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Metadata
ID	DOID:0070503
Name	mitochondrial complex IV deficiency nuclear type 18
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. https://pubmed.ncbi.nlm.nih.gov/31155743/
Xrefs	MIM:619062 UMLS_CUI:C5436720
SKOS	exactMatch MIM:619062 exactMatch UMLS_CUI:C5436720
Synonyms	MC4DN18 [EXACT]
Parent Relationships	is_a COX deficiency, benign infantile mitochondrial myopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance