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nord_0_0	Overview of 47, XXY (Klinefelter Syndrome)	SummaryKlinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Common physical features may include tall stature, red...	Overview of 47, XXY (Klinefelter Syndrome). SummaryKlinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Common phy...	0	47, XXY (Klinefelter Syndrome)
nord_0_1	Symptoms of 47, XXY (Klinefelter Syndrome)	At birth, most neonates with 47, XXY (KS) have no significant dysmorphic or unusual features. Most individuals with 47, XXY (KS) are identified though prenatal diagnosis or when the child does not progress through puberty completely or adequately. Infants and young children with 47, XXY (KS) are sometimes initially ide...	Symptoms of 47, XXY (Klinefelter Syndrome). At birth, most neonates with 47, XXY (KS) have no significant dysmorphic or unusual features. Most individuals with 47, XXY (KS) are identified though prenatal diagnosis or when the child does not progress through puberty completely or adequately. Infants and young children w...	0	47, XXY (Klinefelter Syndrome)
nord_0_2	Causes of 47, XXY (Klinefelter Syndrome)	47, XXY (KS) is not inherited. Males with 47, XXY (KS) have one extra X chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm. Some males with 47, XXY (KS) are mosaic, meaning that some cells have an extra X chromosome and other cells do not. Mo...	Causes of 47, XXY (Klinefelter Syndrome). 47, XXY (KS) is not inherited. Males with 47, XXY (KS) have one extra X chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm. Some males with 47, XXY (KS) are mosaic, meaning that some cells have an ext...	0	47, XXY (Klinefelter Syndrome)
nord_0_3	Affects of 47, XXY (Klinefelter Syndrome)	47, XXY (KS) is the most common human sex chromosome disorder and occurs in approximately 1 in 500-1,000 males. It is estimated that 3,000 affected boys are born each year in the United States.	Affects of 47, XXY (Klinefelter Syndrome). 47, XXY (KS) is the most common human sex chromosome disorder and occurs in approximately 1 in 500-1,000 males. It is estimated that 3,000 affected boys are born each year in the United States.	0	47, XXY (Klinefelter Syndrome)
nord_0_4	Related disorders of 47, XXY (Klinefelter Syndrome)	Kallmann syndrome is a rare inherited disorder that mostly, but not exclusively, affects men. The major characteristics of Kallmann syndrome, in both men and women, are the failure to experience puberty and the complete or partial loss of the sense of smell. Failure to go through puberty reflects a hormonal imbalance t...	Related disorders of 47, XXY (Klinefelter Syndrome). Kallmann syndrome is a rare inherited disorder that mostly, but not exclusively, affects men. The major characteristics of Kallmann syndrome, in both men and women, are the failure to experience puberty and the complete or partial loss of the sense of smell. Failure ...	0	47, XXY (Klinefelter Syndrome)
nord_0_5	Diagnosis of 47, XXY (Klinefelter Syndrome)	Males with 47, XXY (KS) are most commonly identified before birth (e.g. through prenatal screenings for chromosomal disorders), at puberty or later in life because of low fertility. 47, XXY (KS) is diagnosed by a chromosome karyotype analysis on a blood sample or by a chromosomal microarray (CMA) test. CMA consists of ...	Diagnosis of 47, XXY (Klinefelter Syndrome). Males with 47, XXY (KS) are most commonly identified before birth (e.g. through prenatal screenings for chromosomal disorders), at puberty or later in life because of low fertility. 47, XXY (KS) is diagnosed by a chromosome karyotype analysis on a blood sample or by a chromo...	0	47, XXY (Klinefelter Syndrome)
nord_0_6	Therapies of 47, XXY (Klinefelter Syndrome)	Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel. Early hormonal treatment (EHT), three month...	Therapies of 47, XXY (Klinefelter Syndrome). Treatment One of the hallmarks of Klinefelter syndrome is hypergonadotropic hypogonadism, a condition that results in testosterone deficiency. Treatment involves the targeted administration of male hormones (androgens), such as testosterone enanthate, cypionate, or androgel...	0	47, XXY (Klinefelter Syndrome)
nord_1_0	Overview of 48, XXYY Syndrome	48, XXYY is a genetic disorder that occurs in males and is characterized by additional sex chromosomes compared to the typical male karyotype of 46, XY. 48, XXYY syndrome has previously been described as a variant of Klinefelter syndrome because affected males have similar physical characteristics (tall stature and sma...	Overview of 48, XXYY Syndrome. 48, XXYY is a genetic disorder that occurs in males and is characterized by additional sex chromosomes compared to the typical male karyotype of 46, XY. 48, XXYY syndrome has previously been described as a variant of Klinefelter syndrome because affected males have similar physical charac...	1	48, XXYY Syndrome
nord_1_1	Symptoms of 48, XXYY Syndrome	In infancy and early childhood, delayed milestones in speech and motor skills are common, as are medical features including low muscle tone (hypotonia), feeding disorders, delayed appearance of teeth, crossed eyes (strabismus) and a twisted neck (torticollis) with flattening on one side of the head. Other physical feat...	Symptoms of 48, XXYY Syndrome. In infancy and early childhood, delayed milestones in speech and motor skills are common, as are medical features including low muscle tone (hypotonia), feeding disorders, delayed appearance of teeth, crossed eyes (strabismus) and a twisted neck (torticollis) with flattening on one side o...	1	48, XXYY Syndrome
nord_1_2	Causes of 48, XXYY Syndrome	48, XXYY syndrome is not inherited, Males with 48, XXYY have an extra X and Y chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm cells. There are no commonly known factors predisposing to the specific occurrence of these nondisjunction events...	Causes of 48, XXYY Syndrome. 48, XXYY syndrome is not inherited, Males with 48, XXYY have an extra X and Y chromosome because of a nondisjunction error that randomly occurs during the division of the sex chromosomes in the egg or sperm cells. There are no commonly known factors predisposing to the specific occurrence o...	1	48, XXYY Syndrome
nord_1_3	Affects of 48, XXYY Syndrome	There is an estimated incidence of 48, XXYY in 1/18,000 to 1/50,000 male births.	Affects of 48, XXYY Syndrome. There is an estimated incidence of 48, XXYY in 1/18,000 to 1/50,000 male births.	1	48, XXYY Syndrome
nord_1_4	Related disorders of 48, XXYY Syndrome	The hypergonadotropic hypogonadism present in 48, XXYY can be seen in other male sex chromosome aneuploidies including Klinefelter (47, XXY) syndrome, 48, XXXY syndrome and 49, XXXXY syndrome as well as 45, X/46, XY mosaicism and 46, XX sex reversal. Other genetic conditions that may have overlap with some of the behav...	Related disorders of 48, XXYY Syndrome. The hypergonadotropic hypogonadism present in 48, XXYY can be seen in other male sex chromosome aneuploidies including Klinefelter (47, XXY) syndrome, 48, XXXY syndrome and 49, XXXXY syndrome as well as 45, X/46, XY mosaicism and 46, XX sex reversal. Other genetic conditions that...	1	48, XXYY Syndrome
nord_1_5	Diagnosis of 48, XXYY Syndrome	48, XXYY is usually identified by a standard karyotype or chromosomal microarray (CMA) performed on peripheral blood, amniotic fluid or buccal swab. Fluorescence In Situ Hybridization (FISH) is another approach to investigate the presence of extra copies of chromosomes X and Y on a larger sample of cells. Prenatal diag...	Diagnosis of 48, XXYY Syndrome. 48, XXYY is usually identified by a standard karyotype or chromosomal microarray (CMA) performed on peripheral blood, amniotic fluid or buccal swab. Fluorescence In Situ Hybridization (FISH) is another approach to investigate the presence of extra copies of chromosomes X and Y on a large...	1	48, XXYY Syndrome
nord_1_6	Therapies of 48, XXYY Syndrome	Treatment Comprehensive interdisciplinary care is important to evaluate and manage developmental, medical, and psychological conditions that may be associated with 48, XXYY syndrome. At diagnosis, a thorough physical exam, renal ultrasound and echocardiography should be performed to evaluate for congenital d...	Therapies of 48, XXYY Syndrome.  Treatment Comprehensive interdisciplinary care is important to evaluate and manage developmental, medical, and psychological conditions that may be associated with 48, XXYY syndrome. At diagnosis, a thorough physical exam, renal ultrasound and echocardiography should be perfor...	1	48, XXYY Syndrome
nord_2_0	Overview of Aarskog Syndrome	Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated with Aarskog syndrome.	Overview of Aarskog Syndrome. Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated...	2	Aarskog Syndrome
nord_2_1	Symptoms of Aarskog Syndrome	Aarskog syndrome primarily affects males. Affected boys exhibit a characteristic set of facial, skeletal, and genital abnormalities. Clinical signs may vary from person to person (clinical heterogeneity), even within families. Males with Aarskog syndrome often have a rounded face with a broad forehead. Additional chara...	Symptoms of Aarskog Syndrome. Aarskog syndrome primarily affects males. Affected boys exhibit a characteristic set of facial, skeletal, and genital abnormalities. Clinical signs may vary from person to person (clinical heterogeneity), even within families. Males with Aarskog syndrome often have a rounded face with a br...	2	Aarskog Syndrome
nord_2_2	Causes of Aarskog Syndrome	Although Aarskog syndrome is a clinically and genetically heterogeneous condition, the best characterized form of the disorder is inherited as an X-linked trait and caused by changes (mutations) in the FGD1 gene. Aarskog syndrome primarily affects males. However, females who carry a single copy of a FGD1 gene mutation ...	Causes of Aarskog Syndrome. Although Aarskog syndrome is a clinically and genetically heterogeneous condition, the best characterized form of the disorder is inherited as an X-linked trait and caused by changes (mutations) in the FGD1 gene. Aarskog syndrome primarily affects males. However, females who carry a single c...	2	Aarskog Syndrome
nord_2_3	Affects of Aarskog Syndrome	Approximately 60 reports of Aarskog syndrome confirmed by identification of a FGD1 gene mutation have been published worldwide. However, it is possible that some mildly affected children may be unrecognized, making it difficult to determine the true frequency of this condition in the general population. An estimated po...	Affects of Aarskog Syndrome. Approximately 60 reports of Aarskog syndrome confirmed by identification of a FGD1 gene mutation have been published worldwide. However, it is possible that some mildly affected children may be unrecognized, making it difficult to determine the true frequency of this condition in the genera...	2	Aarskog Syndrome
nord_2_4	Related disorders of Aarskog Syndrome	Symptoms of the following disorders can be similar to those of Aarskog syndrome. Comparisons may be useful for a differential diagnosis:Noonan syndrome is a relatively common genetic disorder characterized by short stature, dysmorphic facial features and congenital heart disease. The disorder is characterized by a wide...	Related disorders of Aarskog Syndrome. Symptoms of the following disorders can be similar to those of Aarskog syndrome. Comparisons may be useful for a differential diagnosis:Noonan syndrome is a relatively common genetic disorder characterized by short stature, dysmorphic facial features and congenital heart disease. ...	2	Aarskog Syndrome
nord_2_5	Diagnosis of Aarskog Syndrome	A diagnosis of Aarskog syndrome may be considered based upon a thorough clinical evaluation, a detailed patient and family history, and the identification of characteristic findings. Molecular genetic testing for FGD1 gene mutations is available to confirm the diagnosis. If a FGD1 gene mutation is not identified, molec...	Diagnosis of Aarskog Syndrome. A diagnosis of Aarskog syndrome may be considered based upon a thorough clinical evaluation, a detailed patient and family history, and the identification of characteristic findings. Molecular genetic testing for FGD1 gene mutations is available to confirm the diagnosis. If a FGD1 gene mu...	2	Aarskog Syndrome
nord_2_6	Therapies of Aarskog Syndrome	Treatment The treatment of Aarskog syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, dental specialists, speech pathologists, specialists who asses and treat hearing prob...	Therapies of Aarskog Syndrome. Treatment The treatment of Aarskog syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, dental specialists, speech pathologists, specialists w...	2	Aarskog Syndrome
nord_3_0	Overview of Abetalipoproteinemia	SummaryAbetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Inability to absorb fat results in deficiencies of lipids and various essential vitamins. Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty ...	Overview of Abetalipoproteinemia. SummaryAbetalipoproteinemia is a rare inherited disorder affecting fat absorption by the intestine and mobilization by the liver. Inability to absorb fat results in deficiencies of lipids and various essential vitamins. Affected individuals experience progressive neurological deteriora...	3	Abetalipoproteinemia
nord_3_1	Symptoms of Abetalipoproteinemia	Individuals with abetalipoproteinemia may experience a wide variety of symptoms affecting various parts of the body including the gastrointestinal tract, neurological system, eyes and blood.Affected infants often present with symptoms relating to gastrointestinal disease, which occur secondary to poor fat absorption. S...	Symptoms of Abetalipoproteinemia. Individuals with abetalipoproteinemia may experience a wide variety of symptoms affecting various parts of the body including the gastrointestinal tract, neurological system, eyes and blood.Affected infants often present with symptoms relating to gastrointestinal disease, which occur s...	3	Abetalipoproteinemia
nord_3_2	Causes of Abetalipoproteinemia	Abetalipoproteinemia is caused by changes (mutations or variants) in the MTTP gene and is inherited as an autosomal recessive genetic condition. Genetic diseases are determined by two alleles, one received from the father and one from the mother. An allele refers to one of two or more alternate forms of a particular ge...	Causes of Abetalipoproteinemia. Abetalipoproteinemia is caused by changes (mutations or variants) in the MTTP gene and is inherited as an autosomal recessive genetic condition. Genetic diseases are determined by two alleles, one received from the father and one from the mother. An allele refers to one of two or more al...	3	Abetalipoproteinemia
nord_3_3	Affects of Abetalipoproteinemia	The exact prevalence and incidence of abetalipoproteinemia is unknown, but it is estimated to affect less than 1 in 1,000,000 people in the general population. Abetalipoproteinemia affects both males and females. There are no known racial or ethnic preferences for the disorder. Abetalipoproteinemia is more prevalent in...	Affects of Abetalipoproteinemia. The exact prevalence and incidence of abetalipoproteinemia is unknown, but it is estimated to affect less than 1 in 1,000,000 people in the general population. Abetalipoproteinemia affects both males and females. There are no known racial or ethnic preferences for the disorder. Abetalip...	3	Abetalipoproteinemia
nord_3_4	Related disorders of Abetalipoproteinemia	Symptoms of the following disorders can be similar to those of abetalipoproteinemia. Comparisons may be useful for a differential diagnosis.Familial hypobetalipoproteinemia due to secretion defect 2 (FHBL-SD2) is a rare genetic disorder that is highly variable in its expression and is due to variants in the APOB gene. ...	Related disorders of Abetalipoproteinemia. Symptoms of the following disorders can be similar to those of abetalipoproteinemia. Comparisons may be useful for a differential diagnosis.Familial hypobetalipoproteinemia due to secretion defect 2 (FHBL-SD2) is a rare genetic disorder that is highly variable in its expressio...	3	Abetalipoproteinemia
nord_3_5	Diagnosis of Abetalipoproteinemia	A diagnosis of abetalipoproteinemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including tests to measure lipids (triglyceride and cholesterol) and apoB-containing lipoproteins in the plasma, determine the form a...	Diagnosis of Abetalipoproteinemia. A diagnosis of abetalipoproteinemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests including tests to measure lipids (triglyceride and cholesterol) and apoB-containing lipoproteins ...	3	Abetalipoproteinemia
nord_3_6	Therapies of Abetalipoproteinemia	Treatment The treatment of abetalipoproteinemia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Neurologists, liver specialists (hepatologists), eye specialists (ophthalmologists), specialists in the study of fats (li...	Therapies of Abetalipoproteinemia. Treatment The treatment of abetalipoproteinemia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Neurologists, liver specialists (hepatologists), eye specialists (ophthalmologists), s...	3	Abetalipoproteinemia
