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Metadata
ID	DOID:0111489
Name	combined oxidative phosphorylation deficiency 27
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. https://www.ncbi.nlm.nih.gov/pubmed/25787132, https://www.ncbi.nlm.nih.gov/pubmed/25361775
Xrefs	MIM:616672 ORDO:477774
Subsets	DO_rare_slim
Synonyms	COXPD27 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance