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Metadata
ID	DOID:0070428
Name	combined oxidative phosphorylation deficiency 55
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/33602924/
Xrefs	MIM:619743
SKOS	exactMatch MIM:619743
Synonyms	COXPD55 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal genetic disease
Subclass Logical Relationships	has material basis in some autosomal inheritance