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Reticulate acropigmentation of Kitamura
Other namesRAK[1]
SpecialtyDermatology
Reticulate acropigmentation of Kitamura consists of linear palmar pits and pigmented macules 1 to 4 mm in diameter on the volar and dorsal aspects of the hands and feet, usually inherited in an autosomal-dominant fashion.[2]:856[3... | Reticulate acropigmentation of Kitamura | c0406811 | 30,500 | wikipedia | https://en.wikipedia.org/wiki/Reticulate_acropigmentation_of_Kitamura | 2021-01-18T18:50:25 | {"mesh": ["C562924"], "umls": ["C0406811"], "orphanet": ["178307"], "wikidata": ["Q7316721"]} |
pregnancy-related tumours
Gestational trophoblastic disease
Micrograph of intermediate trophoblast, decidua and a hydatidiform mole (bottom of image). H&E stain.
SpecialtyOncology
Gestational trophoblastic disease (GTD) is a term used for a group of pregnancy-related tumours. These tumours are rare, and... | Gestational trophoblastic disease | c2931618 | 30,501 | wikipedia | https://en.wikipedia.org/wiki/Gestational_trophoblastic_disease | 2021-01-18T18:37:59 | {"gard": ["6498"], "mesh": ["D031901"], "umls": ["C2931618"], "orphanet": ["254685"], "wikidata": ["Q3433884"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-35 (MRD35) is caused by heterozygous mutation in the PPP2R5D gene (601646) on chromosome 6p21.
Clinical Features
The Deciphering Developmental Disorders Study (2015) identified 4 patients with intellectual d... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 | c4225354 | 30,502 | omim | https://www.omim.org/entry/616355 | 2019-09-22T15:49:10 | {"doid": ["0070065"], "omim": ["616355"], "orphanet": ["457279"], "synonyms": [], "genereviews": ["NBK536360"]} |
## Description
Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mort... | DIAPHRAGMATIC HERNIA, CONGENITAL | c0235833 | 30,503 | omim | https://www.omim.org/entry/142340 | 2019-09-22T16:40:26 | {"doid": ["3827"], "mesh": ["D065630"], "omim": ["142340"], "icd-10": ["Q79.0"], "orphanet": ["2140"], "synonyms": ["Alternative titles", "DIH", "HERNIA, CONGENITAL DIAPHRAGMATIC", "DIAPHRAGMATIC DEFECT, CONGENITAL", "DIAPHRAGM, UNILATERAL AGENESIS OF", "HEMIDIAPHRAGM, AGENESIS OF"], "genereviews": ["NBK1359"]} |
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy.... | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | c4310745 | 30,504 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488627 | 2021-01-23T17:10:07 | {"omim": ["617051"]} |
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 appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Panniculitis" – news · newspapers · books ... | Panniculitis | c0030326 | 30,505 | wikipedia | https://en.wikipedia.org/wiki/Panniculitis | 2021-01-18T18:28:52 | {"mesh": ["D015434"], "umls": ["C0030326"], "wikidata": ["Q780629"]} |
Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and seve... | Robinow syndrome | c0265205 | 30,506 | gard | https://rarediseases.info.nih.gov/diseases/312/robinow-syndrome | 2021-01-18T17:57:52 | {"mesh": ["C562492"], "omim": ["180700", "268310"], "umls": ["C0265205"], "orphanet": ["97360"], "synonyms": ["Robinow dwarfism", "Fetal face syndrome", "Acral dysostosis with facial and genital abnormalities", "Covesdem syndrome (formerly)", "Costovertebral segmentation defect with mesomelia (formerly)", "Mesomelic dw... |
Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.
## Epidemiology
The prevalence is unknown.
## Clinical description
Onset usually occurs during infancy or early childhood. The dystonic movements are characteris... | Sandifer syndrome | c0338465 | 30,507 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=71272 | 2021-01-23T17:34:11 | {"gard": ["9684"], "mesh": ["C537234"], "umls": ["C0338465"], "icd-10": ["G24.8"]} |
A number sign (#) is used with this entry because this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C3; MDDGC3), also known as LGMDR15 and LGMD2O, is caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1; 606822) on chromosome 1p34.
... | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 | c3150417 | 30,508 | omim | https://www.omim.org/entry/613157 | 2019-09-22T15:59:33 | {"doid": ["0110292"], "omim": ["613157"], "orphanet": ["206564"], "synonyms": ["MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O", "LGMD2O", "Alternative titles", "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED"]} |
## Description
Multinodular goiter is a common disorder characterized by nodular enlargement of the thyroid gland (summary by Takahashi et al., 2001).
For additional phenotypic information and a discussion of genetic heterogeneity of multinodular goiter, see MNG1 (138800).
Clinical Features
Takahashi et al. (200... | GOITER, MULTINODULAR 3 | c1853686 | 30,509 | omim | https://www.omim.org/entry/606082 | 2019-09-22T16:10:47 | {"mesh": ["C565260"], "omim": ["606082"]} |
Irritant folliculitis
SpecialtyDermatology
Irritant folliculitis is a cutaneous condition and usually occurs following the application of topical medications.[1]
## See also[edit]
* Irritant diaper dermatitis
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.... | Irritant folliculitis | None | 30,510 | wikipedia | https://en.wikipedia.org/wiki/Irritant_folliculitis | 2021-01-18T18:51:58 | {"wikidata": ["Q6073877"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux.... | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | c4539951 | 30,511 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=502434 | 2021-01-23T16:56:37 | {"omim": ["617635"]} |
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: "Smith–Fineman–Myers syndrome" – news · newspapers · books · scholar · JSTOR (August 2010) (Learn how and when to remove... | Smith–Fineman–Myers syndrome | c0796159 | 30,512 | wikipedia | https://en.wikipedia.org/wiki/Smith%E2%80%93Fineman%E2%80%93Myers_syndrome | 2021-01-18T19:05:46 | {"gard": ["81"], "mesh": ["C537445"], "umls": ["C0796159"], "orphanet": ["93974"], "wikidata": ["Q7545701"]} |
A number sign (#) is used with this entry because OKT4 epitope deficiency is caused by a polymorphism in the CD4 gene (186940).
Clinical Features
The OKT monoclonal antibodies are widely used for the analysis of human peripheral blood T lymphocytes. OKT3 reacts with virtually all peripheral T cells; OKT4 with T... | OKT4 EPITOPE DEFICIENCY | c3151379 | 30,513 | omim | https://www.omim.org/entry/613949 | 2019-09-22T15:57:00 | {"omim": ["613949"], "synonyms": ["Alternative titles", "T4 EPITOPE DEFICIENCY"]} |
Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood, and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in t... | Spastic diplegia cerebral palsy | c0270804 | 30,514 | gard | https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy | 2021-01-18T17:57:39 | {"mesh": ["C537945"], "synonyms": ["Cerebral palsy spastic diplegic"]} |
Achalasia microcephaly
Chest x-ray of an individual with achalasia. The arrows point to the areas of extreme esophageal dilation.
SymptomsManifestation of achalasia: regurgitation, vomiting and dysphagia, alongside diagnosis of microcephaly: abnormally small head size below the third percentile as well as mild to... | Achalasia microcephaly | c1860212 | 30,515 | wikipedia | https://en.wikipedia.org/wiki/Achalasia_microcephaly | 2021-01-18T18:54:45 | {"gard": ["456"], "mesh": ["C536010"], "umls": ["C1860212"], "orphanet": ["929"], "wikidata": ["Q18553480"]} |
A number sign (#) is used with this entry because of evidence that the corner fracture type of spondylometaphyseal dysplasia (SMDCF) is caused by heterozygous mutation in the fibronectin gene (FN1; 135600) on chromosome 2q35.
Description
The corner fracture type of spondylometaphyseal dysplasia is characterized... | SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE | c0432221 | 30,516 | omim | https://www.omim.org/entry/184255 | 2019-09-22T16:34:22 | {"mesh": ["C535793"], "omim": ["184255"], "orphanet": ["93315"], "synonyms": ["Alternative titles", "SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE TYPE"]} |
Aortopulmonary septal defect
SpecialtyCardiology
Aortopulmonary septal defect is a rare congenital heart disorder accounting for only 0.1-0.3% of congenital heart defects worldwide.[1] It is characterized by a communication between the aortic and pulmonary arteries, with preservation of two normal semilunar va... | Aortopulmonary septal defect | c0003516 | 30,517 | wikipedia | https://en.wikipedia.org/wiki/Aortopulmonary_septal_defect | 2021-01-18T18:38:13 | {"mesh": ["D001028"], "icd-9": ["745.1", "745.0"], "icd-10": ["Q21.4", "Q20.0", "Q20.3"], "wikidata": ["Q4778774"]} |
Cortical depression in the posterolateral head of the humerus
Hill–Sachs lesion
Other namesHill–Sachs fracture
Anterior shoulder dislocation on X-ray with a large Hill–Sachs lesion
SpecialtyOrthopedics
A Hill–Sachs lesion, or Hill–Sachs fracture, is a cortical depression in the posterolateral head of ... | Hill–Sachs lesion | None | 30,518 | wikipedia | https://en.wikipedia.org/wiki/Hill%E2%80%93Sachs_lesion | 2021-01-18T19:01:42 | {"icd-10": ["S42.21", "S43.0", "S42.291"], "wikidata": ["Q839219"]} |
A number sign (#) is used with this entry because of evidence that intellectual developmental disorder with cardiac arrhythmia (IDDCA) is caused by homozygous or compound heterozygous mutation in the GNB5 gene (604447) on chromosome 15q21.
Biallelic missense mutation in the GNB5 gene can cause language delay and att... | INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA | c4310682 | 30,519 | omim | https://www.omim.org/entry/617173 | 2019-09-22T15:46:38 | {"omim": ["617173"]} |
Prothrombin (or factor II) deficiency is a blood disorder that affects the ability of the blood to clot properly. Symptoms of the deficiency include prolonged bleeding, especially after an injury or after surgery. Women with prothrombin deficiency may have heavy menstrual bleeding. The severity of the disease can var... | Prothrombin deficiency | c0272317 | 30,520 | gard | https://rarediseases.info.nih.gov/diseases/2926/prothrombin-deficiency | 2021-01-18T17:58:07 | {"mesh": ["C562724"], "omim": ["613679"], "umls": ["C0272317"], "orphanet": ["325"], "synonyms": ["Hypoprothrombinemia, inherited", "Congenital factor II deficiency", "Dysprothrombinemia", "Inherited prothrombin deficiency", "Inherited hypoprothrombinemia", "Factor II deficiency"]} |
Chronic mucocutaneous candidiasis can have many causes, e.g., (1) failure of lymphocytes to transform in response to antigen, either because of an intrinsic defect (247450) or because of an inhibiting serum factor (247430); (2) failure of production of lymphokine; or (3) unresponsiveness of monocytes to lymphokine (2... | LYMPHOKINE DEFICIENCY | c0006845 | 30,521 | omim | https://www.omim.org/entry/247650 | 2019-09-22T16:25:45 | {"mesh": ["D002178"], "omim": ["247650"], "orphanet": ["1334"]} |
Adult polyglucosan body disease (APBD) is a condition that affects the nervous system. People with APBD typically first experience signs and symptoms related to the condition between ages 35 and 60. Initial symptoms of the disorder include numbness and tingling in the legs (peripheral neuropathy) and progressive musc... | Adult polyglucosan body disease | c1849722 | 30,522 | medlineplus | https://medlineplus.gov/genetics/condition/adult-polyglucosan-body-disease/ | 2021-01-27T08:24:40 | {"gard": ["108"], "mesh": ["C564878"], "omim": ["263570"], "synonyms": []} |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are d... | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | None | 30,523 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=306516 | 2021-01-23T18:42:36 | {"icd-10": ["E83.4"], "synonyms": ["FHHNC", "Michellis-Castrillo syndrome"]} |
A number sign (#) is used with this entry because congenital disorder of glycosylation type IIk (CDG2K) is caused by homozygous or compound heterozygous mutation in the TMEM165 gene (614726) on chromosome 4q12.
Description
CDG2K is an autosomal recessive disorder with a variable phenotype. Affected individuals show... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk | c3553571 | 30,524 | omim | https://www.omim.org/entry/614727 | 2019-09-22T15:54:22 | {"doid": ["0070263"], "omim": ["614727"], "orphanet": ["314667"], "synonyms": ["CDG syndrome type IIk", "CDG-IIk", "Congenital disorder of glycosylation type 2k", "Alternative titles", "CDG2K", "CDG IIk", "Carbohydrate deficient glycoprotein syndrome type IIk", "Congenital disorder of glycosylation type IIk"], "generev... |
Autosomal dominant inheritance was suggested by Billard et al. (1994) as the basis of some cases of developmental dysphasia. This disorder is characterized by a specific and severe delay in the development of spoken language. This results in impaired or completely absent language in a normal social environment withou... | DYSPHASIA, FAMILIAL DEVELOPMENTAL | c1838630 | 30,525 | omim | https://www.omim.org/entry/600117 | 2019-09-22T16:16:42 | {"mesh": ["C563997"], "omim": ["600117"], "orphanet": ["1799"]} |
Alternariosis
A 69-year-old female with alternariosis in her left forearm and electron micrograph of her skin showing sporangiophores of Lichtheimia corymbifera[citation needed]
SpecialtyDermatology, infectious disease
Alternariosis is an infection by Alternaria, presenting cutaneously as focal, ulcerated pa... | Alternariosis | c3178963 | 30,526 | wikipedia | https://en.wikipedia.org/wiki/Alternariosis | 2021-01-18T19:10:42 | {"mesh": ["D060487"], "wikidata": ["Q4736375"]} |
Presumed ocular histoplasmosis syndrome
Retinal photograph of ocular histoplasmosis
SpecialtyOphthalmology
Presumed ocular histoplasmosis syndrome (POHS) is a syndrome affecting the eye, which is characterized by peripheral atrophic chorioretinal scars, atrophy or scarring adjacent to the optic disc and ... | Presumed ocular histoplasmosis syndrome | c0153278 | 30,527 | wikipedia | https://en.wikipedia.org/wiki/Presumed_ocular_histoplasmosis_syndrome | 2021-01-18T18:49:39 | {"umls": ["C0153278"], "wikidata": ["Q7242093"]} |
A number sign (#) is used with this entry because of evidence that X-linked spondyloepimetaphyseal dysplasia (SEMDX) is caused by mutation in the BGN gene (301870) on chromosome Xq28.
Clinical Features
Camera et al. (1994) described what they suggested might represent a new form of spondyloepimetaphyseal dyspla... | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED | c1848097 | 30,528 | omim | https://www.omim.org/entry/300106 | 2019-09-22T16:20:52 | {"mesh": ["C564714"], "omim": ["300106"], "orphanet": ["93349"], "synonyms": ["Alternative titles", "SEMD, X-LINKED"]} |
"GEFS" redirects here. For the online flight simulator, see GEFS-Online.
"SMEB" redirects here. For the League of Legends player, see Smeb.
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article may be t... | Generalized epilepsy with febrile seizures plus | c1858672 | 30,529 | wikipedia | https://en.wikipedia.org/wiki/Generalized_epilepsy_with_febrile_seizures_plus | 2021-01-18T18:57:57 | {"mesh": ["C565809"], "umls": ["C1858672"], "orphanet": ["36387"], "wikidata": ["Q16909671"]} |
Superfetation occurs as a result of continuing ovulation and implantation after the initiation of another pregnancy. This rare phenomenon, leading to an unusual form of fraternal twinning, was reported as an autosomal dominant trait by Rhine and Nance (1976). The gene is transmitted by males as well as females, s... | TWINNING DUE TO SUPERFETATION | c1860645 | 30,530 | omim | https://www.omim.org/entry/191250 | 2019-09-22T16:32:14 | {"mesh": ["C566018"], "omim": ["191250"], "synonyms": ["Alternative titles", "SUPERFETATION TWINNING"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive nonsyndromic deafness-31 (DFNB31) is caused by homozygous mutation in the whirlin gene (WHRN; 607928) on chromosome 9q32.
Clinical Features
Mustapha et al. (2002) described a consanguineous Palestinian family from Jordan in which... | DEAFNESS, AUTOSOMAL RECESSIVE 31 | c1846839 | 30,531 | omim | https://www.omim.org/entry/607084 | 2019-09-22T16:09:43 | {"doid": ["0110490"], "mesh": ["C564629"], "omim": ["607084"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive non-syndromic neurosensory deafness type DFNB", "WHIRLER, MOUSE, HOMOLOG OF", "Alternative titles", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive isolated neuro... |
Immune suppression may be merely the 'other side of the coin' from immune response. Sasazuki et al. (1980) proposed linkage between HLA and a dominant gene at a locus Is (immune suppression), which suppresses in vitro lymphoproliferative response to streptococcal cell wall antigen. A lod score of +3.2 was observed in... | IMMUNE SUPPRESSION | c1840264 | 30,532 | omim | https://www.omim.org/entry/146850 | 2019-09-22T16:39:36 | {"omim": ["146850"], "synonyms": ["Alternative titles", "STREPTOCOCCAL CELL WALL ANTIGEN, SUPPRESSION OF IMMUNE RESPONSE TO", "ISCW"]} |
## Clinical Features
Progressive bifocal chorioretinal atrophy is a rare, autosomal dominant congenital chorioretinal dystrophy. The disorder is characterized by progressive macular and nasal retinal atrophic lesions, nystagmus, myopia, and poor vision (Douglas et al., 1968). Invariably, there are 2 distinct foci o... | CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL | c1833321 | 30,533 | omim | https://www.omim.org/entry/600790 | 2019-09-22T16:15:55 | {"mesh": ["C535356"], "omim": ["600790"], "orphanet": ["75373"], "synonyms": ["Alternative titles", "CRAPB", "PROGRESSIVE BIFOCAL CHORIORETINAL ATROPHY"]} |
For a phenotypic description and a discussion of genetic heterogeneity of bipolar disorder, see 125480.
Mapping
Jamra et al. (2007) presented the first genomewide interaction and locus heterogeneity linkage scan in bipolar affective disorder (BPAD), using a large linkage dataset (52 families of European descent; 44... | MAJOR AFFECTIVE DISORDER 6 | c1970945 | 30,534 | omim | https://www.omim.org/entry/611536 | 2019-09-22T16:03:09 | {"mesh": ["C567075"], "omim": ["611536"], "synonyms": ["Alternative titles", "BIPOLAR AFFECTIVE DISORDER"]} |
Hepatocellular adenoma (HA) is a rare benign tumor of the liver.
## Epidemiology
Annual incidence is estimated at one case per million.
## Clinical description
Mean age at diagnosis is 34 years (ranging from 15 to 64 years). HA rarely occurs in children. Most patients with HA are asymptomatic and lesions are foun... | Hepatocellular adenoma | c0206669 | 30,535 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54272 | 2021-01-23T18:08:54 | {"mesh": ["D018248"], "umls": ["C0206669"], "icd-10": ["D13.4"]} |
Inflammation of the membranes around the brain and spinal cord
Meningitis
Meninges of the central nervous system: dura mater, arachnoid mater, and pia mater.
SpecialtyInfectious disease, neurology
SymptomsFever, headache, neck stiffness[1]
ComplicationsDeafness, epilepsy, hydrocephalus, cognitive deficits[2]... | Meningitis | c0025289 | 30,536 | wikipedia | https://en.wikipedia.org/wiki/Meningitis | 2021-01-18T19:02:30 | {"mesh": ["D008581"], "umls": ["C0025289"], "wikidata": ["Q48143"]} |
A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits,... | Marshall-Smith syndrome | c0265211 | 30,537 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=561 | 2021-01-23T18:55:52 | {"gard": ["6985"], "mesh": ["C536026"], "omim": ["602535"], "umls": ["C0265211"], "icd-10": ["Q87.3"], "synonyms": ["Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome"]} |
A rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.
*[v]: View this template
*[... | Isolated partial vaginal agenesis | c1261251 | 30,538 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96269 | 2021-01-23T17:19:14 | {"mesh": ["C536523"], "icd-10": ["Q52.0"], "synonyms": ["Congenital absence of vagina"]} |
Crutchfield and Gutmann (1973) found that the accessory deep peroneal nerve, a branch of the superficial peroneal nerve, partially innervated the extensor digitorum brevis muscle of at least one foot in 22 of 100 healthy unrelated persons. Five families studied because of a member with anomalous innervation yielded r... | PERONEAL NERVE, ACCESSORY DEEP | c1868426 | 30,539 | omim | https://www.omim.org/entry/170980 | 2019-09-22T16:36:30 | {"mesh": ["C536001"], "omim": ["170980"]} |
Formication, a type of tactile hallucination, is the feeling of imaginary insects or spiders on the skin.
Tactile hallucination is the false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object.[1] It is caused by the faulty integration of the tactil... | Tactile hallucination | c0233767 | 30,540 | wikipedia | https://en.wikipedia.org/wiki/Tactile_hallucination | 2021-01-18T19:09:33 | {"mesh": ["D006212"], "umls": ["C0233767"], "wikidata": ["Q17162704"]} |
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be ... | Microphthalmia | c1855052 | 30,541 | medlineplus | https://medlineplus.gov/genetics/condition/microphthalmia/ | 2021-01-27T08:24:39 | {"gard": ["12085"], "mesh": ["C565377"], "omim": ["251600", "610093", "611038", "613094", "611040", "613517", "613704", "615113", "156850", "300345", "605738", "610092", "251505", "611638", "613703", "615145", "156900", "212550"], "synonyms": []} |
Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can be acquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire... | Ocular toxoplasmosis | c0040561 | 30,542 | gard | https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis | 2021-01-18T17:58:38 | {"mesh": ["D014126"], "umls": ["C0040561"], "synonyms": []} |
## Summary
### Clinical characteristics.
FREM1 autosomal recessive disorders include: Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT).
* MOTA syndrome is characterized by an a... | FREM1 Autosomal Recessive Disorders | None | 30,543 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1728/ | 2021-01-18T21:27:18 | {"synonyms": []} |
A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation.
*[v]: View this t... | Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | None | 30,544 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100049 | 2021-01-23T16:58:03 | {"synonyms": ["Primary ILD specific to childhood due to pulmonary surfactant protein anomalies"]} |
A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal.... | Fibrolamellar hepatocellular carcinoma | c0334287 | 30,545 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401920 | 2021-01-23T18:25:59 | {"mesh": ["C537258"], "umls": ["C0334287"], "icd-10": ["C22.0"], "synonyms": ["FHCC", "Fibrolamellar hepatocarcinoma"]} |
A number sign (#) is used with this entry because sideroblastic anemia-1 (SIDBA1) is caused by mutation in the gene encoding delta-aminolevulinate synthase-2 (ALAS2; 301300) on chromosome Xp11.
Description
The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic an... | ANEMIA, SIDEROBLASTIC, 1 | c4551511 | 30,546 | omim | https://www.omim.org/entry/300751 | 2019-09-22T16:19:44 | {"doid": ["0060063"], "mesh": ["C536761"], "omim": ["300751"], "icd-10": ["D64.0"], "orphanet": ["75563"], "synonyms": ["ANEMIA, SIDEROBLASTIC, X-LINKED", "Alternative titles", "XLSA", "ANEMIA, HYPOCHROMIC", "HEREDITARY IRON-LOADING ANEMIA", "ANEMIA, HEREDITARY SIDEROBLASTIC"]} |
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. ... | Cartilage-hair hypoplasia | c0220748 | 30,547 | gard | https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia | 2021-01-18T18:01:36 | {"mesh": ["C535916"], "omim": ["250250"], "orphanet": ["175"], "synonyms": ["Metaphyseal chondrodysplasia McKusick type", "CHH", "Cartilage hair hypoplasia like syndrome"]} |
A number sign (#) is used with this entry because early infantile epileptic encephalopathy-6 (EIEE6) is caused by heterozygous mutation in the SCN1A gene (182389) on chromosome 2q24. About 95% of the mutations are de novo (Claes et al., 2001; Vadlamudi et al., 2010).
Mutations in the SCN1A gene are also responsible ... | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6 | c0751122 | 30,548 | omim | https://www.omim.org/entry/607208 | 2019-09-22T16:09:32 | {"doid": ["0080422"], "mesh": ["D004831"], "omim": ["607208"], "orphanet": ["33069"], "synonyms": ["Alternative titles", "DRAVET SYNDROME", "SEVERE MYOCLONIC EPILEPSY OF INFANCY"], "genereviews": ["NBK1318"]} |
A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, sh... | Secondary non-traumatic avascular necrosis | None | 30,549 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=399180 | 2021-01-23T17:17:42 | {"icd-10": ["M87.1", "M87.3"], "synonyms": ["Secondary non-traumatic AVN", "Secondary non-traumatic osteonecrosis"]} |
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Find sources: "Juvenile myelomonocytic leukemia" – news · newspapers · books · scholar · JSTOR (June 2014) (Learn how and when to remo... | Juvenile myelomonocytic leukemia | c0023480 | 30,550 | wikipedia | https://en.wikipedia.org/wiki/Juvenile_myelomonocytic_leukemia | 2021-01-18T18:55:55 | {"gard": ["9884"], "mesh": ["D015477", "D054429"], "umls": ["C0023480"], "orphanet": ["86834"], "wikidata": ["Q2578247"]} |
Sclerosing lymphangitis
SpecialtyDermatology
Sclerosing lymphangitis, also known as lymphangiosclerosis or sclerotic lymphangitis,[1] is a skin condition characterized by a cordlike structure encircling the coronal sulcus of the penis, or running the length of the shaft, that has been attributed to trauma ... | Sclerosing lymphangitis | c0406626 | 30,551 | wikipedia | https://en.wikipedia.org/wiki/Sclerosing_lymphangitis | 2021-01-18T19:08:07 | {"umls": ["C0406626"], "wikidata": ["Q6708235"]} |
## Summary
### Clinical characteristics.
FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI).
* Fragile X syndrome occurs in individuals with an FMR1 full mutation or other loss-of-function varian... | FMR1 Disorders | None | 30,552 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1384/ | 2021-01-18T21:27:23 | {"synonyms": []} |
McGillivray syndrome
Other namesFamilial scaphocephaly syndrome, McGillivray type, Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
This condition is inherited via an autosomal dominant manner
SpecialtyCardiology
McGillivray syndrome is a rare syndrome characterized mainly by... | McGillivray syndrome | c1865070 | 30,553 | wikipedia | https://en.wikipedia.org/wiki/McGillivray_syndrome | 2021-01-18T18:38:58 | {"gard": ["3426"], "mesh": ["C566511"], "umls": ["C1865070"], "orphanet": ["168624"], "wikidata": ["Q16947790"]} |
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferativ... | 8p11 myeloproliferative syndrome | c3150773 | 30,554 | medlineplus | https://medlineplus.gov/genetics/condition/8p11-myeloproliferative-syndrome/ | 2021-01-27T08:25:13 | {"omim": ["613523"], "synonyms": []} |
Abortion in Brunei is legal only when it is done to save a woman's life. In Brunei, a woman who induces her abortion is subject to up to seven years in prison. The penalty for someone who performs an abortion was 10–15 years.[1][2]
In 2014, Brunei's government implemented Sharia criminal law to punish abortion with ... | Abortion in Brunei | None | 30,555 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Brunei | 2021-01-18T18:39:57 | {"wikidata": ["Q19568852"]} |
Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, o... | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | c1859690 | 30,556 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2848 | 2021-01-23T19:01:01 | {"gard": ["306"], "mesh": ["C537560"], "omim": ["208250"], "umls": ["C1859690"], "synonyms": ["Arthropathy-camptodactyly syndrome", "CACP syndrome", "Jacobs syndrome", "Pericarditis-arthropathy-camptodactyly syndrome"]} |
Majeed syndrome
SpecialtyDermatology
Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis.[1] It is classified as an autoinflammatory bone disorder. The condition is found in people with two ... | Majeed syndrome | c1864997 | 30,557 | wikipedia | https://en.wikipedia.org/wiki/Majeed_syndrome | 2021-01-18T18:38:15 | {"gard": ["10088"], "mesh": ["C537839"], "umls": ["C1864997"], "orphanet": ["77297"], "wikidata": ["Q6737634"]} |
Gonadal tissue neoplasm
SpecialtyOncology
A gonadal tissue neoplasm is a tumor having any histology characteristic of cells or tissues giving rise to the gonads. These tissues arise from the sex cord and stromal cells. The tumor may be derived from these tissues, or produce them.
Although the tumor is com... | Gonadal tissue neoplasm | c0206722 | 30,558 | wikipedia | https://en.wikipedia.org/wiki/Gonadal_tissue_neoplasm | 2021-01-18T18:47:00 | {"mesh": ["D018309"], "wikidata": ["Q5581314"]} |
Jaw claudication
Differential diagnosisgiant cell artiritis
Jaw claudication is pain in the jaw associated with chewing. It is a classic symptom of giant-cell arteritis,[1][2] but can be confused with symptoms of temporomandibular joint disease, rheumatoid arthritis of the temporomandibular joint, myasthen... | Jaw claudication | c0239064 | 30,559 | wikipedia | https://en.wikipedia.org/wiki/Jaw_claudication | 2021-01-18T18:41:37 | {"umls": ["C0239064", "C0549415"], "wikidata": ["Q19597620"]} |
Hürthle cell adenoma
SpecialtyOncology
Hürthle cell adenoma is a rare benign tumor, typically seen in women between the ages of 70 and 80 years old. This adenoma is characterized by a mass of benign Hürthle cells (Askanazy cells).[1] Typically such a mass is removed because it is not easy to predict whethe... | Hürthle cell adenoma | c1336750 | 30,560 | wikipedia | https://en.wikipedia.org/wiki/H%C3%BCrthle_cell_adenoma | 2021-01-18T18:56:24 | {"wikidata": ["Q16864144"]} |
GACI - Pronounced "GACK-EE"
Generalized arterial calcification of infancy
Other namesIdiopathic infantile arterial calcification (IIAC), arterial calcification of infancy, idiopathic arterial calcification of infancy (IACI), occlusive infantile arterial calcification, occlusive infantile arteriopathy[1]
Specialt... | Generalized arterial calcification of infancy | c1859727 | 30,561 | wikipedia | https://en.wikipedia.org/wiki/Generalized_arterial_calcification_of_infancy | 2021-01-18T18:57:25 | {"gard": ["8380"], "mesh": ["C537440"], "umls": ["C1859728", "C1859727"], "orphanet": ["51608"], "wikidata": ["Q9366868"]} |
Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.
## Epidemiology
Prevalence is unknown but approximately 30 families have been reported to d... | Epidermolysis bullosa simplex with mottled pigmentation | c0432316 | 30,562 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79397 | 2021-01-23T19:02:30 | {"gard": ["9737"], "mesh": ["C535959"], "omim": ["131960"], "umls": ["C0432316"], "icd-10": ["Q81.0"], "synonyms": ["EBS-MP"]} |
Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affe... | Camptodactyly of fingers | c1306668 | 30,563 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=295016 | 2021-01-23T18:56:31 | {"omim": ["114200"], "icd-10": ["Q68.1"]} |
A rare ophthalmic disorder characterized by generalized inflammation of all parts of the uveal tract (iris, ciliary body, and choroid), simultaneously involving adjacent vitreous and retina, without any predominant site of inflammation, due to viral, bacterial, fungal, or parasitic infections. Clinical symptoms inclu... | Infectious panuveitis | None | 30,564 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=279925 | 2021-01-23T17:46:10 | {"icd-10": ["H44.1"]} |
Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzy... | Tyrosinemia type 1 | c0268490 | 30,565 | gard | https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 | 2021-01-18T17:57:15 | {"mesh": ["D020176"], "omim": ["276700"], "orphanet": ["882"], "synonyms": ["Tyrosinemia type I", "Hepatorenal tyrosinemia", "Fumarylacetoacetase deficiency", "FAH deficiency"]} |
A notifiable disease is any disease that is required by law to be reported to government authorities. The collation of information allows the authorities to monitor the disease, and provides early warning of possible outbreaks. In the case of livestock diseases, there may also be the legal requirement to kill the inf... | Notifiable disease | None | 30,566 | wikipedia | https://en.wikipedia.org/wiki/Notifiable_disease | 2021-01-18T18:49:03 | {"wikidata": ["Q314676"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to IgA nephropathy-3 (IGAN3) is caused by heterozygous mutation in the SPRY2 gene (602466) on chromosome 13q31. One such family has been reported.
For a phenotypic description and a discussion of genetic heterogeneity of IgA nephro... | IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 | c4225194 | 30,567 | omim | https://www.omim.org/entry/616818 | 2019-09-22T15:47:49 | {"omim": ["616818"]} |
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.
Children with desmosterolosis have delayed speech and motor skills (such as sitting and walking). Later in childhood, some affected indivi... | Desmosterolosis | c1865596 | 30,568 | medlineplus | https://medlineplus.gov/genetics/condition/desmosterolosis/ | 2021-01-27T08:25:28 | {"gard": ["10283"], "mesh": ["C566555"], "omim": ["602398"], "synonyms": []} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (January 2021)
Pneumothorax ex vacuo
SpecialtyPulmonology
Pneumothorax ex vacuo is a rare type of pneumothorax which forms adjacent to an atelectat... | Pneumothorax ex vacuo | c1960446 | 30,569 | wikipedia | https://en.wikipedia.org/wiki/Pneumothorax_ex_vacuo | 2021-01-18T19:03:23 | {"umls": ["C1960446"], "wikidata": ["Q7206014"]} |
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (February 2017)
Embryocardia
SpecialtyNeonatology
Embryocardia is a condition in which S1 and S2 (the two heart sounds that produce the typical "lu... | Embryocardia | c0232199 | 30,570 | wikipedia | https://en.wikipedia.org/wiki/Embryocardia | 2021-01-18T19:04:02 | {"umls": ["C0232199"], "wikidata": ["Q16920320"]} |
Nematode infection
Deaths due to intestinal nematode infections per million persons in 2012
0-0
1-1
2-2
SpecialtyInfectious disease, helminthology
A nematode infection is a type of helminthiasis caused by organisms in the nematode phylum.[1]
An example is enterobiasis. Several antinematodal agents... | Nematode infection | c0027583 | 30,571 | wikipedia | https://en.wikipedia.org/wiki/Nematode_infection | 2021-01-18T19:06:54 | {"mesh": ["D009349"], "icd-9": ["124", "127"], "icd-10": ["B80", "B72"], "wikidata": ["Q2072680"]} |
Urushiol-induced contact dermatitis
SpecialtyDermatology
Urushiol-induced contact dermatitis (also called Toxicodendron dermatitis or Rhus dermatitis) is a type of allergic contact dermatitis caused by the oil urushiol found in various plants, most notably species of the genus Toxicodendron: poison ivy, po... | Urushiol-induced contact dermatitis | c0032342 | 30,572 | wikipedia | https://en.wikipedia.org/wiki/Urushiol-induced_contact_dermatitis | 2021-01-18T18:52:48 | {"mesh": ["D011040"], "umls": ["C0032342"], "icd-9": ["692.6"], "icd-10": ["L23.7"], "wikidata": ["Q7901561"]} |
A number sign (#) is used with this entry because infantile parkinsonism-dystonia-1 (PKDYS1) is caused by homozygous or compound heterozygous mutation in the SLC6A3 gene (126455), which encodes a dopamine transporter (DAT1), on chromosome 5p15.
Description
Infantile parkinsonism-dystonia, also known as dopamine... | PARKINSONISM-DYSTONIA, INFANTILE, 1 | c2751067 | 30,573 | omim | https://www.omim.org/entry/613135 | 2019-09-22T15:59:34 | {"mesh": ["C567730"], "omim": ["613135"], "orphanet": ["238455"], "synonyms": ["Alternative titles", "PKDYS", "DOPAMINE TRANSPORTER DEFICIENCY SYNDROME"], "genereviews": ["NBK442323"]} |
A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c... | Lissencephaly with cerebellar hypoplasia type B | c4274993 | 30,574 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100012 | 2021-01-23T17:36:52 | {"icd-10": ["Q04.3"]} |
Familial HDL deficiency is a rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood. HDL helps remove excess cholesterol and fats from your blood. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. This condition is ca... | Familial HDL deficiency | c0342898 | 30,575 | gard | https://rarediseases.info.nih.gov/diseases/2872/familial-hdl-deficiency | 2021-01-18T18:00:34 | {"omim": ["604091"], "orphanet": ["425"], "synonyms": ["Hypoalphalipoproteinemia, familial", "FHA", "High density lipoprotein deficiency", "HDLD", "Hypoalphalipoproteinemia, primary", "FHD"]} |
A number sign (#) is used with this entry because of evidence that Axenfeld-Rieger syndrome type 1 (RIEG1) is caused by heterozygous mutation in the homeobox transcription factor gene PITX2 (601542) on chromosome 4q25.
Description
Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that resu... | AXENFELD-RIEGER SYNDROME, TYPE 1 | c0265341 | 30,576 | omim | https://www.omim.org/entry/180500 | 2019-09-22T16:35:09 | {"doid": ["0110120"], "mesh": ["C535679"], "omim": ["180500"], "orphanet": ["782"], "synonyms": ["Alternative titles", "RIEGER SYNDROME, TYPE 1", "RIEG", "RGS"]} |
A rare genetic neurological disorder characterized by infantile hypotonia, congenital ophthalmic anomalies (including strabismus, esotropia, nystagmus, and central visual impairment), global developmental delay and intellectual disability, behavioral abnormalities, and movement disorder (such as dystonia, chorea, hyp... | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | None | 30,577 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=522077 | 2021-01-23T17:54:06 | {"omim": ["618218"], "synonyms": ["SYT1-related neurodevelopmental disorder"]} |
A number sign (#) is used with this entry because hyperbiliverdinemia (HBLVD) can be caused by heterozygous or homozygous mutation in the gene encoding bilirubin reductase-alpha (BLVRA; 109750) on chromosome 7p13.
Description
Hyperbiliverdinemia can manifest as green jaundice, which is a green discoloration of the ... | HYPERBILIVERDINEMIA | c3279964 | 30,578 | omim | https://www.omim.org/entry/614156 | 2019-09-22T15:56:20 | {"omim": ["614156"], "orphanet": ["276405"], "synonyms": ["GREEN JAUNDICE", "Alternative titles", "Green jaundice"]} |
Autoimmune enteropathy
SpecialtyImmunology
Autoimmune enteropathy (AIE) is a rare disorder of the immune system condition that affects infants, young children and (rarely) adults causing severe diarrhea, vomiting, and other morbidities of the digestive tract. AIE causes malabsorption of food, vitamins, and min... | Autoimmune enteropathy | c0341305 | 30,579 | wikipedia | https://en.wikipedia.org/wiki/Autoimmune_enteropathy | 2021-01-18T18:40:36 | {"gard": ["8689"], "mesh": ["C538273"], "umls": ["C0341305"], "orphanet": ["94075"], "wikidata": ["Q17130915"]} |
Henoch-Schonlein purpura (HSP), also called immunoglobulin A vasculitis (IgAV), is a vascular disease that primarily affects small blood vessels. The disease is characterized by abnormal deposits of immunoglobulin A (an antibody) in the blood vessels, leading to their inflammation (vasculitis). The small vessels ... | Henoch-Schonlein purpura | c0034152 | 30,580 | gard | https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura | 2021-01-18T18:00:06 | {"mesh": ["D011695"], "orphanet": ["761"], "synonyms": ["Purpura, Schonlein-Henoch", "Anaphylactoid purpura", "Vascular purpura", "Henoch Schonlein purpura", "Immunoglobulin A vasculitis", "Immunoglobulin-A vasculitis"]} |
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type IIn (CDG2N) is caused by homozygous or compound heterozygous mutation in the SLC39A8 gene (608732) on chromosome 4q24.
Description
Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recess... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | c4225234 | 30,581 | omim | https://www.omim.org/entry/616721 | 2019-09-22T15:48:06 | {"doid": ["0070266"], "omim": ["616721"], "orphanet": ["468699"], "synonyms": ["CDG-IIn", "Congenital disorder of glycosylation type IIn", "Carbohydrate deficient glycoprotein syndrome type IIn", "CDG2N", "CDG IIn", "Alternative titles", "CDG syndrome type IIn", "SLC39A8 deficiency", "Congenital disorder of glycosylati... |
Germinoma
Micrograph of a germinoma, H&E stain
SpecialtyOncology
A germinoma is a type of germ-cell tumor,[1] which is not differentiated upon examination.[2] It may be benign or malignant.
## Contents
* 1 Cause
* 2 Histology
* 3 Diagnosis
* 3.1 Classification
* 3.2 Locations
* 3.2.1 Ov... | Germinoma | c0206660 | 30,582 | wikipedia | https://en.wikipedia.org/wiki/Germinoma | 2021-01-18T18:54:14 | {"mesh": ["D018237"], "umls": ["C0206660"], "orphanet": ["182127"], "wikidata": ["Q950838"]} |
It has been suggested that this article be split into articles titled Asymptomatic hyperleukocytosis and symptomatic hyperleukocytosis. (Discuss) (September 2020)
Leukostasis (also called symptomatic hyperleukocytosis) is a medical emergency most commonly seen in patients with acute myeloid leukemia. It is c... | Leukostasis | c0282548 | 30,583 | wikipedia | https://en.wikipedia.org/wiki/Leukostasis | 2021-01-18T19:03:05 | {"mesh": ["D018921"], "umls": ["C0282548"], "wikidata": ["Q3237103"]} |
A number sign (#) is used with this entry because of evidence that familial hyperinsulinemic hypoglycemia-5 (HHF5) is caused by heterozygous mutation in the insulin receptor gene (INSR; 147670) on chromosome 19p13.
For a phenotypic description and a discussion of genetic heterogeneity of familial hyperinsulinemi... | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 | c1864952 | 30,584 | omim | https://www.omim.org/entry/609968 | 2019-09-22T16:05:20 | {"doid": ["0070220"], "mesh": ["C566494"], "omim": ["609968"], "orphanet": ["263458"], "synonyms": ["Hyperinsulinemic hypoglycemia due to INSR deficiency", "Hyperinsulinemic hypoglycemia due to insulin receptor deficiency"]} |
## Mapping
In a consanguineous Iranian family in which several members had an autosomal recessive form of prelingual profound sensorineural hearing loss, Delmaghani et al. (2003) found linkage of the disorder to a locus, designated DFNB40, on chromosome 22q11.21-q12.1. The approximately 9-Mb interval was bordered b... | DEAFNESS, AUTOSOMAL RECESSIVE 40 | c1842345 | 30,585 | omim | https://www.omim.org/entry/608264 | 2019-09-22T16:08:04 | {"doid": ["0110499"], "mesh": ["C564266"], "omim": ["608264"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]} |
Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to the failure of an arm or leg to develop before birth.) This syndrome can also cause severe malformations of other parts of the body, including the face and head, ... | Tetra-amelia syndrome | c4012268 | 30,586 | medlineplus | https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/ | 2021-01-27T08:24:38 | {"gard": ["5148"], "omim": ["273395"], "synonyms": []} |
Snyder-Robinson syndrome is a condition characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It occurs exclusively in males.