nord_4_0	Overview of Ablepharon-Macrostomia Syndrome	SummaryAblepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). Characteristics mainly involve the face and skin and rarely involve the internal organs (viscera). Common signs and symptoms in additio...	Overview of Ablepharon-Macrostomia Syndrome. SummaryAblepharon-macrostomia syndrome (AMS) is a rare genetic disorder characterized by absent or underdeveloped eyelids (ablepharon or microblepharon) and a wide mouth (macrostomia). Characteristics mainly involve the face and skin and rarely involve the internal organs (v...	4	Ablepharon-Macrostomia Syndrome
nord_4_1	Symptoms of Ablepharon-Macrostomia Syndrome	AMS is apparent at birth from features of the head and facial (craniofacial) region. The absence of, or underdevelopment of eyelids and a wide mouth are cardinal features. The abnormalities around the eyes, poor eyelid development and absent eyebrows and eyelashes cause the upper and lower lids to turn outwards (ectrop...	Symptoms of Ablepharon-Macrostomia Syndrome. AMS is apparent at birth from features of the head and facial (craniofacial) region. The absence of, or underdevelopment of eyelids and a wide mouth are cardinal features. The abnormalities around the eyes, poor eyelid development and absent eyebrows and eyelashes cause the ...	4	Ablepharon-Macrostomia Syndrome
nord_4_2	Causes of Ablepharon-Macrostomia Syndrome	AMS is caused by changes (mutations) in the gene called TWIST2. The mutation has often occurred spontaneously in the affected individual (so not inherited from one of the parents) but inheritance from one of the parents in an autosomal dominant pattern has been reported. Dominant genetic disorders occur when only a sin...	Causes of Ablepharon-Macrostomia Syndrome. AMS is caused by changes (mutations) in the gene called TWIST2. The mutation has often occurred spontaneously in the affected individual (so not inherited from one of the parents) but inheritance from one of the parents in an autosomal dominant pattern has been reported. Domin...	4	Ablepharon-Macrostomia Syndrome
nord_4_3	Affects of Ablepharon-Macrostomia Syndrome	Between 1977 and 2020, there have been 16 documented cases of AMS in the literature and a worldwide prevalence of less than <1/1,000,000. No apparent sex or ethnic disparity exists, and males and females present with similar signs and symptoms.	Affects of Ablepharon-Macrostomia Syndrome. Between 1977 and 2020, there have been 16 documented cases of AMS in the literature and a worldwide prevalence of less than <1/1,000,000. No apparent sex or ethnic disparity exists, and males and females present with similar signs and symptoms.	4	Ablepharon-Macrostomia Syndrome
nord_4_4	Related disorders of Ablepharon-Macrostomia Syndrome	Barber-Say syndrome (BSS) and Setleis syndrome (also known as focal facial dermal dysplasia 3) fall within the spectrum of disorders resulting from TWIST2 mutations. Key features that differentiate BSS from AMS are presence of excessive hair (hypertrichosis), less marked eye findings, narrow ear canals and relatively n...	Related disorders of Ablepharon-Macrostomia Syndrome. Barber-Say syndrome (BSS) and Setleis syndrome (also known as focal facial dermal dysplasia 3) fall within the spectrum of disorders resulting from TWIST2 mutations. Key features that differentiate BSS from AMS are presence of excessive hair (hypertrichosis), less m...	4	Ablepharon-Macrostomia Syndrome
nord_4_5	Diagnosis of Ablepharon-Macrostomia Syndrome	A diagnosis of AMS may be suspected at birth based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic physical findings; typically, a reliable diagnosis is possible on clinical grounds only. Differentiation from BSS and Setleis syndrome may sometimes be diffi...	Diagnosis of Ablepharon-Macrostomia Syndrome. A diagnosis of AMS may be suspected at birth based upon a thorough clinical evaluation, a detailed patient and family history and identification of characteristic physical findings; typically, a reliable diagnosis is possible on clinical grounds only. Differentiation from B...	4	Ablepharon-Macrostomia Syndrome
nord_4_6	Therapies of Ablepharon-Macrostomia Syndrome	Treatment The currently accepted treatment is corrective and reconstructive surgery aimed at preserving vision and reducing visual complications such as corneal clouding (opacification) during the neonatal period. Providing supportive therapy such as lubricant eye drops early on may improve symptoms of eye dryness. Add...	Therapies of Ablepharon-Macrostomia Syndrome. Treatment The currently accepted treatment is corrective and reconstructive surgery aimed at preserving vision and reducing visual complications such as corneal clouding (opacification) during the neonatal period. Providing supportive therapy such as lubricant eye drops ear...	4	Ablepharon-Macrostomia Syndrome
nord_5_0	Overview of Acanthocheilonemiasis	Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a group of parasitic diseases known as filarial diseases (nematode). This parasite is found, for the most part, in Africa. Symptoms of infection may include red, itchy skin (pruritis), ...	Overview of Acanthocheilonemiasis. Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans, which belongs to a group of parasitic diseases known as filarial diseases (nematode). This parasite is found, for the most part, in Africa. Symptoms of infection may i...	5	Acanthocheilonemiasis
nord_5_1	Symptoms of Acanthocheilonemiasis	Initially people with Acanthocheilonemiasis may have no symptoms. Symptoms occur more frequently in people who visit the areas where this parasite is common (endemic), than in people who are native to that area. One common laboratory finding, in people who have recently returned from infected areas, is abnormally hig...	Symptoms of Acanthocheilonemiasis. Initially people with Acanthocheilonemiasis may have no symptoms. Symptoms occur more frequently in people who visit the areas where this parasite is common (endemic), than in people who are native to that area. One common laboratory finding, in people who have recently returned fro...	5	Acanthocheilonemiasis
nord_5_2	Causes of Acanthocheilonemiasis	Acanthocheilonemiasis is a rare infectious disease caused by long “thread-like” worms, Acanthocheilonema perstans, also known as Dipetalonema perstans. The disease is transmitted by a small black insect (midge), called A. Culicoides.	Causes of Acanthocheilonemiasis. Acanthocheilonemiasis is a rare infectious disease caused by long “thread-like” worms, Acanthocheilonema perstans, also known as Dipetalonema perstans. The disease is transmitted by a small black insect (midge), called A. Culicoides.	5	Acanthocheilonemiasis
nord_5_3	Affects of Acanthocheilonemiasis	Acanthocheilonema perstans, the parasite that causes Acanthocheilonemiasis is common in central Africa and in some areas of South America. This disorder affects males and females in equal numbers.	Affects of Acanthocheilonemiasis. Acanthocheilonema perstans, the parasite that causes Acanthocheilonemiasis is common in central Africa and in some areas of South America. This disorder affects males and females in equal numbers.	5	Acanthocheilonemiasis
nord_5_4	Related disorders of Acanthocheilonemiasis	Symptoms of the following disorders can be similar to those of Acanthocheilonemiasis. Comparisons may be useful for a differential diagnosis:Filariasis is a group of rare infectious diseases caused by parasitic worms. These disorders are characterized by abnormal changes with the lymph glands (lymphadenopathy) and ch...	Related disorders of Acanthocheilonemiasis. Symptoms of the following disorders can be similar to those of Acanthocheilonemiasis. Comparisons may be useful for a differential diagnosis:Filariasis is a group of rare infectious diseases caused by parasitic worms. These disorders are characterized by abnormal changes wi...	5	Acanthocheilonemiasis
nord_5_5	Diagnosis of Acanthocheilonemiasis		Diagnosis of Acanthocheilonemiasis.	5	Acanthocheilonemiasis
nord_5_6	Therapies of Acanthocheilonemiasis	Acanthocheilonemiasis is treated by means of the administration of antifilarial drugs, some of which are newer than others. Ivermectin or diethyl-carbamazine (DEC) are frequently prescribed. Occasionally, surgery may be required to remove large adult worms. Mild cases of acanthocheilonemiasis do not require treatment.	Therapies of Acanthocheilonemiasis. Acanthocheilonemiasis is treated by means of the administration of antifilarial drugs, some of which are newer than others. Ivermectin or diethyl-carbamazine (DEC) are frequently prescribed. Occasionally, surgery may be required to remove large adult worms. Mild cases of acanthocheil...	5	Acanthocheilonemiasis
nord_6_0	Overview of Aceruloplasminemia	Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually be...	Overview of Aceruloplasminemia. Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may...	6	Aceruloplasminemia
nord_6_1	Symptoms of Aceruloplasminemia	The symptoms and severity of aceruloplasminemia vary from one person to another even among members of the same family. The age of onset varies as well, ranging from anywhere between the 20s and 60s. The three main findings associated with aceruloplasminemia are retinal degeneration, neurological symptoms and diabetes m...	Symptoms of Aceruloplasminemia. The symptoms and severity of aceruloplasminemia vary from one person to another even among members of the same family. The age of onset varies as well, ranging from anywhere between the 20s and 60s. The three main findings associated with aceruloplasminemia are retinal degeneration, neur...	6	Aceruloplasminemia
nord_6_2	Causes of Aceruloplasminemia	Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene and is inherited in an autosomal recessive pattern. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.Recessive genetic disorders occur when an i...	Causes of Aceruloplasminemia. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene and is inherited in an autosomal recessive pattern. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.Recessive gen...	6	Aceruloplasminemia
nord_6_3	Affects of Aceruloplasminemia	Aceruloplasminemia is an extremely rare disorder that affects males and females in equal numbers. The exact incidence of aceruloplasminemia is unknown. It may be more prevalent in Japan, where it is estimated to affect 1 individual per 2,000,000 in the general population. Because many cases of aceruloplasminemia go und...	Affects of Aceruloplasminemia. Aceruloplasminemia is an extremely rare disorder that affects males and females in equal numbers. The exact incidence of aceruloplasminemia is unknown. It may be more prevalent in Japan, where it is estimated to affect 1 individual per 2,000,000 in the general population. Because many cas...	6	Aceruloplasminemia
nord_6_4	Related disorders of Aceruloplasminemia	Symptoms of the following disorders can be similar to those of aceruloplasminemia. Comparisons may be useful for a differential diagnosis.Neurodegeneration with brain iron accumulation (NBIA) is a general term for a rare group of genetic disorders characterized by the accumulation of iron in the brain. These disorders ...	Related disorders of Aceruloplasminemia. Symptoms of the following disorders can be similar to those of aceruloplasminemia. Comparisons may be useful for a differential diagnosis.Neurodegeneration with brain iron accumulation (NBIA) is a general term for a rare group of genetic disorders characterized by the accumulati...	6	Aceruloplasminemia
