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Metadata
ID	DOID:0070427
Name	combined oxidative phosphorylation deficiency 54
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. https://pubmed.ncbi.nlm.nih.gov/34715011/
Xrefs	MIM:619737
SKOS	exactMatch MIM:619737
Synonyms	COXPD54 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance