combined oxidative phosphorylation deficiency 46 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 46 (DOID:0112115)
Alliance: disease page
Synonyms: COXPD46
Alt IDs: OMIM:618952
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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