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
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 - -
05620 MKHK Menke-Hennekam syndrome - - 2 1 CREBBP - -
05621 MKHK1 Menke-Hennekam syndrome, type 1 (MKHK-1) 618332 AD 3 3 CREBBP - -
05619 RSTS Rubinstein-Taybi syndrome (RSTS) - - 79 77 CREBBP, EP300 - -
00714 RSTS1 Rubinstein-Taybi syndrome, type 1 180849 AD 209 30 CREBBP - -
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