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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 AARS2 on chromosome 6p21.1.
Synonyms: COXPD8,
Xenbase Genes

OMIM:614096 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee