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Metadata
ID	DOID:0070506
Name	mitochondrial complex IV deficiency nuclear type 21
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. https://pubmed.ncbi.nlm.nih.gov/23746447/
Xrefs	MIM:619065 UMLS_CUI:C5436727
SKOS	exactMatch UMLS_CUI:C5436727 exactMatch MIM:619065
Synonyms	MC4DN21 [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