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Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.
## Epidemiology
The overall prevalence and incidence of MEN are not known. The prevalence of MEN1 is e... | Multiple endocrine neoplasia | c0027662 | 7,500 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276161 | 2021-01-23T17:44:30 | {"mesh": ["D009377"], "umls": ["C0027662"], "icd-10": ["D44.8"], "synonyms": ["MEN"]} |
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.
## Epidemiology
MSUD has an estimated incidence of 1/150,000... | Thiamine-responsive maple syrup urine disease | c0751285 | 7,501 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268184 | 2021-01-23T17:38:20 | {"mesh": ["D008375"], "omim": ["248600"], "umls": ["C0751285"], "icd-10": ["E71.0"], "synonyms": ["Thiamine-responsive BCKD deficiency", "Thiamine-responsive MSUD", "Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency"]} |
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensi... | Dislocation of the hip-dysmorphism syndrome | c1832353 | 7,502 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2412 | 2021-01-23T18:31:16 | {"gard": ["1428"], "mesh": ["C563315"], "omim": ["601450"], "icd-10": ["Q87.2"], "synonyms": ["Collins-Pope syndrome"]} |
A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproduc... | Diethylstilbestrol syndrome | c0853695 | 7,503 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1916 | 2021-01-23T18:44:38 | {"umls": ["C0853695"], "icd-10": ["Q86.8"], "synonyms": ["DES embryofetopathy", "DES syndrome", "Diethylstilbestrol embryofetopathy", "Distilbene embryofetopathy"]} |
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.
## Epidemiology
OPMD is seen worldwide with varying prevalence rates. The estimated prevalence rate in Europe is 1/200,000-1/100,000. The hig... | Oculopharyngeal muscular dystrophy | c0270952 | 7,504 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=270 | 2021-01-23T18:22:26 | {"gard": ["7245"], "mesh": ["D039141"], "omim": ["164300"], "umls": ["C0270952"], "icd-10": ["G71.0"], "synonyms": ["OPMD"]} |
Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may p... | Idiopathic pulmonary artery dilatation | None | 7,505 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1676 | 2021-01-23T18:15:44 | {"icd-10": ["E25.7"]} |
A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
## Epidemiology
The prevalence of AOFVD is unknown.
## Clinical description
The clinical onset is... | Adult-onset foveomacular vitelliform dystrophy | c1842914 | 7,506 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99000 | 2021-01-23T18:59:14 | {"gard": ["10909"], "mesh": ["D057826"], "omim": ["153840", "608161", "616151", "616152"], "umls": ["C1842914"], "icd-10": ["H35.5"], "synonyms": ["AOFMD", "AVMD", "Adult-onset foveomacular dystrophy", "Adult-onset foveomacular dystrophy with choroidal neovascularization", "Adult-onset vitelliform macular dystrophy", "... |
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is a rare, benign, peripheral nerve sheath tumor disorder characterized by multiple, painful, mucin-rich plexiform neurofibromas located in the orbits, cranium, large spinal nerves and mucosa, associated with a marfanoid habitus, enlarged corneal n... | Painful orbital and systemic neurofibromas-marfanoid habitus syndrome | None | 7,507 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300501 | 2021-01-23T18:10:12 | {"gard": ["11006"]} |
A number sign (#) is used with this entry because of evidence that Mitchell-Riley syndrome (MTCHRS) is caused by homozygous or compound heterozygous mutation in the RFX6 gene (612659) on chromosome 6q22.
Description
Mitchell-Riley syndrome is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atr... | MITCHELL-RILEY SYNDROME | c2748662 | 7,508 | omim | https://www.omim.org/entry/615710 | 2019-09-22T15:51:17 | {"mesh": ["C567570"], "omim": ["615710"], "orphanet": ["293864"], "synonyms": ["Alternative titles", "DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA"]} |
A number sign (#) is used with this entry because variation in several different genes, including the human leukocyte antigens (e.g., HLA-DR; see 142860), likely influences the response to the hepatitis B vaccine.
Description
More than 2 billion people have been infected with the hepatitis B virus (HBV; see 610424)... | HEPATITIS B VACCINE, RESPONSE TO | c1840634 | 7,509 | omim | https://www.omim.org/entry/142395 | 2019-09-22T16:40:21 | {"omim": ["142395"], "synonyms": ["Alternative titles", "HBV VACCINE, RESPONSE TO"]} |
Hypospadias
Other namespronounce = /haɪpoʊˈspeɪdiəs/[1][2]
Different types of hypospadias
SpecialtyUrology, medical genetics
Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location in the head of the penis. It is the second-most common ... | Hypospadias | c0848558 | 7,510 | wikipedia | https://en.wikipedia.org/wiki/Hypospadias | 2021-01-18T19:02:53 | {"mesh": ["D007021"], "umls": ["C0848558"], "orphanet": ["440"], "wikidata": ["Q1132108"]} |
This article is about medically-recognized chronic adrenal insufficiency. For a term used in alternative medicine, see Adrenal fatigue.
Adrenal insufficiency
Adrenal gland
SpecialtyEndocrinology
Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid h... | Adrenal insufficiency | c0001623 | 7,511 | wikipedia | https://en.wikipedia.org/wiki/Adrenal_insufficiency | 2021-01-18T18:49:52 | {"mesh": ["D000309"], "umls": ["C0001623"], "icd-9": ["255.4"], "icd-10": ["E27.1", "E27.4"], "wikidata": ["Q2507454"]} |
Boomerang dysplasia
Other namesDwarfism with short, bowed, rigid limbs and characteristic facies
Boomerang dysplasia has an autosomal dominant pattern of inheritance.
SpecialtyMedical genetics
Boomerang dysplasia is a lethal form of osteochondrodysplasia[1] known for a characteristic congenital feature... | Boomerang dysplasia | c0432201 | 7,512 | wikipedia | https://en.wikipedia.org/wiki/Boomerang_dysplasia | 2021-01-18T18:35:43 | {"gard": ["933"], "mesh": ["C536573"], "umls": ["C0432201"], "icd-9": ["754.44"], "icd-10": ["Q68.5"], "orphanet": ["1263"], "wikidata": ["Q4943512"]} |
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such ... | Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly | None | 7,513 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289661 | 2021-01-23T19:02:18 | {"icd-10": ["C83.3"], "synonyms": ["EBV-positive DLBCL of the elderly"]} |
Supernumerary root
SpecialtyDentistry
Supernumerary roots is a condition found in teeth when there may be a larger number of roots than expected. The most common teeth affected are mandibular (lower) canines, premolars, and molars, especially third molars. Canines and most premolars, except for maxillary (uppe... | Supernumerary root | c0266038 | 7,514 | wikipedia | https://en.wikipedia.org/wiki/Supernumerary_root | 2021-01-18T19:06:55 | {"umls": ["C0266038"], "icd-9": ["520.2"], "icd-10": ["K00.2"], "wikidata": ["Q7644076"]} |
Paroxysmal nocturnal dyspnoea
SpecialtyPulmonology
Paroxysmal nocturnal dyspnea or paroxysmal nocturnal dyspnoea (PND) is an attack of severe shortness of breath and coughing that generally occurs at night.[1] It usually awakens the person from sleep, and may be quite frightening.[2] Though simple orthopne... | Paroxysmal nocturnal dyspnoea | c0013405 | 7,515 | wikipedia | https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_dyspnoea | 2021-01-18T18:56:44 | {"mesh": ["D004418"], "icd-9": ["428.1"], "icd-10": ["E50.1"], "wikidata": ["Q3229220"]} |
Human mental dissociative disorder
Depersonalization-derealization disorder
Illustration of depersonalization or a detachment from self
SpecialtyPsychiatry, clinical psychology
SymptomsDepersonalization, Derealization
Usual onsetYoung adulthood[1]
Durationchronic, episodic
TreatmentPsychotherapy
Freque... | Depersonalization-derealization disorder | c0683416 | 7,516 | wikipedia | https://en.wikipedia.org/wiki/Depersonalization-derealization_disorder | 2021-01-18T19:00:17 | {"gard": ["6260"], "mesh": ["D003861"], "umls": ["C0683416"], "icd-10": ["F48.1"], "wikidata": ["Q2338307"]} |
A number sign (#) is used with this entry because of evidence that multisystemic smooth muscle dysfunction syndrome (MSMDS) is caused by heterozygous mutation in the ACTA2 gene (102620) on chromosome 10q23.
See also familial thoracic aortic aneurysm (AAT6; 611788), which can also be caused by ACTA2 mutation.
Cl... | MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | c3151201 | 7,517 | omim | https://www.omim.org/entry/613834 | 2019-09-22T15:57:17 | {"omim": ["613834"], "orphanet": ["404463"], "synonyms": ["Alternative titles", "MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-27 (SCAR27) is caused by homozygous or compound heterozygous mutation in the GDAP2 gene (618128) on chromosome 1p12.
Description
Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neur... | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27 | None | 7,518 | omim | https://www.omim.org/entry/618369 | 2019-09-22T15:42:25 | {"omim": ["618369"]} |
A rare infectious disease of the nervous system caused by the bacterium Streptococcus pneumoniae, which is commonly part of the bacterial flora colonizing the nasopharyngeal mucosa. The disease is clinically characterized by typical symptoms of acute leptomeningitis, like fever, headache, neck stiffness, vomiting, an... | Pneumococcal meningitis | c0025295 | 7,519 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=55655 | 2021-01-23T17:05:08 | {"mesh": ["D008586"], "umls": ["C0025295"], "icd-10": ["G00.1"]} |
A rare lysosomal disease characterized by intermittent vomiting, hypotonia, lethargy, opisthotonos, and fatal outcome in early infancy, associated with deficient acid phosphatase in lysosomes. There have been no further descriptions in the literature since 1971.
*[v]: View this template
*[t]: Discuss this templa... | Lysosomal acid phosphatase deficiency | c0268410 | 7,520 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35121 | 2021-01-23T17:24:06 | {"mesh": ["C562645"], "omim": ["200950"], "umls": ["C0268410"], "icd-10": ["E83.3"]} |
Not to be confused with Hyperlipoproteinemia.
Hypolipoproteinemia
SpecialtyEndocrinology
Hypolipoproteinemia, hypolipidemia, or hypolipidaemia (British English) is a form of dyslipidemia that is defined by abnormally lowered levels of any or all lipids and/or lipoproteins in the blood. It occurs through genet... | Hypolipoproteinemia | c0020623 | 7,521 | wikipedia | https://en.wikipedia.org/wiki/Hypolipoproteinemia | 2021-01-18T18:28:22 | {"gard": ["8394"], "mesh": ["D007009"], "umls": ["C0020623"], "orphanet": ["181431"], "wikidata": ["Q5959735"]} |
Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occu... | Coloboma of optic disc | c0155299 | 7,522 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98947 | 2021-01-23T17:20:39 | {"gard": ["1438"], "mesh": ["C535970"], "icd-10": ["Q14.2"], "synonyms": ["Coloboma of optic papilla"]} |
A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
## Epidemiology
The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date.
## Clinical description
Dise... | Brain dopamine-serotonin vesicular transport disease | c4303546 | 7,523 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352649 | 2021-01-23T18:37:23 | {"omim": ["618049"], "icd-10": ["G25.8"]} |
Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.
## Epidemiology
The exact annual incidence of this form of PS is not known but the incidence o... | Pfeiffer syndrome type 2 | c0220658 | 7,524 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93259 | 2021-01-23T17:11:35 | {"mesh": ["D000168"], "omim": ["101600"], "icd-10": ["Q87.0"]} |
A number sign (#) is used with this entry because of evidence that familial hyperinsulinemic hypoglycemia-6 (HHF6) is caused by heterozygous mutation in the glutamate dehydrogenase (GDH) gene (GLUD1; 138130) on chromosome 10q23.
