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
01410 HKPX hyperekplexia, hereditary (HKPX) 149400 AD;AR 38 37 GLRA1, GPHN - -
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 - -
05759 MOCOD deficiency, Molybdenum cofactor (MOCOD) - - 24 24 GPHN, MOCS1, MOCS2 - -
03970 MOCODC deficiency, Molybdenum cofactor, complementation group C (MOCODC) 615501 AR - - GPHN - -
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