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Metadata
ID	DOID:0070498
Name	mitochondrial complex IV deficiency nuclear type 12
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. https://pubmed.ncbi.nlm.nih.gov/24462369/
Xrefs	MIM:619055 UMLS_CUI:C5436695
SKOS	exactMatch UMLS_CUI:C5436695 exactMatch MIM:619055
Synonyms	MC4DN12 [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