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CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epic... | CK syndrome | c3151781 | 1,500 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251383 | 2021-01-23T17:39:36 | {"omim": ["300831"], "synonyms": ["X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"]} |
Nisan et al. (1988) described agenesis of 5 cervical vertebrae in a 7-year-old son of first-cousin parents. The patient had a webbed neck, and a diagnosis of Klippel-Feil syndrome was made before x-rays were taken.
Spine \- Cervical vertebrae agenesis Neck \- Webbed Inheritance \- Autosomal recessive ▲ Close
*... | CERVICAL VERTEBRAE, AGENESIS OF | c0432160 | 1,501 | omim | https://www.omim.org/entry/214290 | 2019-09-22T16:29:47 | {"mesh": ["C562952"], "omim": ["214290"]} |
Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in t... | Ectodermal dysplasia-blindness syndrome | c1849332 | 1,502 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1806 | 2021-01-23T18:57:44 | {"gard": ["2045"], "mesh": ["C535865"], "omim": ["268320"], "umls": ["C1849332"], "icd-10": ["Q87.8"]} |
The 1951 Pont-Saint-Esprit mass poisoning, also known as Le Pain Maudit, was a mass poisoning on 15 August 1951, in the small town of Pont-Saint-Esprit in southern France. More than 250 people were involved, including 50 people interned in asylums and 7 deaths. A foodborne illness was suspected, and among these it wa... | 1951 Pont-Saint-Esprit mass poisoning | None | 1,503 | wikipedia | https://en.wikipedia.org/wiki/1951_Pont-Saint-Esprit_mass_poisoning | 2021-01-18T19:10:29 | {"wikidata": ["Q13420313"]} |
Sexually transmitted disease caused by the invasive serovars L1, L2, L2a or L3 of Chlamydia trachomatis
This article is about the sexually transmitted disease caused by certain types of chlamydia. For the ulcerative disease caused by Klebsiella granulomatis, see Granuloma inguinale.
Lymphogranuloma venereum
L... | Lymphogranuloma venereum | c0024286 | 1,504 | wikipedia | https://en.wikipedia.org/wiki/Lymphogranuloma_venereum | 2021-01-18T18:59:46 | {"gard": ["9545"], "mesh": ["D008219"], "umls": ["C0024286"], "icd-10": ["A55"], "wikidata": ["Q694552"]} |
Davies et al. (1994) and Cordell et al. (1995) observed linkage between the X chromosome and type I diabetes. Cucca et al. (1998) examined the male-female bias in type I diabetes. Contrary to assumption, the male:female (M:F) ratio in patients with IDDM is not 1. Karvonen et al. (1997) found that high-incidence c... | DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO | c1848042 | 1,505 | omim | https://www.omim.org/entry/300136 | 2019-09-22T16:20:50 | {"omim": ["300136"], "synonyms": ["Alternative titles", "IDDMX", "INSULIN-DEPENDENT DIABETES MELLITUS, X-LINKED, SUSCEPTIBILITY TO"]} |
Meromelia is a birth defect characterized by the lacking of a part, but not all, of one or more limbs with the presence of a hand or foot. It results in a shrunken and deformed extremity. [1]
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 Etymology
* 5 See also
* 6 References
## Cause[edit]
Suc... | Meromelia | c0265549 | 1,506 | wikipedia | https://en.wikipedia.org/wiki/Meromelia | 2021-01-18T18:33:35 | {"wikidata": ["Q6819940"]} |
Gastrointestinal perforation
Other namesRuptured bowel,[1] gastrointestinal rupture
Free air under the right diaphragm from a perforated bowel.
SpecialtyGastroenterology, emergency medicine
SymptomsAbdominal pain, tenderness[2]
ComplicationsSepsis, abscess[2]
Usual onsetSudden or more gradual[2]
Cau... | Gastrointestinal perforation | c0151664 | 1,507 | wikipedia | https://en.wikipedia.org/wiki/Gastrointestinal_perforation | 2021-01-18T19:06:47 | {"icd-9": ["863.9", "569.83"], "icd-10": ["K63.1"], "wikidata": ["Q279324"]} |
Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to smal... | Livedoid vasculopathy | c0857794 | 1,508 | gard | https://rarediseases.info.nih.gov/diseases/12784/livedoid-vasculopathy | 2021-01-18T17:59:21 | {"icd-9": ["709.1"], "synonyms": ["Segmental hyalinizing vasculopathy", "Livedo vasculitis", "Livedoid vasculitis", "Livedo reticularis with summer ulcerations", "Livedo reticularis with winter ulcerations"]} |
A number sign (#) is used with this entry because of evidence that early-onset neurodegeneration with choreoathetoid movements and microcytic anemia (NDCAMA) is caused by compound heterozygous mutation in the iron responsive element-binding protein-2 gene (IREB2; 147582) on chromosome 15q25. One such patient has been... | NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA | None | 1,509 | omim | https://www.omim.org/entry/618451 | 2019-09-22T15:41:53 | {"omim": ["618451"]} |
A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, m... | Familial cavitary optic disc anomaly | c1969063 | 1,510 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464760 | 2021-01-23T18:59:36 | {"mesh": ["C566924"], "omim": ["611543"], "synonyms": ["Familial CODA"]} |
A number sign (#) is used with this entry because non-Hodgkin lymphoma is associated with somatic mutations in a number of genes, including CASP10 (601762), ATM (607585), RAD54L (603615), BRAF (164757), CARD11 (607210), and RAD54B (604289).
Inheritance
Wiernik et al. (2000) analyzed 11 published reports of multigen... | LYMPHOMA, NON-HODGKIN, FAMILIAL | c0024305 | 1,511 | omim | https://www.omim.org/entry/605027 | 2019-09-22T16:11:38 | {"doid": ["0060060"], "mesh": ["D008228"], "omim": ["605027"], "orphanet": ["547"], "synonyms": ["Alternative titles", "NON-HODGKIN LYMPHOMA"]} |
Alopecia totalis
A woman with alopecia totalis
SpecialtyDermatology
Alopecia totalis is the loss of all skull and facial hair. Its causes are unclear, but believed to be autoimmune. Research suggests there may be a genetic component linked to developing alopecia totalis; the presence of DRB1*0401 and DQB1*03... | Alopecia totalis | c0263504 | 1,512 | wikipedia | https://en.wikipedia.org/wiki/Alopecia_totalis | 2021-01-18T19:06:41 | {"gard": ["613"], "umls": ["C0263504"], "icd-10": ["L63.0"], "orphanet": ["700"], "wikidata": ["Q4734614"]} |
A number sign (#) is used with this entry because of evidence that keratoconus-9 (KCTN9) is caused by heterozygous mutation in the TUBA3D gene (617878) on chromosome 2q21.
Description
Keratoconus-9, a degenerative corneal disease with onset during adolescence, is characterized by corneal ectasia, thinning, and ... | KERATOCONUS 9 | c4693660 | 1,513 | omim | https://www.omim.org/entry/617928 | 2019-09-22T15:44:22 | {"omim": ["617928"]} |
Skeletal fluorosis
Fluorosis victim of the industrial city of Raigarh, Chhattisgarh
SpecialtyRheumatology
Skeletal fluorosis is a bone disease caused by excessive accumulation of fluoride leading to weakened bones.[1] In advanced cases, skeletal fluorosis causes painful damage to bones and joints.
## Conten... | Skeletal fluorosis | c0410447 | 1,514 | wikipedia | https://en.wikipedia.org/wiki/Skeletal_fluorosis | 2021-01-18T19:00:02 | {"icd-9": ["733.9"], "icd-10": ["M85.1"], "wikidata": ["Q3266880"]} |
A number sign (#) is used with this entry because of evidence that 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN), also referred to as 3-methylglutaconic aciduria type VII (MGCA7), is caused by homozygous or compound heterozygous mutation in the CLPB gene (616254) on... | 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA | c4225393 | 1,515 | omim | https://www.omim.org/entry/616271 | 2019-09-22T15:49:25 | {"doid": ["0110003"], "omim": ["616271"], "orphanet": ["445038"], "synonyms": ["Alternative titles", "3-METHYLGLUTACONIC ACIDURIA, TYPE VII", "MGA7", "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome"], "genereviews": ["NBK396257"]} |
A rare vascular anomaly characterized by congenital narrowing of the inferior vena cava mostly at the diaphragmatic level or hepatic segment, with or without web formation. Patients may present with deep vein thrombosis below the obstructed segment, lower extremity swellings, pain, and varices, abdominal pain/varices... | Congenital stenosis of the inferior vena cava | c0265934 | 1,516 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99122 | 2021-01-23T16:59:52 | {"umls": ["C0265934", "C0340757"], "icd-10": ["Q26.0"], "synonyms": ["Congenital stenosis of the IVC", "Congenital stenosis of the inferior caval vein"]} |
A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a my... | Epithelioid hemangioendothelioma | c0206732 | 1,517 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157791 | 2021-01-23T18:40:53 | {"mesh": ["D018323"], "umls": ["C0206732"], "icd-10": ["D18.0"]} |
A number sign (#) is used with this entry because of evidence that X-linked hypoparathyroidism (HYPX) is caused by an interstitial deletion/insertion on chromosome Xq27.1, which may have a position effect on expression of SOX3 (313430).
Clinical Features
Peden (1960) reported a family in which multiple males had ne... | HYPOPARATHYROIDISM, X-LINKED | c1832648 | 1,518 | omim | https://www.omim.org/entry/307700 | 2019-09-22T16:18:10 | {"doid": ["11199"], "mesh": ["C537156"], "omim": ["307700"], "orphanet": ["2238", "2239"], "synonyms": ["Alternative titles", "PARATHYROID GLANDS, AGENESIS OF"]} |
Wilson et al. (1989) described the single case of a 2-year-old girl with virtual absence of body and scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and an unusual facial appearance consisting of dystopia canthorum, thickened frenulum giving an appearance of slight median cleft of the... | ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET | c1851851 | 1,519 | omim | https://www.omim.org/entry/129540 | 2019-09-22T16:42:01 | {"mesh": ["C565067"], "omim": ["129540"]} |
Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neona... | Infantile Refsum disease | c0282527 | 1,520 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=772 | 2021-01-23T17:49:51 | {"gard": ["4648"], "mesh": ["D052919"], "omim": ["202370", "266510", "601539", "614863", "614867", "614871", "614873", "614877", "614885", "614920", "617370"], "umls": ["C0282527"], "icd-10": ["G60.1"], "synonyms": ["IRD"]} |
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600.
Mapping
Soon after a form of autosomal dominant Parkinson disease was mapped to 4q21-q22 and was shown to be due to mutations in the alpha-synuclein gene (SNCA; 163890), genetic heterogeneity became apparent, as... | PARKINSON DISEASE 3, AUTOSOMAL DOMINANT | c1865581 | 1,521 | omim | https://www.omim.org/entry/602404 | 2019-09-22T16:13:49 | {"doid": ["0111250"], "mesh": ["C566552"], "omim": ["602404"], "orphanet": ["2828"], "synonyms": ["PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY", "Alternative titles", "YOPD", "Early-onset Parkinson disease"]} |
Rapid onset of confusion caused by alcohol withdrawal
"DTs" redirects here. For other uses, see DTS (disambiguation).
For other uses, see Delirium tremens (disambiguation).
Delirium tremens
An alcoholic man with delirium tremens on his deathbed, surrounded by his terrified family. The text "L'Alcool Tue" means "... | Delirium tremens | c0001957 | 1,522 | wikipedia | https://en.wikipedia.org/wiki/Delirium_tremens | 2021-01-18T18:40:10 | {"mesh": ["D000430"], "icd-9": ["291.0"], "icd-10": ["F10.4"], "wikidata": ["Q209647"]} |
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
## Epidemiology
Prevalence is unknown. To date, five cases have been reported.