For a phenotypic description and a discussion of genetic heterogeneity of familial hyper... | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 | c1847555 | 7,525 | omim | https://www.omim.org/entry/606762 | 2019-09-22T16:10:04 | {"doid": ["0070217"], "mesh": ["C538375"], "omim": ["606762"], "orphanet": ["35878"], "synonyms": ["Alternative titles", "HYPERINSULINISM-HYPERAMMONEMIA SYNDROME", "HI/HA syndrome"], "genereviews": ["NBK1375"]} |
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Find sources: "Iodine deficiency" – news · newspapers · books · scholar · JSTOR (March 2008) (Learn how and when to remove this templa... | Iodine deficiency | c0342199 | 7,526 | wikipedia | https://en.wikipedia.org/wiki/Iodine_deficiency | 2021-01-18T19:03:17 | {"umls": ["C0342199"], "icd-10": ["E02", "E00"], "wikidata": ["Q18377123"]} |
A number sign (#) is used with this entry because of evidence that idiopathic basal ganglia calcification-6 (IBGC6) is caused by heterozygous mutation in the XPR1 gene (605237) on chromosome 1q25.
Description
Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterize... | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 | c0393590 | 7,527 | omim | https://www.omim.org/entry/616413 | 2019-09-22T15:48:56 | {"omim": ["616413"], "orphanet": ["1980"], "genereviews": ["NBK1421"]} |
## Description
Nasopharyngeal carcinoma is a multifactorial malignancy associated with both genetic and environmental factors. The cancer arises from the epithelium of the nasopharynx (summary by Tse et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to ... | NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2 | c0238301 | 7,528 | omim | https://www.omim.org/entry/161550 | 2019-09-22T16:37:36 | {"doid": ["9261"], "mesh": ["D009303"], "omim": ["161550"], "orphanet": ["150"]} |
A number sign (#) is used with this entry because autosomal recessive mental retardation-38 (MRT38) is caused by homozygous mutation in the HERC2 gene (605837) on chromosome 15q13.
Clinical Features
Puffenberger et al. (2012) reported 7 patients of Amish or mixed Amish/Mennonite descent with global developmental de... | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 | c3809753 | 7,529 | omim | https://www.omim.org/entry/615516 | 2019-09-22T15:51:50 | {"doid": ["0060308"], "omim": ["615516"], "orphanet": ["329195"], "synonyms": ["Developmental delay with ASD and gait instability"]} |
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This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropr... | Calcinosis | c0006663 | 7,530 | wikipedia | https://en.wikipedia.org/wiki/Calcinosis | 2021-01-18T18:29:33 | {"mesh": ["D002114"], "umls": ["C0006663"], "icd-9": ["275.4"], "wikidata": ["Q239027"]} |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and ... | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | None | 7,531 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508542 | 2021-01-23T17:01:37 | {"synonyms": ["MYSM1 deficiency"]} |
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts... | Craniotelencephalic dysplasia | c1857471 | 7,532 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1528 | 2021-01-23T16:56:04 | {"gard": ["1605"], "mesh": ["C535597"], "omim": ["218670"], "umls": ["C1857471"], "icd-10": ["Q04.3"]} |
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder involves a shortage (deficiency) of a substance called coenzyme Q10.
The severity, combination of signs and symptoms, and age of onset of primary coenzy... | Primary coenzyme Q10 deficiency | c3551954 | 7,533 | medlineplus | https://medlineplus.gov/genetics/condition/primary-coenzyme-q10-deficiency/ | 2021-01-27T08:24:45 | {"gard": ["10294", "10423"], "omim": ["607426", "614651", "614652", "612016", "614654", "614650", "616276", "616733", "615573"], "synonyms": []} |
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Find sources: "Onyalai" – news · newspapers · books · scholar · JSTOR (February 2019) (Learn how and when to remove this template mess... | Onyalai | None | 7,534 | wikipedia | https://en.wikipedia.org/wiki/Onyalai | 2021-01-18T18:30:17 | {"wikidata": ["Q7095133"]} |
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Skew deviation is an ... | Skew deviation | c0271381 | 7,535 | wikipedia | https://en.wikipedia.org/wiki/Skew_deviation | 2021-01-18T18:43:50 | {"mesh": ["D015835"], "umls": ["C0271381"], "wikidata": ["Q1614766"]} |
Dysmetria
SpecialtyNeurology
Dysmetria (English: wrong length) is a lack of coordination of movement typified by the undershoot or overshoot of intended position with the hand, arm, leg, or eye. It is a type of ataxia. It can also include an inability to judge distance or scale.[1]
Hypermetria and hypomet... | Dysmetria | c0234162 | 7,536 | wikipedia | https://en.wikipedia.org/wiki/Dysmetria | 2021-01-18T18:35:03 | {"mesh": ["D002524"], "icd-9": ["781.3"], "icd-10": ["R27"], "wikidata": ["Q517183"]} |
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The topic of this article may not meet Wikipedia's general notability guideline. Please help to demonstrate the notability of the topic by citing reliable seco... | Hybristophilia | None | 7,537 | wikipedia | https://en.wikipedia.org/wiki/Hybristophilia | 2021-01-18T18:40:55 | {"wikidata": ["Q1269190"]} |
A number sign (#) is used with this entry because of evidence that cone-rod dystrophy-9 (CORD9) is caused by homozygous or compound heterozygous mutation in the ADAM9 gene (602713) on chromosome 8p11.
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970... | CONE-ROD DYSTROPHY 9 | c3489532 | 7,538 | omim | https://www.omim.org/entry/612775 | 2019-09-22T16:00:40 | {"doid": ["0111020"], "mesh": ["D000071700"], "omim": ["120970", "612775"], "orphanet": ["1872"], "synonyms": []} |
## Clinical Features
Congenital ocular fibrosis syndrome is a hereditary ocular motility disorder in which restrictive ophthalmoplegia and blepharoptosis are associated with replacement of orbital striated muscle by fibrous tissue (see CFEOM1; 135700). Brodsky et al. (1989) reported a child with congenital ocular f... | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE | c1302995 | 7,539 | omim | https://www.omim.org/entry/609612 | 2019-09-22T16:05:48 | {"mesh": ["C580012"], "omim": ["609612"], "orphanet": ["45358"], "synonyms": ["Alternative titles", "CONGENITAL FIBROSIS SYNDROME WITH SYNERGISTIC DIVERGENCE", "EXTERNAL OPHTHALMOPLEGIA WITH SYNERGISTIC DIVERGENCE"]} |
Not to be confused with Guillain–Barré syndrome.
