All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
07224 BNS Becker nevus syndrome 604919 - - - ACTB - -
05692 BRWS Baraitser-Winter syndrome (BRWS) - - 42 42 ACTB, ACTG1 - -
00626 BRWS1 Baraitser-Winter syndrome, type 1 (BRWS1) 243310 AD 3 2 ACTB - intellectual disability, seizures, sensorineural hearing loss, cerebral abnormalities, renal abnormalities, ocular abnormalities, dysmorphic features
07225 CSMH hamartoma, smooth muscle, congenital, with/without hemihypertrophy 620470 - - - ACTB - -
00625 DDS1 dystonia-deafness syndrome, type 1 607371 AD 3 1 ACTB - -
00139 ID intellectual disability (ID) - - 2792 2473 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
07226 THC8 thrombocytopenia, type 8, with dysmorphic features and developmental delay 620475 AD - - ACTB - -
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