## Clinical description
Patients present in childhood with growth retardation, mi... | Cernunnos-XLF deficiency | c1969799 | 1,523 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169079 | 2021-01-23T18:17:19 | {"mesh": ["C566970"], "omim": ["611291"], "icd-10": ["D81.1"], "synonyms": ["Cernunnos XLFD", "Cernunnos deficiency", "Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome", "NHEJ1 deficiency"]} |
A rare congenital malformation characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upp... | Poland syndrome | c0032357 | 1,524 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2911 | 2021-01-23T17:04:55 | {"gard": ["7412"], "mesh": ["D011045"], "omim": ["173800"], "umls": ["C0032357"], "icd-10": ["Q79.8"], "synonyms": ["Poland anomaly", "Poland sequence"]} |
A number sign (#) is used with this entry because some cases of Rothmund-Thomson syndrome (RTS) are caused by compound heterozygous mutation in the DNA helicase gene RECQL4 (603780) on chromosome 8q24.
Description
Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangie... | ROTHMUND-THOMSON SYNDROME | c0032339 | 1,525 | omim | https://www.omim.org/entry/268400 | 2019-09-22T16:22:32 | {"doid": ["2732"], "mesh": ["D011038"], "omim": ["268400"], "icd-10": ["Q82.8"], "orphanet": ["221016", "221008", "2909"], "synonyms": ["Poikiloderma of Rothmund-Thomson type 2", "RTS2", "RTS1", "Poikiloderma of Rothmund-Thomson type 1", "Alternative titles", "POIKILODERMA ATROPHICANS AND CATARACT"], "genereviews": ["N... |
## Summary
### Clinical characteristics.
CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhi... | CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia | None | 1,526 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK100239/ | 2021-01-18T21:37:27 | {"synonyms": ["CSF1R-Related ALSP"]} |
A number sign (#) is used with this entry because of evidence that cataract-18 (CTRCT18) is caused by homozygous mutation in the FYCO1 gene (607182) on chromosome 3p21.3.
Description
Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital... | CATARACT 18 | c0392557 | 1,527 | omim | https://www.omim.org/entry/610019 | 2019-09-22T16:05:15 | {"doid": ["0110238"], "mesh": ["C535342"], "omim": ["610019"], "icd-10": ["Q12.0"], "orphanet": ["98992", "91492", "98995", "98991"], "synonyms": ["CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2", "Alternative titles"]} |
Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (... | Charcot-Marie-Tooth disease type 4B2 | c1858278 | 1,528 | gard | https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2 | 2021-01-18T18:01:30 | {"mesh": ["C535421"], "omim": ["604563"], "umls": ["C1858278"], "orphanet": ["99956"], "synonyms": ["CMT 4B2", "Charcot Marie Tooth disease type 4B2", "CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2"]} |
A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.
#... | Familial isolated pituitary adenoma | c1863340 | 1,529 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314777 | 2021-01-23T18:48:51 | {"gard": ["10959"], "mesh": ["C566321"], "omim": ["102200", "600634"], "umls": ["C1863340"], "icd-10": ["D35.2"], "synonyms": ["FIPA"]} |
Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, puls... | Semicircular canal dehiscence syndrome | c4708600 | 1,530 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420402 | 2021-01-23T17:24:32 | {"icd-10": ["H83.8"], "synonyms": ["SCD syndrome"]} |
Purpura of the nail beds usually result from trauma, with causes of toe involvement including physical pressure on the toes, such as that seen in surfboarding or windsurfing in which one must maintain balance with the toes, or when exogenous pressure is exerted from poorly fitting shoes.[1]:791–2 Purpura beneath the ... | Purpura of the nail bed | None | 1,531 | wikipedia | https://en.wikipedia.org/wiki/Purpura_of_the_nail_bed | 2021-01-18T18:34:04 | {"wikidata": ["Q7261509"]} |
A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.
## Epidemiology
Liddle syndrome prevalence is unknown. The condition is considered rare with less than 80 families reported worldwide.
## Clinical description
The d... | Liddle syndrome | c0221043 | 1,532 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=526 | 2021-01-23T17:49:20 | {"gard": ["7381"], "mesh": ["D056929"], "omim": ["177200", "618114", "618126"], "umls": ["C0221043"], "icd-10": ["I15.1"], "synonyms": ["Pseudoaldosteronism", "Pseudohyperaldosteronism type 1"]} |
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. (July 2015) (Learn how and when to remove this template message)
Baggio–Yoshinari syndrome
Other namesBYS
SpecialtyInfectious disease
... | Baggio–Yoshinari syndrome | None | 1,533 | wikipedia | https://en.wikipedia.org/wiki/Baggio%E2%80%93Yoshinari_syndrome | 2021-01-18T19:06:08 | {"wikidata": ["Q20736850"]} |
Holt (1975) described hypothenar radial arches in 2 families and concluded that the inheritance is probably recessive.
Inheritance \- Autosomal recessive Skin \- Hypothenar radial arches \- Abnormal dermatoglyphics ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
... | DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH | c1857315 | 1,534 | omim | https://www.omim.org/entry/221780 | 2019-09-22T16:28:47 | {"omim": ["221780"]} |
Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydram... | Twin to twin transfusion syndrome | c2909036 | 1,535 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95431 | 2021-01-23T18:26:04 | {"gard": ["325"], "mesh": ["D005330"], "icd-10": ["O43.0"], "synonyms": ["Feto-fetal transfusion syndrome"]} |
Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and... | Segmental odontomaxillary dysplasia | c3698531 | 1,536 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=67039 | 2021-01-23T17:14:56 | {"icd-10": ["K00.4"]} |
Viral meningitis
Other namesAseptic meningitis
Viral meningitis causes inflammation of the meninges.
SpecialtyNeurology
Viral meningitis, also known as aseptic meningitis, is a type of meningitis due to a viral infection. It results in inflammation of the meninges (the membranes covering the brain and spin... | Viral meningitis | c0025297 | 1,537 | wikipedia | https://en.wikipedia.org/wiki/Viral_meningitis | 2021-01-18T19:06:14 | {"mesh": ["D008587"], "umls": ["C0025297"], "wikidata": ["Q3301664"]} |
Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with... | Charcot-Marie-Tooth disease type 4F | c3540453 | 1,538 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99952 | 2021-01-23T18:07:26 | {"gard": ["12441"], "omim": ["614895"], "icd-10": ["G60.0"], "synonyms": ["CMT4F"]} |
Hall (1965) described 5 families in which 14 cases of myxedema occurred in addition to the 5 probands. In 1 of these families, a case of thyrotoxicosis was also observed, and in each of 2 families a relative had nontoxic goiter. A sixth proband had a daughter with thyrotoxicosis. In the families of 32 other patients ... | MYXEDEMA | c0027145 | 1,539 | omim | https://www.omim.org/entry/255900 | 2019-09-22T16:24:38 | {"doid": ["11634"], "mesh": ["D009230"], "omim": ["255900"], "icd-10": ["E03.9"]} |
Abortion in Costa Rica is severely restricted by criminal law. Currently, abortions are allowed in Costa Rica only in order to preserve the life or physical health of the woman. Abortions are illegal in almost all cases, including when the pregnancy is a result of rape or incest and when the fetus suffers from medica... | Abortion in Costa Rica | None | 1,540 | wikipedia | https://en.wikipedia.org/wiki/Abortion_in_Costa_Rica | 2021-01-18T18:34:15 | {"wikidata": ["Q4668447"]} |
A number sign (#) is used with this entry because type A2 brachydactyly (BDA2) is caused by heterozygous mutation in the BMPR1B gene (603248) on chromosome 4q or in the GDF5 gene (601146) on chromosome 20q11. It can also be caused by heterozygous duplication of a proposed regulatory element on chromosome 20p12 th... | BRACHYDACTYLY, TYPE A2 | c1832702 | 1,541 | omim | https://www.omim.org/entry/112600 | 2019-09-22T16:44:07 | {"doid": ["0110965"], "mesh": ["C537089"], "omim": ["112600"], "orphanet": ["93396"], "synonyms": ["Alternative titles", "BRACHYMESOPHALANGY II", "MOHR-WRIEDT TYPE BRACHYDACTYLY"]} |
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.
## Epidemiology
Prevalence is unknown. Fewer than 80 patients affected by the disease have been ident... | Spinocerebellar ataxia type 15/16 | c1847725 | 1,542 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98769 | 2021-01-23T17:31:41 | {"gard": ["10477"], "mesh": ["C564685"], "omim": ["606658"], "icd-10": ["G11.2"], "synonyms": ["SCA15/16"]} |
Recombinant chromosome 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. Many children with recombinant chromosome 8 syndrome do not survive past early childhood, usually due to complications related to their... | Recombinant chromosome 8 syndrome | c0795822 | 1,543 | gard | https://rarediseases.info.nih.gov/diseases/9698/recombinant-chromosome-8-syndrome | 2021-01-18T17:58:00 | {"mesh": ["C535296"], "omim": ["179613"], "umls": ["C0795822"], "orphanet": ["96167"], "synonyms": ["Rec8 syndrome", "San Luis Valley recombinant chromosome 8 syndrome", "San Luis Valley syndrome"]} |
A number sign (#) is used with this entry because karyomegalic interstitial nephritis (KMIN) is caused by homozygous or compound heterozygous mutation in the FAN1 gene (613534) on chromosome 15q.
Description
Karyomegalic tubulointerstitial nephritis (KTN) is a rare kidney disease characterized clinically by onset i... | INTERSTITIAL NEPHRITIS, KARYOMEGALIC | c3553774 | 1,544 | omim | https://www.omim.org/entry/614817 | 2019-09-22T15:54:18 | {"doid": ["0060911"], "omim": ["614817"], "orphanet": ["401996"], "synonyms": ["KIN", "Systemic karyomegaly"]} |
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsi... | Distal 7q11.23 microdeletion syndrome | c3150999 | 1,545 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254351 | 2021-01-23T18:19:54 | {"omim": ["613729"], "icd-10": ["Q93.5"], "synonyms": ["Distal del(7)(q11.23)", "Distal monosomy 7q11.23"]} |
Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.
## Epidemiology
Prevalence still needs to be precisely determined but is es... | Hereditary hyperferritinemia-cataract syndrome | c1833213 | 1,546 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163 | 2021-01-23T18:43:45 | {"gard": ["2806"], "mesh": ["C538137"], "omim": ["600886"], "umls": ["C1833213"], "icd-10": ["H26.0"], "synonyms": ["Bonneau-Beaumont syndrome", "HHCS", "Hereditary hyperferritinemia with congenital cataracts"]} |
A number sign (#) is used with this entry because of evidence that X-linked mental retardation-72 (MRX72) is caused by hemizygous mutation in the RAB39B gene (300774) on chromosome Xq28.
Mutation in the RAB39B gene can also cause X-linked recessive mental retardation with early-onset Parkinson disease, known as Wais... | MENTAL RETARDATION, X-LINKED 72 | c2931498 | 1,547 | omim | https://www.omim.org/entry/300271 | 2019-09-22T16:20:35 | {"doid": ["0050776"], "mesh": ["C567906"], "omim": ["300271"], "orphanet": ["777"]} |
## Description
Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of th... | PREECLAMPSIA/ECLAMPSIA 1 | c0032914 | 1,548 | omim | https://www.omim.org/entry/189800 | 2019-09-22T16:32:28 | {"doid": ["10591"], "mesh": ["D011225"], "omim": ["189800"], "icd-10": ["O13", "O14", "O14.2", "O14.90", "O14.9"], "orphanet": ["275555"], "synonyms": ["Alternative titles", "PREG1", "PEE", "TOXEMIA OF PREGNANCY"]} |
Bruise on the pelvis from blunt trauma
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: "Hi... | Hip pointer | None | 1,549 | wikipedia | https://en.wikipedia.org/wiki/Hip_pointer | 2021-01-18T18:33:37 | {"wikidata": ["Q17143043"]} |
Hereditary antithrombin deficiency, also known as antithrombin III deficiency or AT III deficiency, is a disorder in which individuals are at increased risk for developing blood clots. The type of blood clots seen in individuals with this condition are typically clots that form in the deep veins of the leg (deep vein... | Hereditary antithrombin deficiency | c0272375 | 1,550 | gard | https://rarediseases.info.nih.gov/diseases/6148/hereditary-antithrombin-deficiency | 2021-01-18T18:00:04 | {"mesh": ["D020152"], "omim": ["613118"], "orphanet": ["82"], "synonyms": ["Hereditary thrombophilia due to congenital antithrombin deficiency", "Inherited antithrombin deficiency", "Congenital Antithrombin III Deficiency", "Antithrombin III Deficiency", "Hereditary thrombophilia due to congenital antithrombin 3 defici... |
For a general phenotypic description and a discussion of genetic heterogeneity of glioma, see GLM1 (137800).
Mapping
Working from the hypothesis that coinheritance of low-risk variants contributes to the 2-fold increased risk of glioma in relatives of individuals with primary brain tumors, Shete et al. (2009) condu... | GLIOMA SUSCEPTIBILITY 6 | c0017638 | 1,551 | omim | https://www.omim.org/entry/613031 | 2019-09-22T15:59:55 | {"mesh": ["D005910"], "omim": ["613031"], "orphanet": ["182067"]} |
Aspartylglucosaminuria is a condition that causes a progressive decline in mental functioning.
Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. The first sign of this condition, evident around the age of 2 or 3, is usually delayed speech. Mi... | Aspartylglucosaminuria | c0268225 | 1,552 | medlineplus | https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/ | 2021-01-27T08:25:19 | {"gard": ["5854"], "mesh": ["D054880"], "omim": ["208400"], "synonyms": []} |
## Clinical Features
In a family of Yemenite Jewish extraction, Frydman et al. (1992) described an autosomal recessive syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles. Prognathism, synophrys, and thick eyebrows added to a typical facial appearance. Additional findings includ... | BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE | c1859432 | 1,553 | omim | https://www.omim.org/entry/210745 | 2019-09-22T16:30:22 | {"mesh": ["C536235"], "omim": ["210745"], "orphanet": ["2057"]} |
A number sign (#) is used with this entry because autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) is caused by heterozygous mutation in the DNA2 gene (601810) on chromosome 10q.
Description
PEOA6 is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exerc... | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 | c3554599 | 1,554 | omim | https://www.omim.org/entry/615156 | 2019-09-22T15:53:01 | {"omim": ["615156"], "orphanet": ["352470"], "synonyms": ["Mitochondrial DNA deletion syndrome with limb-girdle weakness", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 6", "mtDNA deletion syndrome with progressive myopathy", "Mitochondrial DNA deletion syndrome with progressive myopathy", "Alternative titl... |
A number sign (#) is used with this entry because hereditary persistence of alpha-fetoprotein (HPAFP) is caused by heterozygous mutation in the AFP gene (104150) on chromosome 4q13.
Description
Hereditary persistence of alpha-fetoprotein (HPAFP) is a clinically benign autosomal dominant condition characterized by c... | ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF | c1863080 | 1,555 | omim | https://www.omim.org/entry/615970 | 2019-09-22T15:50:23 | {"omim": ["615970"], "orphanet": ["168615"], "synonyms": []} |
Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in... | Chromosome 2p duplication | c0795803 | 1,556 | gard | https://rarediseases.info.nih.gov/diseases/5337/chromosome-2p-duplication | 2021-01-18T18:01:22 | {"mesh": ["C538318"], "umls": ["C0795803"], "synonyms": ["Duplication 2p", "Trisomy 2p", "2p duplication", "2p trisomy", "Partial trisomy 2p"]} |
Actinic conjunctivitis
Actinic conjunctivitis causes a redness of the eyes, as well as swelling and often grayness around the eyes.
Actinic conjunctivitis is an inflammation of the eye contracted from prolonged exposure to actinic (ultraviolet) rays. Symptoms are redness and swelling of the eyes. Most often th... | Actinic conjunctivitis | c1504543 | 1,557 | wikipedia | https://en.wikipedia.org/wiki/Actinic_conjunctivitis | 2021-01-18T18:35:04 | {"icd-9": ["370.24"], "wikidata": ["Q3507879"]} |
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present wi... | Pseudohypoparathyroidism type 1B | c1864100 | 1,558 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94089 | 2021-01-23T16:54:22 | {"gard": ["10680"], "mesh": ["C548075", "D011547"], "omim": ["603233"], "umls": ["C1864100", "C2932715"], "icd-10": ["E20.1"]} |
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: "Neuromyotonia" – news · newspapers · books... | Neuromyotonia | c0242287 | 1,559 | wikipedia | https://en.wikipedia.org/wiki/Neuromyotonia | 2021-01-18T18:59:20 | {"gard": ["6793"], "mesh": ["D020386"], "umls": ["C0751919", "C0242287"], "icd-9": ["333.90"], "icd-10": ["G71.1"], "orphanet": ["84142"], "wikidata": ["Q520797"]} |
Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detect... | Limbic encephalitis with caspr2 antibodies | c4706582 | 1,560 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276402 | 2021-01-23T17:45:19 | {"icd-10": ["G13.1"]} |
A number sign (#) is used with this entry because of evidence that polycystic kidney disease-5 (PKD5) is caused by homozygous mutation in the DZIP1L gene (617570) on chromosome 3q22.
