combined oxidative phosphorylation deficiency 16 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 16 (DOID:0111469)
Alliance: disease page
Synonyms: COXPD16; infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Alt IDs: OMIM:615395, ORDO:352563
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the MRPL44 gene on chromosome 2q36.1.

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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