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
00809 CMT2O Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O) 614228 AD 4 4 DYNC1H1 - -
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 - -
00810 MRD13 mental retardation, autosomal dominant, type 13 (MRD13) 614563 AD 1 1 DYNC1H1 - -
00811 SMALED1 atrophy, muscular, spinal, lower extremity, autosomal dominant- Spinal muscular atrophy, lower extremity-predominant, type 1 (SMALED1) 158600 AD 1 1 DYNC1H1 - -
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