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Prion pruritus is the intense itching during the prodromal period of the Creutzfeldt–Jakob disease.[1]:402
## See also[edit]
* Pruritus
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
This cutaneous condition ar... | Prion pruritus | None | 5,300 | wikipedia | https://en.wikipedia.org/wiki/Prion_pruritus | 2021-01-18T18:57:42 | {"wikidata": ["Q7245359"]} |
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, w... | Charcot-Marie-Tooth disease type 1E | c1861669 | 5,301 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90658 | 2021-01-23T18:12:42 | {"gard": ["9190"], "mesh": ["C538078", "C537986"], "omim": ["118300"], "umls": ["C1861669", "C2931686", "C3495591"], "icd-10": ["G60.0"], "synonyms": ["CMT1E", "Charcot-Marie-Tooth disease-deafness syndrome", "Charcot-Marie-Tooth disease-hearing loss syndrome"]} |
A number sign (#) is used with this entry because Bjornstad syndrome (BJS) is caused by homozygous or compound heterozygous mutation in the BCS1L gene (603647) on chromosome 2q35.
Description
Bjornstad syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearin... | BJORNSTAD SYNDROME | c0266006 | 5,302 | omim | https://www.omim.org/entry/262000 | 2019-09-22T16:23:32 | {"doid": ["0050677"], "mesh": ["C537633"], "omim": ["262000"], "orphanet": ["123"], "synonyms": ["Alternative titles", "PILI TORTI AND NERVE DEAFNESS", "PTD"]} |
Dermatitis herpetiformis (DH) and celiac disease (CD; 212750) are gluten-sensitive diseases. In classic CD the small intestine is predominantly affected, whereas in DH the skin is also affected, showing typical rash and IgA deposits.
Reunala (1996) reported on the familial incidence of DH in a prospective study star... | DERMATITIS HERPETIFORMIS, FAMILIAL | c0011608 | 5,303 | omim | https://www.omim.org/entry/601230 | 2019-09-22T16:15:11 | {"mesh": ["D003874"], "omim": ["601230"], "orphanet": ["1656"], "synonyms": ["Alternative titles", "DH"]} |
## Description
Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision (Moross et al., 1984).
The preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'
Mapping
By genetic linkage analysis with microsatellite mar... | CATARACT 24 | c1855179 | 5,304 | omim | https://www.omim.org/entry/601202 | 2019-09-22T16:15:14 | {"doid": ["0110257"], "mesh": ["C538282"], "omim": ["601202"], "icd-10": ["Q12.0"], "orphanet": ["98992", "91492", "98988"], "synonyms": ["CATARACT 24, ANTERIOR POLAR", "Alternative titles", "CATARACT, ANTERIOR POLAR, 2"]} |
A number sign (#) is used with this entry because epidermolytic palmoplantar keratoderma is caused by heterozygous mutation in the keratin-9 gene (KRT9; 607606) on chromosome 17q12. A mild form of epidermolytic palmoplantar keratoderma is caused by mutation in the keratin-1 gene (KRT1; 139350) on chromosome 12q.
Des... | PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC | c0343110 | 5,305 | omim | https://www.omim.org/entry/144200 | 2019-09-22T16:39:57 | {"doid": ["0080223"], "omim": ["144200"], "orphanet": ["2199"], "synonyms": ["Alternative titles", "PPKE", "KERATODERMA, EPIDERMOLYTIC PALMOPLANTAR", "PALMOPLANTAR KERATODERMA, VORNER TYPE", "HYPERKERATOSIS, LOCALIZED EPIDERMOLYTIC", "KERATOSIS PALMARIS ET PLANTARIS FAMILIARIS", "TYLOSIS", "KERATOSIS OF GREITHER"]} |
Tumid lupus erythematosus
Other names"Lupus erythematosus tumidus"[1]
Tumid lupus erythematosus is a rare, but distinctive entity in which patients present with edematous erythematous plaques, usually on the trunk.[2]
Lupus erythematosus tumidus (LET) was reported by Henri Gougerot and Burnier R. in 1930. It ... | Tumid lupus erythematosus | c0406636 | 5,306 | wikipedia | https://en.wikipedia.org/wiki/Tumid_lupus_erythematosus | 2021-01-18T19:10:43 | {"gard": ["13003"], "umls": ["C0406636"], "orphanet": ["90283"], "wikidata": ["Q3267714"]} |
Aggressive digital papillary adenocarcinoma
Other namesDigital papillary adenocarcinoma[1] and Papillary adenoma[2]
SpecialtyDermatology/oncology
Aggressive digital papillary adenocarcinoma is a cutaneous condition characterized by an aggressive malignancy involving the digit between the nailbed and the ... | Aggressive digital papillary adenocarcinoma | None | 5,307 | wikipedia | https://en.wikipedia.org/wiki/Aggressive_digital_papillary_adenocarcinoma | 2021-01-18T18:39:14 | {"umls": ["CL053818"], "wikidata": ["Q4692274"]} |
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (May 2014) (Learn how and when to remove this template message)
Gastrointestinal intraepithelial neoplasia (GIN or GIIN), also known as... | Gastrointestinal intraepithelial neoplasia | c0920207 | 5,308 | wikipedia | https://en.wikipedia.org/wiki/Gastrointestinal_intraepithelial_neoplasia | 2021-01-18T18:55:58 | {"umls": ["C0920207"], "wikidata": ["Q18343530"]} |
Swimmer's itch
Cercarial dermatitis on lower legs, four days after spending a day in the shallows of a lake
SpecialtyInfectious disease
Swimmer's itch or cercarial dermatitis, is a short-term allergic immune reaction occurring in the skin of humans that have been infected by water-borne schistosomes. Sym... | Swimmer's itch | c0546996 | 5,309 | wikipedia | https://en.wikipedia.org/wiki/Swimmer%27s_itch | 2021-01-18T18:52:58 | {"gard": ["9747"], "umls": ["C0546996"], "wikidata": ["Q191672"]} |
Nodular regenerative hyperplasia
Other namesNodular regenerative hyperplasia of the liver
Human liver(normal)
ComplicationsPortal hypertension
Nodular regenerative hyperplasia is a form of liver hyperplasia associated with portal hypertension.