nord_6_5	Diagnosis of Aceruloplasminemia	A diagnosis of aceruloplasminemia is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood tests can reveal certain findings associated with aceruloplasminemia including absent blood ceruloplasmin and low concentra...	Diagnosis of Aceruloplasminemia. A diagnosis of aceruloplasminemia is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Blood tests can reveal certain findings associated with aceruloplasminemia including absent bloo...	6	Aceruloplasminemia
nord_6_6	Therapies of Aceruloplasminemia	Treatment The treatment of aceruloplasminemia is directed toward the specific symptoms that are apparent in each individual. Individuals with aceruloplasminemia may be treated with a drug called desferrioxamine, an iron chelator. Iron chelators are drugs that bind to the excess iron in the body allowing it to be dissol...	Therapies of Aceruloplasminemia. Treatment The treatment of aceruloplasminemia is directed toward the specific symptoms that are apparent in each individual. Individuals with aceruloplasminemia may be treated with a drug called desferrioxamine, an iron chelator. Iron chelators are drugs that bind to the excess iron in ...	6	Aceruloplasminemia
nord_7_0	Overview of Achalasia	Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (LES), to relax. It is th...	Overview of Achalasia. Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (L...	7	Achalasia
nord_7_1	Symptoms of Achalasia	The symptoms of achalasia typically appear gradually. Most people with this disorder experience an impairment in the ability to swallow (dysphagia) as a major and early symptom. There may also be mild chest pain that comes and goes. Some affected individuals experience pain that is very intense.Retention of saliva and ...	Symptoms of Achalasia. The symptoms of achalasia typically appear gradually. Most people with this disorder experience an impairment in the ability to swallow (dysphagia) as a major and early symptom. There may also be mild chest pain that comes and goes. Some affected individuals experience pain that is very intense.R...	7	Achalasia
nord_7_2	Causes of Achalasia	The exact cause of achalasia is not known. Some clinical researchers suspect that the condition may be caused by the degeneration of a group of nerves located in the chest (Auerbach’s plexus). It is believed that there may be a rare, inherited form of achalasia, but this is not yet well understood at this time.	Causes of Achalasia. The exact cause of achalasia is not known. Some clinical researchers suspect that the condition may be caused by the degeneration of a group of nerves located in the chest (Auerbach’s plexus). It is believed that there may be a rare, inherited form of achalasia, but this is not yet well understood ...	7	Achalasia
nord_7_3	Affects of Achalasia	Achalasia is a rare disorder that typically affects adults between the ages of 25 and 60 years. However, this disorder may occur at any age, including during childhood. Achalasia affects males and females in equal numbers except in cases that appear to reflect an inherited form. In those cases, it appears that males ar...	Affects of Achalasia. Achalasia is a rare disorder that typically affects adults between the ages of 25 and 60 years. However, this disorder may occur at any age, including during childhood. Achalasia affects males and females in equal numbers except in cases that appear to reflect an inherited form. In those cases, it...	7	Achalasia
nord_7_4	Related disorders of Achalasia	Symptoms of the following disorders can be similar to those of achalasia. Comparisons may be useful for a differential diagnosis:Esophageal cancer The symptoms of esophageal cancer resemble those associated with achalasia. Esophageal cancer may begin at almost any point in the tube. Small cancers may be asymptomatic or...	Related disorders of Achalasia. Symptoms of the following disorders can be similar to those of achalasia. Comparisons may be useful for a differential diagnosis:Esophageal cancer The symptoms of esophageal cancer resemble those associated with achalasia. Esophageal cancer may begin at almost any point in the tube. Smal...	7	Achalasia
nord_7_5	Diagnosis of Achalasia	X-ray examination (radiology) is frequently useful in the diagnosis of achalasia. Radiological examination, especially with the use of barium, may show enlargement (dilation) of the esophagus and the retention of food and secretions within the esophagus. Devices that measure fluid pressure (manometers) within the esoph...	Diagnosis of Achalasia. X-ray examination (radiology) is frequently useful in the diagnosis of achalasia. Radiological examination, especially with the use of barium, may show enlargement (dilation) of the esophagus and the retention of food and secretions within the esophagus. Devices that measure fluid pressure (mano...	7	Achalasia
nord_7_6	Therapies of Achalasia	TreatmentThe treatment of achalasia is aimed at removing obstructions caused by the failure of the lower esophageal sphincter muscle to relax. This may be done with the administration of drugs, expanding the cross-section (manual dilation) of the sphincter muscle, or through surgery.The drug isosorbide, (a long-acting ...	Therapies of Achalasia. TreatmentThe treatment of achalasia is aimed at removing obstructions caused by the failure of the lower esophageal sphincter muscle to relax. This may be done with the administration of drugs, expanding the cross-section (manual dilation) of the sphincter muscle, or through surgery.The drug iso...	7	Achalasia
nord_8_0	Overview of Achard Thiers Syndrome	Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown.	Overview of Achard Thiers Syndrome. Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown.	8	Achard Thiers Syndrome
