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Injury of the brain from an external source
Traumatic brain injury
Other namesIntracranial injury, physically induced brain injury[1]
CT scan showing cerebral contusions, hemorrhage within the hemispheres, subdural hematoma, and skull fractures[2]
SpecialtyNeurosurgery, pediatrics
SymptomsPhysical, cognitive... | Traumatic brain injury | c0876926 | 2,400 | wikipedia | https://en.wikipedia.org/wiki/Traumatic_brain_injury | 2021-01-18T18:37:11 | {"mesh": ["D000070642"], "icd-9": ["854.1", "800.0", "801.9", "803.0", "850.0", "804.9"], "icd-10": ["S06"], "wikidata": ["Q1995526"]} |
A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratos... | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | c3810394 | 2,401 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402003 | 2021-01-23T17:05:57 | {"omim": ["615735"], "icd-10": ["Q82.8"]} |
Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.
*[v]: View this template
*[t]... | Chylous ascites | c0008732 | 2,402 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1160 | 2021-01-23T17:43:50 | {"gard": ["1359"], "mesh": ["D002915"], "omim": ["208300"], "umls": ["C0008732"], "icd-10": ["I89.8"]} |
Field et al. (1996) used the symbol IDDM11 for a susceptibility locus for insulin-dependent diabetes mellitus located on 14q24.3-q31. The locus was identified by demonstration of significant linkage to microsatellite D14S67, using both maximum likelihood methods and affected sib pair methods. They claimed that this r... | DIABETES MELLITUS, INSULIN-DEPENDENT, 11 | c1832605 | 2,403 | omim | https://www.omim.org/entry/601208 | 2019-09-22T16:15:14 | {"mesh": ["C563371"], "omim": ["601208"], "synonyms": ["Alternative titles", "INSULIN-DEPENDENT DIABETES MELLITUS 11"]} |
Foville's syndrome
Pons
SpecialtyNeurology
Foville's syndrome is caused by the blockage of the perforating branches of the basilar artery in the region of the brainstem known as the pons.[1] Most frequently caused by vascular disease or tumors involving the dorsal pons.
Structures affected by the infarct ar... | Foville's syndrome | None | 2,404 | wikipedia | https://en.wikipedia.org/wiki/Foville%27s_syndrome | 2021-01-18T18:33:33 | {"icd-9": ["344.89"], "icd-10": ["G46.3"], "wikidata": ["Q5476358"]} |
## Description
Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by Rafiq et al., 2004). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9).
For a list o... | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | c0265998 | 2,405 | omim | https://www.omim.org/entry/614149 | 2019-09-22T15:56:26 | {"doid": ["0080087"], "mesh": ["C536377"], "omim": ["614149"], "orphanet": ["79143", "90390"], "synonyms": ["Alternative titles", "ANONYCHIA-ONYCHOLYSIS, ISOLATED", "ONYCHODYSTROPHY", "NAIL DYSPLASIA"]} |
A number sign (#) is used with this entry because Cockayne syndrome B (CSB) is caused by mutation in the gene encoding the group 6 excision repair cross-complementing protein (ERCC6; 609413).
Cockayne syndrome A (CSA; 216400) is caused by mutation in the ERCC8 gene (609412) on chromosome 5q11. Among patients with Co... | COCKAYNE SYNDROME B | c0751038 | 2,406 | omim | https://www.omim.org/entry/133540 | 2019-09-22T16:41:29 | {"doid": ["2962"], "mesh": ["D003057"], "omim": ["133540"], "orphanet": ["90322", "191", "90321", "90324"], "genereviews": ["NBK1342"]} |
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
## Epidemiology
All types and subtypes of EB are rare; the overall incidence and prevalence of the disease in the Unit... | Inherited epidermolysis bullosa | c1274224 | 2,407 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79361 | 2021-01-23T18:44:29 | {"umls": ["C1274224"], "icd-10": ["Q81.0", "Q81.1", "Q81.2", "Q81.8", "Q81.9"], "synonyms": ["Epidermolysis bullosa hereditaria", "Hereditary epidermolysis bullosa"]} |
Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones.
The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infecti... | Shwachman-Diamond syndrome | c0272170 | 2,408 | medlineplus | https://medlineplus.gov/genetics/condition/shwachman-diamond-syndrome/ | 2021-01-27T08:24:43 | {"gard": ["4863"], "mesh": ["C537330"], "omim": ["260400"], "synonyms": []} |
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: "Lymphomatoid papulosis" – news · newspapers · books · scholar · JSTOR (January 2009) (Learn how and when to remove this... | Lymphomatoid papulosis | c0206182 | 2,409 | wikipedia | https://en.wikipedia.org/wiki/Lymphomatoid_papulosis | 2021-01-18T18:53:56 | {"gard": ["6944"], "mesh": ["D017731"], "umls": ["C0206182"], "icd-10": ["C86.6", "L41.2"], "orphanet": ["98842"], "wikidata": ["Q1878745"]} |
A number sign (#) is used with this entry because of evidence that myopia-23 (MYP23) is caused by homozygous mutation in the LRPAP1 gene (104225) on chromosome 4p16.
Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and ... | MYOPIA 23, AUTOSOMAL RECESSIVE | c0027092 | 2,410 | omim | https://www.omim.org/entry/615431 | 2019-09-22T15:52:09 | {"doid": ["11830"], "mesh": ["D009216"], "omim": ["615431"], "orphanet": ["98619"]} |
## Cloning and Expression
Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an... | GUANYLATE CYCLASE 2E, PSEUDOGENE | c3887944 | 2,411 | omim | https://www.omim.org/entry/601138 | 2019-09-22T16:15:28 | {"omim": ["601138"], "synonyms": ["Alternative titles", "GUCY2E", "GUANYLYL CYCLASE, MEMBRANE, TYPE E", "GC-E", "GUCY2D, MOUSE, HOMOLOG OF"]} |
A number sign (#) is used with this entry because Noonan syndrome-4 (NS4) is caused by heterozygous mutation in the SOS1 gene (182530) on chromosome 2p22.
For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).
Clinical Features
Roberts et al. (2007) and Tartagl... | NOONAN SYNDROME 4 | c0028326 | 2,412 | omim | https://www.omim.org/entry/610733 | 2019-09-22T16:04:11 | {"doid": ["0060582"], "mesh": ["D009634"], "omim": ["610733"], "orphanet": ["648"], "genereviews": ["NBK1124"]} |
Erythema elevatum diutinum (EED) is a disorder of the skin associated with small blood vessel inflammation (vasculitis). Symptoms include red, purple, brown or yellow bumps of different sizes that grow on or just below the skin. These growths are located mainly on the elbows, knees, ankles, hands, and fingers. People... | Erythema elevatum diutinum | c0263398 | 2,413 | gard | https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum | 2021-01-18T18:00:39 | {"mesh": ["C535509"], "umls": ["C0263398"], "orphanet": ["90000"], "synonyms": []} |
3C syndrome
Other namesCCC dysplasia, Craniocerebellocardiac dysplasia[1] or Ritscher–Schinzel syndrome,[2]
SpecialtyMedical genetics
3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 ... | 3C syndrome | c0796137 | 2,414 | wikipedia | https://en.wikipedia.org/wiki/3C_syndrome | 2021-01-18T18:41:17 | {"mesh": ["C535313"], "umls": ["C0796137"], "orphanet": ["7"], "wikidata": ["Q2155008"]} |
Micrograph showing cortical pseudolaminar necrosis. H&E-LFB stain.
Cortical pseudolaminar necrosis, also known as cortical laminar necrosis and simply laminar necrosis, is the (uncontrolled) death of cells in the (cerebral) cortex of the brain in a band-like pattern,[1] with a relative preservation of cells imme... | Cortical pseudolaminar necrosis | c0948229 | 2,415 | wikipedia | https://en.wikipedia.org/wiki/Cortical_pseudolaminar_necrosis | 2021-01-18T18:45:10 | {"umls": ["C0948229"], "wikidata": ["Q5173270"]} |
Spasmodic torticollis
Muscles of the neck
SpecialtyNeurology
Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as "cervical dystonia". Both agonist and an... | Spasmodic torticollis | c0949445 | 2,416 | wikipedia | https://en.wikipedia.org/wiki/Spasmodic_torticollis | 2021-01-18T19:02:19 | {"gard": ["10668"], "mesh": ["D014103"], "umls": ["C0949445", "C0152116"], "icd-9": ["333.83"], "icd-10": ["G24.3"], "wikidata": ["Q6152510"]} |
For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see 145500.
Mapping
Using rural Chinese sib pairs with extreme blood pressure, Xu et al. (1999) identified suggestive linkage for regions on chromosomes 15 and 16. By refining the trait definition and genotyping ad... | HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2 | c1858497 | 2,417 | omim | https://www.omim.org/entry/604329 | 2019-09-22T16:12:11 | {"omim": ["604329"], "synonyms": ["Alternative titles", "HYT2"]} |
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and... | LIMS2-related limb-girdle muscular dystrophy | c4225192 | 2,418 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=466801 | 2021-01-23T17:53:13 | {"omim": ["616827"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy type 2W", "LGMD type 2W", "LGMD2W", "LIMS2-related LGM", "Limb-girdle muscular dystrophy type 2W"]} |
A number sign (#) is used with this entry because Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia is caused by heterozygous mutation in the CBL gene (165360).
For a general phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950).
Descripti... | NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA | c3150803 | 2,419 | omim | https://www.omim.org/entry/613563 | 2019-09-22T15:58:17 | {"omim": ["613563"], "orphanet": ["363972"], "synonyms": ["Noonan syndrome-like disorder with JMML", "CBL syndrome", "Alternative titles", "CBL MUTATION-ASSOCIATED SYNDROME", "CBL SYNDROME"]} |
Skin condition
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: "Acne mechanica" – news · n... | Acne mechanica | c0263460 | 2,420 | wikipedia | https://en.wikipedia.org/wiki/Acne_mechanica | 2021-01-18T18:37:57 | {"umls": ["C0263460", "C0856047"], "wikidata": ["Q4674428"]} |
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehea... | Macrosomia-microphthalmia-cleft palate syndrome | c1855467 | 2,421 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2432 | 2021-01-23T18:28:25 | {"gard": ["177"], "mesh": ["C537830"], "omim": ["248110"], "umls": ["C1855467"], "icd-10": ["Q87.0"], "synonyms": ["Teebi-Al Saleh-Hassoon syndrome"]} |
## Summary
### Clinical characteristics.
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized skull, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other... | Diastrophic Dysplasia | c0220726 | 2,422 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1350/ | 2021-01-18T21:30:53 | {"mesh": ["C536170"], "synonyms": ["Diastrophic Dwarfism"]} |
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous he... | Cataract-aberrant oral frenula-growth delay syndrome | c1861835 | 2,423 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1373 | 2021-01-23T18:46:08 | {"gard": ["5554"], "mesh": ["C536691"], "omim": ["115645"], "umls": ["C1861835"], "icd-10": ["Q87.8"], "synonyms": ["Wellesley-Carman-French syndrome"]} |
Trehalase deficiency is a metabolic condition in which the body lacks an enzyme called trehalase and is not able to convert trehalose, a disaccharide (sugar composed of two monosaccharides) into glucose (sugar composed of one monosaccharide). Trehalose is found naturally in mushrooms, algae and insects. Trehalose may... | Trehalase deficiency | c0268187 | 2,424 | gard | https://rarediseases.info.nih.gov/diseases/10372/trehalase-deficiency | 2021-01-18T17:57:19 | {"mesh": ["C562603"], "omim": ["612119"], "umls": ["C0268187"], "synonyms": ["Trehalose intolerance"]} |
A number sign (#) is used with this entry because familial candidiasis-4 (CANDF4) is caused by homozygous mutation in the DEC1 (CLEC7A) gene (606264) on chromosome 12p13.
For a general description and a discussion of genetic heterogeneity of familial chronic candidiasis, see CANDF1 (114580).
Clinical Features
Ferw... | CANDIDIASIS, FAMILIAL, 4 | c0006845 | 2,425 | omim | https://www.omim.org/entry/613108 | 2019-09-22T15:59:37 | {"doid": ["2058"], "mesh": ["D002178"], "omim": ["613108"], "orphanet": ["1334"], "synonyms": ["Alternative titles", "CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS"]} |
Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition imp... | Loose anagen syndrome | c0406468 | 2,426 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=168 | 2021-01-23T17:33:34 | {"gard": ["3287"], "mesh": ["D058247"], "omim": ["600628"], "umls": ["C0406468"], "icd-10": ["L65.1"]} |
The notion of an X-linked form of manic-depressive illness dates back to at least the 1930s when an excess of affected females and a deficiency of male-to-male transmission made this an attractive possibility. The paper by Reich et al. (1969), reporting linkage to colorblindness (see 303800) in 2 kindreds, was a land... | MAJOR AFFECTIVE DISORDER 2 | c1839839 | 2,427 | omim | https://www.omim.org/entry/309200 | 2019-09-22T16:17:53 | {"mesh": ["C564108"], "omim": ["309200"], "synonyms": ["Alternative titles", "MANIC-DEPRESSIVE ILLNESS", "MANIC-DEPRESSIVE PSYCHOSIS, X-LINKED", "BIPOLAR AFFECTIVE DISORDER"]} |
A number sign (#) is used with this entry because of evidence that pulmonary venoocclusive disease-1 (PVOD1) is caused by heterozygous mutation in the BMPR2 gene (600799) on chromosome 2q33.
Description
Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve sign... | PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT | c0034091 | 2,428 | omim | https://www.omim.org/entry/265450 | 2019-09-22T16:23:00 | {"doid": ["5453"], "mesh": ["D011668"], "omim": ["265450"], "orphanet": ["31837"], "synonyms": ["Alternative titles", "PVOD"]} |
Parasitic disease caused by a family of nematode worms
Filariasis
Life cycle of Wuchereria bancrofti, a parasite that causes filariasis
SpecialtyInfectious disease
Filariasis is a parasitic disease caused by an infection with roundworms of the Filarioidea type.[1] These are spread by blood-feeding insects s... | Filariasis | c0016085 | 2,429 | wikipedia | https://en.wikipedia.org/wiki/Filariasis | 2021-01-18T18:57:02 | {"mesh": ["D005368"], "orphanet": ["2034"], "wikidata": ["Q815753"]} |
Group of brain diseases induced by prions
Transmissible spongiform encephalopathy
Other namesPrion disease
SpecialtyInfectious disease
SymptomsDementia, seizures, tremors, insomnia, psychosis, delirium, confusion
Usual onsetMonths to decades
TypesBovine spongiform encephalopathy, Fatal familial insomni... | Transmissible spongiform encephalopathy | c0162534 | 2,430 | wikipedia | https://en.wikipedia.org/wiki/Transmissible_spongiform_encephalopathy | 2021-01-18T18:44:20 | {"mesh": ["D017096"], "umls": ["C0162534"], "icd-9": ["046"], "icd-10": ["A81"], "orphanet": ["56970"], "wikidata": ["Q703961"]} |
Not to be confused with polyurea or Frequent urination.
Polyuria
Other namesUrination - excessive amount[1]
Regulation of urine production by ADH and aldosterone
SpecialtyEndocrinology, nephrology
CausesPolydipsia, Psychogenic polydipsia[2][3]
Diagnostic methodUrine test and blood test[4]
TreatmentDe... | Polyuria | c0032617 | 2,431 | wikipedia | https://en.wikipedia.org/wiki/Polyuria | 2021-01-18T18:33:06 | {"mesh": ["D011141"], "umls": ["C0032617"], "icd-9": ["788.42"], "icd-10": ["R35"], "wikidata": ["Q1124286"]} |
HIV superinfection (also called HIV reinfection or SuperAIDS) is a condition in which a person with an established human immunodeficiency virus infection acquires a second strain of HIV, often of a different subtype.[1] These can form a recombinant strain that co-exists with the strain from the initial infection,... | HIV superinfection | None | 2,432 | wikipedia | https://en.wikipedia.org/wiki/HIV_superinfection | 2021-01-18T18:52:10 | {"wikidata": ["Q4817339"]} |
Keratosis punctata of the palmar creases
Other namesHyperkeratosis penetrans, Hyperkeratosis punctata, Keratodermia punctata, Keratosis punctata, Keratotic pits of the palmar creases, Lenticular atrophia of the palmar creases, and Punctate keratosis of the palmar creases
SpecialtyDermatology
Keratosis pu... | Keratosis punctata of the palmar creases | None | 2,433 | wikipedia | https://en.wikipedia.org/wiki/Keratosis_punctata_of_the_palmar_creases | 2021-01-18T18:32:01 | {"wikidata": ["Q6393663"]} |
A number sign (#) is used with this entry because DiGeorge syndrome is caused by a 1.5- to 3.0-Mb heterozygous deletion of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene (602054) in particular is responsible for most of the physical malformations. There is evidence that point mutations in the TBX1 gene c... | DIGEORGE SYNDROME | c0012236 | 2,434 | omim | https://www.omim.org/entry/188400 | 2019-09-22T16:32:34 | {"doid": ["11198"], "mesh": ["D004062"], "omim": ["188400"], "icd-9": ["279.11"], "icd-10": ["D82.1"], "orphanet": ["567"], "synonyms": ["Alternative titles", "CHROMOSOME 22q11.2 DELETION SYNDROME", "HYPOPLASIA OF THYMUS AND PARATHYROIDS", "THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME"], "genereviews": ["NBK1523"]} |
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
## Epidemiology
It has been described in a father and his son and daughter.
## Cl... | Guttmacher syndrome | c1867801 | 2,435 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2957 | 2021-01-23T17:47:17 | {"gard": ["4470"], "mesh": ["C538278"], "omim": ["176305"], "umls": ["C1867801"], "icd-10": ["Q87.2"], "synonyms": ["Preaxial deficiency-postaxial polydactyly-hypospadias syndrome"]} |
A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopath... | Chikungunya | c0008055 | 2,436 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=324625 | 2021-01-23T18:05:15 | {"gard": ["6038"], "mesh": ["D065632"], "umls": ["C0008055"], "icd-10": ["A92.0"]} |
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Low pressure hydrocephalus ... | Low pressure hydrocephalus | c0020258 | 2,437 | wikipedia | https://en.wikipedia.org/wiki/Low_pressure_hydrocephalus | 2021-01-18T19:03:08 | {"mesh": ["D006850"], "wikidata": ["Q6693036"]} |
Celibacy syndrome (Japanese: セックスしない症候群, sekkusu shinai shōkōgun) is a media hypothesis proposing that a growing number of Japanese adults have lost interest in sexual activity and have also lost interest in romantic love, dating and marriage.[1] Following a report in The Guardian, the theory gained widespread at... | Celibacy syndrome | None | 2,438 | wikipedia | https://en.wikipedia.org/wiki/Celibacy_syndrome | 2021-01-18T19:00:02 | {"wikidata": ["Q15137364"]} |
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypopla... | FGFR2-related bent bone dysplasia | c3281247 | 2,439 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=313855 | 2021-01-23T18:26:01 | {"gard": ["10965"], "omim": ["614592"], "synonyms": ["Perinatal lethal bent bone dysplasia"]} |
A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, m... | Acute encephalopathy with biphasic seizures and late reduced diffusion | c4707658 | 2,440 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363549 | 2021-01-23T18:39:46 | {"icd-10": ["G40.4"], "synonyms": ["AESD", "AIEF", "Acute infantile encephalopathy predominantly affecting the frontal lobes"]} |
This article needs editing for compliance with Wikipedia's Manual of Style. In particular, it has problems with not using MEDMOS. Please help improve it if you can. (February 2018) (Learn how and when to remove this template message)
It has been suggested that this article be split into articles titled Dysfibrin... | Dysfibrinogenemia | c1260903 | 2,441 | wikipedia | https://en.wikipedia.org/wiki/Dysfibrinogenemia | 2021-01-18T18:42:16 | {"gard": ["2004"], "umls": ["C1260903", "C0272350"], "orphanet": ["335", "98881", "248408"], "wikidata": ["Q5319404"]} |
Sutherland et al. (1980) and Scheres and Hustinx (1980) identified a new class of fragile site at 10q25 that requires bromodeoxyuridine in the culture medium for expression. It appears to be inherited in a mendelian dominant manner and is polymorphic in the Australian population where the frequency was found to b... | FRAGILE SITE 10q25 | c1850980 | 2,442 | omim | https://www.omim.org/entry/136620 | 2019-09-22T16:40:57 | {"omim": ["136620"], "synonyms": ["Alternative titles", "BrdU-DEPENDENT FRAGILE SITE"]} |
Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis. It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (... | Blau syndrome | c1861303 | 2,443 | gard | https://rarediseases.info.nih.gov/diseases/304/blau-syndrome | 2021-01-18T18:01:46 | {"mesh": ["C538157"], "omim": ["186580"], "umls": ["C1861303"], "orphanet": ["90340"], "synonyms": ["Arthrocutaneouveal granulomatosis", "ACUG", "Granulomatosis, familial, Blau type", "Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial", "Synovitis granulomatous with uveitis and cranial neuropathie... |
For a phenotypic description and a discussion of genetic heterogeneity of attention deficit-hyperactivity disorder, see 143465.
Clinical Features
Rommelse et al. (2008) cited 10 neuropsychologic cognitive and motor measures that had been shown to be candidate ADHD phenotypes: stop task, shifting attentional set, ti... | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6 | c2676740 | 2,444 | omim | https://www.omim.org/entry/612312 | 2019-09-22T16:01:50 | {"omim": ["612312"], "synonyms": ["Alternative titles", "ADHD6", "DIGIT SPAN QUANTITATIVE TRAIT LOCUS"]} |
A number sign (#) is used with this entry because the Vel blood group system is determined by the SMIM1 gene (615242), which encodes the Vel antigen, on chromosome 1p36.
Description
The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that show... | BLOOD GROUP, VEL SYSTEM | c3808966 | 2,445 | omim | https://www.omim.org/entry/615264 | 2019-09-22T15:52:44 | {"omim": ["615264"]} |
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Heimler syndrome
Autosomal rece... | Heimler syndrome | c1856186 | 2,446 | wikipedia | https://en.wikipedia.org/wiki/Heimler_syndrome | 2021-01-18T18:47:59 | {"gard": ["1687"], "mesh": ["C535994"], "orphanet": ["3220"], "wikidata": ["Q55345705"]} |
Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve ... | Tarsal tunnel syndrome | c0039319 | 2,447 | gard | https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome | 2021-01-18T17:57:24 | {"mesh": ["D013641"], "umls": ["C0039319"], "synonyms": ["Posterior Tibial Nerve Neuralgia", "Neuropathy of the posterior tibial nerve and its branches"]} |
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
## Epidemiology
Estimated prevalence a... | Progressive familial intrahepatic cholestasis type 3 | c1865643 | 2,448 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79305 | 2021-01-23T17:11:40 | {"gard": ["1289"], "mesh": ["C535935"], "omim": ["602347"], "umls": ["C1865643"], "icd-10": ["K76.8"], "synonyms": ["PFIC3"]} |
Vasoplegic syndrome (VPS) is a postperfusion syndrome characterized by low systemic vascular resistance and a high cardiac output.
## Contents
* 1 Causes
* 2 Diagnosis
* 2.1 Definition
* 3 Treatment
* 4 Epidemiology
* 5 References
## Causes[edit]
VPS occurs more frequently after on pump CABG surgery... | Vasoplegic syndrome | c2717957 | 2,449 | wikipedia | https://en.wikipedia.org/wiki/Vasoplegic_syndrome | 2021-01-18T19:09:37 | {"mesh": ["D056987"], "umls": ["C2717957"], "wikidata": ["Q3554941"]} |
Necrobiotic xanthogranuloma
Other namesNXG[1]
SpecialtyDermatology
Necrobiotic xanthogranuloma (also known as "necrobiotic xanthogranuloma with paraproteinemia"[2]) is a multisystem disease that affects older adults, and is characterized by prominent skin findings.[3]:707
## See also[edit]
* List of ... | Necrobiotic xanthogranuloma | c1275339 | 2,450 | wikipedia | https://en.wikipedia.org/wiki/Necrobiotic_xanthogranuloma | 2021-01-18T18:38:01 | {"gard": ["10951"], "mesh": ["D058252"], "umls": ["C1275339"], "orphanet": ["158011"], "wikidata": ["Q4021720"]} |
Elastosis perforans serpiginosa
Other namesEPS[1]
Elastosis perforans serpiginosa: Hyperkeratotic plaque of papules[2]
SpecialtyDermatology
Elastosis perforans serpiginosa is a unique perforating disorder characterized by transepidermal elimination of elastic fibers and distinctive clinical lesions, wh... | Elastosis perforans serpiginosa | c0221271 | 2,451 | wikipedia | https://en.wikipedia.org/wiki/Elastosis_perforans_serpiginosa | 2021-01-18T18:34:18 | {"gard": ["10103"], "mesh": ["C536202"], "umls": ["C0221271"], "icd-10": ["L87.2"], "orphanet": ["79148"], "wikidata": ["Q5353584"]} |
Deletion of the gulonolactone oxidase gene on 8p21 is a genetic disease that affects 100% of humans. Lack of the enzyme causes severe connective tissue disease and makes humans dependent upon dietary supplements of ascorbic acid; see 240400. Gilbert and Zevit (2001) pointed out that another genetic condition, aff... | BACULUM, CONGENITAL ABSENCE OF | c1853565 | 2,452 | omim | https://www.omim.org/entry/606174 | 2019-09-22T16:10:36 | {"omim": ["606174"], "synonyms": ["Alternative titles", "OS PENIS, CONGENITAL ABSENCE OF"]} |
Back strain
SpecialtyFamily medicine
Back strain is the injury occurring to muscles or tendons. Due to back strain, the tendons and muscles supporting the spine are twisted or pulled. Chronic back strain occurs because of the sustained trauma and wearing out of the back muscles[1] Acute back strain can occur f... | Back strain | c0347721 | 2,453 | wikipedia | https://en.wikipedia.org/wiki/Back_strain | 2021-01-18T18:50:16 | {"umls": ["C0347721"], "wikidata": ["Q28136363"]} |
Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcom... | Pleomorphic liposarcoma | c0205825 | 2,454 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99969 | 2021-01-23T17:06:48 | {"mesh": ["D008080"], "umls": ["C0205825"], "icd-10": ["C49.9"], "synonyms": ["PLS"]} |
Chilblain lupus erythematosus
Other namesChilblain lupus erythematosus of Hutchinson[1]
SpecialtyDermatology
Chilblain lupus erythematosus is a chronic, unremitting form of lupus erythematosus with the fingertips, rims of ears, calves, and heels affected, especially in women.[2][3][4]
## See also[edit]
*... | Chilblain lupus erythematosus | c0024145 | 2,455 | wikipedia | https://en.wikipedia.org/wiki/Chilblain_lupus_erythematosus | 2021-01-18T19:01:16 | {"mesh": ["C535924"], "umls": ["C0024145"], "orphanet": ["90280"], "wikidata": ["Q5097618"]} |
Oculocutaneous albinism
Other namesOCA
SpecialtyOphthalmology, dermatology
Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.[1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism.[1] OCA is caused by mutat... | Oculocutaneous albinism | c0078918 | 2,456 | wikipedia | https://en.wikipedia.org/wiki/Oculocutaneous_albinism | 2021-01-18T18:30:53 | {"gard": ["10958"], "mesh": ["D016115"], "umls": ["C0078918"], "icd-9": ["270.2"], "orphanet": ["55"], "wikidata": ["Q2017741"]} |
Vulvovaginal rhabdomyosarcoma is a rare vulvovaginal tumour, a highly malignant soft tissue sarcoma composed of cells with round to oval or spindle-shaped nuclei and eosinophilic cytoplasm that may show differentiation towards striated muscle cells. It usually affects children and presents with a vulvar or vagina... | Vulvovaginal rhabdomyosarcoma | c4707823 | 2,457 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206492 | 2021-01-23T19:10:56 | {"icd-10": ["C52"]} |
Distinctively shaped callus of dead skin
For other uses, see Corn (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: "Corn" medicine – news · newspaper... | Corn (medicine) | None | 2,458 | wikipedia | https://en.wikipedia.org/wiki/Corn_(medicine) | 2021-01-18T18:55:06 | {"icd-10": ["L84"], "wikidata": ["Q154558"]} |
This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. Please help to improve this article by introducing more precise citations. (March 2011) (Learn how and when to remove this template message)
Infantile free sialic a... | Infantile free sialic acid storage disease | c1963905 | 2,459 | wikipedia | https://en.wikipedia.org/wiki/Infantile_free_sialic_acid_storage_disease | 2021-01-18T18:52:07 | {"gard": ["175"], "umls": ["C1963905"], "orphanet": ["834", "309324"], "wikidata": ["Q2280692"]} |
Carotid-cavernous fistula
Other namesCCF
Oblique section through the cavernous sinus.
SpecialtyNeurology, cardiology
A carotid-cavernous fistula results from an abnormal communication between the arterial and venous systems within the cavernous sinus in the skull. It is a type of arteriovenous fistula.... | Carotid-cavernous fistula | c0238045 | 2,460 | wikipedia | https://en.wikipedia.org/wiki/Carotid-cavernous_fistula | 2021-01-18T19:07:53 | {"mesh": ["D020216"], "wikidata": ["Q5045537"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to idiopathic generalized epilepsy-14 (EIG14) is conferred by heterozygous mutation in the SLC12A5 gene (606726) on chromosome 20q13.
For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic gene... | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 | c4225245 | 2,461 | omim | https://www.omim.org/entry/616685 | 2019-09-22T15:48:17 | {"omim": ["616685"]} |
Canavan disease is a progressive, fatal, genetic disorder affecting the central nervous system, muscles, and eyes. Early symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control. Symptoms progress to seizures, blindness, inability to move voluntarily and difficulty eatin... | Canavan disease | c0206307 | 2,462 | gard | https://rarediseases.info.nih.gov/diseases/5984/canavan-disease | 2021-01-18T18:01:39 | {"mesh": ["D017825"], "omim": ["271900"], "umls": ["C0206307"], "orphanet": ["141"], "synonyms": ["Canavan-van Bogaert-Bertrand disease", "Spongy degeneration of the central nervous system", "Von Bogaert-Bertrand disease", "Aspartoacylase deficiency", "ASPA deficiency", "ASP deficiency", "ACY2 deficiency", "Aminoacylas... |
For a discussion of the genetic heterogeneity in serum adiponectin levels, see ADIPQTL1 (612556).
Mapping
Jee et al. (2010) measured adiponectin (605441) levels in and genotyped 4,001 Korean volunteers using a genomewide marker panel in a 2-stage design, and analyzed selected markers in another 2,304 individuals in... | ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 5 | c3151203 | 2,463 | omim | https://www.omim.org/entry/613836 | 2019-09-22T15:57:17 | {"omim": ["613836"]} |
A number sign (#) is used with this entry because at least some cases of carpal tunnel syndrome are caused by heterozygous mutation in the TTR gene, encoding transthyretin (176300), on chromosome 18q12.
Susceptibility to the development of carpal tunnel syndrome (613353) may also be conferred by heterozygous mutatio... | CARPAL TUNNEL SYNDROME | c0007286 | 2,464 | omim | https://www.omim.org/entry/115430 | 2019-09-22T16:43:40 | {"doid": ["12169"], "mesh": ["D002349"], "omim": ["115430"], "icd-9": ["354.0"], "icd-10": ["G56.00", "G56.0"], "synonyms": ["Alternative titles", "CTS", "AMYOTROPHY, THENAR, OF CARPAL ORIGIN"]} |
A number sign (#) is used with this entry because Diamond-Blackfan anemia-7 (DBA7) is caused by heterozygous mutation in the gene encoding ribosomal protein L11 (RPL11; 604175) on chromosome 1p36.
Description
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first yea... | DIAMOND-BLACKFAN ANEMIA 7 | c1260899 | 2,465 | omim | https://www.omim.org/entry/612562 | 2019-09-22T16:01:15 | {"doid": ["1339"], "mesh": ["D029503"], "omim": ["612562"], "orphanet": ["124"], "genereviews": ["NBK7047"]} |
Hyperferritinemia cataract syndrome is a rare condition that is characterized by elevated levels of ferritin (an iron-storing protein) in the blood and early onset cataracts. Without treatment, these cataracts often become progressively worse leading to dimming and blurriness of vision. The severity of the condition ... | Hyperferritinemia cataract syndrome | c1833213 | 2,466 | gard | https://rarediseases.info.nih.gov/diseases/2806/hyperferritinemia-cataract-syndrome | 2021-01-18T17:59:55 | {"mesh": ["C538137"], "omim": ["600886"], "umls": ["C1833213"], "orphanet": ["163"], "synonyms": ["Hereditary hyperferritinemia cataract syndrome", "Cataract-hyperferritinemia syndrome", "Bonneau-Beaumont syndrome"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to acute infection-induced (herpes-specific) encephalopathy (IIAE5) is caused by heterozygous mutation in the TRAF3 gene (601896) on chromosome 14q32. One such patient has been reported.
For a phenotypic description of herpes simplex e... | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5 | c0276226 | 2,467 | omim | https://www.omim.org/entry/614849 | 2019-09-22T15:54:02 | {"mesh": ["D020803"], "omim": ["614849"], "orphanet": ["1930"], "synonyms": ["Alternative titles", "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3"]} |
A syndrome characterized by bone loss
Gorham's disease
Other namesAcro-osteolysis syndrome, Breschet-Gorham-Stout syndrome,[1] Cystic angiomatosis of bone,[1] Disappearing bone disease, Disseminated lymphangiomatosis, Disseminated osseous bone disease, Essential osteolysis, Gorham-Stout syndrome, Gorham's lymphang... | Gorham's disease | c0029436 | 2,468 | wikipedia | https://en.wikipedia.org/wiki/Gorham%27s_disease | 2021-01-18T18:29:32 | {"gard": ["6542"], "mesh": ["D010015"], "umls": ["C0029436"], "icd-9": ["733.99"], "orphanet": ["73"], "wikidata": ["Q1538277"]} |
Resistant ovary syndrome, previously known as Savage syndrome, is a cause of ovarian failure that can lead to secondary amenorrhea. Resistant ovaries result from a functional disturbance of the gonadotropin receptors in the ovarian follicles. It may be a cause of primary or secondary amenorrhea and is resistant t... | Gonadotropin-resistant ovary syndrome | c0086367 | 2,469 | wikipedia | https://en.wikipedia.org/wiki/Gonadotropin-resistant_ovary_syndrome | 2021-01-18T18:54:08 | {"mesh": ["D016649"], "umls": ["C0086367"], "wikidata": ["Q5581327"]} |
Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threateni... | Facial arteriovenous malformation | None | 2,470 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=156230 | 2021-01-23T19:07:10 | {"icd-10": ["Q27.3"]} |
A number sign (#) is used with this entry because catecholaminergic polymorphic ventricular tachycardia-2 (CPVT2) is caused by homozygous or compound heterozygous mutation in the gene encoding calsequestrin-2 (CASQ2; 114251) on chromosome 1p13.
For a general phenotypic description and a discussion of genetic heterog... | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 | c1631597 | 2,471 | omim | https://www.omim.org/entry/611938 | 2019-09-22T16:02:37 | {"doid": ["0060676"], "mesh": ["C536334"], "omim": ["611938"], "orphanet": ["3286"], "synonyms": ["Alternative titles", "VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC"], "genereviews": ["NBK1289"]} |
## Description
The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction. For a discussion of ge... | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX | c1842586 | 2,472 | omim | https://www.omim.org/entry/608088 | 2019-09-22T16:08:16 | {"doid": ["0070148"], "mesh": ["C564296"], "omim": ["608088"], "orphanet": ["139564"], "synonyms": ["Alternative titles", "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IB", "NEUROPATHY, HEREDITARY SENSORY, TYPE IB"]} |
Monocytic leukemia
SpecialtyOncology
Monocytic leukemia is a type of myeloid leukemia characterized by a dominance of monocytes in the marrow. When the monocytic cells are predominantly monoblasts, it can be subclassified into acute monoblastic leukemia.
Monocytic leukemia is almost always broken down into "a... | Monocytic leukemia | c0153903 | 2,473 | wikipedia | https://en.wikipedia.org/wiki/Monocytic_leukemia | 2021-01-18T18:47:27 | {"umls": ["C0153903"], "wikidata": ["Q1313618"]} |
## Clinical Features
Hofmann et al. (1984) described isolated (solitary) bladder diverticulum in males of 3 and probably 4 generations. In most patients, the diverticulum was located near the vesicoureteral junction. Moderate sclerosis of the urethral sphincter with a prominent median bar of the prostate was a ... | BLADDER DIVERTICULUM | c0156273 | 2,474 | omim | https://www.omim.org/entry/109820 | 2019-09-22T16:44:25 | {"doid": ["11353"], "mesh": ["C562406"], "omim": ["109820"], "icd-9": ["596.3"], "icd-10": ["N32.3"]} |
A number sign (#) is used with this entry because autosomal dominant mental retardation-5 (MRD5) is caused by heterozygous mutation in the SYNGAP1 gene (603384) on chromosome 6p21. Almost all reported cases have occurred de novo.