Gilbert's syndrome
Other namesMeulengracht syndrome, Gilbert-Lereboullet syndrome, hyperbilirubinemia Arias type, hyperbilirubinemia type 1, familial cholemia, familial nonhemolytic jaundice[1][2]
Bilirubin
Pronunciation
* /ʒiːlˈbɛərz/ zheel-BAIRZ
Spec... | Gilbert's syndrome | c0017551 | 7,540 | wikipedia | https://en.wikipedia.org/wiki/Gilbert%27s_syndrome | 2021-01-18T18:43:41 | {"gard": ["6507"], "mesh": ["D005878"], "umls": ["C0017551"], "icd-9": ["277.4"], "icd-10": ["E80.4"], "orphanet": ["357"], "wikidata": ["Q752216"]} |
A number sign (#) is used with this entry because variation in the GOT1 gene (138180) results in low serum glutamate oxaloacetate transaminase, also known as aspartate aminotransferase (AST).
Mapping
Shen et al. (2011) carried out a genomewide association study of serum AST (EC 2.6.1.1) activity in 866 Amish pa... | ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 | c3280741 | 7,541 | omim | https://www.omim.org/entry/614419 | 2019-09-22T15:55:20 | {"omim": ["614419"], "synonyms": ["Alternative titles", "ASTQTL1"]} |
Canine cognitive dysfunction (CCD) is a disease prevalent in dogs that exhibit symptoms of dementia or Alzheimer's disease shown in humans.[1] CCD creates pathological changes in the brain that slow the mental functioning of dogs resulting in loss of memory, motor function, and learned behaviors from training early i... | Canine cognitive dysfunction | None | 7,542 | wikipedia | https://en.wikipedia.org/wiki/Canine_cognitive_dysfunction | 2021-01-18T18:56:16 | {"wikidata": ["Q17115842"]} |
In a highly inbred Arab family with ataxia-telangiectasia of complementation group A (ATA; 208900), Ziv et al. (1992) found 3 individuals who had ataxia, hypotonia, microcephaly, and congenital cataracts with nystagmus. Mental retardation was also observed in 1 of the 3 persons. The one individual appeared to be affe... | ATAXIA-MICROCEPHALY-CATARACT SYNDROME | c0796056 | 7,543 | omim | https://www.omim.org/entry/208870 | 2019-09-22T16:30:39 | {"mesh": ["C563086"], "omim": ["208870"], "synonyms": ["Alternative titles", "AMC SYNDROME"]} |
A number sign (#) is used with this entry because autosomal recessive spastic paraplegia-44 (SPG44) can be caused by homozygous mutation in the GJC2 gene (608803) on chromosome 1q42.
Clinical Features
Orthmann-Murphy et al. (2009) reported 3 members of a large Italian family with spastic paraplegia. Although mild s... | SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE | c2750784 | 7,544 | omim | https://www.omim.org/entry/613206 | 2019-09-22T15:59:21 | {"doid": ["0110796"], "mesh": ["C567707"], "omim": ["613206"], "orphanet": ["320401"]} |
For other uses, see Delusion (disambiguation).
See also: Delusional disorder
Firm and fixed belief in that which is based on inadequate grounding
Delusion
SpecialtyPsychiatry
A delusion is a fixed belief that is not amenable to change in light of conflicting evidence.[1] As a pathology, it is distinct from ... | Delusion | c0011253 | 7,545 | wikipedia | https://en.wikipedia.org/wiki/Delusion | 2021-01-18T18:49:44 | {"mesh": ["D003702"], "umls": ["C0011253"], "wikidata": ["Q189643"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340).
Cytogenetics
Shimokawa et al. (2005) reported a 37-week-old infant with left diaphragmatic hernia who had a 46,XY,del(8)(p23.1p23.1) karyotype. Surgical repair was unsucces... | DIAPHRAGMATIC HERNIA 2 | c0235833 | 7,546 | omim | https://www.omim.org/entry/222400 | 2019-09-22T16:28:43 | {"doid": ["3827"], "mesh": ["D065630"], "omim": ["222400"], "orphanet": ["2140"]} |
A number sign (#) is used with this entry because transient bullous dermolysis of the newborn (TBDN) is caused by heterozygous or compound heterozygous mutation in the COL7A1 gene (120120) on chromosome 7p21.
Autosomal dominant and autosomal recessive epidermolysis bullosa dystrophica (131750, 226600) are allelic di... | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN | c1851573 | 7,547 | omim | https://www.omim.org/entry/131705 | 2019-09-22T16:41:33 | {"doid": ["0111345"], "mesh": ["C536979"], "omim": ["131705"], "orphanet": ["79411"], "synonyms": ["Alternative titles", "EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM", "DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL"], "genereviews": ["NBK1304"]} |
Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss).
*[v]: View this template
... | Idiopathic chronic eosinophilic pneumonia | c0008680 | 7,548 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2902 | 2021-01-23T18:20:26 | {"umls": ["C0008680", "C2930941"], "icd-10": ["J82"], "synonyms": ["Chronic eosinophilic pneumonia"]} |
A rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or ur... | Autosomal dominant spastic paraplegia type 3 | c2931355 | 7,549 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100984 | 2021-01-23T17:03:27 | {"gard": ["5041"], "mesh": ["C536864"], "omim": ["182600"], "umls": ["C2931355"], "icd-10": ["G11.4"], "synonyms": ["Strümpell disease"]} |
Infectious disease caused by poliovirus
"Poliomyelitis" redirects here. For the virus, see Poliovirus. For other uses, see Polio (disambiguation).