nord_8_1	Symptoms of Achard Thiers Syndrome	The original description and usual emphasis in this syndrome is on the affected individual as a bearded woman with diabetes mellitus. In older women, the first clinical symptoms are often those associated with classic diabetes and may include abnormally high blood glucose due to the body's inability to utilize insulin...	Symptoms of Achard Thiers Syndrome. The original description and usual emphasis in this syndrome is on the affected individual as a bearded woman with diabetes mellitus. In older women, the first clinical symptoms are often those associated with classic diabetes and may include abnormally high blood glucose due to the...	8	Achard Thiers Syndrome
nord_8_2	Causes of Achard Thiers Syndrome	These syndromes appear to be transmitted within families. Approximately 50% of the sisters of women with PCOS have some form of the syndrome. The exact mechanism of genetic transmission is unknown.	Causes of Achard Thiers Syndrome. These syndromes appear to be transmitted within families. Approximately 50% of the sisters of women with PCOS have some form of the syndrome. The exact mechanism of genetic transmission is unknown.	8	Achard Thiers Syndrome
nord_8_3	Affects of Achard Thiers Syndrome	Achard-Thiers Syndrome is a rare disorder that affects females after menopause. The incidence of this disorder in the general population is not known.	Affects of Achard Thiers Syndrome. Achard-Thiers Syndrome is a rare disorder that affects females after menopause. The incidence of this disorder in the general population is not known.	8	Achard Thiers Syndrome
nord_8_4	Related disorders of Achard Thiers Syndrome	Symptoms of the following disorders can be similar to those of Achard-Thiers. Comparisons may be useful for a differential diagnosis:Acquired adrenogenital syndrome is a rare endocrine disorder that occurs because of a tumor in the adrenal glands which causes the overproduction of androgens. In an adult female the sym...	Related disorders of Achard Thiers Syndrome. Symptoms of the following disorders can be similar to those of Achard-Thiers. Comparisons may be useful for a differential diagnosis:Acquired adrenogenital syndrome is a rare endocrine disorder that occurs because of a tumor in the adrenal glands which causes the overproduct...	8	Achard Thiers Syndrome
nord_8_5	Diagnosis of Achard Thiers Syndrome	The diagnosis of Achard-Thiers syndrome should be suspected based on the clinical findings. Because affected women are hyperinsulinemic, a two-hour oral glucose tolerance test shows abnormally elevated levels of glucose in the blood.	Diagnosis of Achard Thiers Syndrome. The diagnosis of Achard-Thiers syndrome should be suspected based on the clinical findings. Because affected women are hyperinsulinemic, a two-hour oral glucose tolerance test shows abnormally elevated levels of glucose in the blood.	8	Achard Thiers Syndrome
nord_8_6	Therapies of Achard Thiers Syndrome	TreatmentDiabetes may be managed by diet and/or insulin or other medications, as required. Cosmetic measures (for example, waxing and electrolysis) can be used to facilitate hair removal. For younger women with PCOS, treatment with an oral contraceptive is the most common therapy, whereas for postmenopausal women with ...	Therapies of Achard Thiers Syndrome. TreatmentDiabetes may be managed by diet and/or insulin or other medications, as required. Cosmetic measures (for example, waxing and electrolysis) can be used to facilitate hair removal. For younger women with PCOS, treatment with an oral contraceptive is the most common therapy, w...	8	Achard Thiers Syndrome
nord_9_0	Overview of Achondrogenesis	SummaryAchondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities. The health problems associated with these conditions are life-threatening and most affected infants ar...	Overview of Achondrogenesis. SummaryAchondrogenesis is a group of rare skeletal dysplasias characterized by extreme shortening of the arms and legs in relation to the trunk, abnormal development of ribs, vertebra and other skeletal abnormalities. The health problems associated with these conditions are life-threatening...	9	Achondrogenesis
nord_9_1	Symptoms of Achondrogenesis	Achondrogenesis is characterized by premature birth, abnormal accumulation of fluid in the body (hydrops fetalis), and a head that may be abnormal in shape and less ossified. The head may look disproportionately large, because the body is small. In addition, affected individuals have extremely short limbs and ribs, sho...	Symptoms of Achondrogenesis. Achondrogenesis is characterized by premature birth, abnormal accumulation of fluid in the body (hydrops fetalis), and a head that may be abnormal in shape and less ossified. The head may look disproportionately large, because the body is small. In addition, affected individuals have extrem...	9	Achondrogenesis
nord_9_2	Causes of Achondrogenesis	Each type of achondrogenesis is caused by a mutation in a specific gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular p...	Causes of Achondrogenesis. Each type of achondrogenesis is caused by a mutation in a specific gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the fu...	9	Achondrogenesis
nord_9_3	Affects of Achondrogenesis	Achondrogenesis affect males and females in equal numbers. Achondrogenesis type IA and type IB are very rare disorders and prevalence for them is unknown. Achondrogenesis type II occurs in approximately 1/40,000-1/60,000 newborns.	Affects of Achondrogenesis. Achondrogenesis affect males and females in equal numbers. Achondrogenesis type IA and type IB are very rare disorders and prevalence for them is unknown. Achondrogenesis type II occurs in approximately 1/40,000-1/60,000 newborns.	9	Achondrogenesis

