Visualize Submit Comment

Metadata
ID	DOID:0111495
Name	combined oxidative phosphorylation deficiency 33
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/28942965
Xrefs	MIM:617713
Synonyms	COXPD33 [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