Polio
Other namesPoliomyelitis, infantile paralysis
A man with a smaller right leg due to poliomyelitis
Pronunciation
* /ˌpoʊlioʊˌmaɪəˈlaɪtɪs/
SpecialtyN... | Polio | c0032371 | 7,550 | wikipedia | https://en.wikipedia.org/wiki/Polio | 2021-01-18T19:00:16 | {"gard": ["7413"], "mesh": ["D011051"], "umls": ["C0032371"], "orphanet": ["2912"], "wikidata": ["Q12195"]} |
Myoclonus dystonia
Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous muscle contraction causing abnormal posture. The prevalence of myoclonus dystonia has not been reported, however, this disorder falls under the umbrella of movement disorders which affect... | Myoclonic dystonia | c1834570 | 7,551 | wikipedia | https://en.wikipedia.org/wiki/Myoclonic_dystonia | 2021-01-18T18:50:02 | {"mesh": ["C536096"], "orphanet": ["36899"], "wikidata": ["Q3710440"]} |
The premycotic phase is a phase of mycosis fungoides in which a patient has areas of red, scaly, itchy skin on areas of the body that are usually not exposed to sun. This is early-phase mycosis fungoides, but it is hard to diagnose the rash as mycosis fungoides during this phase. The premycotic phase may last fro... | Premycotic phase | None | 7,552 | wikipedia | https://en.wikipedia.org/wiki/Premycotic_phase | 2021-01-18T18:54:00 | {"wikidata": ["Q7240516"]} |
X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usual... | X-linked hypophosphatemia | c0733682 | 7,553 | gard | https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia | 2021-01-18T17:57:03 | {"mesh": ["D053098"], "omim": ["307800"], "orphanet": ["89936"], "synonyms": ["X-linked hypophosphatemic rickets", "XLH", "Hypophosphatemic rickets, X-linked dominant", "Hypophophatemia, X-linked", "Vitamin D-Resistant Rickets, X-linked", "Hypophophatemic vitamin D-resistant rickets", "HPDR"]} |
In a family with several cases of Hashimoto struma, DeGroot et al. (1962) demonstrated an abnormal, small, iodinated protein in the serum and suggested that a defect in thyroid basement membrane may account for the appearance of this protein in the blood. Three sibs, their father, and their paternal aunt were affecte... | HASHIMOTO THYROIDITIS | c0677607 | 7,554 | omim | https://www.omim.org/entry/140300 | 2019-09-22T16:40:26 | {"mesh": ["D050031"], "omim": ["140300"], "icd-9": ["245.2"], "icd-10": ["E06.3"], "synonyms": ["Alternative titles", "HT", "HASHIMOTO STRUMA", "HYPOTHYROIDISM, AUTOIMMUNE"]} |
Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth, an unresponsiveness to soft touch, severe non-progressive cognitive delay, and normal motor movement/behav... | Congenital insensitivity to pain with severe intellectual disability | None | 7,555 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=453510 | 2021-01-23T17:12:15 | {"synonyms": ["Congenital absence of pain with severe intellectual disability", "Congenital analgesia with severe intellectual disability", "Congenital insensitivity to pain with preserved temperature sensation", "Congenital insensitivity to pain with severe non-progressive cognitive delay"]} |
For a discussion of genetic heterogeneity of coronary heart disease (CHD), see 607339.
Clinical Features
Engert et al. (2008) studied 133 affected and 187 unaffected individuals from 50 French Canadian families with early-onset coronary heart disease, descended from a founder population in the Saguenay-Lac-Saint-Je... | CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9 | c2677580 | 7,556 | omim | https://www.omim.org/entry/612030 | 2019-09-22T16:02:25 | {"omim": ["612030"]} |
A number sign (#) is used with this entry because of evidence that cerebrooculofacioskeletal syndrome-1 (COFS1) is caused by homozygous or compound heterozygous mutation in the ERCC6 gene (609413) on chromosome 10q11.
Cockayne syndrome type B (CSB; 133540) is an allelic disorder.
Description
Cerebrooculofacioskele... | CEREBROOCULOFACIOSKELETAL SYNDROME 1 | c0009207 | 7,557 | omim | https://www.omim.org/entry/214150 | 2019-09-22T16:29:49 | {"mesh": ["D003057"], "omim": ["214150"], "orphanet": ["191", "1466"], "synonyms": ["Alternative titles", "COFS SYNDROME", "PENA-SHOKEIR SYNDROME, TYPE II"]} |
Advanced stage of peripheral artery disease
Chronic limb threatening ischemia
Other namesCritical limb ischemia, limb threat
Chronic limb threatening ischemia (CLTI), also known as critical limb ischemia (CLI), is an advanced stage of peripheral artery disease (PAD). It is defined as ischemic rest pain, arter... | Chronic limb threatening ischemia | c1142264 | 7,558 | wikipedia | https://en.wikipedia.org/wiki/Chronic_limb_threatening_ischemia | 2021-01-18T18:57:03 | {"umls": ["C1142264"], "wikidata": ["Q7316059"]} |
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.
## Epidemiology
Prevalenc... | Spinocerebellar ataxia type 21 | c1843891 | 7,559 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98773 | 2021-01-23T17:31:28 | {"gard": ["9999"], "mesh": ["C537200"], "omim": ["607454"], "umls": ["C1843891"], "icd-10": ["G11.1"], "synonyms": ["SCA21"]} |
Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.
## Epidemiology
Prevalence is unknown but most of these syndromes have been reported in only a few families.
## Clinical description
At presen... | X-linked intellectual disability-hypotonic face syndrome | c0796003 | 7,560 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73220 | 2021-01-23T19:11:41 | {"mesh": ["C537457"], "omim": ["309580"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see (181500).
Mapping
Fallin et al. (2003) performed a genomewide linkage scan for schizophrenia (181500) susceptibility regions in 29 multiplex families of Ashkenazi Jewish descent. Although there is no evidence that t... | SCHIZOPHRENIA 11 | c1842605 | 7,561 | omim | https://www.omim.org/entry/608078 | 2019-09-22T16:08:20 | {"omim": ["608078"], "synonyms": ["Alternative titles", "SCZD11", "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED"]} |
Epstein–Barr virus positive diffuse large B-cell lymphoma, not otherwise specified (also termed: EBV positive diffuse large B cell lymphoma, NOS; EBV+ DLBCL, NOS; or EBV+ DLBCL) was initially termed in the WHO 2008 classification as Epstein–Barr virus -positive DLBCL of the elderly because it was a specific type of l... | Epstein Barr virus positive diffuse large B-cell lymphoma, not otherwise specified | c2700007 | 7,562 | wikipedia | https://en.wikipedia.org/wiki/Epstein_Barr_virus_positive_diffuse_large_B-cell_lymphoma,_not_otherwise_specified | 2021-01-18T19:04:10 | {"umls": ["C2700007"], "orphanet": ["289661"], "wikidata": ["Q25112638"]} |
For the term formerly used in reference to compulsive drinking of alcohol, see Dipsomania.
Primary polydipsia
Other namesPsychogenic polydipsia, compulsive drinking, psychosis-intermittent hyponatremia-polydipsia (PIP) syndrome
Patients with PPD often prefer ice cold water
SpecialtyPsychiatry
SymptomsXerosto... | Primary polydipsia | c0395005 | 7,563 | wikipedia | https://en.wikipedia.org/wiki/Primary_polydipsia | 2021-01-18T18:48:17 | {"mesh": ["D059607"], "wikidata": ["Q929963"]} |
## Clinical Features
Al Gazali et al. (1996) reported a female infant, born of double first cousins of Pakistani origin, with large head, wide anterior fontanel, corneal clouding, atretic auditory canals, severe shortness of limbs, especially of the distal segments, and bilateral clubfoot. Skeletal survey showe... | LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE | c1832435 | 7,564 | omim | https://www.omim.org/entry/601356 | 2019-09-22T16:14:58 | {"mesh": ["C537598"], "omim": ["601356"]} |
A number sign (#) is used with this entry because of evidence that optic atrophy-10 (OPA10) with or without ataxia, mental retardation, and seizures can be caused by homozygous or compound heterozygous mutation in the RTN4IP1 gene (610502) on chromosome 6q21.
For a discussion of genetic heterogeneity of optic atroph... | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES | c4225227 | 7,565 | omim | https://www.omim.org/entry/616732 | 2019-09-22T15:48:04 | {"omim": ["616732"], "orphanet": ["98676"], "synonyms": ["Autosomal recessive non-syndromic optic atrophy"]} |
A number sign (#) is used with this entry because of evidence that Popov-Chang syndrome (POPCHAS) is caused by heterozygous mutation in the YWHAZ gene (601288) on chromosome 8q22.
Description
Popov-Chang syndrome (POPCHAS) is a neurodevelopmental disorder characterized by global developmental delay apparent from in... | POPOV-CHANG SYNDROME | None | 7,566 | omim | https://www.omim.org/entry/618428 | 2019-09-22T15:41:59 | {"omim": ["618428"], "synonyms": ["Alternative titles", "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND DYSMORPHIC FACIAL FEATURES"]} |
Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, ... | Fragile X-associated primary ovarian insufficiency | c4552079 | 7,567 | medlineplus | https://medlineplus.gov/genetics/condition/fragile-x-associated-primary-ovarian-insufficiency/ | 2021-01-27T08:24:46 | {"mesh": ["D016649"], "omim": ["311360"], "synonyms": []} |
A rare ophthalmic disorder characterized by a usually congenital and unilateral round or oval, gray, white, or yellowish depression in the optic disc. There may be more than one pit present in one eye, and the anomaly is most commonly found in the inferotemporal region of the optic disc, although any sector may be in... | Optic disc pit | c0338504 | 7,568 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519404 | 2021-01-23T18:01:37 | {} |
Disease where the kidneys fail to adequately filter waste products from the blood
Kidney failure
Other namesRenal failure, end-stage renal disease (ESRD), stage 5 chronic kidney disease[1]
A hemodialysis machine which is used to replace the function of the kidneys
SpecialtyNephrology
SymptomsLeg swelling, fe... | Kidney failure | c0035078 | 7,569 | wikipedia | https://en.wikipedia.org/wiki/Kidney_failure | 2021-01-18T18:36:41 | {"mesh": ["D051437"], "umls": ["C1565489", "C1839604", "C0035078"], "wikidata": ["Q476921"]} |
A number sign (#) is used with this entry because of evidence that congenital nongoitrous hypothyroidism-2 (CHNG2) is caused by heterozygous mutation in the PAX8 gene (167415) on chromosome 2q14.
For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidi... | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 | c0151516 | 7,570 | omim | https://www.omim.org/entry/218700 | 2019-09-22T16:29:14 | {"doid": ["0070124"], "mesh": ["D050033"], "omim": ["218700"], "orphanet": ["95720", "95719", "95713", "95712"], "synonyms": ["Alternative titles", "THYROID DYSGENESIS", "THYROID AGENESIS", "THYROID HYPOPLASIA", "THYROID, ECTOPIC", "HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS", "HYPOTHYROIDISM, ATHYREOTIC", "... |
Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features.
## Epidemiology
Trisomy 20p is rarely reported. To ... | Trisomy 20p | c2930888 | 7,571 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261318 | 2021-01-23T17:45:41 | {"gard": ["5333"], "mesh": ["C535371"], "umls": ["C0265480", "C2930888"], "icd-10": ["Q92.2"], "synonyms": ["Dup(20p)", "Duplication of 20p", "Partial duplication of chromosome 20p", "Partial duplication of the short arm of chromosome 20", "Partial trisomy of chromosome 20p", "Partial trisomy of the short arm of chromo... |
Webbed penis
Other namesPenis palmatus, penoscrotal fusion
SpecialtyUrology
Webbed penis also known as buried or concealed penis is an acquired or congenital condition in which the scrotal skin extends onto the ventral penile shaft. The penile shaft is buried in scrotum or tethered to the scrotal midline by ... | Webbed penis | c0431670 | 7,572 | wikipedia | https://en.wikipedia.org/wiki/Webbed_penis | 2021-01-18T19:01:20 | {"umls": ["C0431670"], "wikidata": ["Q14594748"]} |
A laryngeal cleft or laryngotracheoesophageal cleft is a rare congenital abnormality in the posterior laryngo-tracheal wall.[1] It occurs in approximately 1 in 10,000 to 20,000 births.[2] It means there is a communication between the oesophagus and the trachea, which allows food or fluid to pass into the airway.[... | Laryngeal cleft | c1840311 | 7,573 | wikipedia | https://en.wikipedia.org/wiki/Laryngeal_cleft | 2021-01-18T18:40:20 | {"gard": ["3188"], "mesh": ["C537875"], "umls": ["C1840311"], "orphanet": ["2004"], "wikidata": ["Q6491956"]} |
A number sign (#) is used with this entry because this form of nonspecific X-linked mental retardation is caused by mutation in the ARX gene (300382) on chromosome Xp21.
