combined oxidative phosphorylation deficiency 45 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 45 (DOID:0112113)
Alliance: disease page
Synonyms: COXPD45
Alt IDs: OMIM:618951
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3.

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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