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
02720 CDG1I glycosylation, congenital disorder of, type Ii (CDG-1I) 607906 AR 0 0 ALG2 - -
04355 CMS14 myasthenic syndrome, congenital, type 14, with tubular aggregates (CMS-14) 616228 AR 0 0 ALG2 - -
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 - -
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