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
02650 FCORD2 dysplasia, cortical, focal type II (FCORD-2) 607341 - 4 - MTOR, TSC1, TSC2 - -
00139 ID intellectual disability (ID) - - 2351 2050 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
00317 LAM lymphangioleiomyomatosis (LAM) 606690 - 27 27 TSC1, TSC2 - -
05330 TSC tuberous sclerosis - - 8203 8197 TSC1, TSC2 - -
00189 TSC2 tuberous sclerosis, type 2 613254 AD 17 21 IFNG, TSC2 - -
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