combined oxidative phosphorylation deficiency 4 Disease Ontology Browser

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Disease Ontology Browser

combined oxidative phosphorylation deficiency 4 (DOID:0111494)
Alliance: disease page
Synonyms: COXPD4
Alt IDs: OMIM:610678, MESH:C565690, ORDO:254925, UMLS_CUI:C1857682
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2.

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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