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
03374 CMTRIB Charcot-Marie-Tooth disease, recessive intermediate B (CMTRIB) 613641 AR - - KARS - -
05912 DEAPLE deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) 619196 AR - - KARS - -
03486 DFNB89 deafness, autosomal recessive, type 89 (DFNB89) 613916 AR 1 1 KARS - -
05913 LEPID leukoencephalopathy, progressive, infantile-onset, with/without deafness (LEPID) 619147 AR 9 9 KARS - -
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