combined oxidative phosphorylation deficiency 30 Disease Ontology Browser

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Disease Ontology Browser

combined oxidative phosphorylation deficiency 30 (DOID:0111471)
Alliance: disease page
Synonyms: COXPD30
Alt IDs: OMIM:616974, ORDO:478042
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3.

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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