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
05438 COXPD34 combined oxidative phosphorylation deficiency, type 34 (COXPD-34) 617872 AR - - MRPS7 - autosomal recessive
05484 DBA anemia, Diamond-Blackfan (DBA) - - 790 706 RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7 - -
03157 DBA8 anemia, Diamond-Blackfan, type 8 (DBA8) 612563 AD - - RPS7 - -
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