combined oxidative phosphorylation deficiency 7 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 7 (DOID:0111487)
Alliance: disease page
Synonyms: COXPD7; severe C12ORF65-related combined oxidative phosphorylation defect; severe C12ORF65-related COXPD
Alt IDs: OMIM:613559, ORDO:254930
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.

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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