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Dataset Card for ReCOP

What's for?

The data for ReCOP is sourced from the National Organization for Rare Disorders (NORD) database, which compiles reports on rare diseases. NORD is committed to the identification, treatment, and cure of rare diseases through education, advocacy, research, and service programs. The primary objective of developing ReCOP using the NORD database is to provide comprehensive expertise on rare diseases for LLMs. This expertise can be leveraged to enhance the diagnostic capabilities of LLMs through retrieval-augmented generation.

Corpus Overview

ReCOP divides each rare disease report into chunks: overview, symptoms, causes, effects, related disorders, diagnosis, and standard therapies. Each property of the disease corresponds to a specific chunk in ReCOP. In this manner, ReCOP generates 9268 chunks based on the reports of 1324 rare diseases for the NORD database, with each report producing seven chunks corresponding to the properties of a rare disease.

Using ReCOP for Retrieval Augmentation Generations

Simply follow our benchmark repository ReDis-QA-Bench to run the retrieval augmentation generations on the ReDis-QA dataset:

git clone https://github.com/guanchuwang/redis-bench.git
cd redis-bench
bash rag-bench/scripts/run_exp.sh

Benchmark Results of Retrieval Augmentation Generations

Benchmark results of retrieval augmentation generations based on ReCOP, where the LLMs take Llama-2-7B-chat, Mistral-7B-instruct-v0.2, Phi-3-7B-instruct, Gemmma-1.1-7B-it, and Qwen-2-7B-Instruct.

Citation Information

If you find this corpus useful to your project, we appreciate you citing this work:

@article{wang2024assessing,
  title={Assessing and Enhancing Large Language Models in Rare Disease Question-answering},
  author={Wang, Guanchu and Ran, Junhao and Tang, Ruixiang and Chang, Chia-Yuan and Chuang, Yu-Neng and Liu, Zirui and Braverman, Vladimir and Liu, Zhandong and Hu, Xia},
  journal={arXiv preprint arXiv:2408.08422},
  year={2024}
}

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Paper for guan-wang/ReCOP

Assessing and Enhancing Large Language Models in Rare Disease Question-answering

Paper • 2408.08422 • Published Aug 15, 2024