Description
MRD5 is characterized by moderate to severe intellectual disability with d... | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 | c2675473 | 2,475 | omim | https://www.omim.org/entry/612621 | 2019-09-22T16:01:00 | {"doid": ["0070035"], "mesh": ["C567234"], "omim": ["612621"], "orphanet": ["178469"], "synonyms": [], "genereviews": ["NBK537721"]} |
Nausea caused by motion
For the album by Bright Eyes, see Motion Sickness.
Motion sickness
Other namesKinetosis, travel sickness, seasickness, airsickness, carsickness, simulation sickness, space motion sickness, space adaptation syndrome
A drawing of people with sea sickness from 1841
SpecialtyNeurology
Sy... | Motion sickness | c0026603 | 2,476 | wikipedia | https://en.wikipedia.org/wiki/Motion_sickness | 2021-01-18T18:29:09 | {"mesh": ["D009041"], "umls": ["C0026603"], "wikidata": ["Q309067"]} |
## Cloning and Expression
Diskin et al. (2009) identified the NBPF23 gene within a copy number variation (CNV) region on chromosome 1q21.1 associated with susceptibility to neuroblastoma (NBLST6; 613017). Real-time quantitative RT-PCR detected highest levels of NBPF23 expression in fetal brain and fetal sympath... | NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 17, PSEUDOGENE | None | 2,477 | omim | https://www.omim.org/entry/612970 | 2019-09-22T16:00:09 | {"omim": ["612970"], "synonyms": ["Alternative titles", "NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 23, PSEUDOGENE"]} |
## Summary
### Clinical characteristics.
EXOSC3 pontocerebellar hypoplasia (EXOSC3-PCH) is characterized by abnormalities in the posterior fossa and degeneration of the anterior horn cells. At birth, skeletal muscle weakness manifests as hypotonia (sometimes with congenital joint contractures) and poor feeding. In ... | EXOSC3 Pontocerebellar Hypoplasia | None | 2,478 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK236968/ | 2021-01-18T21:28:48 | {"synonyms": ["Pontocerebellar Hypoplasia Type 1B (PCH1B)"]} |
## Summary
### Clinical characteristics.
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavat... | Noonan Syndrome | c0028326 | 2,479 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1124/ | 2021-01-18T21:07:32 | {"mesh": ["D009634"], "synonyms": []} |
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: "Ileitis" – news · newspapers · books · scholar · JSTOR (March 2014) (Learn how and when to remove this template message)
Ileitis
S... | Ileitis | c0020877 | 2,480 | wikipedia | https://en.wikipedia.org/wiki/Ileitis | 2021-01-18T18:31:34 | {"mesh": ["D007079"], "umls": ["C0020877"], "wikidata": ["Q3796380"]} |
A number sign (#) is used with this entry because of evidence that congenital myasthenic syndrome-14 (CMS14) is caused by homozygous mutation in the ALG2 gene (607905) on chromosome 9q22.
Description
Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of lim... | MYASTHENIC SYNDROME, CONGENITAL, 14 | c0751882 | 2,481 | omim | https://www.omim.org/entry/616228 | 2019-09-22T15:49:30 | {"doid": ["0110669"], "mesh": ["D020294"], "omim": ["616228"], "orphanet": ["353327", "590"], "synonyms": ["Alternative titles", "MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 3"], "genereviews": ["NBK1168"]} |
Loss of visual acuity associated with illness or aging
Acute visual loss
Other namesAcute vision loss
A Snellen chart, which is frequently used for visual acuity testing
Acute visual loss is a rapid loss of the ability to see. It is caused by many ocular conditions like retinal detachment, glaucoma, macular... | Acute visual loss | c0155002 | 2,482 | wikipedia | https://en.wikipedia.org/wiki/Acute_visual_loss | 2021-01-18T18:29:26 | {"umls": ["C0155002"], "wikidata": ["Q11789224"]} |
A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-11 with or without polydactyly (SRTD11) is caused by homozygous or compound heterozygous mutation in the WDR34 gene (613363) on chromosome 9q34.
Description
Short-rib thoracic dysplasia (SRTD) with or without polydac... | SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY | c0432197 | 2,483 | omim | https://www.omim.org/entry/615633 | 2019-09-22T15:51:22 | {"doid": ["0110095"], "mesh": ["C537602"], "omim": ["615633"], "orphanet": ["93271", "474"]} |
fundoscopy demonstrating age-related macular degeneration.
A maculopathy is any pathological condition of the macula, an area at the centre of the retina that is associated with highly sensitive, accurate vision.[1]
## Forms of maculopathies[edit]
* Age-Related Macular Degeneration is a degenerative maculopathy ... | Maculopathy | c0730362 | 2,484 | wikipedia | https://en.wikipedia.org/wiki/Maculopathy | 2021-01-18T18:47:42 | {"wikidata": ["Q3842207"]} |
## Clinical Features
Freundlich et al. (1981) studied an Israeli-Arab family in which the parents were first cousins and 4 of 11 sibs had a pellagra-like rash with neurologic manifestations. They thoroughly studied 1 sib, a 14-year-old boy who had first been admitted at age 13 months with a red, scaly rash over... | PELLAGRA-LIKE SYNDROME | c1850052 | 2,485 | omim | https://www.omim.org/entry/260650 | 2019-09-22T16:23:37 | {"mesh": ["C538352"], "omim": ["260650"], "orphanet": ["2837"], "synonyms": []} |
Post-thrombotic syndrome
Other namespostphlebitic syndrome, venous stress disorder
Person with post-thrombotic syndrome and leg ulcers
SpecialtyHematology
Post-thrombotic syndrome (PTS), also called postphlebitic syndrome and venous stress disorder is a medical condition that may occur as a long-term compl... | Post-thrombotic syndrome | c0032807 | 2,486 | wikipedia | https://en.wikipedia.org/wiki/Post-thrombotic_syndrome | 2021-01-18T18:56:35 | {"mesh": ["D054070", "D011186"], "umls": ["C0032807"], "wikidata": ["Q382091"]} |
A number sign (#) is used with this entry because autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA (mtDNA) deletions-2 (PEOA2) is caused by heterozygous mutation in the nuclear-encoded ANT1 gene (SLC25A4; 103220) on chromosome 4q35.
