Visualize Submit Comment

Metadata
ID	DOID:0111479
Name	combined oxidative phosphorylation deficiency 8
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. https://www.ncbi.nlm.nih.gov/pubmed/21549344
Xrefs	MIM:614096 ORDO:319504
Subsets	DO_rare_slim
Synonyms	COXPD8 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease