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
01296 DYT5 dystonia, type 5, dopa-responsive type (DYT-5) 128230 AD;AR 3 3 GCH1 - -
05683 HPA hyperphenylalaninemia (HPA) - AD 37 37 GCH1, PCBD1, PTS, QDPR - -
01833 HPABH4B hyperphenylalaninemia, BH4-deficient, type B 233910 AR - - GCH1 - -
00139 ID intellectual disability (ID) - - 2698 2380 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
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