All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00574 del 2q37;BDMR chromosome deletion syndrome 2q37 (brachydactyly mental retardation syndrome (BDMR)) 600430 AD 4 2 HDAC4 - autosomal dominant
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06993 NEDCHF neurodevelopmental disorder with central hypotonia and dysmorphic facies 619797 AD - - HDAC4 - round face, frontal bossing, deep-set eyes, up-slanting palpebral fissures, broad nose, depressed nasal bridge, anteverted nares, thin upper lip; no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); self-injurious behaviour, sleeping difficulties, congenital heart anomalies, X-ray features of brachydactyly type E
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