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
02635 CDG1G glycosylation, congenital disorder of, type Ig (CDG-1G) 607143 AR 3 1 ALG12 - -
02762 CDG1K glycosylation, congenital disorder of, type Ik (CDG-1K) 608540 AR 40 39 ALG1 - -
03383 CDG1P glycosylation, congenital disorder of, type IP (CDG-1P) 613661 AR 4 4 ALG11 - -
04320 CMS15 myasthenic syndrome, congenital, type 15, without tubular aggregates (CMS-15) 616227 AR - - ALG14 - -
02197 EIEE36;CDG1S epileptic encephalopathy, early infantile, 36 300884 XLD - - ALG13 - -
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 - -
00405 LQT2 QT syndrome, long, type 2 (LQT-2) 613688 AD 288 288 ALG10, KCNH2 - -
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