Heterozygous mutation in the SLC25A4 gene ... | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 | c1834846 | 2,487 | omim | https://www.omim.org/entry/609283 | 2019-09-22T16:06:20 | {"mesh": ["C563575"], "omim": ["157640", "609283"], "orphanet": ["254892"], "synonyms": ["adPEO", "Alternative titles", "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2"], "genereviews": ["NBK487393"]} |
## Clinical Features
Turnpenny et al. (1994, 1995) reported a 4-generation Scottish family in which several members had ectodermal dysplasia predominantly affecting the teeth, but also involving the hair and skin. Hypo/oligodontia of the secondary dentition was characteristic by late adolescence, but 2 individuals ... | ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE | c1832444 | 2,488 | omim | https://www.omim.org/entry/601345 | 2019-09-22T16:15:12 | {"mesh": ["C563347"], "omim": ["601345"], "orphanet": ["69083"], "synonyms": ["Alternative titles", "ECTODERMAL DYSPLASIA, HAIR/TOOTH TYPE"]} |
A rare ophthalmic disorder characterized by inflammation of the posterior uveal tract (retina and choroid), due to an infectious etiology. Presenting symptoms are decreased visual acuity, visual field defects, floaters, photopsia, photophobia, and occasionally pain. Signs on examination include conjunctival injection... | Infectious posterior uveitis | None | 2,489 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=279919 | 2021-01-23T17:46:14 | {"icd-10": ["H30.9"]} |
Fear of cats
Ailurophobia
Other namesfelinophobia, elurophobia, felinophobia
Pronunciation
* ai-loor-oh-FOH-be-uh
SpecialtyPsychology
Ailurophobia is a type of specific phobia: the persistent, excessive fear of cats.[1] The name comes from the Greek words αἴλουρος (ailouros), 'cat' and φόβος (phó... | Ailurophobia | None | 2,490 | wikipedia | https://en.wikipedia.org/wiki/Ailurophobia | 2021-01-18T18:41:56 | {"wikidata": ["Q405385"]} |
## Summary
### Clinical characteristics.
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is characterized early in the disease course by central nervous system involvement including corticospinal tract involvement (spasticity), mixed movement disorder (ataxia/dystonia), and eye findings (optic atroph... | Fatty Acid Hydroxylase-Associated Neurodegeneration | c3668943 | 2,491 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK56080/ | 2021-01-18T21:26:05 | {"mesh": ["C580102"], "synonyms": []} |
A number sign (#) is used with this entry because this disorder is caused by copy number increase of a small region on distal chromosome Xq28. One report has identified a 0.3-Mb region of Xq28 (chrX:153.2-153.5 Mb, NCBI36) containing at least 11 genes and including the GDI1 gene (300104), which is mutated in MRX41 (3... | CHROMOSOME Xq28 DUPLICATION SYNDROME | c1846058 | 2,492 | omim | https://www.omim.org/entry/300815 | 2019-09-22T16:19:33 | {"mesh": ["C537723"], "omim": ["300815"], "orphanet": ["293939", "1762"], "synonyms": ["Distal dup(X)q(28)", "Distal trisomy Xq28"], "genereviews": ["NBK349624"]} |
Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in childhood, and their severity varies over time. In most cases, tics become milder and less frequent in late adolescence and adulthood.
Tourette syndrome involves both m... | Tourette syndrome | c0040517 | 2,493 | medlineplus | https://medlineplus.gov/genetics/condition/tourette-syndrome/ | 2021-01-27T08:25:35 | {"gard": ["7783"], "mesh": ["D005879"], "omim": ["137580"], "synonyms": []} |
Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and... | Neonatal inflammatory skin and bowel disease | c3280501 | 2,494 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=294023 | 2021-01-23T18:18:37 | {"omim": ["614328", "616069"]} |
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources.
Find sources: "Precancerous condition" – news · newspapers · books · scholar · JSTOR (July 2012)
Precancerous condition... | Precancerous condition | c0032927 | 2,495 | wikipedia | https://en.wikipedia.org/wiki/Precancerous_condition | 2021-01-18T18:48:59 | {"mesh": ["D011230"], "umls": ["C0032927"], "wikidata": ["Q1088163"]} |
Shigellosis
Other namesBacillary dysentery, Marlow syndrome
Shigella seen in a stool sample
SpecialtyInfectious disease
SymptomsDiarrhea, fever, abdominal pain[1]
ComplicationsReactive arthritis, sepsis, seizures, hemolytic uremic syndrome[1]
Usual onset1–2 days post exposure[1]
DurationUsually 5–7 ... | Shigellosis | c0302361 | 2,496 | wikipedia | https://en.wikipedia.org/wiki/Shigellosis | 2021-01-18T18:46:02 | {"gard": ["4818"], "mesh": ["D004405"], "umls": ["C0302361"], "orphanet": ["810"], "wikidata": ["Q327298"]} |
Von Deimling and de Looze (1983) characterized butyrylesterase-1 in 14 mammalian species including man. They could not group it with any of the known esterases within the system of enzymes recommended by the International Union for Biochemistry (IUB) and therefore proposed that this enzyme be assigned to a new es... | BUTYRYLESTERASE 1 | c1861981 | 2,497 | omim | https://www.omim.org/entry/113960 | 2019-09-22T16:43:55 | {"omim": ["113960"]} |
A number sign (#) is used with this entry because of evidence that Hartsfield syndrome (HRTFDS) is caused by heterozygous mutation in the FGFR1 gene (136350) on chromosome 8p11.
Description
Hartsfield syndrome classically refers to the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental ... | HARTSFIELD SYNDROME | c1845146 | 2,498 | omim | https://www.omim.org/entry/615465 | 2019-09-22T15:52:05 | {"mesh": ["C564484"], "omim": ["615465"], "orphanet": ["2117"], "synonyms": ["Alternative titles", "HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE"], "genereviews": ["NBK349073"]} |
Trisomy 8
Chromosome 8
SpecialtyMedical genetics
Trisomy 8 causes Warkany syndrome 2,[1] a human chromosomal disorder caused by having three copies (trisomy) of chromosome 8. It can appear with or without mosaicism.
## Contents
* 1 Characteristics
* 1.1 Other conditions
* 2 Diagnosis
* 3 See also... | Trisomy 8 | c0432412 | 2,499 | wikipedia | https://en.wikipedia.org/wiki/Trisomy_8 | 2021-01-18T19:03:02 | {"mesh": ["C537942"], "icd-10": ["Q92"], "wikidata": ["Q2454191"]} |
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