All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03185 CCDS deficiency, cerebral creatine, syndrome (CCDS) - - 0 0 GAMT, GATM, SLC6A8 - -
03186 CCDS2;GAMTD deficiency, cerebral creatine, syndrome, type 2 (CCDS2, guanidinoacetate methyltransferase deficiency (GAMTD)) 612736 AR 101 101 GAMT - autosomal recessive
00139 ID intellectual disability (ID) - - 2195 1894 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
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