Visualize Submit Comment

Metadata
ID	DOID:0111475
Name	combined oxidative phosphorylation deficiency 39
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. https://www.ncbi.nlm.nih.gov/pubmed/22700954
Xrefs	MIM:618397
Synonyms	COXPD39 [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