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Disease Ontology Browser
combined oxidative phosphorylation deficiency 17 (DOID:0111496)
Alliance: disease page
Synonyms: COXPD17
Alt IDs: OMIM:615440, ORDO:369913
Definition: A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12.

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 6.17
The Jackson Laboratory