Visualize Submit Comment

Metadata
ID	DOID:0111498
Name	combined oxidative phosphorylation deficiency 22
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. https://www.ncbi.nlm.nih.gov/pubmed/23596069
Xrefs	MIM:616045
Synonyms	COXPD22 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease