All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00615 DBPD protein deficiency, D-bifunctional (DBPD) 261515 AR 55 55 HSD17B4 - -
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00616 PRLTS Perrault syndrome - - 32 32 C10orf12, CLPP, DAP3, ERAL1, HARS2, HSD17B4, LARS2 - -
05966 PRLTS1 Perrault syndrome, type 1 233400 AR - - HSD17B4 - -
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