Nodular regenerative hyperplasia (NRH) is a rare liver con... | Nodular regenerative hyperplasia | c4048264 | 5,310 | wikipedia | https://en.wikipedia.org/wiki/Nodular_regenerative_hyperplasia | 2021-01-18T19:04:25 | {"gard": ["10929"], "orphanet": ["48372"], "synonyms": ["Non-cirrhotic nodulation"], "wikidata": ["Q3144188"]} |
Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; bu... | Marshall syndrome | c0265235 | 5,311 | gard | https://rarediseases.info.nih.gov/diseases/6984/marshall-syndrome | 2021-01-18T17:59:14 | {"mesh": ["C536025"], "omim": ["154780"], "umls": ["C0265235"], "orphanet": ["560"], "synonyms": ["Deafness, myopia, cataract, saddle nose-Marshall type"]} |
Occipital pachygyria and polymicrogyria is a rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usu... | Occipital pachygyria and polymicrogyria | c3279875 | 5,312 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280640 | 2021-01-23T18:27:45 | {"omim": ["614115"], "icd-10": ["Q04.3"], "synonyms": ["Occipital MCD", "Occipital malformations of cortical development"]} |
Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eye... | Waardenburg syndrome | c3266898 | 5,313 | gard | https://rarediseases.info.nih.gov/diseases/5525/waardenburg-syndrome | 2021-01-18T17:57:10 | {"mesh": ["D014849"], "omim": ["193500"], "orphanet": ["3440"], "synonyms": ["Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome", "Mende Syndrome"]} |
## Summary
### Clinical characteristics.
SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. Affected infants commonly manifest ... | SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria | None | 5,314 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK425223/ | 2021-01-18T20:57:34 | {"synonyms": ["SUCLG1 Deficiency", "SUCLG1-Related Succinyl-CoA Ligase Deficiency"]} |
A number sign (#) is used with this entry because preaxial polydactyly II, triphalangeal thumb-polysyndactyly syndrome, and isolated triphalangeal thumb are all caused by heterozygous mutation in an SHH (600725) regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene (605522) on chromosome 7q36.
Clinical... | POLYDACTYLY, PREAXIAL II | c1868114 | 5,315 | omim | https://www.omim.org/entry/174500 | 2019-09-22T16:36:07 | {"doid": ["1148"], "mesh": ["C536311", "C536563"], "omim": ["174500"], "icd-10": ["Q74.0"], "orphanet": ["2950", "93336"], "synonyms": ["TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME", "POLYDACTYLY OF TRIPHALANGEAL THUMB", "Alternative titles", "TPT-PS syndrome"]} |
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: "Nonossifying fibroma" – news · newspapers ... | Nonossifying fibroma | c0334067 | 5,316 | wikipedia | https://en.wikipedia.org/wiki/Nonossifying_fibroma | 2021-01-18T18:48:29 | {"icd-9": ["733.99"], "icd-10": ["M89.8"], "wikidata": ["Q1985123"]} |
Linear and whorled nevoid hypermelanosis
Other namesLinear nevoid hyperpigmentation
SpecialtyMedical genetics
Linear and whorled nevoid hypermelanosis (also known as "Linear nevoid hyperpigmentation," "Progressive cribriform and zosteriform hyperpigmentation," "Reticulate and zosteriform hyperpigmentatio... | Linear and whorled nevoid hypermelanosis | c1304501 | 5,317 | wikipedia | https://en.wikipedia.org/wiki/Linear_and_whorled_nevoid_hypermelanosis | 2021-01-18T18:56:09 | {"gard": ["11004"], "umls": ["C1304501"], "icd-10": ["L81.4"], "orphanet": ["79150"], "wikidata": ["Q13643669"]} |
Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right... | Polydactyly of a biphalangeal thumb | c1395852 | 5,318 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93339 | 2021-01-23T17:04:49 | {"gard": ["4417"], "mesh": ["C536332"], "omim": ["174400"], "umls": ["C1395852"], "icd-10": ["Q69.1"], "synonyms": ["PPD1", "Preaxial polydactyly type 1"]} |
A number sign (#) is used with this entry because congenital generalized lipodystrophy type 4 (CGL4) is caused by homozygous or compound heterozygous mutation in the PTRF gene (603198) on chromosome 17q21.
Description
Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip li... | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 | c0221032 | 5,319 | omim | https://www.omim.org/entry/613327 | 2019-09-22T15:59:03 | {"doid": ["0111138"], "mesh": ["D052497"], "omim": ["613327"], "orphanet": ["528", "228429"], "synonyms": ["Alternative titles", "BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULAR DYSTROPHY", "LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 4, WITH MUSCULAR DYSTROPHY"]} |
A very rare syndrome characterized by extreme microcephaly and early death, within the first year.
## Epidemiology
It has been described only in the Old Order Amish of Lancaster County Pennsylvania. In this population, birth prevalence is about 1/500.
## Clinical description
Microcephaly is a microcephalia vera (... | Amish lethal microcephaly | c1846648 | 5,320 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99742 | 2021-01-23T17:43:15 | {"gard": ["8606"], "mesh": ["C538247"], "omim": ["607196"], "umls": ["C1846648"], "icd-10": ["Q02"]} |
Pseudallescheriasis is a fungal infection caused by Pseudallescheria species, such as Pseudallescheria boydii.[1]
## See also[edit]
* Scedosporiosis
## References[edit]
1. ^ Pseudallescheria / Scedosporium: emerging therapy-refractory opportunists in humans
This infectious disease article is a stub. You ... | Pseudallescheriasis | None | 5,321 | wikipedia | https://en.wikipedia.org/wiki/Pseudallescheriasis | 2021-01-18T18:47:12 | {"wikidata": ["Q25100293"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to obesity is conferred by homozygous variation in the ADCY3 gene (600291) on chromosome 2p23.
For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see 606641.
Description
Patients with... | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | c4693522 | 5,322 | omim | https://www.omim.org/entry/617885 | 2019-09-22T15:44:29 | {"omim": ["617885"], "synonyms": ["Alternative titles", "OBESITY, SUSCEPTIBILITY TO"]} |
A number sign (#) is used with this entry because of evidence that cranioectodermal dysplasia-2 (CED2) is caused by compound heterozygous mutation in the WDR35 gene (613602) on chromosome 2p24.
Description
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heteroge... | CRANIOECTODERMAL DYSPLASIA 2 | c0432235 | 5,323 | omim | https://www.omim.org/entry/613610 | 2019-09-22T15:58:07 | {"doid": ["0050577"], "mesh": ["C562966"], "omim": ["613610"], "orphanet": ["1515"], "genereviews": ["NBK154653"]} |
A number sign (#) is used with this entry because of evidence that Webb-Dattani syndrome (WEDAS) is caused by homozygous mutation in the ARNT2 gene (606036) on chromosome 15q25. One such family has been reported.
Description
Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hy... | WEBB-DATTANI SYNDROME | c4014708 | 5,324 | omim | https://www.omim.org/entry/615926 | 2019-09-22T15:50:32 | {"omim": ["615926"], "orphanet": ["370006"], "synonyms": ["Alternative titles", "HYPOTHALAMO-PITUITARY-FRONTOTEMPORAL HYPOPLASIA WITH VISUAL AND RENAL ANOMALIES"]} |
Dissociative disorder
For the New York City-based publisher, see Fugue State Press.
Fugue state
Other namesFugue state, psychogenic fugue
SpecialtyPsychiatry
Dissociative fugue, formerly fugue state or psychogenic fugue, is a dissociative disorder[1] and a rare psychiatric disorder characterized by reversi... | Fugue state | c0860635 | 5,325 | wikipedia | https://en.wikipedia.org/wiki/Fugue_state | 2021-01-18T18:38:56 | {"icd-9": ["300.13"], "icd-10": ["F44.1"], "wikidata": ["Q951639"]} |
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be furth... | Short/branched chain acyl-CoA dehydrogenase deficiency | c1864912 | 5,326 | medlineplus | https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency/ | 2021-01-27T08:25:40 | {"gard": ["10322"], "mesh": ["C566487"], "omim": ["610006"], "synonyms": []} |
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.
## Epidemiology
It has been reported in two unrelated patients.
## Clinical description
There is no remarkable facial dysmorphism. The clinical picture is opposite to... | 5q35 microduplication syndrome | c4304526 | 5,327 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228415 | 2021-01-23T19:08:03 | {"icd-10": ["Q92.3"], "synonyms": ["Dup(5)(q35)", "Trisomy 5q35"]} |
Diffuse esophageal spasm
Other namesDistal esophageal spasm
SpecialtyGastroenterology
Frequency1 per 100,000 people per year[1]
Diffuse esophageal spasm (DES), also known as distal esophageal spasm, is a condition characterized by uncoordinated contractions of the esophagus, which may cause difficulty swal... | Diffuse esophageal spasm | c0014863 | 5,328 | wikipedia | https://en.wikipedia.org/wiki/Diffuse_esophageal_spasm | 2021-01-18T18:59:24 | {"mesh": ["D015155"], "icd-9": ["530.5"], "wikidata": ["Q1224503"]} |
Cogan syndrome
SpecialtyRheumatology
Cogan syndrome (also Cogan's syndrome) is a rare disorder characterized by recurrent inflammation of the front of the eye (the cornea) and often fever, fatigue, and weight loss, episodes of vertigo (dizziness), tinnitus (ringing in the ears) and hearing loss. It can lea... | Cogan syndrome | c0271270 | 5,329 | wikipedia | https://en.wikipedia.org/wiki/Cogan_syndrome | 2021-01-18T18:34:52 | {"gard": ["1421"], "mesh": ["D055952"], "umls": ["C0271270"], "orphanet": ["1467"], "wikidata": ["Q1106923"]} |
SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve colobo... | SRD5A3-CDG | c4317224 | 5,330 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324737 | 2021-01-23T18:37:11 | {"gard": ["12397"], "mesh": ["C567328"], "omim": ["612379"], "umls": ["C3150191"], "icd-10": ["E77.8"], "synonyms": ["CDG syndrome type Iq", "CDG-Iq", "CDG1Q", "Congenital disorder of glycosylation type 1q", "Congenital disorder of glycosylation type Iq"]} |
A rare systemic autoimmune disease characterized by infiltrates of IgG4-positive plasma cells and lymphocytes in the adventitia of the aorta, resulting in thickening of perivascular tissue or formation of soft tissue masses surrounding the aorta and its major branches (potentially complicated by inflammatory aortic a... | IgG4-related aortitis | None | 5,331 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=449400 | 2021-01-23T18:09:58 | {"icd-10": ["I77.6"]} |
Pacemaker syndrome
Ventricular pacemaker with 1:1 retrograde ventriculoatrial (V-A) conduction to the atria (arrows).
SpecialtyCardiology
Pacemaker syndrome is a condition that represents the clinical consequences of suboptimal atrioventricular (AV) synchrony or AV dyssynchrony, regardless of the pacing mode... | Pacemaker syndrome | c0340929 | 5,332 | wikipedia | https://en.wikipedia.org/wiki/Pacemaker_syndrome | 2021-01-18T18:59:02 | {"umls": ["C0340929"], "icd-9": ["429.4"], "wikidata": ["Q1717013"]} |
Neonatal tetanus
Other namesMaternal neonatal tetanus (MNT)
Neonatal tetanus
SpecialtyPediatrics, Infectious disease
Neonatal tetanus is a form of generalised tetanus that occurs in newborns. Infants who have not acquired passive immunity from the mother having been immunised are at risk. It usually oc... | Neonatal tetanus | c0343312 | 5,333 | wikipedia | https://en.wikipedia.org/wiki/Neonatal_tetanus | 2021-01-18T18:53:27 | {"umls": ["C0343312"], "wikidata": ["Q18967592"]} |
Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.
## Epidemiology
Prevalence of this form of corneal ... | Congenital hereditary endothelial dystrophy type II | c1857569 | 5,334 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293603 | 2021-01-23T18:07:34 | {"gard": ["6196"], "mesh": ["C536439"], "omim": ["217700"], "umls": ["C1857569"], "icd-10": ["H18.5"], "synonyms": ["Autosomal recessive CHED", "Autosomal recessive congenital hereditary endothelial dystrophy", "CHED2", "CHEDII", "Congenital hereditary endothelial dystrophy type 2", "Infantile hereditary endothelial dy... |
Acid lipase disease or deficiency is a name used to describe two related disorders of fatty acid metabolism. Acid lipase disease occurs when the enzyme lysosomal acid lipase that is needed to break down certain fats that are normally digested by the body is lacking or missing. This results in the toxic buildup of the... | Acid lipase disease | c2936797 | 5,335 | wikipedia | https://en.wikipedia.org/wiki/Acid_lipase_disease | 2021-01-18T19:09:55 | {"mesh": ["C531854"], "wikidata": ["Q4674074"]} |
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.
Most people with Adams-Oliver syndrome have apla... | Adams-Oliver syndrome | c1970140 | 5,336 | medlineplus | https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/ | 2021-01-27T08:24:47 | {"gard": ["5739"], "mesh": ["C566997"], "omim": ["100300", "614219", "614814", "615297", "616028", "616589"], "synonyms": []} |
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
## Epidemiology
The disorder is very rare with less than 20 cases reported i... | 3-methylglutaconic aciduria type 1 | c0342727 | 5,337 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=67046 | 2021-01-23T19:09:25 | {"gard": ["10321"], "mesh": ["C562801"], "omim": ["250950"], "umls": ["C0342727", "C0342728"], "icd-10": ["E71.1"], "synonyms": ["3-methylglutaconyl-CoA hydratase deficiency", "3MG-CoA hydratase deficiency", "MGA1"]} |
Abnormal condition that negatively affects an organism
For other uses, see Disease (disambiguation).
"Maladies" redirects here. For the 2012 film, see Maladies (film).
"Ailment" redirects here. It is not to be confused with Aliment.
Scanning electron micrograph of Mycobacterium tuberculosis, a bacterium that caus... | Disease | c0012634 | 5,338 | wikipedia | https://en.wikipedia.org/wiki/Disease | 2021-01-18T18:54:15 | {"mesh": ["D004194"], "umls": ["C0012634"], "orphanet": ["377788"], "wikidata": ["Q12136"]} |
A number sign (#) is used with this entry because lysinuric protein intolerance (LPI) is caused by homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 (603593) on chromosome 14q11.
Description
Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) trans... | LYSINURIC PROTEIN INTOLERANCE | c0268647 | 5,339 | omim | https://www.omim.org/entry/222700 | 2019-09-22T16:28:43 | {"doid": ["0060439"], "mesh": ["C562687"], "omim": ["222700"], "orphanet": ["470"], "synonyms": ["Alternative titles", "DIBASIC AMINO ACIDURIA II"], "genereviews": ["NBK1361"]} |
Medication phobia
Other namesPharmacophobia
SpecialtyPsychology
Medication phobia, also known as pharmacophobia, is a fear of the use of pharmacological treatments.[1] In severe, excessive and irrational cases it may be a type of specific phobia.
While lack of awareness by patient or doctor of adverse drug ... | Medication phobia | None | 5,340 | wikipedia | https://en.wikipedia.org/wiki/Medication_phobia | 2021-01-18T18:59:06 | {"wikidata": ["Q6806658"]} |
Candidid
SpecialtyDermatology
Candidid is a skin condition, an id reaction, similar to dermatophytids.[1]:311
## See also[edit]
* Candidiasis
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatolo... | Candidid | c2888176 | 5,341 | wikipedia | https://en.wikipedia.org/wiki/Candidid | 2021-01-18T18:44:55 | {"umls": ["C2888176"], "icd-10": ["L30.2"], "wikidata": ["Q5031911"]} |
A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
## Epidemiology
The expected prevalence at birth is at least 1/160,000.
## Clinical description
The first signs... | Fanconi anemia | c0015625 | 5,342 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84 | 2021-01-23T18:39:33 | {"gard": ["6425"], "mesh": ["D005199"], "omim": ["227645", "227646", "227650", "300514", "600901", "603467", "609053", "609054", "610832", "613390", "613951", "614082", "614083", "615272", "616435", "617243", "617244", "617247", "617883"], "umls": ["C0015625"], "icd-10": ["D61.0"], "synonyms": ["Fanconi pancytopenia"]} |
Sexual fetishism relating to undergarments
One type of underwear fetishism involves stockings.
Underwear fetishism is a sexual fetishism relating to undergarments, and refers to preoccupation with the sexual excitement of certain types of underwear, including panties, stockings, pantyhose, bras, or other items. Som... | Underwear fetishism | None | 5,343 | wikipedia | https://en.wikipedia.org/wiki/Underwear_fetishism | 2021-01-18T19:06:23 | {"wikidata": ["Q839072"]} |
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement d... | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | None | 5,344 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=543470 | 2021-01-23T18:07:52 | {"icd-10": ["G71.3"]} |
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: "Dilaceration" – news · newspapers · books · scholar · JSTOR (September 2014) (Learn how and when to remove this templat... | Dilaceration | c0266048 | 5,345 | wikipedia | https://en.wikipedia.org/wiki/Dilaceration | 2021-01-18T19:03:33 | {"umls": ["C0266048"], "icd-9": ["520.4"], "icd-10": ["K00.4"], "wikidata": ["Q5276656"]} |
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal reces... | Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome | c1850184 | 5,346 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2772 | 2021-01-23T17:01:45 | {"mesh": ["C537558"], "omim": ["259410"], "umls": ["C1850184"], "icd-10": ["Q78.0"]} |
A number sign (#) is used with this entry because mutations in several genes in the mitochondrial glycine cleavage system have been found to cause glycine encephalopathy (GCE), also known as nonketotic hyperglycinemia (NKH). These include the genes encoding P protein (GLDC; 238300), T protein (AMT; 238310), and, in 1... | GLYCINE ENCEPHALOPATHY | c0751748 | 5,347 | omim | https://www.omim.org/entry/605899 | 2019-09-22T16:10:52 | {"doid": ["9268"], "mesh": ["D020158"], "omim": ["605899"], "icd-10": ["E72.51"], "orphanet": ["407", "289857", "289860", "289863"], "synonyms": ["Alternative titles", "HYPERGLYCINEMIA, NONKETOTIC"], "genereviews": ["NBK1357"]} |
Psychosomatic condition
For the film, see The Stendhal Syndrome.
Stendhal syndrome, Stendhal's syndrome or Florence syndrome is a psychosomatic condition involving rapid heartbeat, fainting, confusion and even hallucinations,[1] allegedly occurring when individuals become exposed to objects, artworks, or phenomena ... | Stendhal syndrome | None | 5,348 | wikipedia | https://en.wikipedia.org/wiki/Stendhal_syndrome | 2021-01-18T18:54:13 | {"wikidata": ["Q8363"]} |
A number sign (#) is used with this entry because of evidence that platelet-type bleeding disorder-21 (BDPLT21) is caused by heterozygous mutation in the FLI1 gene (193067) on chromosome 11q24. One family with a homozygous mutation in the FLI1 gene has been reported.
Heterozygous deletion of the FLI1 gene is believe... | BLEEDING DISORDER, PLATELET-TYPE, 21 | c1956093 | 5,349 | omim | https://www.omim.org/entry/617443 | 2019-09-22T15:45:48 | {"mesh": ["D054868"], "omim": ["617443"], "orphanet": ["851"]} |
Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota), small widened blood vessels under the skin (telangiectasia) and varicose veins (phlebectasia). The skin findings most often occur on the le... | Cutis marmorata telangiectatica congenita | c0345419 | 5,350 | gard | https://rarediseases.info.nih.gov/diseases/6228/cutis-marmorata-telangiectatica-congenita | 2021-01-18T18:01:00 | {"mesh": ["C536226"], "omim": ["219250"], "umls": ["C0345419"], "orphanet": ["1556"], "synonyms": ["CMTC", "Hereditary cutis marmorata telangiectatica congenita", "Van Lohuizen syndrome"]} |
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defe... | Neurofaciodigitorenal syndrome | c0796088 | 5,351 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2673 | 2021-01-23T18:08:17 | {"gard": ["3964"], "mesh": ["C537388"], "omim": ["256690"], "umls": ["C0796088"], "icd-10": ["Q87.8"], "synonyms": ["Freire Maia-Pinheiro-Opitz syndrome"]} |
Prurigo pigmentosa
SpecialtyDermatology
Prurigo pigmentosa is a rare skin condition of unknown cause, characterized by the sudden onset of erythematous papules that leave a reticulated hyperpigmentation when they heal.[1]:57 The condition has been associated with a strict ketogenic diet in case reports in the ... | Prurigo pigmentosa | c0406301 | 5,352 | wikipedia | https://en.wikipedia.org/wiki/Prurigo_pigmentosa | 2021-01-18T18:52:02 | {"icd-10": ["L28.2"], "wikidata": ["Q7253114"]} |
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
## Epidemiology
Three cases in one family have been described so far (two males, one female).
## Clinical description
Micrognathia... | Ophthalmomandibulomelic dysplasia | c1833872 | 5,353 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2741 | 2021-01-23T18:13:09 | {"gard": ["4089", "4365"], "mesh": ["C563501"], "omim": ["164900"], "umls": ["C1833872"], "icd-10": ["Q87.8"], "synonyms": ["OMM syndrome", "Pillay syndrome"]} |
A number sign (#) is used with this entry because Feingold syndrome-1 (FGLDS1) is caused by heterozygous mutation in the MYCN gene (164840) on chromosome 2p24.
Description
Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and d... | FEINGOLD SYNDROME 1 | c0796068 | 5,354 | omim | https://www.omim.org/entry/164280 | 2019-09-22T16:37:19 | {"doid": ["0060464"], "mesh": ["C537734"], "omim": ["164280"], "orphanet": ["391641", "1305"], "synonyms": ["Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1", "Microcephaly-digital anomalies-normal intelligence syndrome type 1", "Microcephaly-intellectual disability-tracheoes... |
Neurogenic bladder dysfunction, or neurogenic bladder, refers to urinary bladder problems due to disease or injury of the central nervous system or peripheral nerves involved in the control of urination. There are multiple types of neurogenic bladder depending on the underlying cause and the symptoms. Symptoms includ... | Neurogenic bladder dysfunction | c0005697 | 5,355 | wikipedia | https://en.wikipedia.org/wiki/Neurogenic_bladder_dysfunction | 2021-01-18T18:40:44 | {"mesh": ["D001750"], "umls": ["C0005697"], "icd-10": ["N31.9"], "wikidata": ["Q2339038"]} |
Lateral meningocele syndrome
Other namesLehman syndrome[1]
Lateral meningocele syndrome is inherited in an autosomal dominant manner
The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction.[2]
## Contents
* 1 Pr... | Lateral meningocele syndrome | c1851710 | 5,356 | wikipedia | https://en.wikipedia.org/wiki/Lateral_meningocele_syndrome | 2021-01-18T18:55:24 | {"gard": ["9873"], "mesh": ["C537878"], "umls": ["C0344487", "C1851710"], "orphanet": ["2789"], "wikidata": ["Q18589160"]} |
West Nile encephalitis is a form of West Nile virus that affects the neurological system. Signs and symptoms may include headache, fever, neck stiffness, disorientation, tremors, seizures, paralysis, or coma. West Nile virus is generally spread to humans by infected mosquitos. West Nile encephalitis, specifically... | West Nile virus encephalitis | c0751583 | 5,357 | gard | https://rarediseases.info.nih.gov/diseases/9959/west-nile-virus-encephalitis | 2021-01-18T17:57:06 | {"mesh": ["D014901"], "umls": ["C0751583"], "synonyms": []} |
Peters and Hovels (1960) described the familial nature of the syndrome. This is one of the first and second arch syndromes. It is easily confused with mandibulofacial dysostosis (154400). Its features are anterior-posterior shortening of the maxilla, antimongoloid-slanting of the palpebral fissures, minor malformatio... | MAXILLOFACIAL DYSOSTOSIS | c1835088 | 5,358 | omim | https://www.omim.org/entry/155000 | 2019-09-22T16:38:31 | {"mesh": ["C563599"], "omim": ["155000"]} |
Splinter hemorrhage
Splinter hemorrhage on a fingernail of the little finger
Differential diagnosissubacute infective endocarditis, scleroderma, trichinosis, systemic lupus erythematosus (SLE), rheumatoid arthritis, psoriatic nails, antiphospholipid syndrome
Splinter hemorrhages (or haemorrhages) are tiny bl... | Splinter hemorrhage | c0333286 | 5,359 | wikipedia | https://en.wikipedia.org/wiki/Splinter_hemorrhage | 2021-01-18T19:00:02 | {"umls": ["C0333286"], "wikidata": ["Q7578579"]} |
Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the ... | Hereditary cerebral amyloid angiopathy | c2931672 | 5,360 | medlineplus | https://medlineplus.gov/genetics/condition/hereditary-cerebral-amyloid-angiopathy/ | 2021-01-27T08:25:24 | {"gard": ["10266"], "mesh": ["C537944"], "omim": ["605714", "105150", "176500", "117300"], "synonyms": []} |
Familial pancreatic cancer (FPC) is the occurrence of pancreatic cancer in two or more first-degree relatives (parent and child, or two siblings). It is sometimes referred to as FPC only when there is not a known hereditary cancer syndrome in an affected family. In familial cases, pancreatic cancer often occurs befor... | Familial pancreatic cancer | c2931038 | 5,361 | gard | https://rarediseases.info.nih.gov/diseases/4206/familial-pancreatic-cancer | 2021-01-18T18:00:33 | {"mesh": ["C535837"], "umls": ["C2931038"], "orphanet": ["1333"], "synonyms": ["Hereditary pancreatic carcinoma", "Familial pancreatic carcinoma", "Hereditary pancreatic cancer"]} |
A number sign (#) is used with this entry because of evidence that some cases of Martsolf syndrome are caused by homozygous mutation in the gene encoding the noncatalytic subunit of RAB3 GTPase-activating protein (RAB3GAP2; 609275) on chromosome 1q41.
Warburg Micro syndrome-2 (WARBM2; 614225), a clinically overlappi... | MARTSOLF SYNDROME | c0796037 | 5,362 | omim | https://www.omim.org/entry/212720 | 2019-09-22T16:30:03 | {"mesh": ["C536028"], "omim": ["212720"], "orphanet": ["1387"], "synonyms": ["Alternative titles", "CATARACT-MENTAL RETARDATION-HYPOGONADISM"], "genereviews": ["NBK475670"]} |
A number sign (#) is used with this entry because of evidence that combined oxidative phosphorylation deficiency-29 (COXPD29) is caused by homozygous mutation in the TXN2 gene (609063) on chromosome 22q12.3. One such patient has been reported.
For a discussion of genetic heterogeneity of combined oxidative phosphory... | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 | c4225200 | 5,363 | omim | https://www.omim.org/entry/616811 | 2019-09-22T15:47:51 | {"omim": ["616811"]} |
Pierre Robin sequence
Other namesPierre Robin syndrome, Pierre Robin malformation, Pierre Robin anomaly, Pierre Robin anomalad[1]
SpecialtyMedical genetics
SymptomsMicrognathia, glossoptosis, obstruction of the upper airway, sometimes cleft palate
Usual onsetDuring gestation, present at birth
Causesintraute... | Pierre Robin sequence | c0031900 | 5,364 | wikipedia | https://en.wikipedia.org/wiki/Pierre_Robin_sequence | 2021-01-18T18:41:01 | {"gard": ["4347"], "mesh": ["D010855"], "icd-9": ["756.0"], "icd-10": ["Q87.0"], "orphanet": ["718"], "wikidata": ["Q1756040"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of episodic kinesigenic dyskinesia (EKD), also referred to as paroxysmal kinesigenic choreoathetosis (PKC), see EKD1 (128200).
Clinical Features
Valente et al. (2000) reported a large Indian kindred in which 13 individuals received a... | EPISODIC KINESIGENIC DYSKINESIA 2 | c1868682 | 5,365 | omim | https://www.omim.org/entry/611031 | 2019-09-22T16:03:44 | {"doid": ["0090054"], "omim": ["611031"], "orphanet": ["98809"], "synonyms": ["Alternative titles", "DYSTONIA 19"]} |
Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, ... | Distal trisomy 19q | c4707664 | 5,366 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1717 | 2021-01-23T18:15:19 | {"icd-10": ["Q92.3"], "synonyms": ["Distal duplication 19q", "Telomeric duplication 19q", "Trisomy 19qter"]} |
A number sign (#) is used with this entry because of evidence that Joubert syndrome-33 (JBTS33) is caused by homozygous or compound heterozygous mutation in the PIBF1 gene (607532) on chromosome 13q21.
Description
Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairm... | JOUBERT SYNDROME 33 | c4540389 | 5,367 | omim | https://www.omim.org/entry/617767 | 2019-09-22T15:44:53 | {"omim": ["617767"]} |
Portal vein thrombosis
Portal vein thrombosis seen with computed tomography.
SpecialtyAngiology
Portal vein thrombosis (PVT) is a vascular disease of the liver that occurs when a blood clot occurs in the hepatic portal vein, which can lead to increased pressure in the portal vein system and reduced blood sup... | Portal vein thrombosis | c0155773 | 5,368 | wikipedia | https://en.wikipedia.org/wiki/Portal_vein_thrombosis | 2021-01-18T18:32:31 | {"umls": ["C0155773"], "orphanet": ["854"], "wikidata": ["Q1704044"]} |
A number sign (#) is used with this entry because of evidence that pyogenic sterile arthritis, pyoderma gangrenosum, and acne is caused by heterozygous mutation in the PSTPIP1 gene (606347) on chromosome 15q24.
Clinical Features
Lindor et al. (1997) described a multigeneration family with transmission of an aut... | PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE | c1858361 | 5,369 | omim | https://www.omim.org/entry/604416 | 2019-09-22T16:11:58 | {"doid": ["0080519"], "mesh": ["C536253"], "omim": ["604416"], "icd-10": ["M04.8"], "orphanet": ["69126"], "synonyms": ["Alternative titles", "PAPA SYNDROME", "FAMILIAL RECURRENT ARTHRITIS"]} |
Chronic phase chronic myelogenous leukemia is a phase of chronic myelogenous leukemia in which 5% or fewer of the cells in the blood and bone marrow are blast cells (immature blood cells). This phase may last from several months to several years, and there may be no symptoms of leukemia.
## References[edit]
* Chr... | Chronic phase chronic myelogenous leukemia | c0023474 | 5,370 | wikipedia | https://en.wikipedia.org/wiki/Chronic_phase_chronic_myelogenous_leukemia | 2021-01-18T18:54:23 | {"mesh": ["D015466"], "wikidata": ["Q5113990"]} |
Fox-Fordyce disease is a chronic skin disease most common in women aged 13-35 years. It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The c... | Fox-Fordyce disease | c0016632 | 5,371 | gard | https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease | 2021-01-18T18:00:26 | {"mesh": ["D005588"], "umls": ["C0016632"], "synonyms": ["Miliaria, apocrine", "Apocrine miliaria", "Fox-Fordyce syndrome"]} |
This article is about the memory error. In everyday speech, "confabulation" may refer to a conversation.
In psychology, confabulation is a memory error defined as the production of fabricated, distorted, or misinterpreted memories about oneself or the world. People who confabulate present incorrect memories ranging ... | Confabulation | c0233800 | 5,372 | wikipedia | https://en.wikipedia.org/wiki/Confabulation | 2021-01-18T18:51:23 | {"umls": ["C0233800"], "wikidata": ["Q1082351"]} |
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
*[v]: View this template
... | Maternal uniparental disomy of chromosome X | None | 5,373 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261519 | 2021-01-23T18:01:40 | {"icd-10": ["Q99.8"], "synonyms": ["UPD(X)mat"]} |
Vinotherapy, also written "Vinotherapie" describes a beauty therapy process where the residue of wine making (the pips and pulp) are rubbed into the skin. The pulp is said to have excellent exfoliating qualities and help reduce the problems associated with ageing.
## History[edit]
The concept of vinotherapy was exp... | Vinotherapy | None | 5,374 | wikipedia | https://en.wikipedia.org/wiki/Vinotherapy | 2021-01-18T18:43:01 | {"wikidata": ["Q2436654"]} |
Inborn errors of renal tubular transport
SpecialtyObstetrics and gynaecology, urology, medical genetics, endocrinology
Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salts or amino acids, to be transported across the brush border... | Inborn errors of renal tubular transport | c0035091 | 5,375 | wikipedia | https://en.wikipedia.org/wiki/Inborn_errors_of_renal_tubular_transport | 2021-01-18T18:35:29 | {"mesh": ["D015499"], "umls": ["C0035091"], "wikidata": ["Q6013986"]} |
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous ... | Gemignani syndrome | c2931587 | 5,376 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2074 | 2021-01-23T18:54:50 | {"gard": ["2451"], "mesh": ["C537678"], "umls": ["C2931587"], "synonyms": ["Spinocerebellar ataxia-amyotrophy-deafness syndrome", "Spinocerebellar ataxia-amyotrophy-hearing loss syndrome"]} |
A number sign (#) is used with this entry because of evidence that ichthyosis vulgaris is caused by heterozygous mutation in the filaggrin gene (FLG; 135940) on chromosome 1q21. Patients with homozygous or compound heterozygous mutations in this gene have a more severe phenotype.
Clinical Features
Ichthyosis is one... | ICHTHYOSIS VULGARIS | c0079584 | 5,377 | omim | https://www.omim.org/entry/146700 | 2019-09-22T16:39:39 | {"doid": ["1702"], "mesh": ["D016112"], "omim": ["146700"], "icd-10": ["Q80.0"], "synonyms": ["Alternative titles", "ICHTHYOSIS SIMPLEX"]} |
Typical posture of a person with Parkinson's disease, illustration by Sir William Richard Gowers, from A Manual of Diseases of the Nervous System (1886)
Parkinsonian gait (or festinating gait, from Latin festinare [to hurry]) is the type of gait exhibited by patients suffering from Parkinson's disease (PD).[1] It is... | Parkinsonian gait | c0427160 | 5,378 | wikipedia | https://en.wikipedia.org/wiki/Parkinsonian_gait | 2021-01-18T18:56:27 | {"wikidata": ["Q3743995"]} |
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention trem... | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | c4225236 | 5,379 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466794 | 2021-01-23T18:37:07 | {"omim": ["616719"], "icd-10": ["G11.0"], "synonyms": ["Autosomal recessive spinocerebellar ataxia type 21", "SCAR21"]} |
Radial dysplasia
Other namesRadial longitudinal deficiency
Radial club hand with thumb missing
Radial dysplasia, also known as radial club hand or radial longitudinal deficiency, is a congenital difference occurring in a longitudinal direction resulting in radial deviation of the wrist and shortening of the ... | Radial dysplasia | c4025414 | 5,380 | wikipedia | https://en.wikipedia.org/wiki/Radial_dysplasia | 2021-01-18T18:41:09 | {"gard": ["225"], "icd-10": ["Q71.4"], "orphanet": ["93321"], "synonyms": ["Congenital longitudinal deficiency of the radius", "Radial clubhand", "Radial longitidinal meromelia", "Radial ray agenesis"], "wikidata": ["Q1776603"]} |
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. (July 2011)
Plum syndrome
Other namesOculocerebroosseous syndrome
Plum syndrome is a very rare genetic disorder. It is characterized by retinal non... | Plum syndrome | None | 5,381 | wikipedia | https://en.wikipedia.org/wiki/Plum_syndrome | 2021-01-18T18:59:33 | {"orphanet": ["2708"], "wikidata": ["Q7205365"]} |
Male infertility
SpecialtyUrology
Male infertility refers to a male's inability to cause pregnancy in a fertile female.[1] In humans it accounts for 40–50% of infertility.[2][3][4] It affects approximately 7% of all men.[5] Male infertility is commonly due to deficiencies in the semen, and semen quality is... | Male infertility | c0021364 | 5,382 | wikipedia | https://en.wikipedia.org/wiki/Male_infertility | 2021-01-18T18:37:28 | {"mesh": ["D007248"], "umls": ["C0021364"], "wikidata": ["Q280156"]} |
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorph... | Hennekam-Beemer syndrome | c3151493 | 5,383 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2135 | 2021-01-23T18:14:16 | {"gard": ["3409"], "omim": ["248910"], "icd-10": ["Q82.2"], "synonyms": ["Mastocytosis-short stature-deafness syndrome", "Mastocytosis-short stature-hearing loss syndrome"]} |
Blister containing purulent fluid
For other uses, see Pimple (disambiguation).
Pimple
Other namesZit, spot
A pimple (center) evolved into the pustule stage
SpecialtyDermatology
A pimple is a kind of comedo that results from excess sebum and dead skin cells getting trapped in the pores of the skin. In its... | Pimple | c0241157 | 5,384 | wikipedia | https://en.wikipedia.org/wiki/Pimple | 2021-01-18T18:36:12 | {"umls": ["C0241157"], "icd-9": ["709.8709.8"], "icd-10": ["R23.823.8"], "wikidata": ["Q1172159"]} |
Condition of having an additional breast
Accessory breast
A woman with several accessory breasts
Pronunciation
* no information
SpecialtyMedical genetics
Accessory breasts, also known as polymastia, supernumerary breasts, or mammae erraticae, is the condition of having an additional breast. E... | Accessory breast | c0266010 | 5,385 | wikipedia | https://en.wikipedia.org/wiki/Accessory_breast | 2021-01-18T18:56:25 | {"umls": ["C0266010"], "icd-9": ["757.6"], "icd-10": ["Q83.1"], "orphanet": ["180182"], "wikidata": ["Q2701591"]} |
A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywh... | First branchial cleft anomaly | c3874320 | 5,386 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141013 | 2021-01-23T18:20:36 | {"icd-10": ["Q18.0"], "synonyms": ["First branchial cleft cyst", "First branchial cleft fistula"]} |
A number sign (#) is used with this entry because of evidence that familial hypertrophic cardiomyopathy-27 (CMH27) is caused by homozygous mutation in the ALPK3 gene (617608) on chromosome 15q25.
