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Metadata
ID	DOID:0112137
Name	combined oxidative phosphorylation deficiency 51
Definition	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. https://pubmed.ncbi.nlm.nih.gov/30607703/
Xrefs	MIM:619057
Synonyms	COXPD51 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease