading to CUSHING DISEASE."
+BMGC_DS21041,BMG_DS079516,"MeSH: A status with BODY WEIGHT that is above certain standards. In the scale of BODY MASS INDEX, overweight is defined as having a BMI of 25.0-29.9 kg/m2. Overweight may or may not be due to increases in body fat (ADIPOSE TISSUE), hence overweight does not equal over fat."
+BMGC_DS21042,BMG_DS079520,MeSH: The event that a FETUS is born dead or stillborn.
+BMGC_DS21043,BMG_DS079521,MONDO: Breaks in bones. | MeSH: Breaks in bones.
+BMGC_DS21044,BMG_DS079524,"MeSH: A secondary headache disorder attributed to low CEREBROSPINAL FLUID pressure caused by SPINAL PUNCTURE, usually after dural or lumbar puncture."
+BMGC_DS21045,BMG_DS079525,MeSH: Difficulty in walking from place to place.
+BMGC_DS21046,BMG_DS079526,"MeSH: Pain in nerves, frequently involving facial SKIN, resulting from the activation the latent varicella-zoster virus (HERPESVIRUS 3, HUMAN). The two forms of the condition preceding the pain are HERPES ZOSTER OTICUS; and HERPES ZOSTER OPHTHALMICUS. Following the healing of the rashes and blisters, the pain sometimes persists."
+BMGC_DS21047,BMG_DS079527,"MeSH: Blood in the SEMEN, usually due to INFLAMMATION of the PROSTATE, the SEMINAL VESICLES, or both."
+BMGC_DS21048,BMG_DS079530,"MeSH: The most commonly diagnosed soft tissue sarcoma. It is a neoplasm with a fibrohistiocytic appearance found chiefly in later adult life, with peak incidence in the 7th decade."
+BMGC_DS21049,BMG_DS079532,"MeSH: An INFLAMMATION of the MUCOSA with burning or tingling sensation. It is characterized by atrophy of the squamous EPITHELIUM, vascular damage, inflammatory infiltration, and ulceration. It usually occurs at the mucous lining of the MOUTH, the GASTROINTESTINAL TRACT or the airway due to chemical irritations, CHEMOTHERAPY, or radiation therapy (RADIOTHERAPY)."
+BMGC_DS21050,BMG_DS079537,MeSH: Painful URINATION. It is often associated with infections of the lower URINARY TRACT.
+BMGC_DS21051,BMG_DS079539,MeSH: Involuntary discharge of URINE during sleep at night after expected age of completed development of urinary control.
+BMGC_DS21052,BMG_DS079541,MeSH: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.
+BMGC_DS21053,BMG_DS079542,MeSH: An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.
+BMGC_DS21054,BMG_DS079545,"MeSH: An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A."
+BMGC_DS21055,BMG_DS079546,"MeSH: Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day."
+BMGC_DS21056,BMG_DS079550,"MeSH: A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY."
+BMGC_DS21057,BMG_DS079551,"MeSH: A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION."
+BMGC_DS21058,BMG_DS079552,"MeSH: A condition characterized by the complete absence of SEMEN. This disorder should be differentiated from AZOOSPERMIA, absence of sperm in the semen."
+BMGC_DS21059,BMG_DS079554,MeSH: The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.
+BMGC_DS21060,BMG_DS079555,"MeSH: A spectrum of disorders characterized by clonal expansions of the peripheral blood LYMPHOCYTE populations known as large granular lymphocytes which contain abundant cytoplasm and azurophilic granules. Subtypes develop from either CD3-negative NATURAL KILLER CELLS or CD3-positive T-CELLS. The clinical course of both subtypes can vary from spontaneous regression to progressive, malignant disease."
+BMGC_DS21061,BMG_DS079556,"MeSH: A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases."
+BMGC_DS21062,BMG_DS079559,"MeSH: A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex."
+BMGC_DS21063,BMG_DS079562,"MeSH: An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes."
+BMGC_DS21064,BMG_DS079563,MeSH: The omission of atrial activation that is caused by transient cessation of impulse generation at the SINOATRIAL NODE. It is characterized by a prolonged pause without P wave in an ELECTROCARDIOGRAM. Sinus arrest has been associated with sleep apnea (REM SLEEP-RELATED SINUS ARREST).
+BMGC_DS21065,BMG_DS079565,MeSH: A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.
+BMGC_DS21066,BMG_DS079566,"MeSH: A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common."
+BMGC_DS21067,BMG_DS079568,MeSH: Markedly reduced or absent REPERFUSION in an infarct zone following the removal of an obstruction or constriction of an artery.
+BMGC_DS21068,BMG_DS079569,"MONDO: A cause of male infertility characterized by X-linked inheritance in which only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop) and there are not any sperm cells present in the seminiferous tubules. | MeSH: A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement."
+BMGC_DS21069,BMG_DS079571,"MeSH: Rare neoplasms of mesenchymal origin, usually benign, and most commonly involving the PLEURA (see SOLITARY FIBROUS TUMOR, PLEURAL). They also are found in extrapleural sites."
+BMGC_DS21070,BMG_DS079572,"MeSH: An extranodal neoplasm, usually possessing an NK-cell phenotype and associated with EPSTEIN-BARR VIRUS. These lymphomas exhibit a broad morphologic spectrum, frequent necrosis, angioinvasion, and most commonly present in the midfacial region, but also in other extranodal sites."
+BMGC_DS21071,BMG_DS079574,"MeSH: A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder."
+BMGC_DS21072,BMG_DS079575,MONDO: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS. | MeSH: Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.
+BMGC_DS21073,BMG_DS079576,"MeSH: A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL)."
+BMGC_DS21074,BMG_DS079580,"MeSH: A condition of abnormally high level of PHOSPHATES in the blood, usually significantly above the normal range of 0.84-1.58 mmol per liter of serum."
+BMGC_DS21075,BMG_DS079585,"MeSH: Malignant neoplasms composed of MACROPHAGES or DENDRITIC CELLS. Most histiocytic sarcomas present as localized tumor masses without a leukemic phase. Though the biological behavior of these neoplasms resemble lymphomas, their cell lineage is histiocytic not lymphoid."
+BMGC_DS21076,BMG_DS079587,MONDO: Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate. | MeSH: Disorders of the AUTONOMIC NERVOUS SYSTEM occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the BLOOD PRESSURE and HEART RATE.
+BMGC_DS21077,BMG_DS079588,"MeSH: Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576)"
+BMGC_DS21078,BMG_DS079590,"MeSH: A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member."
+BMGC_DS21079,BMG_DS079591,"MeSH: A form of ischemia-reperfusion injury occurring in the early period following transplantation. Significant pathophysiological changes in MITOCHONDRIA are the main cause of the dysfunction. It is most often seen in the transplanted lung, liver, or kidney and can lead to GRAFT REJECTION."
+BMGC_DS21080,BMG_DS079594,"MeSH: Abnormally slow pace of regaining CONSCIOUSNESS after general anesthesia (ANESTHESIA, GENERAL) usually given during surgical procedures. This condition is characterized by persistent somnolence."
+BMGC_DS21081,BMG_DS079596,"MONDO: A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological). | MeSH: A condition of lung damage that is characterized by bilateral pulmonary infiltrates (PULMONARY EDEMA) rich in NEUTROPHILS, and in the absence of clinical HEART FAILURE. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)."
+BMGC_DS21082,BMG_DS079600,"MeSH: White or pink lesions on the arms, hands, face, or scalp that arise from sun-induced DNA DAMAGE to KERATINOCYTES in exposed areas. They are considered precursor lesions to superficial SQUAMOUS CELL CARCINOMA."
+BMGC_DS21083,BMG_DS079601,"MeSH: A form of LYNCH SYNDROME II associated with cutaneous SEBACEOUS GLAND NEOPLASMS. Muir-Torre syndrome is also associated with other visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal neoplasms."
+BMGC_DS21084,BMG_DS079602,"MeSH: A de novo myeloproliferation arising from an abnormal stem cell. It is characterized by the replacement of bone marrow by fibrous tissue, a process that is mediated by CYTOKINES arising from the abnormal clone."
+BMGC_DS21085,BMG_DS079603,MeSH: A form of highly malignant lung cancer that is composed of small ovoid cells (SMALL CELL CARCINOMA).
+BMGC_DS21086,BMG_DS079605,"MeSH: Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME."
+BMGC_DS21087,BMG_DS079614,"MeSH: A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as DIABETES; HYPERTENSION; and METABOLIC SYNDROME."
+BMGC_DS21088,BMG_DS079616,"MeSH: The structural changes in the number, mass, size and/or composition of the airway tissues."
+BMGC_DS21089,BMG_DS079622,"MeSH: Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome)."
+BMGC_DS21090,BMG_DS079623,"MeSH: Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology."
+BMGC_DS21091,BMG_DS079624,"MeSH: Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY."
+BMGC_DS21092,BMG_DS079625,"MeSH: Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix."
+BMGC_DS21093,BMG_DS079626,"MeSH: A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA."
+BMGC_DS21094,BMG_DS079628,"MeSH: Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist."
+BMGC_DS21095,BMG_DS079634,MeSH: Poisoning from toxins present in bivalve mollusks that have been ingested. Four distinct types of shellfish poisoning are recognized based on the toxin involved.
+BMGC_DS21096,BMG_DS079637,"MeSH: A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision."
+BMGC_DS21097,BMG_DS079638,"MeSH: Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA."
+BMGC_DS21098,BMG_DS079640,"MeSH: The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight."
+BMGC_DS21099,BMG_DS079642,"MeSH: Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens."
+BMGC_DS21100,BMG_DS079644,"MeSH: Injuries to blood vessels caused by laceration, contusion, puncture, or crush and other types of injuries. Symptoms vary by site and mode of injuries and may include bleeding, bruising, swelling, pain, and numbness. It does not include injuries secondary to pathologic function or diseases such as ATHEROSCLEROSIS."
+BMGC_DS21101,BMG_DS079656,"MeSH: X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene."
+BMGC_DS21102,BMG_DS079657,MeSH: Accumulations of extracellularly deposited AMYLOID FIBRILS within tissues.
+BMGC_DS21103,BMG_DS079658,MeSH: Lesions formed within the walls of ARTERIES associated with deposits of fat and other substances that accumulate in the lining of the artery wall.
+BMGC_DS21104,BMG_DS079659,"MeSH: An infestation with the flea TUNGA PENETRANS causing inflammation, pruritus, and pain, in both humans and other mammals. There is a high incidence of secondary infections such as BACTEREMIA and TETANUS."
+BMGC_DS21105,BMG_DS079661,"MeSH: A rare, aggressive soft tissue sarcoma that primarily affects adolescents and young adults. It is most commonly found in the abdomen."
+BMGC_DS21106,BMG_DS079662,"MeSH: The new and thickened layer of scar tissue that forms on a PROSTHESIS, or as a result of vessel injury especially following ANGIOPLASTY or stent placement."
+BMGC_DS21107,BMG_DS079664,"MeSH: A dull or sharp painful sensation associated with the outer or inner structures of the eyeball, having different causes."
+BMGC_DS21108,BMG_DS079665,"MeSH: A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels."
+BMGC_DS21109,BMG_DS079666,"MeSH: Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome."
+BMGC_DS21110,BMG_DS079667,"MeSH: Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2."
+BMGC_DS21111,BMG_DS079668,"MeSH: Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome."
+BMGC_DS21112,BMG_DS079669,"MeSH: A primary peripheral T-cell lymphoma in the gastrointestinal tract, most often in the jejunum, associated with a history of CELIAC DISEASE or other gastrointestinal diseases."
+BMGC_DS21113,BMG_DS079676,"MeSH: A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME)."
+BMGC_DS21114,BMG_DS079682,MeSH: Clusters of colonic crypts that appear different from the surrounding mucosa when visualized after staining. They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma.
+BMGC_DS21115,BMG_DS079683,MeSH: Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells.
+BMGC_DS21116,BMG_DS079686,"MeSH: Dull or sharp aching pain caused by stimulated NOCICEPTORS due to tissue injury, inflammation or diseases. It can be divided into somatic or tissue pain and VISCERAL PAIN."
+BMGC_DS21117,BMG_DS079688,MeSH: Increased RESPIRATORY RATE.
+BMGC_DS21118,BMG_DS079691,MeSH: Congenital anomaly of abnormally short fingers or toes.
+BMGC_DS21119,BMG_DS079692,MeSH: Injuries to the PERIPHERAL NERVES.
+BMGC_DS21120,BMG_DS079693,"MeSH: Discomfort stemming from muscles, LIGAMENTS, tendons, and bones."
+BMGC_DS21121,BMG_DS079694,"MeSH: Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating."
+BMGC_DS21122,BMG_DS079698,"MeSH: Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA)."
+BMGC_DS21123,BMG_DS079700,MeSH: Excessive thirst manifested by excessive fluid intake. It is characteristic of many diseases such as DIABETES MELLITUS; DIABETES INSIPIDUS; and NEPHROGENIC DIABETES INSIPIDUS. The condition may be psychogenic in origin.
+BMGC_DS21124,BMG_DS079706,MeSH: Persistent and reproducible chest discomfort usually precipitated by a physical exertion that dissipates upon cessation of such an activity. The symptoms are manifestations of MYOCARDIAL ISCHEMIA.
+BMGC_DS21125,BMG_DS079710,"MeSH: Impaired ability in numerical concepts. These inabilities arise as a result of primary neurological lesion, are syndromic (e.g., GERSTMANN SYNDROME ) or acquired due to brain damage."
+BMGC_DS21126,BMG_DS079717,"MeSH: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity."
+BMGC_DS21127,BMG_DS079718,MeSH: Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels is associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS.
+BMGC_DS21128,BMG_DS079719,MeSH: Newly arising secondary tumors so small they are difficult to detect by physical examination or routine imaging techniques.
+BMGC_DS21129,BMG_DS079733,MeSH: Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers.
+BMGC_DS21130,BMG_DS079736,"MeSH: Poisoning due to exposure to ORGANOPHOSPHORUS COMPOUNDS, such as ORGANOPHOSPHATES; ORGANOTHIOPHOSPHATES; and ORGANOTHIOPHOSPHONATES."
+BMGC_DS21131,BMG_DS079739,"MeSH: A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the gene coding for KRT-17 that are causative mutations for Pachyonychia congenita, Type 2. Natal teeth involvement is sometimes associated with steatocystoma multiplex."
+BMGC_DS21132,BMG_DS079741,MeSH: Benign tumors of fatty tissues found in infancy and childhood. It is associated chromosomal aberrations that result in activation of an oncogene on chromosome band 8q12.
+BMGC_DS21133,BMG_DS079743,MeSH: Accidental or deliberate use of a medication or street drug in excess of normal dosage.
+BMGC_DS21134,BMG_DS079745,MeSH: The death of the female parent.
+BMGC_DS21135,BMG_DS079747,MeSH: A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
+BMGC_DS21136,BMG_DS079749,MeSH: Drinking an excessive amount of ALCOHOLIC BEVERAGES in a short period of time.
+BMGC_DS21137,BMG_DS079752,"MeSH: The origin, production or development of cancer through genotypic and phenotypic changes which upset the normal balance between cell proliferation and cell death. Carcinogenesis generally requires a constellation of steps, which may occur quickly or over a period of many years."
+BMGC_DS21138,BMG_DS079753,MeSH: Painful sensation in the muscles.
+BMGC_DS21139,BMG_DS079756,MeSH: Tumors or cancer of the PROSTATE which can grow in the presence of low or residual amount of androgen hormones such as TESTOSTERONE.
+BMGC_DS21140,BMG_DS079760,MONDO: OBSOLETE. Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. | MeSH: Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as PHARMACEUTICAL PREPARATIONS; NOXAE; and PESTICIDES.
+BMGC_DS21141,BMG_DS079761,"MeSH: Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals."
+BMGC_DS21142,BMG_DS079762,MeSH: Breast neoplasms that do not express ESTROGEN RECEPTORS; PROGESTERONE RECEPTORS; and do not overexpress the NEU RECEPTOR/HER-2 PROTO-ONCOGENE PROTEIN.
+BMGC_DS21143,BMG_DS079765,MeSH: The formation of CONGENITAL ABNORMALITIES.
+BMGC_DS21144,BMG_DS079771,MeSH: Damage or trauma inflicted to the CORNEA by external means.
+BMGC_DS21145,BMG_DS079778,"MeSH: Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can be isolated, syndromic, non-syndromic or be a part of chromosome abnormality. Associated pulmonary hypoplasia and PULMONARY HYPERTENSION can further complicate stabilization and surgical intervention."
+BMGC_DS21146,BMG_DS079779,MeSH: An inflammation of the NASAL MUCOSA triggered by ALLERGENS.
+BMGC_DS21147,BMG_DS079781,"MeSH: An aggressive THYROID GLAND malignancy which generally occurs in IODINE-deficient areas in people with previous thyroid pathology such as GOITER. It is associated with CELL DEDIFFERENTIATION of THYROID CARCINOMA (e.g., FOLLICULAR THYROID CARCINOMA; PAPILLARY THYROID CANCER). Typical initial presentation is a rapidly growing neck mass which upon metastasis is associated with DYSPHAGIA; NECK PAIN; bone pain; DYSPNEA; and NEUROLOGIC DEFICITS."
+BMGC_DS21148,BMG_DS079784,MeSH: Heterogeneous disorders of cortical malformation characterized by excessive and small fused gyri and shallow sulci of the CORTEX with abnormal cortical lamination. It is considered a malformation secondary to abnormal post-migrational development of the neurons during cerebral cortical development and is associated with EPILEPSY and learning difficulties.
+BMGC_DS21149,BMG_DS079785,"MeSH: Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures."
+BMGC_DS21150,BMG_DS079787,MeSH: Malformation of external portion of EAR AURICLE.
+BMGC_DS21151,BMG_DS079789,"MeSH: The death of a FETUS of GESTATIONAL AGE 28 weeks or more, or the death of a live-born INFANT less than 28 days of age."
+BMGC_DS21152,BMG_DS079790,MeSH: The death of a live-born INFANT within its first year of life.
+BMGC_DS21153,BMG_DS079791,MeSH: Damage to the HEART or its function secondary to exposure to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION.
+BMGC_DS21154,BMG_DS079794,"MeSH: The active alterations of vascular wall structures, often leading to elevated VASCULAR RESISTANCE. It is associated with AGING; ATHEROSCLEROSIS; DIABETES MELLITUS; HYPERTENSION; PREGNANCY; PULMONARY HYPERTENSION; and STROKE, but is also a normal part of EMBRYOGENESIS."
+BMGC_DS21155,BMG_DS079795,"MeSH: A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION; POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER DISEASE; PARKINSON DISEASE; HUNTINGTON DISEASE; and TYPE 2 DIABETES MELLITUS."
+BMGC_DS21156,BMG_DS079796,
+BMGC_DS21157,BMG_DS079797,
+BMGC_DS21158,BMG_DS079798,
+BMGC_DS21159,BMG_DS079799,
+BMGC_DS21160,BMG_DS079800,
+BMGC_DS21161,BMG_DS079801,
+BMGC_DS21162,BMG_DS079802,
+BMGC_DS21163,BMG_DS079803,
+BMGC_DS21164,BMG_DS079804,
+BMGC_DS21165,BMG_DS079805,
+BMGC_DS21166,BMG_DS079806,
+BMGC_DS21167,BMG_DS079807,
+BMGC_DS21168,BMG_DS079808,
+BMGC_DS21169,BMG_DS079809,
+BMGC_DS21170,BMG_DS079810,
+BMGC_DS21171,BMG_DS079811,
+BMGC_DS21172,BMG_DS079812,
+BMGC_DS21173,BMG_DS079813,
+BMGC_DS21174,BMG_DS079814,
+BMGC_DS21175,BMG_DS079815,
+BMGC_DS21176,BMG_DS079816,
+BMGC_DS21177,BMG_DS079817,
+BMGC_DS21178,BMG_DS079818,
+BMGC_DS21179,BMG_DS079819,
+BMGC_DS21180,BMG_DS079820,
+BMGC_DS21181,BMG_DS079821,
+BMGC_DS21182,BMG_DS079822,
+BMGC_DS21183,BMG_DS079823,
+BMGC_DS21184,BMG_DS079824,
+BMGC_DS21185,BMG_DS079825,
+BMGC_DS21186,BMG_DS079826,
+BMGC_DS21187,BMG_DS079827,
+BMGC_DS21188,BMG_DS079828,
+BMGC_DS21189,BMG_DS079829,
+BMGC_DS21190,BMG_DS079830,
+BMGC_DS21191,BMG_DS079831,
+BMGC_DS21192,BMG_DS079832,
+BMGC_DS21193,BMG_DS079833,
+BMGC_DS21194,BMG_DS079834,
+BMGC_DS21195,BMG_DS079835,
+BMGC_DS21196,BMG_DS079836,
+BMGC_DS21197,BMG_DS079837,
+BMGC_DS21198,BMG_DS079838,
+BMGC_DS21199,BMG_DS079839,
+BMGC_DS21200,BMG_DS079840,
+BMGC_DS21201,BMG_DS079841,
+BMGC_DS21202,BMG_DS079842,
+BMGC_DS21203,BMG_DS079843,
+BMGC_DS21204,BMG_DS079844,
+BMGC_DS21205,BMG_DS079845,
+BMGC_DS21206,BMG_DS079846,
+BMGC_DS21207,BMG_DS079847,
+BMGC_DS21208,BMG_DS079848,
+BMGC_DS21209,BMG_DS079849,
+BMGC_DS21210,BMG_DS079850,
+BMGC_DS21211,BMG_DS079851,
+BMGC_DS21212,BMG_DS079852,
+BMGC_DS21213,BMG_DS079853,
+BMGC_DS21214,BMG_DS079854,
+BMGC_DS21215,BMG_DS079855,
+BMGC_DS21216,BMG_DS079856,
+BMGC_DS21217,BMG_DS079857,
+BMGC_DS21218,BMG_DS079858,
+BMGC_DS21219,BMG_DS079859,
+BMGC_DS21220,BMG_DS079860,
+BMGC_DS21221,BMG_DS079861,
+BMGC_DS21222,BMG_DS079862,
+BMGC_DS21223,BMG_DS079863,
+BMGC_DS21224,BMG_DS079864,
+BMGC_DS21225,BMG_DS079865,
+BMGC_DS21226,BMG_DS079866,
+BMGC_DS21227,BMG_DS079867,
+BMGC_DS21228,BMG_DS079868,
+BMGC_DS21229,BMG_DS079869,
+BMGC_DS21230,BMG_DS079870,
+BMGC_DS21231,BMG_DS079871,
+BMGC_DS21232,BMG_DS079872,
+BMGC_DS21233,BMG_DS079873,
+BMGC_DS21234,BMG_DS079874,
+BMGC_DS21235,BMG_DS079875,
+BMGC_DS21236,BMG_DS079876,
+BMGC_DS21237,BMG_DS079877,
+BMGC_DS21238,BMG_DS079878,
+BMGC_DS21239,BMG_DS079879,
+BMGC_DS21240,BMG_DS079880,
+BMGC_DS21241,BMG_DS079881,
+BMGC_DS21242,BMG_DS079882,
+BMGC_DS21243,BMG_DS079883,
+BMGC_DS21244,BMG_DS079884,
+BMGC_DS21245,BMG_DS079885,
+BMGC_DS21246,BMG_DS079886,
+BMGC_DS21247,BMG_DS079887,
+BMGC_DS21248,BMG_DS079888,
+BMGC_DS21249,BMG_DS079889,
+BMGC_DS21250,BMG_DS079890,
+BMGC_DS21251,BMG_DS079891,
+BMGC_DS21252,BMG_DS079892,
+BMGC_DS21253,BMG_DS079893,
+BMGC_DS21254,BMG_DS079894,
+BMGC_DS21255,BMG_DS079895,
+BMGC_DS21256,BMG_DS079896,
+BMGC_DS21257,BMG_DS079897,
+BMGC_DS21258,BMG_DS079898,
+BMGC_DS21259,BMG_DS079899,
+BMGC_DS21260,BMG_DS079900,
+BMGC_DS21261,BMG_DS079901,
+BMGC_DS21262,BMG_DS079902,
+BMGC_DS21263,BMG_DS079903,
+BMGC_DS21264,BMG_DS079904,
+BMGC_DS21265,BMG_DS079905,
+BMGC_DS21266,BMG_DS079906,
+BMGC_DS21267,BMG_DS079908,
+BMGC_DS21268,BMG_DS079909,
+BMGC_DS21269,BMG_DS079910,
+BMGC_DS21270,BMG_DS079911,
+BMGC_DS21271,BMG_DS079912,
+BMGC_DS21272,BMG_DS079913,
+BMGC_DS21273,BMG_DS079914,
+BMGC_DS21274,BMG_DS079915,
+BMGC_DS21275,BMG_DS079916,
+BMGC_DS21276,BMG_DS079918,
+BMGC_DS21277,BMG_DS079919,
+BMGC_DS21278,BMG_DS079920,
+BMGC_DS21279,BMG_DS079921,
+BMGC_DS21280,BMG_DS079922,
+BMGC_DS21281,BMG_DS079923,
+BMGC_DS21282,BMG_DS079924,
+BMGC_DS21283,BMG_DS079925,
+BMGC_DS21284,BMG_DS079926,
+BMGC_DS21285,BMG_DS079927,
+BMGC_DS21286,BMG_DS079928,
+BMGC_DS21287,BMG_DS079929,
+BMGC_DS21288,BMG_DS079930,
+BMGC_DS21289,BMG_DS079931,
+BMGC_DS21290,BMG_DS079932,
+BMGC_DS21291,BMG_DS079933,
+BMGC_DS21292,BMG_DS079934,
+BMGC_DS21293,BMG_DS079935,
+BMGC_DS21294,BMG_DS079936,
+BMGC_DS21295,BMG_DS079937,
+BMGC_DS21296,BMG_DS079938,
+BMGC_DS21297,BMG_DS079939,
+BMGC_DS21298,BMG_DS079940,
+BMGC_DS21299,BMG_DS079941,
+BMGC_DS21300,BMG_DS079942,
+BMGC_DS21301,BMG_DS079943,
+BMGC_DS21302,BMG_DS079944,
+BMGC_DS21303,BMG_DS079945,
+BMGC_DS21304,BMG_DS079946,
+BMGC_DS21305,BMG_DS079947,
+BMGC_DS21306,BMG_DS079948,
+BMGC_DS21307,BMG_DS079949,
+BMGC_DS21308,BMG_DS079950,
+BMGC_DS21309,BMG_DS079951,
+BMGC_DS21310,BMG_DS079952,
+BMGC_DS21311,BMG_DS079953,
+BMGC_DS21312,BMG_DS079954,
+BMGC_DS21313,BMG_DS079955,
+BMGC_DS21314,BMG_DS079956,
+BMGC_DS21315,BMG_DS079957,
+BMGC_DS21316,BMG_DS079958,
+BMGC_DS21317,BMG_DS079959,
+BMGC_DS21318,BMG_DS079960,
+BMGC_DS21319,BMG_DS079961,
+BMGC_DS21320,BMG_DS079962,
+BMGC_DS21321,BMG_DS079963,
+BMGC_DS21322,BMG_DS079964,
+BMGC_DS21323,BMG_DS079965,
+BMGC_DS21324,BMG_DS079966,
+BMGC_DS21325,BMG_DS079967,
+BMGC_DS21326,BMG_DS079968,
+BMGC_DS21327,BMG_DS079969,
+BMGC_DS21328,BMG_DS079970,
+BMGC_DS21329,BMG_DS079971,
+BMGC_DS21330,BMG_DS079972,
+BMGC_DS21331,BMG_DS079973,
+BMGC_DS21332,BMG_DS079974,
+BMGC_DS21333,BMG_DS079975,
+BMGC_DS21334,BMG_DS079976,
+BMGC_DS21335,BMG_DS079977,
+BMGC_DS21336,BMG_DS079978,
+BMGC_DS21337,BMG_DS079979,
+BMGC_DS21338,BMG_DS079980,
+BMGC_DS21339,BMG_DS079981,
+BMGC_DS21340,BMG_DS079982,
+BMGC_DS21341,BMG_DS079983,
+BMGC_DS21342,BMG_DS079984,
+BMGC_DS21343,BMG_DS079985,
+BMGC_DS21344,BMG_DS079986,
+BMGC_DS21345,BMG_DS079987,
+BMGC_DS21346,BMG_DS079988,
+BMGC_DS21347,BMG_DS079989,
+BMGC_DS21348,BMG_DS079990,
+BMGC_DS21349,BMG_DS079991,
+BMGC_DS21350,BMG_DS079992,
+BMGC_DS21351,BMG_DS079993,
+BMGC_DS21352,BMG_DS079994,
+BMGC_DS21353,BMG_DS079995,
+BMGC_DS21354,BMG_DS079996,
+BMGC_DS21355,BMG_DS079997,
+BMGC_DS21356,BMG_DS079998,
+BMGC_DS21357,BMG_DS079999,
+BMGC_DS21358,BMG_DS080000,
+BMGC_DS21359,BMG_DS080001,
+BMGC_DS21360,BMG_DS080002,
+BMGC_DS21361,BMG_DS080003,
+BMGC_DS21362,BMG_DS080004,
+BMGC_DS21363,BMG_DS080005,
+BMGC_DS21364,BMG_DS080006,
+BMGC_DS21365,BMG_DS080007,
+BMGC_DS21366,BMG_DS080008,
+BMGC_DS21367,BMG_DS080009,
+BMGC_DS21368,BMG_DS080010,
+BMGC_DS21369,BMG_DS080011,
+BMGC_DS21370,BMG_DS080012,
+BMGC_DS21371,BMG_DS080013,
+BMGC_DS21372,BMG_DS080014,
+BMGC_DS21373,BMG_DS080015,
+BMGC_DS21374,BMG_DS080016,
+BMGC_DS21375,BMG_DS080017,
+BMGC_DS21376,BMG_DS080018,
+BMGC_DS21377,BMG_DS080019,
+BMGC_DS21378,BMG_DS080020,
+BMGC_DS21379,BMG_DS080021,
+BMGC_DS21380,BMG_DS080022,
+BMGC_DS21381,BMG_DS080023,
+BMGC_DS21382,BMG_DS080024,
+BMGC_DS21383,BMG_DS080025,
+BMGC_DS21384,BMG_DS080026,
+BMGC_DS21385,BMG_DS080027,
+BMGC_DS21386,BMG_DS080028,
+BMGC_DS21387,BMG_DS080029,
+BMGC_DS21388,BMG_DS080030,
+BMGC_DS21389,BMG_DS080031,
+BMGC_DS21390,BMG_DS080032,
+BMGC_DS21391,BMG_DS080033,
+BMGC_DS21392,BMG_DS080034,
+BMGC_DS21393,BMG_DS080035,
+BMGC_DS21394,BMG_DS080036,
+BMGC_DS21395,BMG_DS080037,
+BMGC_DS21396,BMG_DS080038,
+BMGC_DS21397,BMG_DS080039,
+BMGC_DS21398,BMG_DS080040,
+BMGC_DS21399,BMG_DS080041,
+BMGC_DS21400,BMG_DS080042,
+BMGC_DS21401,BMG_DS080043,
+BMGC_DS21402,BMG_DS080044,
+BMGC_DS21403,BMG_DS080045,
+BMGC_DS21404,BMG_DS080046,
+BMGC_DS21405,BMG_DS080047,
+BMGC_DS21406,BMG_DS080048,
+BMGC_DS21407,BMG_DS080049,
+BMGC_DS21408,BMG_DS080050,
+BMGC_DS21409,BMG_DS080051,
+BMGC_DS21410,BMG_DS080052,
+BMGC_DS21411,BMG_DS080053,
+BMGC_DS21412,BMG_DS080054,
+BMGC_DS21413,BMG_DS080055,
+BMGC_DS21414,BMG_DS080056,
+BMGC_DS21415,BMG_DS080057,
+BMGC_DS21416,BMG_DS080058,
+BMGC_DS21417,BMG_DS080059,
+BMGC_DS21418,BMG_DS080060,
+BMGC_DS21419,BMG_DS080061,
+BMGC_DS21420,BMG_DS080062,
+BMGC_DS21421,BMG_DS080063,
+BMGC_DS21422,BMG_DS080064,
+BMGC_DS21423,BMG_DS080065,
+BMGC_DS21424,BMG_DS080066,
+BMGC_DS21425,BMG_DS080067,
+BMGC_DS21426,BMG_DS080068,
+BMGC_DS21427,BMG_DS080069,
+BMGC_DS21428,BMG_DS080070,
+BMGC_DS21429,BMG_DS080071,
+BMGC_DS21430,BMG_DS080072,
+BMGC_DS21431,BMG_DS080073,
+BMGC_DS21432,BMG_DS080074,
+BMGC_DS21433,BMG_DS080075,
+BMGC_DS21434,BMG_DS080076,
+BMGC_DS21435,BMG_DS080077,
+BMGC_DS21436,BMG_DS080078,
+BMGC_DS21437,BMG_DS080079,
+BMGC_DS21438,BMG_DS080080,
+BMGC_DS21439,BMG_DS080081,
+BMGC_DS21440,BMG_DS080082,
+BMGC_DS21441,BMG_DS080083,
+BMGC_DS21442,BMG_DS080084,
+BMGC_DS21443,BMG_DS080085,
+BMGC_DS21444,BMG_DS080086,
+BMGC_DS21445,BMG_DS080087,
+BMGC_DS21446,BMG_DS080088,
+BMGC_DS21447,BMG_DS080089,
+BMGC_DS21448,BMG_DS080090,
+BMGC_DS21449,BMG_DS080091,
+BMGC_DS21450,BMG_DS080092,
+BMGC_DS21451,BMG_DS080093,
+BMGC_DS21452,BMG_DS080094,
+BMGC_DS21453,BMG_DS080095,
+BMGC_DS21454,BMG_DS080096,
+BMGC_DS21455,BMG_DS080097,
+BMGC_DS21456,BMG_DS080098,
+BMGC_DS21457,BMG_DS080099,
+BMGC_DS21458,BMG_DS080100,
+BMGC_DS21459,BMG_DS080101,
+BMGC_DS21460,BMG_DS080102,
+BMGC_DS21461,BMG_DS080103,
+BMGC_DS21462,BMG_DS080104,
+BMGC_DS21463,BMG_DS080105,
+BMGC_DS21464,BMG_DS080106,
+BMGC_DS21465,BMG_DS080107,
+BMGC_DS21466,BMG_DS080108,
+BMGC_DS21467,BMG_DS080109,
+BMGC_DS21468,BMG_DS080110,
+BMGC_DS21469,BMG_DS080111,
+BMGC_DS21470,BMG_DS080112,
+BMGC_DS21471,BMG_DS080113,
+BMGC_DS21472,BMG_DS080114,
+BMGC_DS21473,BMG_DS080115,
+BMGC_DS21474,BMG_DS080116,
+BMGC_DS21475,BMG_DS080117,
+BMGC_DS21476,BMG_DS080118,
+BMGC_DS21477,BMG_DS080119,
+BMGC_DS21478,BMG_DS080120,
+BMGC_DS21479,BMG_DS080121,
+BMGC_DS21480,BMG_DS080122,
+BMGC_DS21481,BMG_DS080123,
+BMGC_DS21482,BMG_DS080124,
+BMGC_DS21483,BMG_DS080125,
+BMGC_DS21484,BMG_DS080126,
+BMGC_DS21485,BMG_DS080127,
+BMGC_DS21486,BMG_DS080128,
+BMGC_DS21487,BMG_DS080129,
+BMGC_DS21488,BMG_DS080130,
+BMGC_DS21489,BMG_DS080131,
+BMGC_DS21490,BMG_DS080132,
+BMGC_DS21491,BMG_DS080133,
+BMGC_DS21492,BMG_DS080134,
+BMGC_DS21493,BMG_DS080135,
+BMGC_DS21494,BMG_DS080136,
+BMGC_DS21495,BMG_DS080137,
+BMGC_DS21496,BMG_DS080138,
+BMGC_DS21497,BMG_DS080139,
+BMGC_DS21498,BMG_DS080140,
+BMGC_DS21499,BMG_DS080141,
+BMGC_DS21500,BMG_DS080142,
+BMGC_DS21501,BMG_DS080143,
+BMGC_DS21502,BMG_DS080144,
+BMGC_DS21503,BMG_DS080145,
+BMGC_DS21504,BMG_DS080146,
+BMGC_DS21505,BMG_DS080147,
+BMGC_DS21506,BMG_DS080148,
+BMGC_DS21507,BMG_DS080149,
+BMGC_DS21508,BMG_DS080150,
+BMGC_DS21509,BMG_DS080151,
+BMGC_DS21510,BMG_DS080152,
+BMGC_DS21511,BMG_DS080153,
+BMGC_DS21512,BMG_DS080154,
+BMGC_DS21513,BMG_DS080155,
+BMGC_DS21514,BMG_DS080156,
+BMGC_DS21515,BMG_DS080157,
+BMGC_DS21516,BMG_DS080158,
+BMGC_DS21517,BMG_DS080159,
+BMGC_DS21518,BMG_DS080160,
+BMGC_DS21519,BMG_DS080161,
+BMGC_DS21520,BMG_DS080162,
+BMGC_DS21521,BMG_DS080163,
+BMGC_DS21522,BMG_DS080164,
+BMGC_DS21523,BMG_DS080165,
+BMGC_DS21524,BMG_DS080166,
+BMGC_DS21525,BMG_DS080167,
+BMGC_DS21526,BMG_DS080168,
+BMGC_DS21527,BMG_DS080169,
+BMGC_DS21528,BMG_DS080170,
+BMGC_DS21529,BMG_DS080171,
+BMGC_DS21530,BMG_DS080172,
+BMGC_DS21531,BMG_DS080173,
+BMGC_DS21532,BMG_DS080174,
+BMGC_DS21533,BMG_DS080175,
+BMGC_DS21534,BMG_DS080176,
+BMGC_DS21535,BMG_DS080177,
+BMGC_DS21536,BMG_DS080178,
+BMGC_DS21537,BMG_DS080179,
+BMGC_DS21538,BMG_DS080180,
+BMGC_DS21539,BMG_DS080181,
+BMGC_DS21540,BMG_DS080182,
+BMGC_DS21541,BMG_DS080183,
+BMGC_DS21542,BMG_DS080184,
+BMGC_DS21543,BMG_DS080185,
+BMGC_DS21544,BMG_DS080186,
+BMGC_DS21545,BMG_DS080187,
+BMGC_DS21546,BMG_DS080188,
+BMGC_DS21547,BMG_DS080189,
+BMGC_DS21548,BMG_DS080190,
+BMGC_DS21549,BMG_DS080191,
+BMGC_DS21550,BMG_DS080192,
+BMGC_DS21551,BMG_DS080193,
+BMGC_DS21552,BMG_DS080194,
+BMGC_DS21553,BMG_DS080195,
+BMGC_DS21554,BMG_DS080196,
+BMGC_DS21555,BMG_DS080197,
+BMGC_DS21556,BMG_DS080198,
+BMGC_DS21557,BMG_DS080199,
+BMGC_DS21558,BMG_DS080200,
+BMGC_DS21559,BMG_DS080201,
+BMGC_DS21560,BMG_DS080202,
+BMGC_DS21561,BMG_DS080203,
+BMGC_DS21562,BMG_DS080204,
+BMGC_DS21563,BMG_DS080205,
+BMGC_DS21564,BMG_DS080206,
+BMGC_DS21565,BMG_DS080207,
+BMGC_DS21566,BMG_DS080208,
+BMGC_DS21567,BMG_DS080209,
+BMGC_DS21568,BMG_DS080210,
+BMGC_DS21569,BMG_DS080211,
+BMGC_DS21570,BMG_DS080212,
+BMGC_DS21571,BMG_DS080213,
+BMGC_DS21572,BMG_DS080214,
+BMGC_DS21573,BMG_DS080215,
+BMGC_DS21574,BMG_DS080216,
+BMGC_DS21575,BMG_DS080217,
+BMGC_DS21576,BMG_DS080218,
+BMGC_DS21577,BMG_DS080219,
+BMGC_DS21578,BMG_DS080220,
+BMGC_DS21579,BMG_DS080221,
+BMGC_DS21580,BMG_DS080222,
+BMGC_DS21581,BMG_DS080223,
+BMGC_DS21582,BMG_DS080224,
+BMGC_DS21583,BMG_DS080225,
+BMGC_DS21584,BMG_DS080226,
+BMGC_DS21585,BMG_DS080227,
+BMGC_DS21586,BMG_DS080228,
+BMGC_DS21587,BMG_DS080229,
+BMGC_DS21588,BMG_DS080230,
+BMGC_DS21589,BMG_DS080231,
+BMGC_DS21590,BMG_DS080232,
+BMGC_DS21591,BMG_DS080233,
+BMGC_DS21592,BMG_DS080234,
+BMGC_DS21593,BMG_DS080235,
+BMGC_DS21594,BMG_DS080236,
+BMGC_DS21595,BMG_DS080237,
+BMGC_DS21596,BMG_DS080238,
+BMGC_DS21597,BMG_DS080239,
+BMGC_DS21598,BMG_DS080240,
+BMGC_DS21599,BMG_DS080241,
+BMGC_DS21600,BMG_DS080242,
+BMGC_DS21601,BMG_DS080243,
+BMGC_DS21602,BMG_DS080244,
+BMGC_DS21603,BMG_DS080245,
+BMGC_DS21604,BMG_DS080246,
+BMGC_DS21605,BMG_DS080247,
+BMGC_DS21606,BMG_DS080248,
+BMGC_DS21607,BMG_DS080249,
+BMGC_DS21608,BMG_DS080250,
+BMGC_DS21609,BMG_DS080251,
+BMGC_DS21610,BMG_DS080252,
+BMGC_DS21611,BMG_DS080253,
+BMGC_DS21612,BMG_DS080254,
+BMGC_DS21613,BMG_DS080255,
+BMGC_DS21614,BMG_DS080256,
+BMGC_DS21615,BMG_DS080257,
+BMGC_DS21616,BMG_DS080258,
+BMGC_DS21617,BMG_DS080259,
+BMGC_DS21618,BMG_DS080260,
+BMGC_DS21619,BMG_DS080261,
+BMGC_DS21620,BMG_DS080262,
+BMGC_DS21621,BMG_DS080263,
+BMGC_DS21622,BMG_DS080264,
+BMGC_DS21623,BMG_DS080265,
+BMGC_DS21624,BMG_DS080266,
+BMGC_DS21625,BMG_DS080267,
+BMGC_DS21626,BMG_DS080268,
+BMGC_DS21627,BMG_DS080269,
+BMGC_DS21628,BMG_DS080270,
+BMGC_DS21629,BMG_DS080271,
+BMGC_DS21630,BMG_DS080272,
+BMGC_DS21631,BMG_DS080273,
+BMGC_DS21632,BMG_DS080274,
+BMGC_DS21633,BMG_DS080275,
+BMGC_DS21634,BMG_DS080276,
+BMGC_DS21635,BMG_DS080277,
+BMGC_DS21636,BMG_DS080278,
+BMGC_DS21637,BMG_DS080279,
+BMGC_DS21638,BMG_DS080280,
+BMGC_DS21639,BMG_DS080281,
+BMGC_DS21640,BMG_DS080282,
+BMGC_DS21641,BMG_DS080283,
+BMGC_DS21642,BMG_DS080284,
+BMGC_DS21643,BMG_DS080285,
+BMGC_DS21644,BMG_DS080286,
+BMGC_DS21645,BMG_DS080287,
+BMGC_DS21646,BMG_DS080288,
+BMGC_DS21647,BMG_DS080289,
+BMGC_DS21648,BMG_DS080290,
+BMGC_DS21649,BMG_DS080291,
+BMGC_DS21650,BMG_DS080292,
+BMGC_DS21651,BMG_DS080293,
+BMGC_DS21652,BMG_DS080294,
+BMGC_DS21653,BMG_DS080295,
+BMGC_DS21654,BMG_DS080296,
+BMGC_DS21655,BMG_DS080297,
+BMGC_DS21656,BMG_DS080298,
+BMGC_DS21657,BMG_DS080299,
+BMGC_DS21658,BMG_DS080300,
+BMGC_DS21659,BMG_DS080301,
+BMGC_DS21660,BMG_DS080302,
+BMGC_DS21661,BMG_DS080303,
+BMGC_DS21662,BMG_DS080304,
+BMGC_DS21663,BMG_DS080305,
+BMGC_DS21664,BMG_DS080306,
+BMGC_DS21665,BMG_DS080307,
+BMGC_DS21666,BMG_DS080308,
+BMGC_DS21667,BMG_DS080309,
+BMGC_DS21668,BMG_DS080310,
+BMGC_DS21669,BMG_DS080311,
+BMGC_DS21670,BMG_DS080312,
+BMGC_DS21671,BMG_DS080313,
+BMGC_DS21672,BMG_DS080314,
+BMGC_DS21673,BMG_DS080315,
+BMGC_DS21674,BMG_DS080316,
+BMGC_DS21675,BMG_DS080317,
+BMGC_DS21676,BMG_DS080318,
+BMGC_DS21677,BMG_DS080319,
+BMGC_DS21678,BMG_DS080320,
+BMGC_DS21679,BMG_DS080321,
+BMGC_DS21680,BMG_DS080322,
+BMGC_DS21681,BMG_DS080323,
+BMGC_DS21682,BMG_DS080325,
+BMGC_DS21683,BMG_DS080326,
+BMGC_DS21684,BMG_DS080327,
+BMGC_DS21685,BMG_DS080328,
+BMGC_DS21686,BMG_DS080329,
+BMGC_DS21687,BMG_DS080330,
+BMGC_DS21688,BMG_DS080331,
+BMGC_DS21689,BMG_DS080332,
+BMGC_DS21690,BMG_DS080333,
+BMGC_DS21691,BMG_DS080334,
+BMGC_DS21692,BMG_DS080335,
+BMGC_DS21693,BMG_DS080336,
+BMGC_DS21694,BMG_DS080337,
+BMGC_DS21695,BMG_DS080338,
+BMGC_DS21696,BMG_DS080339,
+BMGC_DS21697,BMG_DS080340,
+BMGC_DS21698,BMG_DS080341,
+BMGC_DS21699,BMG_DS080342,
+BMGC_DS21700,BMG_DS080343,
+BMGC_DS21701,BMG_DS080344,
+BMGC_DS21702,BMG_DS080345,
+BMGC_DS21703,BMG_DS080346,
+BMGC_DS21704,BMG_DS080347,
+BMGC_DS21705,BMG_DS080348,
+BMGC_DS21706,BMG_DS080349,
+BMGC_DS21707,BMG_DS080350,
+BMGC_DS21708,BMG_DS080351,
+BMGC_DS21709,BMG_DS080352,
+BMGC_DS21710,BMG_DS080353,
+BMGC_DS21711,BMG_DS080354,
+BMGC_DS21712,BMG_DS080355,
+BMGC_DS21713,BMG_DS080356,
+BMGC_DS21714,BMG_DS080357,
+BMGC_DS21715,BMG_DS080358,
+BMGC_DS21716,BMG_DS080359,
+BMGC_DS21717,BMG_DS080360,
+BMGC_DS21718,BMG_DS080361,
+BMGC_DS21719,BMG_DS080362,
+BMGC_DS21720,BMG_DS080363,
+BMGC_DS21721,BMG_DS080364,
+BMGC_DS21722,BMG_DS080365,
+BMGC_DS21723,BMG_DS080366,
+BMGC_DS21724,BMG_DS080367,
+BMGC_DS21725,BMG_DS080368,
+BMGC_DS21726,BMG_DS080369,
+BMGC_DS21727,BMG_DS080370,
+BMGC_DS21728,BMG_DS080371,
+BMGC_DS21729,BMG_DS080372,
+BMGC_DS21730,BMG_DS080373,
+BMGC_DS21731,BMG_DS080374,
+BMGC_DS21732,BMG_DS080375,
+BMGC_DS21733,BMG_DS080376,
+BMGC_DS21734,BMG_DS080377,
+BMGC_DS21735,BMG_DS080378,
+BMGC_DS21736,BMG_DS080379,
+BMGC_DS21737,BMG_DS080380,
+BMGC_DS21738,BMG_DS080381,
+BMGC_DS21739,BMG_DS080382,
+BMGC_DS21740,BMG_DS080383,
+BMGC_DS21741,BMG_DS080384,
+BMGC_DS21742,BMG_DS080385,
+BMGC_DS21743,BMG_DS080386,
+BMGC_DS21744,BMG_DS080387,
+BMGC_DS21745,BMG_DS080388,
+BMGC_DS21746,BMG_DS080389,
+BMGC_DS21747,BMG_DS080391,
+BMGC_DS21748,BMG_DS080392,
+BMGC_DS21749,BMG_DS080393,
+BMGC_DS21750,BMG_DS080394,
+BMGC_DS21751,BMG_DS080395,
+BMGC_DS21752,BMG_DS080396,
+BMGC_DS21753,BMG_DS080397,
+BMGC_DS21754,BMG_DS080398,
+BMGC_DS21755,BMG_DS080399,
+BMGC_DS21756,BMG_DS080400,
+BMGC_DS21757,BMG_DS080401,
+BMGC_DS21758,BMG_DS080402,
+BMGC_DS21759,BMG_DS080403,
+BMGC_DS21760,BMG_DS080404,
+BMGC_DS21761,BMG_DS080405,
+BMGC_DS21762,BMG_DS080406,
+BMGC_DS21763,BMG_DS080407,
+BMGC_DS21764,BMG_DS080408,
+BMGC_DS21765,BMG_DS080409,
+BMGC_DS21766,BMG_DS080410,
+BMGC_DS21767,BMG_DS080411,
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+BMGC_DS21769,BMG_DS080413,
+BMGC_DS21770,BMG_DS080414,
+BMGC_DS21771,BMG_DS080415,
+BMGC_DS21772,BMG_DS080416,
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+BMGC_DS21775,BMG_DS080419,
+BMGC_DS21776,BMG_DS080420,
+BMGC_DS21777,BMG_DS080421,
+BMGC_DS21778,BMG_DS080422,
+BMGC_DS21779,BMG_DS080423,
+BMGC_DS21780,BMG_DS080424,
+BMGC_DS21781,BMG_DS080425,
+BMGC_DS21782,BMG_DS080426,
+BMGC_DS21783,BMG_DS080427,
+BMGC_DS21784,BMG_DS080428,
+BMGC_DS21785,BMG_DS080429,
+BMGC_DS21786,BMG_DS080430,
+BMGC_DS21787,BMG_DS080431,
+BMGC_DS21788,BMG_DS080432,
+BMGC_DS21789,BMG_DS080433,
+BMGC_DS21790,BMG_DS080434,
+BMGC_DS21791,BMG_DS080435,
+BMGC_DS21792,BMG_DS080436,
+BMGC_DS21793,BMG_DS080437,
+BMGC_DS21794,BMG_DS080438,
+BMGC_DS21795,BMG_DS080439,
+BMGC_DS21796,BMG_DS080440,
+BMGC_DS21797,BMG_DS080441,
+BMGC_DS21798,BMG_DS080442,
+BMGC_DS21799,BMG_DS080443,
+BMGC_DS21800,BMG_DS080444,
+BMGC_DS21801,BMG_DS080445,
+BMGC_DS21802,BMG_DS080446,
+BMGC_DS21803,BMG_DS080448,
+BMGC_DS21804,BMG_DS080449,
+BMGC_DS21805,BMG_DS080450,
+BMGC_DS21806,BMG_DS080451,
+BMGC_DS21807,BMG_DS080452,
+BMGC_DS21808,BMG_DS080454,
+BMGC_DS21809,BMG_DS080455,
+BMGC_DS21810,BMG_DS080456,
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+BMGC_DS21812,BMG_DS080458,
+BMGC_DS21813,BMG_DS080459,
+BMGC_DS21814,BMG_DS080460,
+BMGC_DS21815,BMG_DS080461,
+BMGC_DS21816,BMG_DS080462,
+BMGC_DS21817,BMG_DS080463,
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+BMGC_DS21819,BMG_DS080465,
+BMGC_DS21820,BMG_DS080466,
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+BMGC_DS21822,BMG_DS080468,
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+BMGC_DS21825,BMG_DS080471,
+BMGC_DS21826,BMG_DS080472,
+BMGC_DS21827,BMG_DS080473,
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+BMGC_DS21830,BMG_DS080476,
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+BMGC_DS21835,BMG_DS080481,
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+BMGC_DS21837,BMG_DS080483,
+BMGC_DS21838,BMG_DS080484,
+BMGC_DS21839,BMG_DS080485,
+BMGC_DS21840,BMG_DS080486,
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+BMGC_DS21842,BMG_DS080488,
+BMGC_DS21843,BMG_DS080489,
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+BMGC_DS21845,BMG_DS080491,
+BMGC_DS21846,BMG_DS080492,
+BMGC_DS21847,BMG_DS080493,
+BMGC_DS21848,BMG_DS080494,
+BMGC_DS21849,BMG_DS080495,
+BMGC_DS21850,BMG_DS080496,
+BMGC_DS21851,BMG_DS080497,
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+BMGC_DS21854,BMG_DS080500,
+BMGC_DS21855,BMG_DS080501,
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+BMGC_DS21870,BMG_DS080516,
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+BMGC_DS21875,BMG_DS080521,
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+BMGC_DS21878,BMG_DS080524,
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+BMGC_DS21881,BMG_DS080527,
+BMGC_DS21882,BMG_DS080528,
+BMGC_DS21883,BMG_DS080529,
+BMGC_DS21884,BMG_DS080530,
+BMGC_DS21885,BMG_DS080531,
+BMGC_DS21886,BMG_DS080532,
+BMGC_DS21887,BMG_DS080533,
+BMGC_DS21888,BMG_DS080534,
+BMGC_DS21889,BMG_DS080535,
+BMGC_DS21890,BMG_DS080536,
+BMGC_DS21891,BMG_DS080537,
+BMGC_DS21892,BMG_DS080538,
+BMGC_DS21893,BMG_DS080539,
+BMGC_DS21894,BMG_DS080540,
+BMGC_DS21895,BMG_DS080541,
+BMGC_DS21896,BMG_DS080542,
+BMGC_DS21897,BMG_DS080543,
+BMGC_DS21898,BMG_DS080544,
+BMGC_DS21899,BMG_DS080545,
+BMGC_DS21900,BMG_DS080546,
+BMGC_DS21901,BMG_DS080547,
+BMGC_DS21902,BMG_DS080548,
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+BMGC_DS21904,BMG_DS080550,
+BMGC_DS21905,BMG_DS080551,
+BMGC_DS21906,BMG_DS080552,
+BMGC_DS21907,BMG_DS080553,
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+BMGC_DS21913,BMG_DS080559,
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+BMGC_DS21916,BMG_DS080562,
+BMGC_DS21917,BMG_DS080563,
+BMGC_DS21918,BMG_DS080564,
+BMGC_DS21919,BMG_DS080565,
+BMGC_DS21920,BMG_DS080566,
+BMGC_DS21921,BMG_DS080567,
+BMGC_DS21922,BMG_DS080568,
+BMGC_DS21923,BMG_DS080569,
+BMGC_DS21924,BMG_DS080570,
+BMGC_DS21925,BMG_DS080571,
+BMGC_DS21926,BMG_DS080572,
+BMGC_DS21927,BMG_DS080573,
+BMGC_DS21928,BMG_DS080574,
+BMGC_DS21929,BMG_DS080575,
+BMGC_DS21930,BMG_DS080576,
+BMGC_DS21931,BMG_DS080577,
+BMGC_DS21932,BMG_DS080578,
+BMGC_DS21933,BMG_DS080579,
+BMGC_DS21934,BMG_DS080580,
+BMGC_DS21935,BMG_DS080581,
+BMGC_DS21936,BMG_DS080582,
+BMGC_DS21937,BMG_DS080583,
+BMGC_DS21938,BMG_DS080584,
+BMGC_DS21939,BMG_DS080585,
+BMGC_DS21940,BMG_DS080586,
+BMGC_DS21941,BMG_DS080587,
+BMGC_DS21942,BMG_DS080588,
+BMGC_DS21943,BMG_DS080589,
+BMGC_DS21944,BMG_DS080590,
+BMGC_DS21945,BMG_DS080591,
+BMGC_DS21946,BMG_DS080592,
+BMGC_DS21947,BMG_DS080593,
+BMGC_DS21948,BMG_DS080594,
+BMGC_DS21949,BMG_DS080595,
+BMGC_DS21950,BMG_DS080596,
+BMGC_DS21951,BMG_DS080597,
+BMGC_DS21952,BMG_DS080598,
+BMGC_DS21953,BMG_DS080599,
+BMGC_DS21954,BMG_DS080600,
+BMGC_DS21955,BMG_DS080601,
+BMGC_DS21956,BMG_DS080602,
+BMGC_DS21957,BMG_DS080603,
+BMGC_DS21958,BMG_DS080604,
+BMGC_DS21959,BMG_DS080605,
+BMGC_DS21960,BMG_DS080606,
+BMGC_DS21961,BMG_DS080607,
+BMGC_DS21962,BMG_DS080608,
+BMGC_DS21963,BMG_DS080609,
+BMGC_DS21964,BMG_DS080610,
+BMGC_DS21965,BMG_DS080611,
+BMGC_DS21966,BMG_DS080612,
+BMGC_DS21967,BMG_DS080613,
+BMGC_DS21968,BMG_DS080614,
+BMGC_DS21969,BMG_DS080615,
+BMGC_DS21970,BMG_DS080616,
+BMGC_DS21971,BMG_DS080617,
+BMGC_DS21972,BMG_DS080618,
+BMGC_DS21973,BMG_DS080619,
+BMGC_DS21974,BMG_DS080620,
+BMGC_DS21975,BMG_DS080621,
+BMGC_DS21976,BMG_DS080622,
+BMGC_DS21977,BMG_DS080623,
+BMGC_DS21978,BMG_DS080624,
+BMGC_DS21979,BMG_DS080625,
+BMGC_DS21980,BMG_DS080626,
+BMGC_DS21981,BMG_DS080627,
+BMGC_DS21982,BMG_DS080628,
+BMGC_DS21983,BMG_DS080629,
+BMGC_DS21984,BMG_DS080630,
+BMGC_DS21985,BMG_DS080631,
+BMGC_DS21986,BMG_DS080632,
+BMGC_DS21987,BMG_DS080633,
+BMGC_DS21988,BMG_DS080634,
+BMGC_DS21989,BMG_DS080635,
+BMGC_DS21990,BMG_DS080636,
+BMGC_DS21991,BMG_DS080637,
+BMGC_DS21992,BMG_DS080638,
+BMGC_DS21993,BMG_DS080639,
+BMGC_DS21994,BMG_DS080640,
+BMGC_DS21995,BMG_DS080641,
+BMGC_DS21996,BMG_DS080642,
+BMGC_DS21997,BMG_DS080643,
+BMGC_DS21998,BMG_DS080644,
+BMGC_DS21999,BMG_DS080645,
+BMGC_DS22000,BMG_DS080646,
+BMGC_DS22001,BMG_DS080647,
+BMGC_DS22002,BMG_DS080648,
+BMGC_DS22003,BMG_DS080649,
+BMGC_DS22004,BMG_DS080650,
+BMGC_DS22005,BMG_DS080651,
+BMGC_DS22006,BMG_DS080652,
+BMGC_DS22007,BMG_DS080653,
+BMGC_DS22008,BMG_DS080654,
+BMGC_DS22009,BMG_DS080655,
+BMGC_DS22010,BMG_DS080656,
+BMGC_DS22011,BMG_DS080657,
+BMGC_DS22012,BMG_DS080658,
+BMGC_DS22013,BMG_DS080659,
+BMGC_DS22014,BMG_DS080660,
+BMGC_DS22015,BMG_DS080661,
+BMGC_DS22016,BMG_DS080662,
+BMGC_DS22017,BMG_DS080663,
+BMGC_DS22018,BMG_DS080664,
+BMGC_DS22019,BMG_DS080665,
+BMGC_DS22020,BMG_DS080666,
+BMGC_DS22021,BMG_DS080667,
+BMGC_DS22022,BMG_DS080668,
+BMGC_DS22023,BMG_DS080669,
+BMGC_DS22024,BMG_DS080670,
+BMGC_DS22025,BMG_DS080671,
+BMGC_DS22026,BMG_DS080672,
+BMGC_DS22027,BMG_DS080673,
+BMGC_DS22028,BMG_DS080674,
+BMGC_DS22029,BMG_DS080675,
+BMGC_DS22030,BMG_DS080676,
+BMGC_DS22031,BMG_DS080677,
+BMGC_DS22032,BMG_DS080678,
+BMGC_DS22033,BMG_DS080679,
+BMGC_DS22034,BMG_DS080680,
+BMGC_DS22035,BMG_DS080681,
+BMGC_DS22036,BMG_DS080682,
+BMGC_DS22037,BMG_DS080683,
+BMGC_DS22038,BMG_DS080684,
+BMGC_DS22039,BMG_DS080685,
+BMGC_DS22040,BMG_DS080686,
+BMGC_DS22041,BMG_DS080687,
+BMGC_DS22042,BMG_DS080688,
+BMGC_DS22043,BMG_DS080689,
+BMGC_DS22044,BMG_DS080690,
+BMGC_DS22045,BMG_DS080691,
+BMGC_DS22046,BMG_DS080692,
+BMGC_DS22047,BMG_DS080693,
+BMGC_DS22048,BMG_DS080694,
+BMGC_DS22049,BMG_DS080695,
+BMGC_DS22050,BMG_DS080696,
+BMGC_DS22051,BMG_DS080697,
+BMGC_DS22052,BMG_DS080698,
+BMGC_DS22053,BMG_DS080699,
+BMGC_DS22054,BMG_DS080700,
+BMGC_DS22055,BMG_DS080701,
+BMGC_DS22056,BMG_DS080702,
+BMGC_DS22057,BMG_DS080703,
+BMGC_DS22058,BMG_DS080704,
+BMGC_DS22059,BMG_DS080705,
+BMGC_DS22060,BMG_DS080706,
+BMGC_DS22061,BMG_DS080707,
+BMGC_DS22062,BMG_DS080708,
+BMGC_DS22063,BMG_DS080709,
+BMGC_DS22064,BMG_DS080710,
+BMGC_DS22065,BMG_DS080711,
+BMGC_DS22066,BMG_DS080712,
+BMGC_DS22067,BMG_DS080713,
+BMGC_DS22068,BMG_DS080714,
+BMGC_DS22069,BMG_DS080715,
+BMGC_DS22070,BMG_DS080716,
+BMGC_DS22071,BMG_DS080717,
+BMGC_DS22072,BMG_DS080718,
+BMGC_DS22073,BMG_DS080719,
+BMGC_DS22074,BMG_DS080720,
+BMGC_DS22075,BMG_DS080721,
+BMGC_DS22076,BMG_DS080722,
+BMGC_DS22077,BMG_DS080723,
+BMGC_DS22078,BMG_DS080724,
+BMGC_DS22079,BMG_DS080725,
+BMGC_DS22080,BMG_DS080726,
+BMGC_DS22081,BMG_DS080727,
+BMGC_DS22082,BMG_DS080728,
+BMGC_DS22083,BMG_DS080729,
+BMGC_DS22084,BMG_DS080730,
+BMGC_DS22085,BMG_DS080731,
+BMGC_DS22086,BMG_DS080732,
+BMGC_DS22087,BMG_DS080733,
+BMGC_DS22088,BMG_DS080734,
+BMGC_DS22089,BMG_DS080735,
+BMGC_DS22090,BMG_DS080736,
+BMGC_DS22091,BMG_DS080737,
+BMGC_DS22092,BMG_DS080738,
+BMGC_DS22093,BMG_DS080739,
+BMGC_DS22094,BMG_DS080740,
+BMGC_DS22095,BMG_DS080741,
+BMGC_DS22096,BMG_DS080742,
+BMGC_DS22097,BMG_DS080743,
+BMGC_DS22098,BMG_DS080744,
+BMGC_DS22099,BMG_DS080745,
+BMGC_DS22100,BMG_DS080746,
+BMGC_DS22101,BMG_DS080747,
+BMGC_DS22102,BMG_DS080748,
+BMGC_DS22103,BMG_DS080749,
+BMGC_DS22104,BMG_DS080750,
+BMGC_DS22105,BMG_DS080751,
+BMGC_DS22106,BMG_DS080752,
+BMGC_DS22107,BMG_DS080753,
+BMGC_DS22108,BMG_DS080754,
+BMGC_DS22109,BMG_DS080755,
+BMGC_DS22110,BMG_DS080756,
+BMGC_DS22111,BMG_DS080757,
+BMGC_DS22112,BMG_DS080758,
+BMGC_DS22113,BMG_DS080759,
+BMGC_DS22114,BMG_DS080760,
+BMGC_DS22115,BMG_DS080761,
+BMGC_DS22116,BMG_DS080762,
+BMGC_DS22117,BMG_DS080763,
+BMGC_DS22118,BMG_DS080764,
+BMGC_DS22119,BMG_DS080765,
+BMGC_DS22120,BMG_DS080766,
+BMGC_DS22121,BMG_DS080767,
+BMGC_DS22122,BMG_DS080768,
+BMGC_DS22123,BMG_DS080769,
+BMGC_DS22124,BMG_DS080770,
+BMGC_DS22125,BMG_DS080771,
+BMGC_DS22126,BMG_DS080772,
+BMGC_DS22127,BMG_DS080773,
+BMGC_DS22128,BMG_DS080774,
+BMGC_DS22129,BMG_DS080775,
+BMGC_DS22130,BMG_DS080776,
+BMGC_DS22131,BMG_DS080777,
+BMGC_DS22132,BMG_DS080778,
+BMGC_DS22133,BMG_DS080779,
+BMGC_DS22134,BMG_DS080780,
+BMGC_DS22135,BMG_DS080781,
+BMGC_DS22136,BMG_DS080782,
+BMGC_DS22137,BMG_DS080783,
+BMGC_DS22138,BMG_DS080784,
+BMGC_DS22139,BMG_DS080785,
+BMGC_DS22140,BMG_DS080786,
+BMGC_DS22141,BMG_DS080787,
+BMGC_DS22142,BMG_DS080788,
+BMGC_DS22143,BMG_DS080789,
+BMGC_DS22144,BMG_DS080790,
+BMGC_DS22145,BMG_DS080791,
+BMGC_DS22146,BMG_DS080792,
+BMGC_DS22147,BMG_DS080793,
+BMGC_DS22148,BMG_DS080794,
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+BMGC_DS22150,BMG_DS080796,
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+BMGC_DS22153,BMG_DS080799,
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+BMGC_DS22155,BMG_DS080801,
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+BMGC_DS22157,BMG_DS080803,
+BMGC_DS22158,BMG_DS080804,
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+BMGC_DS22160,BMG_DS080806,
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+BMGC_DS22163,BMG_DS080809,
+BMGC_DS22164,BMG_DS080810,
+BMGC_DS22165,BMG_DS080811,
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+BMGC_DS22168,BMG_DS080814,
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+BMGC_DS22171,BMG_DS080817,
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+BMGC_DS22174,BMG_DS080820,
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+BMGC_DS22187,BMG_DS080833,
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+BMGC_DS22195,BMG_DS080841,
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+BMGC_DS22243,BMG_DS081114,
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+BMGC_DS22260,BMG_DS081920,
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+BMGC_DS22427,BMG_DS094697,
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+BMGC_DS22429,BMG_DS118713,