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Disease Ontology Browser
combined oxidative phosphorylation deficiency 27 (DOID:0111489)
Alliance: disease page
Synonyms: COXPD27
Alt IDs: OMIM:616672, ORDO:477774
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in CARS2 on chromosome 13q34.


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
02/18/2020
MGI 6.14
The Jackson Laboratory