combined oxidative phosphorylation deficiency 2 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 2 (DOID:0111483)
Alliance: disease page
Synonyms: agenesis of corpus callosum with dysmorphism and fatal lactic acidosis; COXPD2
Alt IDs: OMIM:610498, MESH:C566468, ORDO:254920
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2.

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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