Visualize Submit Comment

Metadata
ID	DOID:0111468
Name	combined oxidative phosphorylation deficiency 25
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. https://www.ncbi.nlm.nih.gov/pubmed/25754315
Xrefs	MIM:616430 ORDO:447954
Subsets	DO_rare_slim
Synonyms	COXPD25 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease