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Disease Ontology Browser
combined oxidative phosphorylation deficiency 20 (DOID:0111478)
Alliance: disease page
Synonyms: COXPD20
Alt IDs: OMIM:615917, ORDO:420728
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33.

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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MGI 6.17
The Jackson Laboratory