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
06561 COXPD30 Combined oxidative phosphorylation deficiency 30 616974 AR - - TRMT10C - -
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 - -
06437 MRT68 intellectual developmental disorder, autosomal recessive, type 68 618302 AR - - TRMT1 - -
06613 MSSGM1 Microcephaly, short stature, and impaired glucose metabolism 1 616033 AR - - TRMT10A - -
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