Description
ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders... | MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED | c2931498 | 7,574 | omim | https://www.omim.org/entry/300419 | 2019-09-22T16:20:22 | {"mesh": ["C567906"], "omim": ["300419"], "orphanet": ["777"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED 29", "MENTAL RETARDATION, X-LINKED 32", "MENTAL RETARDATION, X-LINKED 33", "MENTAL RETARDATION, X-LINKED 38", "MENTAL RETARDATION, X-LINKED 43", "MENTAL RETARDATION, X-LINKED 52", "MENTAL RETA... |
A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently a... | Acrodermatitis continua of Hallopeau | c0392439 | 7,575 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163931 | 2021-01-23T18:45:58 | {"icd-10": ["L40.2"]} |
Rivera et al. (1988) reported an apparently 'new' form of thoracomelic dysplasia in 2 children, a brother and sister of consanguineous parents. The salient features were bell-shaped thorax owing to short ribs, short-limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulas, and improveme... | THORACOMELIC DYSPLASIA | c2931227 | 7,576 | omim | https://www.omim.org/entry/273740 | 2019-09-22T16:21:45 | {"mesh": ["C536516"], "omim": ["273740"], "orphanet": ["1803"], "synonyms": ["Alternative titles", "'THORACO-LIMB' DYSPLASIA"]} |
CYLD cutaneous syndrome is a genetic condition characterized by the growth of multiple noncancerous (benign) skin tumors. These tumors develop from structures associated with the skin (skin appendages), such as hair follicles. More than one type of skin tumor often develops, including benign growths called cylindroma... | CYLD cutaneous syndrome | c1857941 | 7,577 | medlineplus | https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome/ | 2021-01-27T08:25:00 | {"gard": ["10179", "9707", "10867"], "mesh": ["C536611"], "omim": ["605041", "132700", "601606"], "synonyms": []} |
Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic se... | Pyridoxine-dependent epilepsy | c1849508 | 7,578 | medlineplus | https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/ | 2021-01-27T08:25:47 | {"gard": ["9298"], "mesh": ["C536254"], "omim": ["266100"], "synonyms": []} |
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to... | 15q overgrowth syndrome | c3553858 | 7,579 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314585 | 2021-01-23T19:10:21 | {"omim": ["614846"], "icd-10": ["Q87.3"]} |
A number sign (#) is used with this entry because a subset of renal cell carcinomas (RCC) harbor translocations involving chromosome Xp11 with breakpoints impacting the TFE3 transcription factor gene (314310).
Description
Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chr... | RENAL CELL CARCINOMA, Xp11-ASSOCIATED | c3275446 | 7,580 | omim | https://www.omim.org/entry/300854 | 2019-09-22T16:19:28 | {"doid": ["4450"], "omim": ["300854"], "orphanet": ["319308"], "synonyms": ["Carcinoma associated with MITF/TFE translocation", "Translocation renal cell carcinoma"]} |
Neonatal scleroderma is a very rare, secondary, neonatal autoimmune disease characterized by neonatal-onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies a... | Neonatal scleroderma | c4509425 | 7,581 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=398127 | 2021-01-23T18:18:27 | {"icd-10": ["P83.8"]} |
Vertebral artery dissection
Other namesVertebral dissection
Arteries of the neck, with arrows indicating the right vertebral artery
SpecialtyCardiology
SymptomsHeadache, difficulty speaking, difficulty swallowing, poor coordination
ComplicationsStroke, subarachnoid hemorrhage
CausesTrauma, Ehler's Danlos ... | Vertebral artery dissection | c0338586 | 7,582 | wikipedia | https://en.wikipedia.org/wiki/Vertebral_artery_dissection | 2021-01-18T19:08:16 | {"mesh": ["D020217"], "icd-9": ["443.24"], "icd-10": ["I67.0"], "wikidata": ["Q7922751"]} |
A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis... | Filariasis | c0016085 | 7,583 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2034 | 2021-01-23T18:20:53 | {"mesh": ["D005368"], "umls": ["C0016085"], "icd-10": ["B74.0", "B74.1", "B74.2", "B74.3", "B74.4", "B74.8", "B74.9"]} |
Urostealith is a fatty or resinous substance identified by the Austrian chemist J. F. Heller in 1845 as the main constituent of some bladder stones.[1]
According to Heller's and other contemporary descriptions, urostealith is a soft brown substance, insoluble in water, sparingly soluble in alcohol and easily soluble... | Urostealith | None | 7,584 | wikipedia | https://en.wikipedia.org/wiki/Urostealith | 2021-01-18T18:43:11 | {"wikidata": ["Q7901059"]} |
Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from ... | Charcot-Marie-Tooth disease type 1E | c3495591 | 7,585 | gard | https://rarediseases.info.nih.gov/diseases/9190/charcot-marie-tooth-disease-type-1e | 2021-01-18T18:01:31 | {"mesh": ["C566136"], "omim": ["118300"], "orphanet": ["90658"], "synonyms": ["CMT 1E", "Charcot-Marie-Tooth disease, demyelinating, Type 1E", "Charcot-Marie-Tooth disease and deafness", "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant", "Charcot Marie Tooth disease type 1E"]} |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). White matter consists of nerve fibers covered ... | Megalencephalic leukoencephalopathy with subcortical cysts | c1858854 | 7,586 | gard | https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts | 2021-01-18T17:59:11 | {"mesh": ["C536141"], "omim": ["604004"], "umls": ["C1858854"], "orphanet": ["2478"], "synonyms": ["MLC", "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts", "LVM", "Megalencephaly-cystic leukodystrophy", "Leukoencephalopathy with swelling and cysts"]} |
Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. T... | Hawkinsinuria | c2931042 | 7,587 | gard | https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria | 2021-01-18T18:00:09 | {"mesh": ["C535845"], "omim": ["140350"], "umls": ["C2931042"], "orphanet": ["2118"], "synonyms": ["4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency"]} |
