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Summary Literature (0)
DOID:0111496 - combined oxidative phosphorylation deficiency 17

Disease Ontology 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 the ELAC2 gene on chromosome 17p12.

Synonyms: COXPD17

Xenbase Genes : elac2


MIM:
MIM:615440 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)