Males with Snyder-Robinson syndrome have delayed development and intellectual disability beginning in early childhood. The intellectual... | Snyder-Robinson syndrome | c0796160 | 30,587 | medlineplus | https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome/ | 2021-01-27T08:24:43 | {"gard": ["5615"], "mesh": ["C536678"], "omim": ["309583"], "synonyms": []} |
Hepato-biliary diseases include liver diseases and biliary diseases. Their study is known as hepatology.
## Contents
* 1 Liver diseases
* 1.1 Viral hepatitis
* 1.2 Other infectious diseases
* 1.3 Other inflammatory diseases
* 1.4 Alcohol
* 1.5 Toxins
* 1.6 Tumours
* 1.7 End-stage liver... | List of hepato-biliary diseases | c0267792 | 30,588 | wikipedia | https://en.wikipedia.org/wiki/List_of_hepato-biliary_diseases | 2021-01-18T18:50:36 | {"umls": ["C0267792"], "wikidata": ["Q2755530"]} |
Scanning electron micrograph of Mycobacterium tuberculosis
Tuberculosis is a serious public health problem in China.[1] China has the world's third largest cases of tuberculosis (after India and Indonesia), but progress in tuberculosis control was slow during the 1990s. Detection of tuberculosis had stagnated at... | Tuberculosis in China | None | 30,589 | wikipedia | https://en.wikipedia.org/wiki/Tuberculosis_in_China | 2021-01-18T18:55:23 | {"wikidata": ["Q3541799"]} |
Avian Botulism is a strain of botulism that affects wild and captive bird populations, most notably waterfowl. This is a paralytic disease brought on by the Botulinum neurotoxin (BoNt) of the bacterium Clostridium botulinum.[1] C. botulinum can fall into one of 7 different types which are strains A through G.[2] ... | Avian botulism | None | 30,590 | wikipedia | https://en.wikipedia.org/wiki/Avian_botulism | 2021-01-18T18:38:30 | {"wikidata": ["Q11236092"]} |
Fungal growth that develops on wet materials
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages)
This article needs additional citations for verification. Please help improve this article by adding citations to rel... | Indoor mold | None | 30,591 | wikipedia | https://en.wikipedia.org/wiki/Indoor_mold | 2021-01-18T18:45:30 | {"wikidata": ["Q6895739"]} |
Minkoff et al. (1980) described a case of congenital intrinsic deficiency of the platelet membrane phospholipid, platelet factor-3, which plays an important role in acceleration of coagulation. The proband, a 28-year-old woman, had had lifelong excessive bleeding, without a family history of same.
Inheritance... | PLATELET FACTOR 3 DEFICIENCY | c1868256 | 30,592 | omim | https://www.omim.org/entry/173450 | 2019-09-22T16:36:09 | {"mesh": ["C566798"], "omim": ["173450"]} |
## Summary
### Clinical characteristics.
Usher syndrome type II (USH2) is characterized by the following:
* Congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies
* Intact or variable vestibular responses
* Retinitis... | Usher Syndrome Type II | None | 30,593 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1341/ | 2021-01-18T20:51:04 | {"synonyms": ["USH2"]} |
A number sign (#) is used with this entry because of evidence that auriculocondylar syndrome-1 (ARCND1) is caused by heterozygous mutation in the GNAI3 gene (139370) on chromosome 1p13.
Description
Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is c... | AURICULOCONDYLAR SYNDROME 1 | c1865295 | 30,594 | omim | https://www.omim.org/entry/602483 | 2019-09-22T16:13:40 | {"mesh": ["C538270"], "omim": ["602483"], "orphanet": ["137888"], "synonyms": ["Alternative titles", "QUESTION MARK EARS SYNDROME"]} |
Malignant acrospiroma
Other namesHidradenocarcinoma, and Spiradenocarcinoma[1]
SpecialtyOncology
A malignant acrospiroma is a sweat gland carcinoma of the hand, which may recur locally in 50% of patients after excision, with distant metastases occurring in 60% of patients.[2]
## See also[edit]
* Acrospir... | Malignant acrospiroma | c1260964 | 30,595 | wikipedia | https://en.wikipedia.org/wiki/Malignant_acrospiroma | 2021-01-18T18:48:06 | {"umls": ["C1260964"], "wikidata": ["Q6743502"]} |
Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounde... | Ichthyosis with confetti | c3665704 | 30,596 | medlineplus | https://medlineplus.gov/genetics/condition/ichthyosis-with-confetti/ | 2021-01-27T08:25:31 | {"omim": ["609165"], "synonyms": []} |
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyl... | Orofaciodigital syndrome type 9 | c0796102 | 30,597 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141007 | 2021-01-23T18:17:24 | {"gard": ["10520"], "mesh": ["C557818"], "omim": ["258865"], "umls": ["C0796102"], "icd-10": ["Q87.0"], "synonyms": ["OFD9", "Oral-facial-digital syndrome type 9", "Oral-facial-digital syndrome with retinal abnormalities", "Orofaciodigital syndrome with retinal abnormalities"]} |
A number sign (#) is used with this entry because of evidence that MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity) is caused by hemizygous mutation in the EIF2S3 gene (300161) on chromosome Xp22.
Clinical Features
Steinmuller et al. (1998) describe... | MEHMO SYNDROME | c1846278 | 30,598 | omim | https://www.omim.org/entry/300148 | 2019-09-22T16:20:48 | {"doid": ["0060801"], "mesh": ["C537451"], "omim": ["300148"], "orphanet": ["85282"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY", "MENTAL RETARDATION, X-LINKED, SYNDROMIC 20", "MENTAL RETARDATION, X-LINKED, SYNDROMIC 25", "MENT... |
Viliuisk encephalomyelitis
SpecialtyNeurological
Viliuisk Encephalomyelitis (VE) is a fatal progressive neurological disorder found only in the Sakha (Iakut/Yakut) population of central Siberia.[1][2] About 15 new cases are reported each year. VE is a very rare disease and little research has been conducted. T... | Viliuisk encephalomyelitis | None | 30,599 | wikipedia | https://en.wikipedia.org/wiki/Viliuisk_encephalomyelitis | 2021-01-18T18:36:19 | {"wikidata": ["Q7930230"]} |
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