All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
02495 MCPH-2 microcephaly, type 2, autosomal recessive, with or without cortical malformations (MCPH-2) 604317 - - - WDR62 - -
03972 SRTD-8;SRPS-6 dysplasia, thoracic, short-rib, type 8 with or without polydactyly (SRTD-8, short rib polydactyly syndrome 6 (SRPS-6)) 615503 - - - WDR60 - -
00547 VWS-2 Van Der Woude syndrome, type 2 (VWS-2) 606713 - - - GRHL3, WDR65 - -
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