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Disease Ontology Browser
combined oxidative phosphorylation deficiency 51 (DOID:0112137)
Alliance: disease page
Synonyms: 'COXPD51'
Alt IDs: OMIM:619057
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in PTCD3 on chromosome 2p11.2.

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