Visualize Submit Comment

Metadata
ID	DOID:0070485
Name	mitochondrial complex IV deficiency nuclear type 23
Definition	A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/36030551/
Xrefs	MIM:620275 UMLS_CUI:C5830322
Synonyms	MC4DN23 [EXACT]
Parent Relationships	is_a cytochrome-c oxidase deficiency disease is_a autosomal recessive disease