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Disease Ontology Browser
combined oxidative phosphorylation deficiency 48 (DOID:0112112)
Alliance: disease page
Synonyms: 'COXPD48'
Alt IDs: OMIM:619012
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2.


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
06/23/2022
MGI 6.20
The Jackson Laboratory