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Disease Ontology Browser
combined oxidative phosphorylation deficiency 9 (DOID:0111472)
Alliance: disease page
Synonyms: COXPD9
Alt IDs: OMIM:614582, ORDO:319509
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1.


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
02/20/2024
MGI 6.23
The Jackson Laboratory