Description
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic dis... | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 | None | 5,387 | omim | https://www.omim.org/entry/618052 | 2019-09-22T15:43:51 | {"omim": ["618052"]} |
Short head due to premature fusion of the coronal sutures
For brachycephalic animal breeds, see Cephalic index in animal breeding. For the condition in animals, see Brachycephalic airway obstructive syndrome.
Brachycephaly
Other namesBrachyceplalic
Brachicephaly and dolichocephaly
SpecialtyMedical genetics
... | Brachycephaly | c0221356 | 5,388 | wikipedia | https://en.wikipedia.org/wiki/Brachycephaly | 2021-01-18T18:38:32 | {"mesh": ["D003398"], "umls": ["C0221356"], "icd-9": ["756.0"], "wikidata": ["Q42649"]} |
This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal domina... | Isolated congenital anosmia | c0393778 | 5,389 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88620 | 2021-01-23T17:27:29 | {"gard": ["9486"], "mesh": ["C535983"], "omim": ["107200"], "umls": ["C0393778"], "icd-10": ["Q07.8"]} |
Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are ... | Hepatorenal syndrome | c0019212 | 5,390 | gard | https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome | 2021-01-18T18:00:05 | {"mesh": ["D006530"], "synonyms": ["Hepato-renal syndrome"]} |
Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.
*[v]: View this template
*[t]: Dis... | Ependymoblastoma | c0700367 | 5,391 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251880 | 2021-01-23T18:47:10 | {"mesh": ["D018242"], "umls": ["C0700367"], "icd-10": ["C71.9"]} |
Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appe... | Eosinophilic pustular folliculitis | c0406305 | 5,392 | gard | https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis | 2021-01-18T18:00:41 | {"mesh": ["C535953"], "umls": ["C0406305"], "synonyms": ["Ofuji's disease", "Ofuji disease", "Eosinophilic folliculitis, pustular", "EPF", "Eosinophilic folliculitis"]} |
Abortion in the Solomon Islands is only legal if the abortion will save the mother's life.[1] In the Solomon Islands, if an abortion is performed on a woman for any other reason, the violator is subject to a life sentence in prison.[1] A woman who performs a self-induced abortion may also be imprisoned for life.[1]
... | Abortion in the Solomon Islands | None | 5,393 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_the_Solomon_Islands | 2021-01-18T19:10:49 | {"wikidata": ["Q19568865"]} |
Progressive supranuclear palsy
Other namesSteele–Richardson–Olszewski syndrome, frontotemporal dementia with parkinsonism
SpecialtyNeurology
SymptomsImpaired balance, slowed movements, difficulty moving eyes, dementia
Usual onset60–70 years
CausesUnknown
Differential diagnosisParkinson's disease, cort... | Progressive supranuclear palsy | c0038868 | 5,394 | wikipedia | https://en.wikipedia.org/wiki/Progressive_supranuclear_palsy | 2021-01-18T18:28:53 | {"gard": ["7471"], "mesh": ["D013494"], "umls": ["C0038868"], "orphanet": ["683"], "wikidata": ["Q945930"]} |
A number sign (#) is used with this entry because of evidence that osteogenesis imperfecta X (OI10) is caused by homozygous mutation in the SERPINH gene (600943) on chromosome 11q13.
Description
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low... | OSTEOGENESIS IMPERFECTA, TYPE X | c0268362 | 5,395 | omim | https://www.omim.org/entry/613848 | 2019-09-22T15:57:15 | {"doid": ["0110346"], "mesh": ["C536044"], "omim": ["613848"], "orphanet": ["216812", "666"], "synonyms": ["Alternative titles", "OI, TYPE X"]} |
Zunich–Kaye syndrome
Other namesZunich neuroectodermal syndrome
Zunich–Kaye syndrome has an autosomal recessive pattern of inheritance.
Zunich–Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983.[1] It is also referred to as CHIME syndrome, af... | Zunich–Kaye syndrome | c1848392 | 5,396 | wikipedia | https://en.wikipedia.org/wiki/Zunich%E2%80%93Kaye_syndrome | 2021-01-18T18:48:51 | {"gard": ["310"], "mesh": ["C536729"], "umls": ["C1848392"], "orphanet": ["3474"], "wikidata": ["Q8075299"]} |
## Summary
### Clinical characteristics.
Amish lethal microcephaly is characterized by severe congenital microcephaly and highly elevated 2-ketoglutarate or lactic acidosis. The occipitofrontal circumference is typically more than two standard deviations (occasionally >6 SD) below the mean; anterior and posteri... | Amish Lethal Microcephaly | c1846648 | 5,397 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1365/ | 2021-01-18T21:43:05 | {"mesh": ["C538247"], "synonyms": ["Amish Microcephaly", "MCPHA"]} |
A rare hemorrhagic disorder due to an acquired coagulation factor defect characterized by sudden, spontaneous, and often severe bleeding, manifesting with skin, muscle and mucuous membrane hemorrhages, in persons without a previous bleeding tendency. Additional symptoms may include epistaxis, gastrointestinal and/or ... | Acquired hemophilia | c1096116 | 5,398 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=73274 | 2021-01-23T18:49:27 | {"gard": ["10350"], "umls": ["C1096116"], "icd-10": ["D68.4"]} |
Syndrome characterized by acute brain damage and liver function problems
Reye syndrome
Other namesReye's syndrome
Appearance of a liver from a child who died of Reye syndrome as seen with a microscope. Hepatocytes are pale-staining due to intracellular fat droplets.
Pronunciation
* /raɪ ˈsɪndroʊm/ rye SIN-d... | Reye syndrome | c0035400 | 5,399 | wikipedia | https://en.wikipedia.org/wiki/Reye_syndrome | 2021-01-18T18:28:02 | {"gard": ["7570"], "mesh": ["D012202"], "umls": ["C0035400"], "orphanet": ["3096"], "wikidata": ["Q826103"]} |
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