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Disease Ontology Browser
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, ORDO:254920
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 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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last database update
MGI 6.20
The Jackson Laboratory