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
03301 CMT2N Charcot-Marie-Tooth disease, type 2N (CMT2N) 613287 AD - - AARS - -
03546 COXPD8 combined oxidative phosphorylation deficiency, type 8 (COXPD-8) 614096 AR - - AARS2 - -
04342 DEE29 encephalopathy, developmental and epileptic, type 29 (DEE29) 616339 AR - - AARS - -
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 - -
04123 LKENP leukoencephalopathy, progressive, with ovarian failure 615889 AR - - AARS2 - -
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