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Metadata
ID	DOID:0111500
Name	combined oxidative phosphorylation deficiency 23
Definition	A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. https://www.ncbi.nlm.nih.gov/pubmed/25434004
Xrefs	OMIM:616198 ORDO:444013
Subsets	DO_rare_slim
Synonyms	COXPD23 [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease