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A number sign (#) is used with this entry because of evidence that Jervell and Lange-Nielsen syndrome-2 (JLNS2) is caused by homozygous or compound heterozygous mutation in the KCNE1 gene (176261) on chromosome 21q22.
Long QT syndrome-5 (LQT5; 613695) is caused by heterozygous mutation in the KCNE1 gene.
Description
... | JERVELL AND LANGE-NIELSEN SYNDROME 2 | c0022387 | 0 | omim | https://www.omim.org/entry/612347 | 2019-09-22T16:01:47 | {"doid": ["2842"], "mesh": ["D029593"], "omim": ["612347"], "orphanet": ["90647", "768"], "genereviews": ["NBK1405"]} |
Ethanol is the type of alcohol found in alcoholic beverages. It is a volatile, flammable, colorless liquid that acts as a central nervous system depressant.[1] Ethanol can impair different types of memory.
Ethanol
Alcoholic beverages
## Contents
* 1 Mode of actions
* 1.1 Effects on the hippocampus
* 1.2... | Effects of alcohol on memory | c0001940 | 1 | wikipedia | https://en.wikipedia.org/wiki/Effects_of_alcohol_on_memory | 2021-01-18T18:59:58 | {"mesh": ["D000425"], "umls": ["C0001940"], "wikidata": ["Q5347361"]} |
Argentine hemorrhagic fever
SpecialtyInfectious disease
Argentine hemorrhagic fever (AHF) or O'Higgins disease, also known in Argentina as mal de los rastrojos (stubble disease) is a hemorrhagic fever and zoonotic infectious disease occurring in Argentina. It is caused by the Junín virus[1] (an arenavirus,... | Argentine hemorrhagic fever | c0019097 | 2 | wikipedia | https://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever | 2021-01-18T18:30:10 | {"mesh": ["D006478"], "umls": ["C0019097"], "icd-9": ["078.7"], "icd-10": ["A96.0"], "orphanet": ["319223"], "wikidata": ["Q2583514"]} |
Bilateral frontalparietal polymicrogyria
Other namesBFPP
Bilateral frontoparietal polymicrogyria is a genetic disorder with autosomal recessive inheritance that causes a cortical malformation. Our brain has folds in the cortex to increase surface area called gyri and patients with polymicrogyri have an inc... | Bilateral frontoparietal polymicrogyria | c1847352 | 3 | wikipedia | https://en.wikipedia.org/wiki/Bilateral_frontoparietal_polymicrogyria | 2021-01-18T19:10:33 | {"gard": ["10784"], "mesh": ["C564652"], "umls": ["C1847352"], "orphanet": ["268940", "101070"], "wikidata": ["Q4907578"]} |
Amaurosis fugax
The arteries of the choroid and iris. The greater part of the sclera has been removed.
SpecialtyNeurology, ophthalmology
SymptomsTemporary fleeting of vision in one or both eyes
ComplicationsStroke[1][2]
DurationSeconds to hours
Amaurosis fugax (Greek amaurosis meaning darkening, dark, ... | Amaurosis fugax | c0149793 | 4 | wikipedia | https://en.wikipedia.org/wiki/Amaurosis_fugax | 2021-01-18T18:33:28 | {"gard": ["9660"], "mesh": ["D020757"], "umls": ["C0149793"], "icd-9": ["362.34"], "icd-10": ["G45.3"], "wikidata": ["Q2146228"]} |
Drug-induced purpura
SpecialtyDermatology
Drug-induced purpura is a skin condition that may be related to platelet destruction, vessel fragility, interference with platelet function, or vasculitis.[1]:824
## See also[edit]
* Food-induced purpura
* Rumpel-Leede sign
* Skin lesion
## References[edit... | Drug-induced purpura | c1264038 | 5 | wikipedia | https://en.wikipedia.org/wiki/Drug-induced_purpura | 2021-01-18T18:40:00 | {"umls": ["C1264038"], "wikidata": ["Q5308822"]} |
The prevalence of HIV/AIDS in Cambodia is among the highest in Asia. Although Cambodia is one of the poorest countries in the world, extensive HIV prevention and control efforts by the Royal Government of Cambodia and its partners have helped to reduce the spread of HIV. Between 2003 and 2005, the estimated HIV p... | HIV/AIDS in Cambodia | None | 6 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Cambodia | 2021-01-18T18:49:51 | {"wikidata": ["Q5629824"]} |
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-55 (EIEE55) is caused by compound heterozygous or homozygous mutation in the PIGP gene (605938) on chromosome 21q22.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see ... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 | c0393706 | 7 | omim | https://www.omim.org/entry/617599 | 2019-09-22T15:45:32 | {"doid": ["0080283"], "omim": ["617599"], "orphanet": ["1934"], "synonyms": ["Alternative titles", "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14"]} |
## Summary
### Clinical characteristics.
Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic faci... | Prolidase Deficiency | c0268532 | 8 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK299584/ | 2021-01-18T21:01:35 | {"mesh": ["D056732"], "synonyms": []} |
Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this templa... | Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG | c1736154 | 9 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=639 | 2021-01-23T18:02:28 | {"umls": ["C1736154"], "icd-10": ["G61.8"], "synonyms": ["Anti-MAG neuropathy", "Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein"]} |
A number sign (#) is used with this entry because of evidence that presynaptic congenital myasthenic syndrome-20 (CMS20) is caused by homozygous or compound heterozygous mutation in the SLC5A7 gene (608761) on chromosome 2q12.
Description
Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular dis... | MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC | c0751884 | 10 | omim | https://www.omim.org/entry/617143 | 2019-09-22T15:46:42 | {"doid": ["0110661"], "mesh": ["D020294"], "omim": ["617143"], "orphanet": ["98914", "590"]} |
For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 (601104).
Clinical Features
De Yebenes et al. (1995) studied a 5-generation Spanish family in which progressive supranuclear palsy was transmitted as an autosomal dominant trait. The proband had... | SUPRANUCLEAR PALSY, PROGRESSIVE, 2 | c0038868 | 11 | omim | https://www.omim.org/entry/609454 | 2019-09-22T16:06:02 | {"doid": ["678"], "mesh": ["D013494"], "omim": ["609454"], "orphanet": ["240071", "683"]} |
A rare, genetic, inborn error of metabolism disorder characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels.
*[v]: View this template
*[t]: Discuss this template
... | S-adenosylhomocysteine hydrolase deficiency | c3151058 | 12 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88618 | 2021-01-23T17:34:25 | {"mesh": ["C564683"], "omim": ["613752"], "umls": ["C3151058"], "icd-10": ["E72.1"]} |
Keratoendotheliitis fugax hereditaria
Other namesKeratitis fugax hereditaria
SpecialtyOphthalmology
Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin[1] (also known as NALP3) that in humans is encoded by the NLRP3 gene [2... | Keratoendotheliitis fugax hereditaria | c1835697 | 13 | wikipedia | https://en.wikipedia.org/wiki/Keratoendotheliitis_fugax_hereditaria | 2021-01-18T18:32:25 | {"mesh": ["C563650"], "umls": ["C1835697"], "wikidata": ["Q55615849"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see 600512.
Clinical Features
Deprez et al. (2007) reported a 5-generation Belgian family with dominantly inherited occipitotemporal lobe epilepsy and migraine with visual aura. Age at onset ranged... | EPILEPSY, FAMILIAL TEMPORAL LOBE, 4 | c1842564 | 14 | omim | https://www.omim.org/entry/611631 | 2019-09-22T16:03:04 | {"doid": ["0060753"], "mesh": ["C536956"], "omim": ["611631"], "orphanet": ["98819"], "synonyms": ["Alternative titles", "EPILEPSY, OCCIPITOTEMPORAL LOBE, AND MIGRAINE WITH AURA"]} |
Disease of children; pediatric comorbidity from COVID-19
Paediatric multisystem inflammatory syndrome (PMIS/PIMS/PIMS-TS)
Other names
* Multisystem inflammatory syndrome in children (MIS-C)[1]
* Multisystem inflammatory syndrome (MIS) in children and adolescents temporally related to COVID-19[2]
* Paediatri... | Multisystem inflammatory syndrome in children | None | 15 | wikipedia | https://en.wikipedia.org/wiki/Multisystem_inflammatory_syndrome_in_children | 2021-01-18T18:52:37 | {"wikidata": ["Q93629491"]} |
Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. ... | Pseudoachondroplasia | c0410538 | 16 | gard | https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia | 2021-01-18T17:58:06 | {"mesh": ["C535819"], "omim": ["177170"], "orphanet": ["750"], "synonyms": ["Pseudoachondroplastic dysplasia", "PSACH", "Pseudoachondroplastic spondyloepiphyseal dysplasia", "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome", "Spondyloepiphyseal dysplasia, pseudoachondroplastic"]} |
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.
## Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births.
## Clinical description
Chi... | Childhood-onset nemaline myopathy | c0546125 | 17 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171439 | 2021-01-23T18:01:18 | {"gard": ["7171"], "mesh": ["D017696"], "omim": ["161800", "256030", "609273", "609284", "609285", "615731", "617336"], "umls": ["C0546125"], "icd-10": ["G71.2"], "synonyms": ["Mild nemaline myopathy"]} |
This article is written like a personal reflection, personal essay, or argumentative essay that states a Wikipedia editor's personal feelings or presents an original argument about a topic. Please help improve it by rewriting it in an encyclopedic style. (September 2009) (Learn how and when to remove this template me... | Articular cartilage damage | c0158073 | 18 | wikipedia | https://en.wikipedia.org/wiki/Articular_cartilage_damage | 2021-01-18T19:02:21 | {"umls": ["C0158073"], "icd-10": ["M24.1"], "wikidata": ["Q938793"]} |
Mucinous adenocarcinoma of ovary is a rare, malignant epithelial tumor of the ovary characterized, macroscopically, by a large, usually unilateral tumor with smooth surface and evenly distributed cystic and solid areas and, histologically, by a complex papillary growth pattern with microscopic cystic glands and n... | Mucinous adenocarcinoma of ovary | c1335167 | 19 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=398961 | 2021-01-23T17:44:42 | {"icd-10": ["C56"], "synonyms": ["Ovarian mucinous adenocarcinoma"]} |
Intracranial dolichoectasias
SpecialtyVascular surgery
The term dolichoectasia means elongation and distension. It is used to characterize arteries throughout the human body which have shown significant deterioration of their tunica intima (and occasionally the tunica media), weakening the vessel walls and cau... | Intracranial dolichoectasias | None | 20 | wikipedia | https://en.wikipedia.org/wiki/Intracranial_dolichoectasias | 2021-01-18T18:55:55 | {"wikidata": ["Q6058362"]} |
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.
## Epidemiology
The prevalence is unknown. Several cases have... | Renal tubulopathy-encephalopathy-liver failure syndrome | c3541471 | 21 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254902 | 2021-01-23T17:16:03 | {"omim": ["124000"], "icd-10": ["E88.8"]} |
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
## Epidemiology
Worldw... | Spinocerebellar ataxia type 17 | c1846707 | 22 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98759 | 2021-01-23T18:24:25 | {"gard": ["10469"], "mesh": ["C564616"], "omim": ["607136"], "umls": ["C1846707"], "icd-10": ["G11.8"], "synonyms": ["HDL4", "Huntington disease-like 4", "SCA17"]} |
Livedo
SpecialtyDermatology
Livedo refers to a form of skin discoloration.[1]
* Livedo reticularis
* Livedo racemosa
* Livedoid dermatitis
* Livedoid vasculitis
## References[edit]
1. ^ "livedo" at Dorland's Medical Dictionary
## External links[edit]
Classification
D
* ICD-10: R23.1
* ICD-... | Livedo | c0332579 | 23 | wikipedia | https://en.wikipedia.org/wiki/Livedo | 2021-01-18T18:53:28 | {"icd-9": ["782.61"], "icd-10": ["R23.1"], "wikidata": ["Q6658154"]} |
Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-steppi... | Laing distal myopathy | c4552004 | 24 | gard | https://rarediseases.info.nih.gov/diseases/10769/laing-distal-myopathy | 2021-01-18T17:59:32 | {"mesh": ["D049310"], "omim": ["160500"], "orphanet": ["59135"], "synonyms": ["Distal myopathy type 1", "Myopathy distal, type 1", "Laing early-onset distal myopathy", "Gowers disease", "MPD1"]} |
Impairment that can result from chemotherapy treatment
Post-chemotherapy cognitive impairment (PCCI) (also known in the scientific community as "CRCIs or Chemotherapy-Related Cognitive Impairments" and in lay terms as chemotherapy-induced cognitive dysfunction or impairment, chemo brain, or chemo fog) describes the ... | Post-chemotherapy cognitive impairment | None | 25 | wikipedia | https://en.wikipedia.org/wiki/Post-chemotherapy_cognitive_impairment | 2021-01-18T18:54:17 | {"wikidata": ["Q1069589"]} |
Fisher et al. (1979) described a family with a seemingly 'new' form of progressive choreoathetosis. Onset was infantile. The movements predominantly affected the legs and also impaired gait. No dementia, seizures, or rigidity was noted. It was designated 'inverted' because of the predominant involvement of the legs, ... | CHOREOATHETOSIS, FAMILIAL INVERTED | c1861569 | 26 | omim | https://www.omim.org/entry/118750 | 2019-09-22T16:43:20 | {"mesh": ["C566127"], "omim": ["118750"], "synonyms": ["Alternative titles", "INFANTILE CHOREOATHETOSIS OF FISHER"]} |
## Clinical Features
Witkop (1979) reported 2 sibs born with white hair, some black locks, and depigmented skin with some brown spots on it. In addition, the infants were handicapped by nystagmus, photophobia, retinal depigmentation, and deafness. He called this disorder the black lock-albinism-deafness syndrome (B... | ERMINE PHENOTYPE | c1856899 | 27 | omim | https://www.omim.org/entry/227010 | 2019-09-22T16:28:07 | {"mesh": ["C535508"], "omim": ["227010"], "orphanet": ["999"], "synonyms": ["Alternative titles", "PIGMENTARY DISORDER WITH HEARING LOSS"]} |
A number sign (#) is used with this entry because of evidence that polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) is caused by homozygous or compound heterozygous mutation in the COL3A1 gene (120180) on chromosome 2q32.
Heterozygous mutation in the COL3A1 gene causes the vascular type ... | POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME | None | 28 | omim | https://www.omim.org/entry/618343 | 2019-09-22T15:42:27 | {"omim": ["618343"]} |
## Summary
### Clinical characteristics.
Individuals with MN1 C-terminal truncation (MCTT) syndrome have mild-to-moderate intellectual disability, severe expressive language delay, dysmorphic facial features (midface hypoplasia, downslanting palpebral fissures, hypertelorism, exophthalmia, short upturned nose, and ... | MN1 C-Terminal Truncation Syndrome | None | 29 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK560443/ | 2021-01-18T21:13:06 | {"synonyms": []} |
Nose fetishism,[1] nose partialism, or nasophilia[2][3] is the partialism (or paraphilia) for the nose. This may include the sexual attraction to a specific form of physical variation of appearance (such as shape and size), or a specific area (for example; the bridge or nostrils). The fetish may manifest itself in a ... | Nose fetishism | None | 30 | wikipedia | https://en.wikipedia.org/wiki/Nose_fetishism | 2021-01-18T18:34:25 | {"wikidata": ["Q3123486"]} |
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 a... | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | c2674173 | 31 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85165 | 2021-01-23T17:34:28 | {"gard": ["9443"], "mesh": ["D000130"], "omim": ["616482"], "umls": ["C2674173"], "icd-10": ["Q77.4"], "synonyms": ["SADDAN"]} |
This article is about pain in the patellofemoral region. For other uses, see Runner's knee.
Patellofemoral pain syndrome
Other namesPatellar overload syndrome, runner's knee,[1] retropatellar pain syndrome[1]
Diagram of the bones of the lower extremity. Rough distribution of areas affected by PFPS highlighted in... | Patellofemoral pain syndrome | c0877149 | 32 | wikipedia | https://en.wikipedia.org/wiki/Patellofemoral_pain_syndrome | 2021-01-18T18:49:33 | {"mesh": ["D046788"], "umls": ["C0877149"], "icd-9": ["719.46"], "icd-10": ["M22.2"], "wikidata": ["Q7144437"]} |
Kleefstra syndrome (KS) is 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.
## Epidemiology
The prevalence is unknown. To date, 114 cases have been described.
## Clin... | Kleefstra syndrome | c0795833 | 33 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261494 | 2021-01-23T18:29:27 | {"gard": ["8672"], "mesh": ["C563043"], "omim": ["610253"], "umls": ["C0795833"], "icd-10": ["Q87.8"]} |
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Cryoglobulinemic vasculitis" – news · newspapers · books · scholar · JSTOR (April 2009) (Learn how and when to remove t... | Cryoglobulinemic vasculitis | c0543697 | 34 | wikipedia | https://en.wikipedia.org/wiki/Cryoglobulinemic_vasculitis | 2021-01-18T18:51:41 | {"mesh": ["C565141"], "umls": ["C0543697", "C0340992"], "orphanet": ["91138"], "wikidata": ["Q5190533"]} |
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There h... | Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome | c1859754 | 35 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1112 | 2021-01-23T18:28:55 | {"gard": ["3051"], "mesh": ["C535881"], "omim": ["207620"], "umls": ["C1859754"], "icd-10": ["Q87.8"], "synonyms": ["Johnson-Munson syndrome"]} |
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... | Distal monosomy 15q | c2675463 | 36 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1596 | 2021-01-23T19:10:27 | {"mesh": ["C567232"], "omim": ["612626"], "umls": ["C2675463"], "icd-10": ["Q93.5"], "synonyms": ["15q26 deletion syndrome", "Distal 15q deletion syndrome", "Monosomy 15q26", "Telomeric 15q deletion syndrome"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant myotonia congenita (Thomsen disease) is caused by heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1; 118425) on chromosome 7q34.
Autosomal recessive myotonia congenita, or Becker disease (255700),... | MYOTONIA CONGENITA, AUTOSOMAL DOMINANT | c2936781 | 37 | omim | https://www.omim.org/entry/160800 | 2019-09-22T16:37:41 | {"doid": ["2106"], "mesh": ["D009224"], "omim": ["160800"], "icd-10": ["G71.12"], "orphanet": ["614"], "synonyms": ["Alternative titles", "THOMSEN DISEASE"], "genereviews": ["NBK1355"]} |
A number sign (#) is used with this entry because of evidence that Ullrich congenital muscular dystrophy-1 (UCMD1) can be caused by mutation in any of 3 genes encoding the subunits of collagen type VI (COL6A1, 120220; COL6A2, 120240; and COL6A3, 120250). Both recessive (homozygous) and dominant (heterozygous) mutatio... | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 | c0410179 | 38 | omim | https://www.omim.org/entry/254090 | 2019-09-22T16:24:43 | {"doid": ["0050558"], "mesh": ["C537521"], "omim": ["254090"], "orphanet": ["75840"], "synonyms": ["Alternative titles", "ULLRICH CONGENITAL MUSCULAR DYSTROPHY", "MUSCULAR DYSTROPHY, SCLEROATONIC", "ULLRICH DISEASE", "ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 22"], ... |
A number sign (#) is used with this entry because choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) is caused by heterozygous mutation in the NKX2-1 gene (600635) on chromosome 14q13.
See also benign hereditary chorea (118700), an allelic disorder with less severe manifestat... | CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION | c1970269 | 39 | omim | https://www.omim.org/entry/610978 | 2019-09-22T16:03:52 | {"mesh": ["C567034"], "omim": ["610978"], "orphanet": ["209905"], "synonyms": ["Alternative titles", "BRAIN-LUNG-THYROID SYNDROME"], "genereviews": ["NBK185066"]} |
Hot spot on a Golden Retriever
Pyotraumatic dermatitis, also known as a hot spot or acute moist dermatitis, is a common infection of the skin surface of dogs, particularly those with thick or long coats.[1] It occurs following self-inflicted trauma of the skin.[1] Pyotraumatic dermatitis rarely affects cats.[1]
## ... | Pyotraumatic dermatitis | c0263214 | 40 | wikipedia | https://en.wikipedia.org/wiki/Pyotraumatic_dermatitis | 2021-01-18T19:01:28 | {"wikidata": ["Q1568766"]} |
## Summary
### Clinical characteristics.
Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (... | Hypomyelination and Congenital Cataract | c1864663 | 41 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK2587/ | 2021-01-18T21:18:16 | {"mesh": ["C567166"], "synonyms": []} |
Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood.
The liver is a part of the digestive system that helps break down food, store energy, and remove waste prod... | Cryptogenic cirrhosis | c0268074 | 42 | medlineplus | https://medlineplus.gov/genetics/condition/cryptogenic-cirrhosis/ | 2021-01-27T08:24:41 | {"mesh": ["C562580"], "omim": ["215600"], "synonyms": []} |
A number sign (#) is used with this entry because of the finding that this form of autosomal recessive deafness, DFNB30, is caused by mutations in the myosin IIIA gene (MYO3A; 606808).
Clinical Features
Walsh et al. (2002) studied a family that traced its ancestry to the Jewish community of Mosul, Iraq. This commun... | DEAFNESS, AUTOSOMAL RECESSIVE 30 | c1846784 | 43 | omim | https://www.omim.org/entry/607101 | 2019-09-22T16:09:43 | {"doid": ["0110489"], "mesh": ["C564624"], "omim": ["607101"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"], "genereviews": ["NBK14... |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.
*[v]: V... | Corpus callosum agenesis-macrocephaly-hypertelorism syndrome | None | 44 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=459074 | 2021-01-23T19:06:36 | {"icd-10": ["Q04.0"], "synonyms": ["7q36.3 microduplication syndrome", "Dup(7)(q36.3)"]} |
## Summary
### Clinical characteristics.
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid β-oxidation. Fatty acid β-oxidation fuels hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores become depleted during prolonged f... | Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | c0220710 | 45 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1424/ | 2021-01-18T21:11:56 | {"mesh": ["C536038"], "synonyms": ["MCAD Deficiency"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to neonatal pulmonary hypertension (PHN) is associated with variation in the CPS1 gene (608307) on chromosome 2q34.
Molecular Genetics
In a study of 31 neonates with persistent pulmonary hypertension, 6 cases of which were idiopathic,... | PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO | c3714958 | 46 | omim | https://www.omim.org/entry/615371 | 2019-09-22T15:52:25 | {"omim": ["615371"]} |
A number sign (#) is used with this entry because of evidence that many genes are involved in the origin and/or progression of this neoplasm.
### Genetic Heterogeneity of Susceptibility to Prostate Cancer
See HPC1 (601518), associated with variation in the RNASEL gene on chromosome 1q25; HPC2 (614731), associated w... | PROSTATE CANCER | c2931456 | 47 | omim | https://www.omim.org/entry/176807 | 2019-09-22T16:35:41 | {"doid": ["10283"], "mesh": ["C537243"], "omim": ["176807"], "icd-9": ["185"], "icd-10": ["C61"], "orphanet": ["1331"]} |
Acheiria /əˈkɪəriə/ is the congenital absence of one or both hands.[1][2]
## Causes[edit]
It can occur in a number of situations which include:[1]
* Amniotic band syndrome, particularly if unilateral
* Cornelia de Lange syndrome
* Fetal hydantoin syndrome
* Incontinentia pigmenti
## References[edit]
1.... | Acheiria | c0265594 | 48 | wikipedia | https://en.wikipedia.org/wiki/Acheiria | 2021-01-18T18:38:39 | {"umls": ["C0265594"], "orphanet": ["294983"], "wikidata": ["Q4673591"]} |
Familial partial lipodystrophy type Köbberling is a rare subtype of early-onset familial partial lipodystrophy (FPL), characterized by fat loss in the lower limbs and abnormal fat increase in other areas. The symptoms are similar to those seen in familial partial lipodystrophy, Dunnigan type (the most common type of ... | Familial partial lipodystrophy type Köbberling | c1720859 | 49 | gard | https://rarediseases.info.nih.gov/diseases/12598/familial-partial-lipodystrophy-type-kobberling | 2021-01-18T18:00:33 | {"mesh": ["D052496"], "omim": ["608600"], "orphanet": ["79084"], "synonyms": ["Familial partial lipodystrophy type 1", "FPLD1", "Familial partial lipodystrophy, Köbberling type"]} |
A rare neuroendocrine neoplasm of pancreas characterized by a high-grade malignant epithelial tumor with neuroendocrine differentiation. Based on histopathologic appearance, a small cell (composed of diffuse sheets of cells) and a large cell type (showing a nesting/trabecular pattern) are distinguished. Synaptophysin... | Neuroendocrine carcinoma of pancreas | c2205506 | 50 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=506098 | 2021-01-23T18:08:29 | {"synonyms": ["Pancreatic NEC", "Pancreatic neuroendocrine carcinoma", "Poorly-differentiated NEN of pancreas", "Poorly-differentiated neuroendocrine neoplasm of pancreas", "Poorly-differentiated pancreatic NEN", "Poorly-differentiated pancreatic neuroendocrine neoplasm"]} |
Intraoperative floppy iris syndrome
SpecialtyOphthalmology
Intraoperative floppy iris syndrome (IFIS) is a complication that may occur during cataract extraction in certain patients. This syndrome is characterized by a flaccid iris which billows in response to ordinary intraocular fluid currents, a propensity ... | Intraoperative floppy iris syndrome | c1688637 | 51 | wikipedia | https://en.wikipedia.org/wiki/Intraoperative_floppy_iris_syndrome | 2021-01-18T18:28:41 | {"icd-9": ["364.81"], "wikidata": ["Q3825451"]} |
A number sign (#) is used with this entry due to evidence that this form of retinitis pigmentosa, designated RP18, is caused by heterozygous mutation in the PRPF3 gene (607301) on chromosome 1q21.
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Clinica... | RETINITIS PIGMENTOSA 18 | c0035334 | 52 | omim | https://www.omim.org/entry/601414 | 2019-09-22T16:14:57 | {"doid": ["0110356"], "mesh": ["D012174"], "omim": ["601414"], "orphanet": ["791"], "genereviews": ["NBK1417"]} |
A rare congenital non-syndromic heart malformation characterized by an imperforate or absent mitral valve. In most cases, there is a univentricular atrioventricular connection to a dominant right ventricle via a tricuspid valve, and a hypoplastic left ventricle. Morphologic heterogeneity is considerable, and hemodyna... | Mitral atresia | c0344760 | 53 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1205 | 2021-01-23T17:17:00 | {"gard": ["3685"], "umls": ["C0344760"], "icd-10": ["Q23.2"]} |
Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported.
*[v]: ... | Fundus pulverulentus | None | 54 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99004 | 2021-01-23T17:55:49 | {"icd-10": ["H35.5"]} |
Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (disp... | Isolated ectopia lentis | c3541518 | 55 | medlineplus | https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis/ | 2021-01-27T08:24:32 | {"gard": ["12251"], "omim": ["129600", "225100"], "synonyms": []} |
## Description
In most vertebrates, including pigs and mice, 2 major L-threonine degradation pathways exist. Tdh catalyzes the first step in 1 of these pathways, wherein L-threonine is converted to glycine and acetyl-CoA. However, in humans, TDH is an expressed pseudogene that produces nonfunctional proteins (Edgar... | L-THREONINE DEHYDROGENASE, PSEUDOGENE | c3888000 | 56 | omim | https://www.omim.org/entry/615174 | 2019-09-22T15:52:59 | {"omim": ["615174"]} |
Stomach disease that is an inflammation of the lining of the stomach
Gastritis
Micrograph showing gastritis. H&E stain.
SpecialtyGastroenterology
SymptomsUpper abdominal pain, nausea, vomiting, bloating, loss of appetite, heartburn[1][2]
ComplicationsBleeding, stomach ulcers, stomach tumors, pernicious anemi... | Gastritis | c0017152 | 57 | wikipedia | https://en.wikipedia.org/wiki/Gastritis | 2021-01-18T18:49:02 | {"mesh": ["D005756"], "umls": ["C0017152"], "icd-9": ["535.0"], "wikidata": ["Q183130"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to microvascular complications of diabetes-4 (MVCD4) is associated with variation in the IL1RN gene (147679) on chromosome 2q14.
Molecular Genetics
Blakemore et al. (1996) studied the IL1RN*2 allele (147679.0001) in 128 patients w... | MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 | c2675112 | 58 | omim | https://www.omim.org/entry/612628 | 2019-09-22T16:00:58 | {"omim": ["612628"], "synonyms": ["Alternative titles", "NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO"]} |
A number sign (#) is used with this entry because of evidence that lateral meningocele syndrome (LMNS) is caused by heterozygous mutation in the NOTCH3 gene (600276) on chromosome 19p13.
Description
Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hyp... | LATERAL MENINGOCELE SYNDROME | c0344487 | 59 | omim | https://www.omim.org/entry/130720 | 2019-09-22T16:41:42 | {"doid": ["0111343"], "omim": ["130720"], "orphanet": ["2789"], "synonyms": ["Alternative titles", "LMS", "LEHMAN SYNDROME"], "genereviews": ["NBK368476"]} |
A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of 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 hypert... | Supravalvular aortic stenosis | c0003499 | 60 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3193 | 2021-01-23T16:55:02 | {"gard": ["743"], "mesh": ["D021921"], "omim": ["185500"], "umls": ["C0003499", "C1305147"], "icd-10": ["Q25.3"], "synonyms": ["SVAS"]} |
Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sist... | Microcephaly-microcornea syndrome, Seemanova type | c2931524 | 61 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2528 | 2021-01-23T17:30:35 | {"gard": ["3627"], "mesh": ["C537536", "C537539"], "umls": ["C0796151", "C2931524"], "icd-10": ["Q87.8"], "synonyms": ["Seemanova-Lesny syndrome"]} |
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
## Epidemiology
Prevalence is estimated to be about 1/250,000 to 1/... | Isolated agammaglobulinemia | c0086438 | 62 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=229717 | 2021-01-23T17:28:10 | {"mesh": ["D000361"], "omim": ["300310", "300755", "601495", "612692", "613500", "613501", "613502", "613506", "615214", "616941"], "umls": ["C0001768", "C0086438"], "icd-10": ["E80.0"], "synonyms": ["Isolated hypogammaglobulinemia"]} |
Persistent adrenarche syndrome
Other namesAdrenal SAHA syndrome[1]
SpecialtyDermatology
Persistent adrenarche syndrome is a cutaneous condition seen typically in thin young women who report great psychological and physical stress in their lives.[1]
## See also[edit]
* SAHA syndrome
* List of cutaneous ... | Persistent adrenarche syndrome | None | 63 | wikipedia | https://en.wikipedia.org/wiki/Persistent_adrenarche_syndrome | 2021-01-18T19:04:12 | {"wikidata": ["Q7170402"]} |
Cancer of the cells that produce cerebrospinal fluid in the ventricles of the brain
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Choroid plexus tumor" – news ·... | Choroid plexus tumor | c0085138 | 64 | wikipedia | https://en.wikipedia.org/wiki/Choroid_plexus_tumor | 2021-01-18T18:31:56 | {"mesh": ["D016545"], "umls": ["C0085138"], "orphanet": ["251896"], "wikidata": ["Q5105211"]} |
## Description
Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine. Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine, whether free or bound to proteins (Ma... | HOMOCYSTEINEMIA | c3495426 | 65 | omim | https://www.omim.org/entry/603174 | 2019-09-22T16:13:18 | {"mesh": ["C566403"], "omim": ["603174"], "synonyms": ["Alternative titles", "HYPERHOMOCYSTEINEMIA"]} |
Typical pulmonary carcinoid tumour
Other namesTypical lung carcinoid tumour, lung carcinoid, typical lung carcinoid
Micrograph of a typical pulmonary carcinoid tumour.
SpecialtyOncology
Typical pulmonary carcinoid tumour is a subtype of pulmonary carcinoid tumour. It is an uncommon low-grade malignant lung... | Typical pulmonary carcinoid tumour | c1708788 | 66 | wikipedia | https://en.wikipedia.org/wiki/Typical_pulmonary_carcinoid_tumour | 2021-01-18T18:44:53 | {"umls": ["C1708788"], "wikidata": ["Q3658376"]} |
Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by th... | Cheilitis glandularis | c0267034 | 67 | gard | https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis | 2021-01-18T18:01:30 | {"mesh": ["C535921"], "omim": ["118330"], "umls": ["C0267034"], "orphanet": ["1221"], "synonyms": []} |
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Other symptoms may include depressions (pits) near the center of the lower lip, small mounds of tissue on the lower lip, or missing ... | Popliteal pterygium syndrome | c0265259 | 68 | gard | https://rarediseases.info.nih.gov/diseases/3242/popliteal-pterygium-syndrome | 2021-01-18T17:58:14 | {"mesh": ["C562509"], "omim": ["119500"], "orphanet": ["1300"], "synonyms": ["Facio-genito-popliteal syndrome", "Popliteal web syndrome", "Cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies", "PPS", "Faciogenitopopliteal syndrome"]} |
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.
## Epidemiolo... | Otopalatodigital syndrome type 2 | c1844696 | 69 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90652 | 2021-01-23T18:07:46 | {"gard": ["5802"], "mesh": ["C538089"], "omim": ["304120"], "umls": ["C1844696"], "icd-10": ["Q87.0"], "synonyms": ["OPD II syndrome", "OPD syndrome 2"]} |
Skin condition
Pachydermatous eosinophilic dermatitis
SpecialtyDermatology
Pachydermatous eosinophilic dermatitis is a skin condition observed in South African black teenage girls and characterized by generalized pruritic papules, hypertrophic genital lesions and peripheral eosinophilia.[1]
## See also[edit]... | Pachydermatous eosinophilic dermatitis | None | 70 | wikipedia | https://en.wikipedia.org/wiki/Pachydermatous_eosinophilic_dermatitis | 2021-01-18T18:50:56 | {"wikidata": ["Q7122118"]} |
"Tourette" redirects here. For other uses, see Tourette (disambiguation).
Neurodevelopmental disorder involving motor and vocal tics
Tourette syndrome
Other namesTourette's syndrome, Tourette's disorder, Gilles de la Tourette syndrome (GTS), combined vocal and multiple motor tic disorder [de la Tourette]
Ge... | Tourette syndrome | c1392622 | 71 | wikipedia | https://en.wikipedia.org/wiki/Tourette_syndrome | 2021-01-18T18:31:03 | {"gard": ["7783"], "mesh": ["C563241", "D005879"], "umls": ["C1392622"], "icd-9": ["307.23307.23"], "icd-10": ["F95.295.2."], "orphanet": ["856"], "wikidata": ["Q191779"]} |
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 v... | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | c4225172 | 72 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=480898 | 2021-01-23T18:35:59 | {"omim": ["616875"]} |
A fibrin ring granuloma, also known as doughnut granuloma, is a histopathological finding that is characteristic of Q fever.[1] On hematoxylin-eosin staining, the fibrin ring granuloma consists of a central lipid vacuole (usually washed-out during fixing and staining, leaving only an empty hole) surrounded by a dense... | Fibrin ring granuloma | c1443897 | 73 | wikipedia | https://en.wikipedia.org/wiki/Fibrin_ring_granuloma | 2021-01-18T18:51:07 | {"umls": ["C1443897"], "wikidata": ["Q5446442"]} |
Seborrhoeic dermatitis
Other namesSeborrhoea, sebopsoriasis, seborrhoeic eczema, pityriasis capitis[1]
An example of seborrhoeic dermatitis between the nose and mouth
SpecialtyDermatology
SymptomsItchy, flaking, greasy, red, and inflamed skin[2][3]
DurationLong term[4]
CausesMultiple factors[4]
Risk... | Seborrhoeic dermatitis | c0036508 | 74 | wikipedia | https://en.wikipedia.org/wiki/Seborrhoeic_dermatitis | 2021-01-18T18:28:38 | {"mesh": ["D012628"], "umls": ["C0036508", "C3806554"], "icd-10": ["L21"], "wikidata": ["Q448310"]} |
Mucosal lentigines
Other namesLabial, penile, and vulvar melanosis, and Melanotic macules
SpecialtyDermatology
Mucosal lentigines is a cutaneous condition characterized by light brown macules on mucosal surfaces.[1]:686
## See also[edit]
* Lentigo
* Skin lesion
## References[edit]
1. ^ James, Willi... | Mucosal lentigines | None | 75 | wikipedia | https://en.wikipedia.org/wiki/Mucosal_lentigines | 2021-01-18T18:35:58 | {"wikidata": ["Q6931263"]} |
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue... | Coloboma | c0009363 | 76 | medlineplus | https://medlineplus.gov/genetics/condition/coloboma/ | 2021-01-27T08:25:20 | {"gard": ["1434", "8502", "1432"], "mesh": ["D003103"], "omim": ["120200", "216820"], "synonyms": []} |
Ménétrier disease is a gastrointestinal condition characterized by overgrowth of the mucous cells (foveola) in the mucous membrane lining the stomach, causing enlarged gastric folds. This leads to excessive mucus production, causing protein loss from the stomach and low or absent levels of stomach acid. Symptoms may ... | Menetrier disease | c0017155 | 77 | gard | https://rarediseases.info.nih.gov/diseases/2436/menetrier-disease | 2021-01-18T17:59:09 | {"mesh": ["D005758"], "omim": ["137280"], "orphanet": ["2494"], "synonyms": ["Giant hypertrophic gastritis", "Giant hypertrophic gastropathy", "Gastroenteropathy, protein losing", "Giant hypertrophy of the gastric mucosa", "Hypertrophic gastropathy"]} |
A number sign (#) is used with this entry because this form of Zellweger syndrome (PBD12A) is caused by homozygous mutation in the PEX19 gene (600279) on chromosome 1q23.
Description
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesi... | PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) | c0043459 | 78 | omim | https://www.omim.org/entry/614886 | 2019-09-22T15:53:49 | {"doid": ["0080486"], "mesh": ["D015211"], "omim": ["614886"], "orphanet": ["912"]} |
Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.
## Epidemiology
OA occurs in 1 in 2500 live births.
## Clinical description
Infants with OA are unable to swallow saliva and are... | Esophageal atresia | c0014850 | 79 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1199 | 2021-01-23T18:37:45 | {"gard": ["6381"], "mesh": ["D004933"], "omim": ["189960"], "umls": ["C0014850"], "icd-10": ["Q39.0", "Q39.1"]} |
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 occ... | Striate palmoplantar keratoderma | c2931122 | 80 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=50942 | 2021-01-23T18:34:23 | {"mesh": ["C536162"], "omim": ["148700", "607654", "612908"], "icd-10": ["Q82.8"], "synonyms": ["Keratosis palmoplantaris striata", "Keratosis palmoplantaris striata et areata", "Keratosis palmoplantaris varians of Wachters"]} |
Blount disease is a growth disorder of the shin bone (tibia) characterized by inward turning of the lower leg (bowing) that slowly worsens over time. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. There are two types of Blount disease (early-onset and late-onse... | Blount disease | c0175756 | 81 | gard | https://rarediseases.info.nih.gov/diseases/916/blount-disease | 2021-01-18T18:01:46 | {"mesh": ["C536237"], "omim": ["188700"], "orphanet": ["2768"], "synonyms": ["Tibia vara", "Osteochondrosis deformans tibiae", "Blount's disease", "Blount-Barber syndrome", "Erlacher-Blount syndrome", "Osteochondrosis deformans tibiae, familial infantile type"]} |
## Clinical Features
Gottron (1940) reported a brother and sister, aged 16 and 19 years, whose hands and feet had appeared old since infancy because of thin skin. General physical and mental development were normal. Less severe skin atrophy was present elsewhere. Huttova et al. (1967) also described affected sibs. ... | ACROGERIA, GOTTRON TYPE | c0238590 | 82 | omim | https://www.omim.org/entry/201200 | 2019-09-22T16:31:30 | {"omim": ["201200"], "orphanet": ["2500"], "synonyms": ["Alternative titles", "METAGERIA", "ACROMETAGERIA"]} |
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
*[v]: View... | Distal 7q11.23 microduplication syndrome | None | 83 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261102 | 2021-01-23T18:19:46 | {"icd-10": ["Q92.3"], "synonyms": ["Distal dup(7)(q11.23)", "Distal trisomy 7q11.23", "Dup7q11.23D"]} |
A number sign (#) is used with this entry because of evidence that familial British dementia (FBD) is caused by heterozygous mutation in the ITM2B gene (603904) on chromosome 13q14.
Familial Danish dementia (FDD; 117300) is also caused by mutation in the ITM2B gene.
Clinical Features
Worster-Drought et al. (1933) ... | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 | c1867773 | 84 | omim | https://www.omim.org/entry/176500 | 2019-09-22T16:36:00 | {"doid": ["0070029"], "omim": ["176500"], "orphanet": ["439254", "97345"], "synonyms": ["ITM2B-related amyloidosis", "ITM2B-related cerebral amyloid angiopathy", "CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE", "PRESENILE DEMENTIA WITH SPASTIC ATAXIA", "Alternative titles", "Familial cerebral amyloid angiopathy", "DEMENTIA... |
A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-2 (LCA2) is caused by homozygous or compound heterozygous mutation in the RPE65 gene (180069) on chromosome 1p31.
Mutations in this gene also cause retinitis pigmentosa (RP20; 613794).
Description
Leber congenital amauros... | LEBER CONGENITAL AMAUROSIS 2 | c0339527 | 85 | omim | https://www.omim.org/entry/204100 | 2019-09-22T16:31:10 | {"doid": ["0110016"], "mesh": ["D057130"], "omim": ["204100"], "orphanet": ["65"], "synonyms": ["Alternative titles", "AMAUROSIS CONGENITA OF LEBER II"], "genereviews": ["NBK531510"]} |
A rare intestinal condition characterized by an abnormal communication between the lower rectum and the perianal skin, which usually develops after an acute perianal abscess. A fistulous traject may be established on either side of the anus (never in the midline) and mucous or fecal discharge can appear. The skin aro... | Anal fistula | c0205929 | 86 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228113 | 2021-01-23T17:39:05 | {"mesh": ["D012003"], "umls": ["C0205929"], "icd-10": ["K60.3"]} |
A number sign (#) is used with this entry because infantile epileptic encephalopathy-13 (EIEE13) is caused by heterozygous mutation in the SCN8A gene (600702) on chromosome 12q13.
For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Clinical Features
Veeramah ... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | c3281191 | 87 | omim | https://www.omim.org/entry/614558 | 2019-09-22T15:54:53 | {"doid": ["0080445"], "omim": ["614558"], "orphanet": ["442835"], "synonyms": ["Undetermined EOEE"], "genereviews": ["NBK379665"]} |
Congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect
Hypoplastic right heart syndrome
SpecialtyCardiology
Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right ventr... | Hypoplastic right heart syndrome | c0344963 | 88 | wikipedia | https://en.wikipedia.org/wiki/Hypoplastic_right_heart_syndrome | 2021-01-18T19:06:53 | {"gard": ["2922"], "umls": ["C0265856", "C0344963"], "orphanet": ["98723"], "wikidata": ["Q17091221"]} |
A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.
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*[c.]: circa
| Astley-Kendall dysplasia | c1300228 | 89 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85175 | 2021-01-23T17:13:55 | {"mesh": ["C535392"], "umls": ["C1300228"], "icd-10": ["Q77.3"]} |
Not to be confused with Dental cyst.
Relative incidence of odontogenic cysts.[1] Paradental cyst is labeled at right.
Paradental cysts constitute a family of inflammatory odontogenic cyst, that typically appear in relation to crown or root of partially erupted molar tooth. When the cyst is developed in the distal r... | Paradental cyst | c0031087 | 90 | wikipedia | https://en.wikipedia.org/wiki/Paradental_cyst | 2021-01-18T19:04:21 | {"mesh": ["D010509"], "wikidata": ["Q11546777"]} |
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, hypertelo... | Distal 17p13.3 microdeletion syndrome | c4707092 | 91 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261257 | 2021-01-23T18:19:54 | {"icd-10": ["Q93.5"], "synonyms": ["Distal del(17)(p13.3 )", "Distal monosomy 17p13.3"]} |
Stark (1940) observed congenital weakness of cranial nerves III, IV and VII in 2 sisters and a brother from a consanguineous mating. Thomas (1898) described congenital facial paralysis in 2 brothers who also had malformed external ears. Cadwalader (1922) reported affected sibs from a first-cousin marriage.
Inheri... | CRANIAL NERVES, CONGENITAL PARESIS OF | c1857531 | 92 | omim | https://www.omim.org/entry/218100 | 2019-09-22T16:29:16 | {"mesh": ["C565673"], "omim": ["218100"]} |
In 2 male offspring of Kuwaiti first-cousins, Reardon et al. (1990) described congenital heart malformation and skeletal dysplasia, including coronal clefting of the vertebral bodies and short limbs. They found no report of an entirely similar case.
Cardiac \- Congenital heart defect Skel \- Dysplasia \- Vertebra... | CARDIOSKELETAL SYNDROME, KUWAITI TYPE | c1859327 | 93 | omim | https://www.omim.org/entry/212135 | 2019-09-22T16:30:05 | {"mesh": ["C535850"], "omim": ["212135"], "orphanet": ["1354"]} |
Psychological defense mechanism articulated by Alfred Adler
Superiority complex is a term coined by Alfred Adler in the early 1900s, as part of his school of individual psychology.
A superiority complex is a defense mechanism that develops over time to help a person cope with painful feelings of inferiority.[1][2] ... | Superiority complex | None | 94 | wikipedia | https://en.wikipedia.org/wiki/Superiority_complex | 2021-01-18T18:42:44 | {"wikidata": ["Q3269302"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to idiopathic generalized epilepsy-15 (EIG15) is caused by heterozygous mutation in the RORB gene (601972) on chromosome 9q22.
Description
Susceptibility to idiopathic generalized epilepsy-15 (EIG15) is an autosomal dominant seizu... | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 | None | 95 | omim | https://www.omim.org/entry/618357 | 2019-09-22T15:42:22 | {"omim": ["618357"]} |
This article is about proximal femoral fractures. For fractures of the hip bone, see Pelvic fracture.
Hip fracture
Other namesProximal femur fracture[1]
Intertrochanteric hip fracture in a 17-year-old male
SymptomsPain around the hip particularly with movement, shortening of the leg[2]
TypesIntracapsular, ex... | Hip fracture | c0019557 | 96 | wikipedia | https://en.wikipedia.org/wiki/Hip_fracture | 2021-01-18T18:36:08 | {"mesh": ["D006620"], "icd-9": ["820"], "icd-10": ["S72.0"], "wikidata": ["Q240856"]} |
Paroxysmal supraventricular tachycardia
Other namesSupraventricular tachycardia, paroxysmal atrial tachycardia (PAT)[1]
Lead II electrocardiogram strip showing PSVT with a heart rate of about 180.
SpecialtyEmergency medicine, cardiology
SymptomsPalpitations, feeling lightheaded, sweating, shortness of bre... | Paroxysmal supraventricular tachycardia | c0030590 | 97 | wikipedia | https://en.wikipedia.org/wiki/Paroxysmal_supraventricular_tachycardia | 2021-01-18T18:49:08 | {"umls": ["C0030590"], "icd-9": ["427.0"], "wikidata": ["Q28032350"]} |
A number sign (#) is used with this entry because pyruvate carboxylase deficiency is caused by homozygous or compound heterozygous mutation in the pyruvate carboxylase gene (PC; 608786) on chromosome 11q13.
Clinical Features
PC deficiency may be categorized into 3 phenotypic subgroups. Patients from North Ameri... | PYRUVATE CARBOXYLASE DEFICIENCY | c0034341 | 98 | omim | https://www.omim.org/entry/266150 | 2019-09-22T16:22:59 | {"doid": ["3651"], "mesh": ["D015324"], "omim": ["266150"], "icd-10": ["E74.4"], "orphanet": ["353314", "3008", "353320", "353308"], "synonyms": ["Pyruvate carboxylase deficiency type B", "Alternative titles", "LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY", "LEIGH SYNDROME DUE TO PYRUVATE CAR... |
Cross syndrome
Other namesOculocerebral hypopigmentation syndrome, Cross type[1]
Cross syndrome is inherited in an autosomal recessive manner
SpecialtyEndocrinology
Cross–McKusick–Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation synd... | Cross syndrome | c2936910 | 99 | wikipedia | https://en.wikipedia.org/wiki/Cross_syndrome | 2021-01-18T18:55:59 | {"gard": ["105"], "umls": ["C2936910", "C0268496"], "icd-10": ["E70.3"], "orphanet": ["2719"], "wikidata": ["Q5188485"]} |
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