A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms l... | Angiosarcoma | c0018923 | 7,588 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263413 | 2021-01-23T17:35:35 | {"mesh": ["D006394"], "umls": ["C0018923"], "icd-10": ["C49.9"]} |
Most cases of this rare lesion have been nonfamilial, although Schock (1969) described the disorder in an Indian woman and 3 of her daughters. The majority of cases have been in Eskimos and in American Indians, from the Warm Springs Indians of Oregon to the Chavante Indians of Brazil. The disorder may be viral rather... | FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA | c1851009 | 7,589 | omim | https://www.omim.org/entry/136400 | 2019-09-22T16:40:59 | {"mesh": ["C565008"], "omim": ["136400"]} |
Group of genetic disorders that mainly affect the bones
Osteogenesis imperfecta
Other namesBrittle bone disease,[1] Lobstein syndrome,[2] fragilitas ossium,[1] Vrolik disease,[1] osteopsathyrosis, Porak disease, Durante disease[3]
The classic blue sclerae of a person with osteogenesis imperfecta
SpecialtyPedia... | Osteogenesis imperfecta | c0029434 | 7,590 | wikipedia | https://en.wikipedia.org/wiki/Osteogenesis_imperfecta | 2021-01-18T18:36:32 | {"gard": ["1017"], "mesh": ["D010013"], "umls": ["C0029434", "C0023931"], "icd-9": ["756.51756.51"], "icd-10": ["Q78.078.0"], "orphanet": ["666"], "wikidata": ["Q749409"]} |
Large granular lymphocytic leukemia
SpecialtyHematology, oncology
Large granular lymphocytic (LGL) leukemia is a chronic lymphoproliferative disorder that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.[1]
It is divided in two main cate... | Large granular lymphocytic leukemia | c1955861 | 7,591 | wikipedia | https://en.wikipedia.org/wiki/Large_granular_lymphocytic_leukemia | 2021-01-18T18:59:54 | {"gard": ["9812"], "mesh": ["D054066"], "umls": ["C1955861"], "icd-10": ["C91.7"], "orphanet": ["86872"], "wikidata": ["Q6489151"]} |
A number sign (#) is used with this entry because of evidence that resistance and sensitivity to coumarin (warfarin) treatment can be influenced by variations in several genes, including CYP2A6 (122720), VKORC1 (608547), CYP2C9 (601130), and CYP4F2 (604426).
Coumarin sensitivity can also result from certain muta... | COUMARIN RESISTANCE | c0750384 | 7,592 | omim | https://www.omim.org/entry/122700 | 2019-09-22T16:42:50 | {"mesh": ["C563039"], "omim": ["122700"], "synonyms": ["Alternative titles", "COUMARIN, POOR METABOLISM OF", "WARFARIN RESISTANCE"]} |
A number sign (#) is used with this entry because of evidence that infantile hypercalcemia-1 (HCINF1) is caused by homozygous or compound heterozygous mutation in the CYP24A1 gene (126065) on chromosome 20q13.
Description
Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting,... | HYPERCALCEMIA, INFANTILE, 1 | c0268080 | 7,593 | omim | https://www.omim.org/entry/143880 | 2019-09-22T16:40:09 | {"mesh": ["C562581"], "omim": ["143880"], "orphanet": ["300547"], "synonyms": ["Alternative titles", "HYPERCALCEMIA, IDIOPATHIC, OF INFANCY", "Familial infantile hypercalcemia with suppressed intact parathyroid hormone"]} |
For muscular fiber damage, see Tendinitis.
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: "Tenonitis" – news · newspapers · books · scholar · JSTOR (September 2017) (... | Tenonitis | c0155259 | 7,594 | wikipedia | https://en.wikipedia.org/wiki/Tenonitis | 2021-01-18T19:02:17 | {"umls": ["C0155259"], "wikidata": ["Q7700555"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant osteopetrosis-3 (OPTA3) is caused by heterozygous mutation in the PLEKHM1 gene (611466) on chromosome 17q21.
An autosomal recessive form of osteopetrosis (OPTB6; 611497) is also caused by mutation in the PLEKHM1 gene.
Descript... | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 | None | 7,595 | omim | https://www.omim.org/entry/618107 | 2019-09-22T15:43:37 | {"omim": ["618107"]} |
A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with ataxia, hypotonia, and microcephaly (NEDAHM) is caused by homozygous mutation in the SVBP gene (617853) on chromosome 1p34.
Clinical Features
Iqbal et al. (2019) reported 4 patients from 2 unrelated families with a s... | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY | None | 7,596 | omim | https://www.omim.org/entry/618569 | 2019-09-22T15:41:23 | {"omim": ["618569"]} |
Muscle phosphoglycerate mutase deficiency (PGAMD) is a metabolic myopathy characterised by exercise-induced cramp, myoglobinuria, and presence of tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels are increased between episodes of myoglobinuria. Less than 50 cases have been described so far. T... | Glycogen storage disease due to phosphoglycerate mutase deficiency | c0268149 | 7,597 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97234 | 2021-01-23T18:31:30 | {"gard": ["9964"], "mesh": ["C536176"], "omim": ["261670"], "umls": ["C0268149"], "icd-10": ["E74.0"], "synonyms": ["GSD due to phosphoglycerate mutase deficiency", "GSD type 10", "Glycogenosis due to phosphoglycerate mutase deficiency", "Muscle phosphoglycerate mutase deficiency", "Myopathy due to phosphoglycerate mut... |
Arterial dissection occurs when blood enters a vessel wall through an intimal tear and a false lumen is formed within the media. The arteries most commonly affected by dissection are the aorta, renal artery, and extracranial internal carotid artery, in that order of frequency. A genetic predisposition to arterial dis... | ARTERIAL DISSECTION WITH LENTIGINOSIS | c1838122 | 7,598 | omim | https://www.omim.org/entry/600459 | 2019-09-22T16:16:12 | {"mesh": ["C563937"], "omim": ["600459"], "orphanet": ["1682"]} |
A number sign (#) is used with this entry because Temtamy syndrome (TEMTYS) is caused by homozygous or compound heterozygous mutation in the C12ORF57 gene (615140) on chromosome 12p13.
Description
Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dy... | TEMTAMY SYNDROME | c1857512 | 7,599 | omim | https://www.omim.org/entry/218340 | 2019-09-22T16:29:17 | {"mesh": ["C536959"], "omim": ["218340"], "orphanet": ["1777"], "synonyms": ["Alternative titles", "MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM"]} |
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