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Summary Literature (0)
DOID:0111479 - combined oxidative phosphorylation deficiency 8

Disease Ontology Definition:A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1.

Synonyms: COXPD8

Xenbase Genes : aars2


MIM:
MIM:614096 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8

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)