combined oxidative phosphorylation deficiency 39 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 39 (DOID:0111475)
Alliance: disease page
Synonyms: COXPD39
Alt IDs: OMIM:618397
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3.

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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