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Metadata
ID	DOID:0070507
Name	mitochondrial complex IV deficiency nuclear type 22
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. https://pubmed.ncbi.nlm.nih.gov/33169484/
Xrefs	MIM:619355 UMLS_CUI:C5543491
SKOS	exactMatch MIM:619355 exactMatch UMLS_CUI:C5543491
Synonyms	MC4DN22 [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