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
00139 ID intellectual disability (ID) - - 2195 1894 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
05888 NEDCAS neurodevelopmental disorder with cerebellar atrophy, with/without seizures (NEDCAS) 618056 AR 0 0 BRAT1 - -
00921 RMFSL rigidity and multifocal seizure, lethal neonatal syndrome (RMFSL) 614498 AR 5 5 BRAT1 - autosomal recessive
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