Visualize Submit Comment

Metadata
ID	DOID:0112116
Name	combined oxidative phosphorylation deficiency 43
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/30452684/
Xrefs	MIM:618851
Synonyms	COXPD43 [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