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Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histological... | Congenital panfollicular nevus | c4476799 | 2,200 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139414 | 2021-01-23T17:01:36 | {} |
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome is a rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy,... | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | None | 2,201 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263410 | 2021-01-23T17:49:41 | {} |
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Find sources: "Cavitary pneumonia" – news · newspapers · books · scholar · JSTOR (July 2018) (Learn how and when to remove this template message)
C... | Cavitary pneumonia | c0747674 | 2,202 | wikipedia | https://en.wikipedia.org/wiki/Cavitary_pneumonia | 2021-01-18T18:58:11 | {"umls": ["C0747674"], "wikidata": ["Q5055162"]} |
The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures,... | Absence of septum pellucidum | c0431371 | 2,203 | gard | https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum | 2021-01-18T18:02:23 | {"mesh": ["C535562"], "umls": ["C0431371"], "synonyms": []} |
## Clinical Features
Molinari et al. (2008) reported an Australian family with nonsyndromic X-linked mental retardation. Of 5 sibs, there was 1 healthy girl, 2 girls with mild mental retardation, and 2 boys with severe mental retardation. The 2 affected males had a similar phenotype with the same degree of handicap... | MENTAL RETARDATION, X-LINKED 95 | c2931498 | 2,204 | omim | https://www.omim.org/entry/300716 | 2019-09-22T16:19:43 | {"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300716"], "orphanet": ["777"]} |
Not to be confused with Nephritic syndrome.
Nephrotic syndrome
Microscopic image of diabetic glomerulosclerosis, the main cause of nephrotic syndrome in adults.
SpecialtyNephrology
SymptomsSwelling, weight gain, feeling tired, foamy urine[1]
ComplicationsBlood clots, infections, high blood pressure[1]
Caus... | Nephrotic syndrome | c0027726 | 2,205 | wikipedia | https://en.wikipedia.org/wiki/Nephrotic_syndrome | 2021-01-18T19:09:58 | {"mesh": ["D009404"], "umls": ["C0027726"], "wikidata": ["Q504790"]} |
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cata... | Hyperferritinemia-cataract syndrome | c1833213 | 2,206 | medlineplus | https://medlineplus.gov/genetics/condition/hyperferritinemia-cataract-syndrome/ | 2021-01-27T08:25:17 | {"gard": ["2806"], "mesh": ["C538137"], "omim": ["600886"], "synonyms": []} |
Lentigo maligna
Other namesLentiginous melanoma on sun-damaged skin'
Irregular patch about 10mm square after scrape biopsy which concluded "suspicious of early malignant melanoma". Colour before scrape biopsy was light brown. Post excision pathology was "Lentigo maligna - Melanoma in situ"
SpecialtyDermatology ... | Lentigo maligna | c0149722 | 2,207 | wikipedia | https://en.wikipedia.org/wiki/Lentigo_maligna | 2021-01-18T18:53:48 | {"mesh": ["D018327"], "icd-9": ["M8742/2"], "icd-10": ["C44"], "wikidata": ["Q13257137"]} |
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Find sources: "Cricopharyngeal spasm" – news · newspapers · books · scholar · JSTOR (November 2009) (Learn how and when to remove ... | Cricopharyngeal spasm | c0267063 | 2,208 | wikipedia | https://en.wikipedia.org/wiki/Cricopharyngeal_spasm | 2021-01-18T18:38:17 | {"umls": ["C0267063", "C0396005"], "icd-10": ["K22.4"], "wikidata": ["Q5185088"]} |
Subphrenic Abscess
Other namesSubdiaphragmatic Abscess [1]
SpecialtyInfectious disease, gastroenterology
Subphrenic abscess is a disease characterized by an accumulation of infected fluid between the diaphragm, liver, and spleen.[2] This abscess develops after surgical operations like splenectomy. Presents w... | Subphrenic abscess | c0038565 | 2,209 | wikipedia | https://en.wikipedia.org/wiki/Subphrenic_abscess | 2021-01-18T18:57:51 | {"mesh": ["D013369"], "wikidata": ["Q4367483"]} |
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Find sources: "Subgaleal hemorrhage" – news · newspapers · books · scholar · JSTOR (January 2014) (Learn how and when to remove th... | Subgaleal hemorrhage | c2721649 | 2,210 | wikipedia | https://en.wikipedia.org/wiki/Subgaleal_hemorrhage | 2021-01-18T18:42:47 | {"umls": ["C2721649"], "icd-9": ["767.1"], "icd-10": ["P12"], "wikidata": ["Q7631144"]} |
Adult-onset Still's disease (AOSD) is an inflammatory condition that affects multiple organs. The most common symptoms are high fevers, skin rash, arthritis, and high levels of ferritin, a protein that stores iron in the blood. Other symptoms include an enlarged spleen and lymph nodes, joint pain, and sore throat... | Adult-onset Still's disease | c0085253 | 2,211 | gard | https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease | 2021-01-18T18:02:15 | {"mesh": ["D016706"], "umls": ["C0085253"], "orphanet": ["829"], "synonyms": ["Adult Still's disease", "Still's disease adult onset"]} |
## Cloning and Expression
A family of structurally and pharmacologically distinct peptides, the endothelins, have been identified and sequenced in humans (Inoue et al., 1989). Three isoforms of human endothelin have been identified: endothelin-1, -2, and -3. Endothelin-1 is a potent, 21-amino acid vasoconstrictor p... | ENDOTHELIN 1 | c3888126 | 2,212 | omim | https://www.omim.org/entry/131240 | 2019-09-22T16:41:36 | {"omim": ["131240"], "synonyms": ["Alternative titles", "ET1"]} |
Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in associ... | Polydactyly | c0152427 | 2,213 | gard | https://rarediseases.info.nih.gov/diseases/4410/polydactyly | 2021-01-18T17:58:16 | {"mesh": ["D017689"], "omim": ["603596"], "orphanet": ["2913"], "synonyms": ["Extra digits", "Supernumerary digits", "Polydactylia", "Hyperdactyly", "Polydactylism", "Non-syndromic polydactyly"]} |
For other uses, see Psychosis (disambiguation).
Not to be confused with Psychopathy.
Condition of the mind that involves a loss of contact with reality
Psychosis
Other namesPsychotic break
Van Gogh's The Starry Night, from 1889, shows changes in light and color as can appear with psychosis.[1][2][3]
Specialt... | Psychosis | c0033975 | 2,214 | wikipedia | https://en.wikipedia.org/wiki/Psychosis | 2021-01-18T18:51:57 | {"mesh": ["D011618"], "umls": ["C0033975"], "icd-10": ["F23", "F28", "F22", "F29", "F20", "F27", "F25", "F24", "F21", "F26"], "wikidata": ["Q170082"]} |
A number sign (#) is used with this entry because propionic acidemia is caused by mutation in the genes encoding propionyl-CoA carboxylase, PCCA (232000) or PCCB (232050). Cells from patients with mutations in the PCCA gene fall into complementation group pccA. Cells from patients with mutations in the PCCB gene ... | PROPIONIC ACIDEMIA | c0268579 | 2,215 | omim | https://www.omim.org/entry/606054 | 2019-09-22T16:10:44 | {"doid": ["14701"], "mesh": ["D056693"], "omim": ["606054"], "icd-10": ["E71.121"], "orphanet": ["35"], "synonyms": ["Alternative titles", "PROPIONYL-CoA CARBOXYLASE DEFICIENCY", "PCC DEFICIENCY", "GLYCINEMIA, KETOTIC", "HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA", "KETOTIC HYPERGLYCINEMIA"], "genereviews": ["NBK... |
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, ep... | Von Willebrand disease type 2A | c1282968 | 2,216 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166084 | 2021-01-23T19:12:46 | {"mesh": ["D056728"], "omim": ["613554"], "umls": ["C1282968"], "icd-10": ["D68.0"]} |
Parks et al. (1978) described this combination in 2 sisters and a brother, the only children of nonconsanguineous parents. Basal thyrotropin levels were low despite hypothyroidism, and increased little after injection of thyrotropin-releasing hormone. Stimulated growth hormone levels were less than 5 nanograms per mi... | PITUITARY DWARFISM WITH LARGE SELLA TURCICA | c0271575 | 2,217 | omim | https://www.omim.org/entry/262710 | 2019-09-22T16:23:19 | {"mesh": ["C562705"], "omim": ["262710"]} |
Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites ... | Neuroblastoma | c2749485 | 2,218 | medlineplus | https://medlineplus.gov/genetics/condition/neuroblastoma/ | 2021-01-27T08:25:08 | {"gard": ["7185"], "omim": ["256700", "613013", "613014"], "synonyms": []} |
Alphaarterivirus equid
Virus classification
(unranked): Virus
Realm: Riboviria
Kingdom: Orthornavirae
Phylum: Pisuviricota
Class: Pisoniviricetes
Order: Nidovirales
Family: Arteriviridae
Subfamily: Equarterivirinae
Genus: Alphaarterivirus
Species:
Alphaarterivirus equid
Equine vir... | Equine viral arteritis | c0276313 | 2,219 | wikipedia | https://en.wikipedia.org/wiki/Equine_viral_arteritis | 2021-01-18T18:43:01 | {"wikidata": ["Q552059"]} |
Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
## Epidemiology
Tietz syndrome has been reported in 7 families to date.
## Clinical description
Affe... | Tietz syndrome | c0391816 | 2,220 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=42665 | 2021-01-23T17:32:14 | {"gard": ["7772"], "mesh": ["C536919"], "omim": ["103500"], "umls": ["C0391816"], "synonyms": ["Hypopigmentation-deafness syndrome", "Hypopigmentation-hearing loss syndrome"]} |
A number sign (#) is used with this entry because of evidence that congenital muscular dystrophy with cataracts and intellectual disability (MDCCAID) is caused by homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.
Description
MDCCAID is an autosomal recessive form of muscu... | MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY | c4479410 | 2,221 | omim | https://www.omim.org/entry/617404 | 2019-09-22T15:45:52 | {"omim": ["617404"]} |
Exogenous ochronosis (EO) refers to the bluish-black discoloration of areas of the skin, especially the face, ear cartilage, the ocular (eye) tissue, and other body locations. It occurs as the result of exposure to malarial drugs, skin lightening creams and over-exposure the the sun. Other than the skin discoloration... | Exogenous ochronosis | c1444199 | 2,222 | gard | https://rarediseases.info.nih.gov/diseases/10757/exogenous-ochronosis | 2021-01-18T18:00:38 | {"mesh": ["C531762"], "synonyms": ["Ochronosis, acquired"]} |
A number sign (#) is used with this entry because of evidence that perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis (PMGYCHA) is caused by compound heterozygous mutation in the PI4KA gene (600286) on chromosome 22q11. One such family has been reported.
Clinical Features
Pagnamenta et al. (2015)... | POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS | c1845668 | 2,223 | omim | https://www.omim.org/entry/616531 | 2019-09-22T15:48:37 | {"mesh": ["C536658"], "omim": ["616531"], "orphanet": ["268940", "98889"], "synonyms": []} |
Language disorder involving inability to understand language
Not to be confused with Wernicke–Korsakoff syndrome or expressive aphasia.
Receptive aphasia
Other namesWernicke's aphasia, fluent aphasia, sensory aphasia
Broca's area and Wernicke's area
SpecialtyNeurology
Wernicke's aphasia, also known as re... | Receptive aphasia | c0454578 | 2,224 | wikipedia | https://en.wikipedia.org/wiki/Receptive_aphasia | 2021-01-18T18:33:27 | {"mesh": ["D001041"], "icd-9": ["784.3"], "icd-10": ["F80.2"], "wikidata": ["Q1741331"]} |
A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic ag... | Autosomal recessive spastic ataxia with leukoencephalopathy | c1969645 | 2,225 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314603 | 2021-01-23T17:18:28 | {"mesh": ["C566956"], "omim": ["611390"], "umls": ["C1969645"], "icd-10": ["G11.4"], "synonyms": ["ARSAL", "Autosomal recessive spastic ataxia type 3", "SPAX3"]} |
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25... | Mevalonate kinase deficiency | c0398691 | 2,226 | medlineplus | https://medlineplus.gov/genetics/condition/mevalonate-kinase-deficiency/ | 2021-01-27T08:24:50 | {"gard": ["2788", "3588"], "mesh": ["D054078"], "omim": ["260920", "610377"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that autosomal dominant deafness-3B (DFNA3B) is caused by heterozygous mutation in the connexin-30 gene (GJB6; 604418) on chromosome 13q12. One such family has been reported.
See also DFNA3A (601544), which is caused by mutation in the connexin-26 gene (G... | DEAFNESS, AUTOSOMAL DOMINANT 3B | c2675237 | 2,227 | omim | https://www.omim.org/entry/612643 | 2019-09-22T16:00:55 | {"doid": ["0110565"], "mesh": ["C567215"], "omim": ["612643"], "orphanet": ["90635"], "synonyms": ["Autosomal dominant isolated neurosensory deafness type DFNA", "Autosomal dominant isolated neurosensory hearing loss type DFNA", "Autosomal dominant isolated sensorineural deafness type DFNA", "Autosomal dominant isolate... |
Trifascicular block
SpecialtyCardiology
Trifascicular block is a problem with the electrical conduction of the heart, specifically the three fascicles that carry electrical signals from the atrioventricular node to the ventricles. The three fascicles include the right bundle branch, the left anterior fascicle ... | Trifascicular block | c0155707 | 2,228 | wikipedia | https://en.wikipedia.org/wiki/Trifascicular_block | 2021-01-18T19:10:10 | {"umls": ["C0155707"], "icd-9": ["426.54"], "icd-10": ["I45.3"], "wikidata": ["Q3640997"]} |
Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizzines... | Congenital complete agenesis of pericardium | None | 2,229 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99129 | 2021-01-23T17:09:01 | {"icd-10": ["Q24.8"]} |
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patient... | Osteosclerosis-ichthyosis-premature ovarian failure syndrome | c1864942 | 2,230 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75325 | 2021-01-23T17:51:47 | {"gard": ["9904"], "mesh": ["C536064"], "omim": ["609993"], "umls": ["C1864942"], "synonyms": ["Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome"]} |
Occlusal trauma
Secondary occlusal trauma on X-ray film displays two lone-standing mandibular teeth, the lower left first premolar and canine. As the remnants of a once full complement of 16 lower teeth, these two teeth have been alone in opposing the forces associated with mastication for some time, as can be evid... | Occlusal trauma | c0011385 | 2,231 | wikipedia | https://en.wikipedia.org/wiki/Occlusal_trauma | 2021-01-18T18:54:30 | {"mesh": ["D003769"], "wikidata": ["Q7075713"]} |
A number sign (#) is used with this entry because this form of peroxisome biogenesis disorder (PBD1B) is caused by homozygous or compound heterozygous mutation in the PEX1 gene (602136) on chromosome 7q21. Mutations in the PEX1 gene also cause Zellweger syndrome (PBD1A; 214100).
Description
Peroxisome biogenesi... | PEROXISOME BIOGENESIS DISORDER 1B | c0282527 | 2,232 | omim | https://www.omim.org/entry/601539 | 2019-09-22T16:14:39 | {"mesh": ["D052919"], "omim": ["601539"], "icd-10": ["G60.1"], "orphanet": ["772", "44"], "synonyms": ["Alternative titles", "PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE)", "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)", "ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL", "REFSUM DISEASE... |
Localized heat contact urticaria
SpecialtyDermatology
Localized heat contact urticaria is a cutaneous condition, one of the rarest forms of urticaria, where within minutes of contact with heat from any source, itching and whealing occur at the precise site of contact, lasting up to 1 hour.[1]
## See also[edit... | Localized heat contact urticaria | None | 2,233 | wikipedia | https://en.wikipedia.org/wiki/Localized_heat_contact_urticaria | 2021-01-18T18:35:12 | {"wikidata": ["Q6664628"]} |
A sack of "pink grain". Note the labelling in Spanish, and the grain's distinctive orange-pink colour. Images like this were suppressed in state media.[1]
The 1971 Iraq poison grain disaster was a mass methylmercury poisoning incident that began in late 1971. Grain treated with a methylmercury fungicide and neve... | 1971 Iraq poison grain disaster | None | 2,234 | wikipedia | https://en.wikipedia.org/wiki/1971_Iraq_poison_grain_disaster | 2021-01-18T18:53:19 | {"wikidata": ["Q4284220"]} |
A number sign (#) is used with this entry because Bardet-Biedl syndrome-6 (BBS6) is caused by homozygous or compound heterozygous mutation in the MKKS gene (604896) on chromosome 20p12.
Mutations in the MKKS gene can also cause McKusick-Kaufman syndrome (236700).
Description
BBS6 is an autosomal recessive diso... | BARDET-BIEDL SYNDROME 6 | c0752166 | 2,235 | omim | https://www.omim.org/entry/605231 | 2019-09-22T16:11:28 | {"doid": ["0110128"], "mesh": ["D020788"], "omim": ["605231"], "orphanet": ["110"]} |
Developmental language disorder
SpecialtyNeurology
Developmental language disorder (DLD) is identified when a child has problems with language development that continue into school age and beyond. The language problems have a significant impact on everyday social interactions or educational progress, and occur... | Developmental language disorder | c0233715 | 2,236 | wikipedia | https://en.wikipedia.org/wiki/Developmental_language_disorder | 2021-01-18T18:49:38 | {"mesh": ["D007805"], "umls": ["C0233715", "C0454644", "C0241210"], "icd-10": ["F80.9"], "wikidata": ["Q2313089"]} |
Cryofibrinogenemic purpura
SpecialtyDermatology
Cryofibrinogenemic purpura is a skin condition that manifests as painful purpura with slow healing ulcerations and edema of both feet during winter months.[1]:823
## See also[edit]
* Cryofibrinogenemia
* Skin lesion
## References[edit]
1. ^ James, Willi... | Cryofibrinogenemic purpura | c1274291 | 2,237 | wikipedia | https://en.wikipedia.org/wiki/Cryofibrinogenemic_purpura | 2021-01-18T18:41:43 | {"umls": ["C1274291"], "wikidata": ["Q5190513"]} |
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.
*[v... | WT limb-blood syndrome | c1327917 | 2,238 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3466 | 2021-01-23T19:11:05 | {"gard": ["39"], "mesh": ["C536751"], "omim": ["194350"], "umls": ["C1327917"], "icd-10": ["D61.0"]} |
MacKinnon and Cohen (1977) concluded that total intestinal aganglionosis is distinct from Hirschsprung disease (142623) of either the long or short segment type and is inherited as an autosomal recessive. They found reports of 9 cases in 6 families. Each of 3 families had 2 affected sibs.
GI \- Aganglionosis, tot... | AGANGLIONOSIS, TOTAL INTESTINAL | c0345240 | 2,239 | omim | https://www.omim.org/entry/202550 | 2019-09-22T16:31:24 | {"mesh": ["C538058"], "omim": ["202550"]} |
A number sign (#) is used with this entry because of evidence that Ayme-Gripp syndrome (AYGRP) is caused by heterozygous mutation in the MAF gene (177075) on chromosome 16q23.
Description
Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, int... | AYME-GRIPP SYNDROME | c0795941 | 2,240 | omim | https://www.omim.org/entry/601088 | 2019-09-22T16:15:26 | {"mesh": ["C537933"], "omim": ["601088"], "orphanet": ["1272"], "synonyms": ["Alternative titles", "CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION"]} |
Sepiapterin reductase deficiency is a neurometabolic disorder characterized by a pattern of involuntary sustained muscle contractions known as dystonia. Other common features include axial hypotonia , oculogyric crises, and delays in motor and cognitive development. The condition is caused by mutations in the SPR gen... | Sepiapterin reductase deficiency | c0268468 | 2,241 | gard | https://rarediseases.info.nih.gov/diseases/10365/sepiapterin-reductase-deficiency | 2021-01-18T17:57:46 | {"mesh": ["C562657"], "omim": ["612716"], "umls": ["C0268468"], "orphanet": ["70594"], "synonyms": ["SPR deficiency", "DYT/PARK-SPR", "Dopa-responsive dystonia due to sepiapterin reductase deficiency", "SR-deficient DRD"]} |
Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Pati... | Visceral calciphylaxis | None | 2,242 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280068 | 2021-01-23T19:13:10 | {"icd-10": ["E83.5"]} |
A number sign (#) is used with this entry because Rubinstein-Taybi syndrome-1 (RSTS1) is caused by heterozygous mutation in the gene encoding the transcriptional coactivator CREB-binding protein (CREBBP; 600140) on chromosome 16p13.
Description
Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome cha... | RUBINSTEIN-TAYBI SYNDROME 1 | c0035934 | 2,243 | omim | https://www.omim.org/entry/180849 | 2019-09-22T16:35:06 | {"doid": ["1933"], "mesh": ["D012415"], "omim": ["180849"], "orphanet": ["353277", "783"], "synonyms": ["RSTS", "Alternative titles", "BROAD THUMB-HALLUX SYNDROME", "BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION", "RUBINSTEIN SYNDROME"], "genereviews": ["NBK1526"]} |
A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disabi... | Encephalocraniocutaneous lipomatosis | c0406612 | 2,244 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2396 | 2021-01-23T18:50:57 | {"gard": ["2108"], "mesh": ["C535736"], "omim": ["613001"], "umls": ["C0406612"], "icd-10": ["E88.2"], "synonyms": ["Haberland syndrome"]} |
Epilepsy syndrome characterised by seizures preceded by isolated disturbances of a cerebral function
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Find sources: "Focal seizure" – ... | Focal seizure | c0014547 | 2,245 | wikipedia | https://en.wikipedia.org/wiki/Focal_seizure | 2021-01-18T18:54:08 | {"mesh": ["D004828"], "umls": ["C0014547", "C0234974"], "icd-9": ["345.5", "345.4"], "icd-10": ["G40.2", "G40.0"], "wikidata": ["Q7140388"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to prostate cancer/brain cancer is associated with somatic mutation in the EPHB2 gene (600997) on chromosome 1p36.
Mapping
Because an excess of cases of primary brain cancer has been observed in some studies of families with a hig... | PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY | c2931456 | 2,246 | omim | https://www.omim.org/entry/603688 | 2019-09-22T16:12:45 | {"mesh": ["C537243"], "omim": ["603688"], "orphanet": ["1331"], "synonyms": ["Alternative titles", "PCBC", "CAPB"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to Hirschsprung disease (HSCR4) is associated with variation in the EDN3 gene (131242) on chromosome 20q13.
Description
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is charac... | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 | c0019569 | 2,247 | omim | https://www.omim.org/entry/613712 | 2019-09-22T15:57:46 | {"mesh": ["D006627"], "omim": ["613712"], "orphanet": ["388"]} |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with bro... | Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | c4540367 | 2,248 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=494439 | 2021-01-23T17:13:45 | {"omim": ["617763"], "synonyms": ["Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome"]} |
For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 (302500).
Clinical Features
Schmidley et al. (1987) described an X-linked disorder of the central nervous system characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotrop... | SPINOCEREBELLAR ATAXIA, X-LINKED 3 | c1844936 | 2,249 | omim | https://www.omim.org/entry/301790 | 2019-09-22T16:18:46 | {"mesh": ["C537315"], "omim": ["301790"], "orphanet": ["85297"], "synonyms": ["Alternative titles", "SCAX3", "ATAXIA-DEAFNESS SYNDROME, X-LINKED"]} |
Abnormal form of pregnancy (human disorder)
Molar pregnancy
Other namesVesicular mole, Hydatid mole, Hydatidiform mole
Histopathologic image of hydatidiform mole (complete type). H & E stain.