Description
PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progr... | POLYCYSTIC KIDNEY DISEASE 5 | c0085548 | 1,561 | omim | https://www.omim.org/entry/617610 | 2019-09-22T15:45:20 | {"doid": ["0080273"], "mesh": ["D017044"], "omim": ["617610"], "orphanet": ["731"]} |
Trematodiases
Eggs of trematodes found in liver cell
SpecialtyInfectious disease
SymptomsChest pain, Abdominal pain, Fever, digestion issues, Cough, Diarrhea, change in appetite [1][2]
CausesTrematoda
Diagnostic methodImmunodiagnosis, Parasitological diagnosis [3]
PreventionEducation, food safety practice... | Trematodiases | c0040820 | 1,562 | wikipedia | https://en.wikipedia.org/wiki/Trematodiases | 2021-01-18T19:10:32 | {"gard": ["1891"], "mesh": ["D014201"], "umls": ["C0040820"], "icd-9": ["121.9"], "orphanet": ["1685"], "wikidata": ["Q3030745"]} |
Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for childre... | Split hand split foot nystagmus | c1866740 | 1,563 | gard | https://rarediseases.info.nih.gov/diseases/4967/split-hand-split-foot-nystagmus | 2021-01-18T17:57:34 | {"mesh": ["C537319"], "omim": ["183800"], "umls": ["C1866740"], "orphanet": ["2329"], "synonyms": ["Split hand nystagmus syndrome", "Karsch-Neugebauer syndrome", "KNS"]} |
A narrow strip of hardened skin, a constricting ring, forms on the little toe at the level of the digitoplantar fold and progresses to spontaneous amputation of the digit. Familial occurrence has been noted by Maass (1926) and by DaSilva Lima (1880). Simon (1921) reported ainhum in father and 2 sons. Ainhum-like cons... | AINHUM | c0001860 | 1,564 | omim | https://www.omim.org/entry/103400 | 2019-09-22T15:41:19 | {"doid": ["11329"], "mesh": ["D000387"], "omim": ["103400"], "icd-9": ["136.0"], "icd-10": ["L94.6"]} |
Feline zoonosis
SpecialtyInfectious disease, veterinary medicine
A feline zoonosis is a viral, bacterial, fungal, protozoan, nematode or arthropod infection that can be transmitted to humans from the domesticated cat, Felis catus. Some of these are diseases are reemerging and newly emerging infections or infes... | Feline zoonosis | None | 1,565 | wikipedia | https://en.wikipedia.org/wiki/Feline_zoonosis | 2021-01-18T18:54:55 | {"wikidata": ["Q28136278"]} |
Palpation thyroiditis refers to the development of thyroid inflammation due to mechanical damage to thyroid follicles.[1] This can occur by vigorous repeated palpation (as with thyroid examination) or surgical manipulation (as can occur with radical neck dissection). It is a type of subacute thyroiditis. Patholog... | Palpation thyroiditis | c2960048 | 1,566 | wikipedia | https://en.wikipedia.org/wiki/Palpation_thyroiditis | 2021-01-18T18:52:45 | {"umls": ["C2960048"], "wikidata": ["Q7128690"]} |
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present fro... | Waardenburg syndrome | c1847800 | 1,567 | medlineplus | https://medlineplus.gov/genetics/condition/waardenburg-syndrome/ | 2021-01-27T08:24:40 | {"gard": ["5525", "5519", "5520", "5523", "5524"], "mesh": ["D014849"], "omim": ["193500", "193510", "600193", "606662", "608890", "611584", "148820", "277580", "613265", "613266"], "synonyms": []} |
A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus ca... | Severe myopia-generalized joint laxity-short stature syndrome | c4540020 | 1,568 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=527450 | 2021-01-23T17:09:57 | {"omim": ["617662"]} |
Epidermolysis bullosa simplex with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching.[2310] In EB simplex... | Epidermolysis bullosa simplex with mottled pigmentation | c0432316 | 1,569 | gard | https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation | 2021-01-18T18:00:41 | {"mesh": ["C535959"], "omim": ["131960"], "umls": ["C0432316"], "orphanet": ["79397"], "synonyms": ["EBS with mottled pigmentation", "EBS-MP", "Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering"]} |
Pseudohyperaldosteronism (also pseudoaldosteronism) is a medical condition which mimics the effects of elevated aldosterone (hyperaldosteronism) by presenting with high blood pressure (hypertension), low blood potassium levels (hypokalemia), metabolic alkalosis, and low levels of plasma renin activity (PRA).[1][2] Ho... | Pseudohyperaldosteronism | c0221043 | 1,570 | wikipedia | https://en.wikipedia.org/wiki/Pseudohyperaldosteronism | 2021-01-18T18:41:00 | {"mesh": ["D056929"], "wikidata": ["Q524766"]} |
For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500.
Mapping
Cao et al. (1997) studied 2 independent datasets and reported evidence of a susceptibility locus for schizophrenia on 6q but could not confirm linkage to 6p They used a 2-stage approach and nonparametric... | SCHIZOPHRENIA 5 | c1864153 | 1,571 | omim | https://www.omim.org/entry/603175 | 2019-09-22T16:13:15 | {"omim": ["603175"], "synonyms": ["Alternative titles", "SCHIZOPHRENIA 5 WITH OR WITHOUT AN AFFECTIVE DISORDER", "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED"]} |
A number sign (#) is used with this entry because of evidence that hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is caused by compound heterozygous mutation in the LARS2 gene (604544) on chromosome 3p21. One such patient has been reported.
Clinical Features
Riley et al. (2016) reported a female infant,... | HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA | c4310761 | 1,572 | omim | https://www.omim.org/entry/617021 | 2019-09-22T15:47:13 | {"omim": ["617021"], "orphanet": ["528091"], "synonyms": []} |
A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain ima... | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | c4015505 | 1,573 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363432 | 2021-01-23T17:28:16 | {"omim": ["616204"], "icd-10": ["G11.1"], "synonyms": ["Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency", "SCAR18"]} |
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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. (Sep... | Face distortion | c4072832 | 1,574 | wikipedia | https://en.wikipedia.org/wiki/Face_distortion | 2021-01-18T19:03:17 | {"umls": ["C4072832"], "wikidata": ["Q5428354"]} |
A number sign (#) is used with this entry because congenital disorder of glycosylation type If (CDG1F) is caused by homozygous or compound heterozygous mutation in the MPDU1 gene (604041) on chromosome 17p13.
Description
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynt... | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | c1836669 | 1,575 | omim | https://www.omim.org/entry/609180 | 2019-09-22T16:06:33 | {"doid": ["0080558"], "mesh": ["C535744"], "omim": ["609180"], "orphanet": ["79323"], "synonyms": ["Alternative titles", "CDG If"]} |
## Summary
### Clinical characteristics.
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are the presence of HGA in the urine, ochronosis (bl... | Alkaptonuria | c0002066 | 1,576 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1454/ | 2021-01-18T20:46:50 | {"mesh": ["D000474"], "synonyms": ["Alcaptonuria"]} |
Post-traumatic epilepsy
SpecialtyNeurology
Post-traumatic epilepsy (PTE) is a form of acquired epilepsy that results from brain damage caused by physical trauma to the brain (traumatic brain injury, abbreviated TBI).[1] A person with PTE suffers repeated post-traumatic seizures (PTS, seizures that result from ... | Post-traumatic epilepsy | c0014557 | 1,577 | wikipedia | https://en.wikipedia.org/wiki/Post-traumatic_epilepsy | 2021-01-18T18:46:06 | {"gard": ["7437"], "mesh": ["D004834"], "wikidata": ["Q7233592"]} |
Glycogen storage disease
Fanconi–Bickel syndrome is a form of glycogen storage disease. It is also known for Guido Fanconi and Horst Bickel,[1][2] who first described it in 1949.
It is associated with GLUT2,[3][4] a glucose transport protein which, when functioning normally, allows glucose to exit several tissu... | Fanconi–Bickel syndrome | c3495427 | 1,578 | wikipedia | https://en.wikipedia.org/wiki/Fanconi%E2%80%93Bickel_syndrome | 2021-01-18T18:48:28 | {"gard": ["2268"], "mesh": ["D005198"], "umls": ["C3495427"], "orphanet": ["2088"], "wikidata": ["Q5572613"]} |
Redness of the skin or mucous membranes
Not to be confused with Arrythmia.
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Find sources: "Erythema" – news · newspapers · books ... | Erythema | c0332575 | 1,579 | wikipedia | https://en.wikipedia.org/wiki/Erythema | 2021-01-18T18:50:00 | {"mesh": ["D004890"], "umls": ["C0332575"], "icd-9": ["695"], "icd-10": ["L51", "L54"], "wikidata": ["Q1166142"]} |
A number sign (#) is used with this entry because of evidence that microtia, hearing impairment, and cleft palate is caused by homozygous mutation in the HOXA2 gene (604685) on chromosome 7p15. One such family has been reported.
There is also evidence that microtia with or without hearing impairment is caused by... | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | c2676772 | 1,580 | omim | https://www.omim.org/entry/612290 | 2019-09-22T16:02:01 | {"mesh": ["C567359"], "omim": ["612290"], "orphanet": ["140963"]} |
A number sign (#) is used with this entry because posterior column ataxia with retinitis pigmentosa (AXPC1) is caused by homozygous mutation in the FLVCR1 gene (609144) on chromosome 1q32.
Description
Posterior column ataxia with retinitis pigmentosa is an autosomal recessive neurologic disorder characterized by ch... | POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA | c1836916 | 1,581 | omim | https://www.omim.org/entry/609033 | 2019-09-22T16:06:48 | {"mesh": ["C536343"], "omim": ["609033"], "orphanet": ["88628"], "synonyms": ["Alternative titles", "PCARP"]} |
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
## Epidemiology
It has been clinically and molecularly characterized in 3 male members from the same family.
## Clinical description
Facial features include dee... | Xq27.3q28 duplication syndrome | c3275521 | 1,582 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261483 | 2021-01-23T17:45:25 | {"omim": ["300869"], "icd-10": ["Q99.8"], "synonyms": ["Dup(X)(q27.3q28)", "Trisomy Xq27.3-q28", "Trisomy Xq27.3q28", "Xq27.3-q28 microduplication syndrome"]} |
Pontine tegmental cap dysplasia is a rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorin... | Pontine tegmental cap dysplasia | c3541340 | 1,583 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=269229 | 2021-01-23T17:03:10 | {"gard": ["10919"], "omim": ["614688"], "icd-10": ["Q04.8"], "synonyms": ["PTCD"]} |
A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or... | Interstitial lung disease due to SP-C deficiency | c1970470 | 1,584 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=440392 | 2021-01-23T17:34:06 | {"mesh": ["C567048"], "omim": ["610913"], "icd-10": ["J84.8"], "synonyms": ["Interstitial lung disease due to surfactant protein C deficiency"]} |
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Find sources: "Chauffeur's fracture" – news · newspapers · books · scholar · JSTOR (February 2009) (Learn how and when to remove this ... | Chauffeur's fracture | c1961067 | 1,585 | wikipedia | https://en.wikipedia.org/wiki/Chauffeur%27s_fracture | 2021-01-18T19:05:27 | {"umls": ["C1961067"], "wikidata": ["Q3572829"]} |
A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is disco... | Adenoma of pancreas | c1142432 | 1,586 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93292 | 2021-01-23T18:21:49 | {"gard": ["4204"], "mesh": ["C538110"], "umls": ["C1142432"], "icd-10": ["D13.6"], "synonyms": ["Pancreatic adenoma"]} |
A number sign (#) is used with this entry because antigens of the Ss blood group result from variation in the gene encoding glycophorin B (GYPB; 617923) on chromosome 4q31.
