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Metadata
ID	DOID:0070492
Name	mitochondrial complex IV deficiency nuclear type 3
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. https://pubmed.ncbi.nlm.nih.gov/12928484/, https://pubmed.ncbi.nlm.nih.gov/10767350/
Xrefs	MIM:619046 UMLS_CUI:C5436682
SKOS	exactMatch UMLS_CUI:C5436682 exactMatch MIM:619046
Synonyms	MC4DN3 [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