combined oxidative phosphorylation deficiency 23 Disease Ontology Browser

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combined oxidative phosphorylation deficiency 23 (DOID:0111500)
Alliance: disease page
Synonyms: COXPD23
Alt IDs: OMIM:616198, ORDO:444013
Definition: A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11.

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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