Description
Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 ... | BLOOD GROUP, Ss | None | 1,587 | omim | https://www.omim.org/entry/111740 | 2019-09-22T16:44:12 | {"omim": ["111740"], "synonyms": ["Alternative titles", "Ss BLOOD GROUP"]} |
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Nieman... | Niemann-Pick disease type A | c0268242 | 1,588 | gard | https://rarediseases.info.nih.gov/diseases/7206/niemann-pick-disease-type-a | 2021-01-18T17:58:41 | {"mesh": ["D052536"], "omim": ["257200"], "orphanet": ["77292"], "synonyms": ["Sphingomyelin lipidosis", "Sphingomyelinase deficiency"]} |
## Description
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with ... | DEVELOPMENTAL DYSPLASIA OF THE HIP 1 | c4551649 | 1,589 | omim | https://www.omim.org/entry/142700 | 2019-09-22T16:40:11 | {"mesh": ["D006618"], "omim": ["142700"], "synonyms": ["Alternative titles", "HIP DYSPLASIA, DEVELOPMENTAL", "HIP DYSPLASIA, CONGENITAL", "ACETABULAR DYSPLASIA"]} |
A number sign (#) is used with this entry because of the demonstration that the disorder is caused by mutations in the human homolog of the mouse 'hairless' gene (HR; 602302); see 203655.
Clinical Features
Papillary lesions over most of the body and almost complete absence of hair are features. The patients are bor... | ATRICHIA WITH PAPULAR LESIONS | c1859592 | 1,590 | omim | https://www.omim.org/entry/209500 | 2019-09-22T16:30:37 | {"doid": ["0060689"], "mesh": ["C565924"], "omim": ["209500"], "orphanet": ["86819"], "synonyms": ["Alternative titles", "PAPULAR ATRICHIA"]} |
Giant-cell reticulohistiocytoma
SpecialtyDermatology
Giant-cell reticulohistiocytoma (also known as Solitary reticulohistiocytoma and Solitary reticulohistiocytosis)[1] is a cutaneous condition characterized by a solitary skin lesion.[1]
## See also[edit]
* Indeterminate cell histiocytosis
* List of cuta... | Giant-cell reticulohistiocytoma | None | 1,591 | wikipedia | https://en.wikipedia.org/wiki/Giant-cell_reticulohistiocytoma | 2021-01-18T18:32:54 | {"wikidata": ["Q5558340"]} |
Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used f... | Multisystemic smooth muscle dysfunction syndrome | c3151201 | 1,592 | gard | https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome | 2021-01-18T17:58:53 | {"omim": ["613834"], "orphanet": ["404463"], "synonyms": ["Congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy"]} |
A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-29 (SCA29), also known as congenital nonprogressive cerebellar ataxia (CNPCA), is caused by heterozygous mutation in the ITPR1 gene (147265) on chromosome 3p26.
Description
Spinocerebellar ataxia-29 is an autosomal dominant ne... | SPINOCEREBELLAR ATAXIA 29 | c1861732 | 1,593 | omim | https://www.omim.org/entry/117360 | 2019-09-22T16:43:31 | {"doid": ["0050978"], "mesh": ["C537206"], "omim": ["117360"], "orphanet": ["208513"], "synonyms": ["Alternative titles", "CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT", "CEREBELLAR VERMIS APLASIA", "APLASIA OF CEREBELLAR VERMIS"]} |
A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, v... | Mega-cisterna magna | c3164501 | 1,594 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97252 | 2021-01-23T17:48:27 | {"umls": ["C3164501"], "icd-10": ["Q07.8"]} |
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: "Dieterich's disease" – news · newspapers · books · scholar · JSTOR (December 2018) (Learn how and when to remove this t... | Dieterich's disease | c2931124 | 1,595 | wikipedia | https://en.wikipedia.org/wiki/Dieterich%27s_disease | 2021-01-18T19:00:24 | {"gard": ["204"], "mesh": ["C536172"], "umls": ["C2931124"], "wikidata": ["Q55790152"]} |
A number sign (#) is used with this entry because of evidence that GPI biosynthesis defect-1 (GPIBD1) is caused by homozygous mutation in the PIGM gene (610273) on chromosome 1q23.
Description
Glycosylphosphatidylinositol is a glycolipid that anchors more than 150 proteins to the cell surface, and these proteins, t... | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 | c1853205 | 1,596 | omim | https://www.omim.org/entry/610293 | 2019-09-22T16:04:44 | {"mesh": ["C537277"], "omim": ["610293"], "orphanet": ["83639"], "synonyms": ["Alternative titles", "PORTAL HYPERTENSION WITH SEIZURES AND/OR MACROCEPHALY", "GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY"]} |
Acholia
SpecialtyGastroenteritis
Acholia is the lack or absence of bile secretion.[1] It can also be referred to as hypocholia.[2] Acholia is a sign, meaning lack of the normal brown color in feces, pale feces, suggesting interference with liver function.[3]
## Contents
* 1 Etymology
* 2 Cause
* 3 See ... | Acholia | c0948198 | 1,597 | wikipedia | https://en.wikipedia.org/wiki/Acholia | 2021-01-18T18:42:26 | {"umls": ["C0948198"], "icd-9": ["575.8"], "icd-10": ["K82.8"], "wikidata": ["Q8187550"]} |
In 95% of cases worldwide, Leber hereditary optic atrophy (LHON) is due to 1 of 3 point mutations of mitochondrial DNA in genes that code for complex I of the respiratory chain: 3460G-A in MTND1 (516000.0001), 11778G-A in MTND4 (516003.0001), and 14484T-C in MTND6 (516006.0001). That only approximately 50% of mal... | LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO | c0917796 | 1,598 | omim | https://www.omim.org/entry/308905 | 2019-09-22T16:17:56 | {"mesh": ["D029242"], "omim": ["308905"], "orphanet": ["104"], "synonyms": ["Alternative titles", "LOAS", "LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF", "LHON, MODIFIER OF"]} |
A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and ne... | Acute sensory ataxic neuropathy | c4707661 | 1,599 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=231466 | 2021-01-23T18:32:33 | {"icd-10": ["G61.0"], "synonyms": ["ASAN", "Acute sensory ataxic GBS", "Acute sensory ataxic Guillain-Barré syndrome"]} |
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