SpecialtyObstetrics
Molar pregnancy is an abnormal form of pregnancy in which a non-viable fertilized egg implants... | Molar pregnancy | c1135868 | 2,250 | wikipedia | https://en.wikipedia.org/wiki/Molar_pregnancy | 2021-01-18T18:37:35 | {"gard": ["10263"], "mesh": ["D006828", "D031901"], "umls": ["C0278796", "C1135868", "C0020217"], "orphanet": ["99927"], "wikidata": ["Q881855"]} |
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
## Epidemiology
It has been described in 46 patients to date.
## Clinical description
The clinical phenotype... | 1q21.1 microdeletion syndrome | c2675897 | 2,251 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=250989 | 2021-01-23T19:10:01 | {"gard": ["10813"], "mesh": ["C567291"], "omim": ["612474"], "umls": ["C2675897"], "icd-10": ["Q93.5"], "synonyms": ["Del(1)(q21)", "Monosomy 1q21.1"]} |
Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion.
## Epidemiology
Approximately 140 cases have been reported worldwide, with a higher prevalence for male adults of Asian origin and subjects affected by systemic diseases such as rheumatoid arthritis. Some cases of IPT of the liver have ... | Inflammatory pseudotumor of the liver | c1333967 | 2,252 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90003 | 2021-01-23T17:45:46 | {"icd-10": ["K75.8"]} |
This article does not cite any sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Mesothelial hyperplasia" – news · newspapers · books · scholar · JSTOR (February 2014) (Learn how and when to remove this template messag... | Mesothelial hyperplasia | c0333987 | 2,253 | wikipedia | https://en.wikipedia.org/wiki/Mesothelial_hyperplasia | 2021-01-18T18:50:15 | {"umls": ["C0333987"], "wikidata": ["Q16963363"]} |
A number sign (#) is used with this entry because of evidence that distal arthrogryposis type 7 (DA7), also known as trismus-pseudocamptodactyly syndrome, is caused by heterozygous mutation in the MYH8 gene (160741) on chromosome 17p13.
For a phenotypic description and a discussion of genetic heterogeneity of distal... | ARTHROGRYPOSIS, DISTAL, TYPE 7 | c0265226 | 2,254 | omim | https://www.omim.org/entry/158300 | 2019-09-22T16:37:59 | {"doid": ["0050646"], "mesh": ["C535857"], "omim": ["158300"], "orphanet": ["3377"], "synonyms": ["Alternative titles", "TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME", "MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS", "HECHT SYNDROME"]} |
A number sign (#) is used with this entry because of evidence that patent ductus arteriosus-2 (PDA2) is caused by heterozygous mutation in the TFAP2B gene (601601) on chromosome 6p12.
Mutation in TFAP2B also causes Char syndrome (CHAR; 169100), in which affected individuals exhibit facial dysmorphism and hand abnorm... | PATENT DUCTUS ARTERIOSUS 2 | c4284595 | 2,255 | omim | https://www.omim.org/entry/617035 | 2019-09-22T15:47:09 | {"omim": ["617035"], "orphanet": ["466729"], "synonyms": []} |
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
## Epidemiology
Prevalence of IVIC is not known. To date, four affected families fro... | IVIC syndrome | c1327918 | 2,256 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2307 | 2021-01-23T18:22:10 | {"gard": ["269"], "mesh": ["C535544"], "omim": ["147750"], "umls": ["C1327918"], "icd-10": ["Q71.8"], "synonyms": ["Oculo-oto-radial syndrome", "Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"]} |
For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see ARMD1 (603075).
Mapping
Majewski et al. (2003) studied 70 families with age-related macular degeneration (ARMD), ranging from small nuclear families to extended multigenerational pedigrees, with 344 affec... | MACULAR DEGENERATION, AGE-RELATED, 10 | c1969108 | 2,257 | omim | https://www.omim.org/entry/611488 | 2019-09-22T16:03:18 | {"mesh": ["C566935"], "omim": ["611488"]} |
X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are char... | X-linked mendelian susceptibility to mycobacterial diseases | c1970879 | 2,258 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319605 | 2021-01-23T19:11:19 | {"mesh": ["C567070"], "omim": ["300636", "300645"], "icd-10": ["D84.8"], "synonyms": ["X-linked MSMD"]} |
Ski sickness or Häusler's disease is a form of motion sickness which is suffered by some skiers when weather conditions are bad. Poor visibility in heavy fog can bring on the condition as well as psychological factors such as fear of heights or fear of mountains. High speed and falling may also contribute as when des... | Ski sickness | None | 2,259 | wikipedia | https://en.wikipedia.org/wiki/Ski_sickness | 2021-01-18T19:04:59 | {"wikidata": ["Q7534959"]} |
Farsightedness, also known as hyperopia, is an eye condition that causes blurry near vision. People who are farsighted have more trouble seeing things that are close up (such as when reading or using a computer) than things that are far away (such as when driving).
For normal vision, light passes through the cle... | Farsightedness | c1855925 | 2,260 | medlineplus | https://medlineplus.gov/genetics/condition/farsightedness/ | 2021-01-27T08:24:56 | {"mesh": ["C565497"], "omim": ["238950"], "synonyms": []} |
A rare drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis.
## Epidemiology
Approximately 1% of patients exposed to heparin for at least one week develop HIT, and approximately 50% of them will have thrombosis. HIT is slightly more common in fe... | Heparin-induced thrombocytopenia | c0272285 | 2,261 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3325 | 2021-01-23T18:30:55 | {"gard": ["2650"], "umls": ["C0272285"], "icd-10": ["D69.5"], "synonyms": ["HAT", "HIT", "Heparin-associated thrombocytopenia", "Heparin-induced thrombocytopenia type 2"]} |
Ethylmalonic encephalopathy
Ethylmalonic encephalopathy has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms... | Ethylmalonic encephalopathy | c1865349 | 2,262 | wikipedia | https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy | 2021-01-18T18:58:09 | {"gard": ["2198"], "mesh": ["C535737"], "umls": ["C1865349"], "orphanet": ["51188"], "wikidata": ["Q17119115"]} |
Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficienc... | Laubry-Pezzi syndrome | c4707235 | 2,263 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99094 | 2021-01-23T18:14:51 | {"icd-10": ["Q21.0"], "synonyms": ["VSD with aortic insufficiency", "Ventricular septal defect with aortic insufficiency"]} |
A number sign (#) is used with this entry because of evidence that congenital stationary night blindness type 1I (CSNB1I)is caused by compound heterozygous mutation in the GUCY2D gene (600179) on chromosome 17p13.
Description
Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness... | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I | None | 2,264 | omim | https://www.omim.org/entry/618555 | 2019-09-22T15:41:25 | {"omim": ["618555"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of vesicoureteral reflux, see VUR1 (193000).
Clinical Features
Briggs et al. (2010) ascertained a large sample of children with vesicoureteral reflux, including 151 girls and 70 boys from 98 Caucasian families. Among the 98 probands, uri... | VESICOURETERAL REFLUX 6 | c3280441 | 2,265 | omim | https://www.omim.org/entry/614319 | 2019-09-22T15:55:42 | {"doid": ["9620"], "omim": ["614319"], "orphanet": ["289365"], "synonyms": ["Familial VUR"]} |
The recommended dosage of Benadryl tablets for adults is 1 to 2 tablets every 4 to 6 hours,[1] and only 1 tablet every 4 to 6 hours for children under the age of 12.[2]
The Benadryl challenge is an internet challenge which emerged in 2020, and revolves around the deliberate consumption, abuse and overdose of the ant... | Benadryl challenge | None | 2,266 | wikipedia | https://en.wikipedia.org/wiki/Benadryl_challenge | 2021-01-18T18:43:11 | {"wikidata": ["Q100270830"]} |
Carcinoma of the penis
SpecialtyOncology
Frequency93,850 in 2018 [1]
Deaths15,138 (2018) [1]
Penile cancer is cancer that develops in the skin or tissues of the penis. Symptoms may include abnormal growth, an ulcer or sore on the skin of the penis, and bleeding or foul smelling discharge.[2]
Risk fact... | Penile cancer | c0153601 | 2,267 | wikipedia | https://en.wikipedia.org/wiki/Penile_cancer | 2021-01-18T18:45:09 | {"mesh": ["D010412"], "umls": ["C0153601", "C0153600"], "orphanet": ["398043"], "wikidata": ["Q1342955"]} |
A number sign (#) is used with this entry because of evidence that distal myopathy with anterior tibial onset is caused by homozygous mutation in the gene encoding dysferlin (DYSF; 603009) on chromosome 2p13.
Mutations in the DYSF gene also cause Miyoshi myopathy (254130) and limb-girdle muscular dystrophy type ... | MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET | c1847532 | 2,268 | omim | https://www.omim.org/entry/606768 | 2019-09-22T16:10:03 | {"doid": ["0111187"], "mesh": ["C564664"], "omim": ["606768"], "orphanet": ["178400"]} |
Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsu... | Familial papillary or follicular thyroid carcinoma | c4225426 | 2,269 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319487 | 2021-01-23T18:45:40 | {"gard": ["8488"], "omim": ["188470", "188550", "603386", "603744", "606240", "616534", "616535"], "icd-10": ["C73"], "synonyms": ["FNMTC", "Familial pure nonmedullary thyroid carcinoma"]} |
A number sign (#) is used with this entry because of evidence that hypomyelinating leukodystrophy-16 (HLD16) is caused by heterozygous mutation in the TMEM106B gene (613413) on chromosome 7p21.
Description
Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypot... | LEUKODYSTROPHY, HYPOMYELINATING, 16 | c4693779 | 2,270 | omim | https://www.omim.org/entry/617964 | 2019-09-22T15:44:12 | {"omim": ["617964"]} |
Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary (see this term) occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.
*[v]: View this template
*[t]: Discuss ... | Malignant Sertoli-Leydig cell tumor of the ovary | c0036769 | 2,271 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99916 | 2021-01-23T18:13:45 | {"gard": ["5495"], "mesh": ["D012707"], "umls": ["C0003810", "C0036769", "C0206723"], "icd-10": ["C56"], "synonyms": ["Androblastoma", "Arrhenoblastoma", "Ovarian Sertoli-Leydig cell cancer", "Ovarian malignant Sertoli-Leydig cell tumor", "Virilizing ovarian tumor"]} |
This article is about the infection by the adult worms. For the organism, see Taenia (genus).
Parasitic disease due to infection with tapeworms belonging to the genus Taenia
Taeniasis
The life cycle of Taenia saginata, the beef tapeworm
SpecialtyInfectious disease
SymptomsNone, weight loss, abdominal pain[1] ... | Taeniasis | c0152073 | 2,272 | wikipedia | https://en.wikipedia.org/wiki/Taeniasis | 2021-01-18T18:46:59 | {"mesh": ["D013622"], "umls": ["C0152073"], "wikidata": ["Q1475667"]} |
Spot blotch
Causal agentsCochliobolus sativus
HostsBarley
EPPO CodeCOCHSA
Spot blotch is a disease of barley caused by Cochliobolus sativus. The disease is found everywhere that barley is grown, but only causes significant yield losses in warm, humid climates.[1][2]
## Contents
* 1 Symptoms
* 2 D... | Spot blotch (barley) | None | 2,273 | wikipedia | https://en.wikipedia.org/wiki/Spot_blotch_(barley) | 2021-01-18T19:01:32 | {"wikidata": ["Q7580044"]} |
## Summary
### Clinical characteristics.
GARS1-associated axonal neuropathy (Charcot-Marie-Tooth neuropathy type 2D / distal spinal muscular atrophy V [CMT2D/dSMA-V]) is characterized by adolescent or early-adult onset of weakness in the hands that may be preceded by transient cramping and pain in the hands on expo... | GARS1-Associated Axonal Neuropathy | None | 2,274 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1242/ | 2021-01-18T21:24:55 | {"synonyms": []} |
A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensati... | Isolated congenital entropion | None | 2,275 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519386 | 2021-01-23T17:24:23 | {} |
Idiopathic scrotal calcinosis
Other namesIdiopathic calcified nodules of the scrotum[1]
SpecialtyDermatology
Idiopathic scrotal calcinosis is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus occurring on the scrotum.[2]:528 However, the ... | Idiopathic scrotal calcinosis | c1274902 | 2,276 | wikipedia | https://en.wikipedia.org/wiki/Idiopathic_scrotal_calcinosis | 2021-01-18T18:32:52 | {"umls": ["C1274902"], "wikidata": ["Q17140373"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (January 2020) (Learn how and when to remove this template message)
Metagonimiasis
Spe... | Metagonimiasis | c0025530 | 2,277 | wikipedia | https://en.wikipedia.org/wiki/Metagonimiasis | 2021-01-18T18:57:57 | {"gard": ["9745"], "mesh": ["D014201"], "umls": ["C0025530"], "wikidata": ["Q11542703"]} |
Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protru... | Antley Bixler syndrome | c2936791 | 2,278 | gard | https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome | 2021-01-18T18:02:05 | {"mesh": ["D054882"], "omim": ["201750", "207410"], "orphanet": ["83"], "synonyms": ["Trapezoidocephaly synostosis syndrome", "Multisynostotic osteodysgenesis with long bone fractures", "Osteodysgenesis, multisynostotic with fractures"]} |
A number sign (#) is used with this entry because Pallister-Killian syndrome (PKS) is a dysmorphic condition caused by mosaicism for tetrasomy of chromosome 12p.
Description
Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most ... | PALLISTER-KILLIAN SYNDROME | c0265449 | 2,279 | omim | https://www.omim.org/entry/601803 | 2019-09-22T16:14:21 | {"mesh": ["C538105"], "omim": ["601803"], "orphanet": ["884"], "synonyms": ["Alternative titles", "TETRASOMY 12p, MOSAIC", "ISOCHROMOSOME 12p SYNDROME"]} |
Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. Common features include hypotonia; progressive mu... | Congenital muscular dystrophy | c0699743 | 2,280 | gard | https://rarediseases.info.nih.gov/diseases/9138/congenital-muscular-dystrophy | 2021-01-18T18:01:08 | {"umls": ["C0699743"], "orphanet": ["97242"], "synonyms": ["Congenital MD", "CMD", "MDC"]} |
A number sign (#) is used with this entry because Lesch-Nyhan syndrome is caused by mutation in the HPRT gene (308000), encoding hypoxanthine guanine phosphoribosyltransferase, on chromosome Xq26.
Clinical Features
The features of the Lesch-Nyhan syndrome are mental retardation, spastic cerebral palsy, choreoatheto... | LESCH-NYHAN SYNDROME | c0023374 | 2,281 | omim | https://www.omim.org/entry/300322 | 2019-09-22T16:20:36 | {"doid": ["1919"], "mesh": ["D007926"], "omim": ["300322"], "icd-10": ["E79.1"], "orphanet": ["510"], "synonyms": ["Alternative titles", "HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY", "HPRT1 DEFICIENCY", "HPRT DEFICIENCY", "HPRT DEFICIENCY, COMPLETE"], "genereviews": ["NBK1149"]} |
Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delay... | Craniometaphyseal dysplasia, autosomal dominant | c1852502 | 2,282 | gard | https://rarediseases.info.nih.gov/diseases/1581/craniometaphyseal-dysplasia-autosomal-dominant | 2021-01-18T18:01:04 | {"mesh": ["C565145"], "omim": ["123000"], "orphanet": ["1522"], "synonyms": ["CMDJ", "CMDD", "Craniometaphyseal dysplasia Jackson type", "CMD"]} |
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
## Epidemiology
... | Cowden syndrome | c0018553 | 2,283 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=201 | 2021-01-23T17:01:47 | {"gard": ["6202"], "mesh": ["D006223"], "omim": ["158350", "612359", "615106", "615107", "615108", "615109", "616858"], "umls": ["C0018553"], "icd-10": ["Q85.8"], "synonyms": ["Cowden disease", "Multiple hamartoma syndrome"]} |
A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetalde... | Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome | None | 2,284 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289478 | 2021-01-23T17:22:42 | {"synonyms": ["PASH syndrome"]} |
A number sign (#) is used with this entry because of evidence that familial cylindromatosis is caused by heterozygous mutation in the CYLD gene (605018) on chromosome 16q12.
See also Brooke-Spiegler syndrome (BRSS; 605041) and multiple familial trichoepithelioma-1 (MFT1; 601606), which are allelic disorders with ove... | CYLINDROMATOSIS, FAMILIAL | c1851526 | 2,285 | omim | https://www.omim.org/entry/132700 | 2019-09-22T16:41:30 | {"omim": ["132700"], "orphanet": ["211", "79493"], "synonyms": ["Alternative titles", "ANCELL-SPIEGLER CYLINDROMAS", "'TURBAN TUMOR' SYNDROME", "CYLINDROMAS, DERMAL ECCRINE"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive cutis laxa type IC (ARCL1C) is caused by homozygous or compound heterozygous mutation in the LTBP4 gene (604710) on chromosome 19q13.
Description
Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled ... | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC | c2750804 | 2,286 | omim | https://www.omim.org/entry/613177 | 2019-09-22T15:59:23 | {"doid": ["0070139"], "mesh": ["C567716"], "omim": ["613177"], "orphanet": ["221145"], "synonyms": ["Alternative titles", "CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES", "URBAN-RIFKIN-DAVIS SYNDROME"], "genereviews": ["NBK343782"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to paroxysmal nocturnal hemoglobinuria-2 (PNH2) can be conferred by heterozygous mutation in the PIGT gene (610272) on chromosome 20q13. A somatic mutation in the PIGT gene in addition to the germline mutation appears to be necessary fo... | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 | c0024790 | 2,287 | omim | https://www.omim.org/entry/615399 | 2019-09-22T15:52:14 | {"doid": ["0060284"], "mesh": ["D006457"], "omim": ["615399"], "orphanet": ["447"]} |
Microscopic polyangiitis
Other namesMicropolyangiitis
SpecialtyImmunology, rheumatology
Microscopic polyangiitis is an ill-defined autoimmune disease characterized by a systemic, pauci-immune, necrotizing, small-vessel vasculitis without clinical or pathological evidence of necrotizing granulomatous inflamma... | Microscopic polyangiitis | c2347126 | 2,288 | wikipedia | https://en.wikipedia.org/wiki/Microscopic_polyangiitis | 2021-01-18T19:04:41 | {"gard": ["3652"], "mesh": ["D055953"], "umls": ["C0343192"], "icd-9": ["446.0"], "icd-10": ["M31.7"], "orphanet": ["727"], "synonyms": ["MPA", "Micropolyangiitis", "Microscopic polyarteritis"], "wikidata": ["Q1934069"]} |
Type of urinary tract infection
Ureaplasma urealyticum infection
Typesinfectious disease
Ureaplasma urealyticum infection is a type of urinary tract infection that can be sexually transmitted. It can also be passed from mother to infant during birth.[1] It is caused by the bacterium Ureaplasma urealyticum... | Ureaplasma urealyticum infection | None | 2,289 | wikipedia | https://en.wikipedia.org/wiki/Ureaplasma_urealyticum_infection | 2021-01-18T18:58:36 | {"wikidata": ["Q25091439"]} |
A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this templ... | ITM2B amyloidosis | c1861735 | 2,290 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=439254 | 2021-01-23T18:59:42 | {"mesh": ["C538209"], "omim": ["117300", "176500"], "icd-10": ["E85.4+", "I68.0*"], "synonyms": ["Familial cerebral amyloid angiopathy", "ITM2B-related amyloidosis", "ITM2B-related cerebral amyloid angiopathy"]} |
A number sign (#) is used with this entry because of evidence that colobomatous macrophthalmia with microcornea (MACOM) is a contiguous gene deletion syndrome resulting from an approximately 22-kb heterozygous deletion on chromosome 2p22.2, involving the CRIM1 (606189) and FEZ2 (604826) genes.
Clinical Features
Bat... | MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA | c1865286 | 2,291 | omim | https://www.omim.org/entry/602499 | 2019-09-22T16:13:39 | {"mesh": ["C566533"], "omim": ["602499"], "orphanet": ["468672"], "synonyms": ["MACOM syndrome"]} |
## Summary
### Clinical characteristics.
Variegate porphyria (VP) is both a cutaneous porphyria (with chronic blistering skin lesions) and an acute porphyria (with severe episodic neurovisceral symptoms). The most common manifestation of VP is adult-onset cutaneous blistering lesions (subepidermal vesicles, bullae,... | Variegate Porphyria | c0162532 | 2,292 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK121283/ | 2021-01-18T20:50:51 | {"mesh": ["D046350"], "synonyms": ["Porphyria Variegata"]} |
A number sign (#) is used with this entry because this form of nonspecific X-linked mental retardation is caused by mutation in the FTSJ1 gene (300499).
Clinical Features
Nonspecific X-linked mental retardation (MRX) includes several distinct entities with mental retardation but without additional distinguishing fe... | MENTAL RETARDATION, X-LINKED 9 | c2931498 | 2,293 | omim | https://www.omim.org/entry/309549 | 2019-09-22T16:17:48 | {"doid": ["0050776"], "mesh": ["C567906"], "omim": ["309549"], "orphanet": ["777"], "synonyms": ["Alternative titles", "MENTAL RETARDATION, X-LINKED 44"]} |
A number sign (#) is used with this entry because of evidence that this phenotype results from mutation in the RAD50 gene (604040).
Clinical Features
Barbi et al. (1991) reported a microcephalic, growth-retarded newborn girl without major anomalies who had chromosome instability in lymphocytes and fibroblasts. Freq... | NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER | c2751318 | 2,294 | omim | https://www.omim.org/entry/613078 | 2019-09-22T15:59:43 | {"mesh": ["C567767"], "omim": ["613078"], "orphanet": ["240760"], "synonyms": ["Alternative titles", "NBS-LIKE DISORDER", "RAD50 DEFICIENCY", "MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY"]} |
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral.
*[v]: View this template
*[t]: ... | Postaxial polydactyly type B | c1868120 | 2,295 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93335 | 2021-01-23T17:02:15 | {"mesh": ["C562429"], "omim": ["174200"], "umls": ["C1868120"], "icd-10": ["Q69.0"]} |
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual dis... | Hypertrichosis cubiti | c1841696 | 2,296 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2220 | 2021-01-23T18:35:06 | {"gard": ["143"], "mesh": ["C535618"], "omim": ["139600"], "umls": ["C1841696"], "icd-10": ["Q84.2"], "synonyms": ["Hairy elbows syndrome", "MacDermot-Patton-Williams syndrome"]} |
## Clinical Features
Irons et al. (1996) reported 2 brothers with lymphedema of the lower limbs, hydrocele, atrial septal defects (ASD), epicanthus, and wide nasal bridge. Their stillborn sister, who was born after a pregnancy complicated by preeclampsia, had severe hydrops fetalis, omphalocele, ASD, and polyspleni... | LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES | c2677167 | 2,297 | omim | https://www.omim.org/entry/601927 | 2019-09-22T16:14:09 | {"mesh": ["C567398"], "omim": ["601927"], "orphanet": ["86915"], "synonyms": ["Alternative titles", "IRONS-BIANCHI SYNDROME", "LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND CHARACTERISTIC FACIES"]} |
For other uses, see Dripping (disambiguation).
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: "Dripping" – news · newspapers · books · scholar · JSTOR (August 2009) (... | Dripping | None | 2,298 | wikipedia | https://en.wikipedia.org/wiki/Dripping | 2021-01-18T18:47:27 | {"wikidata": ["Q17105036"]} |
intestinopsthy
SpecialtyGastroenterology
Enteropathy refers to any pathology of the intestine.[1] Although enteritis specifically refers to an inflammation of the intestine, and is thus a more specific term than "enteropathy", the two phrases are sometimes used interchangeably.
## Contents
* 1 Types
... | Enteropathy | c0021831 | 2,299 | wikipedia | https://en.wikipedia.org/wiki/Enteropathy | 2021-01-18T19:06:53 | {"mesh": ["D007410"], "umls": ["C0021831"], "orphanet": ["117569"], "wikidata": ["Q3055380"]} |
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