combined oxidative phosphorylation deficiency 55 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 55 (DOID:0070428)
Alliance: disease page
Synonyms: COXPD55
Alt IDs: OMIM:619743
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13.

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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