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Metadata
ID	DOID:0112111
Name	combined oxidative phosphorylation deficiency 50
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. https://pubmed.ncbi.nlm.nih.gov/31039582/
Xrefs	MIM:619025
Synonyms	COXPD50 [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