All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00649 - SC phocomelia syndrome 269000 AR 3 3 ESCO2 - -
02504 CEMCOX1 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 AR 1 1 SCO2 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
02803 MYP6 myopia, type 6 (MYP6) 608908 AD - - SCO2 - -
00648 RBS Roberts syndrome (RBS) 268300 AR 40 40 ESCO2 - -
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