combined oxidative phosphorylation deficiency 44 Disease Ontology Browser

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Disease Ontology Browser

combined oxidative phosphorylation deficiency 44 (DOID:0070424)
Alliance: disease page
Synonyms: COXPD44
Alt IDs: OMIM:618855, ORDO:166105
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33.

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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