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Metadata
ID	DOID:0070504
Name	mitochondrial complex IV deficiency nuclear type 19
Definition	A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. https://pubmed.ncbi.nlm.nih.gov/28386624/
Xrefs	MIM:619063 UMLS_CUI:C5436723
SKOS	exactMatch UMLS_CUI:C5436723 exactMatch MIM:619063
Synonyms	MC4DN19 [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