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Metadata
ID	DOID:0111473
Name	combined oxidative phosphorylation deficiency 5
Definition	A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. https://www.ncbi.nlm.nih.gov/pubmed/17873122, https://www.ncbi.nlm.nih.gov/pubmed/21189481
Xrefs	MESH:C567126 OMIM:611719 ORDO:137908
Subsets	DO_rare_slim
Synonyms	COXPD5 [EXACT] hypotonia with lactic acidemia and hyperammonemia [EXACT]
Parent Relationships	is_a combined oxidative phosphorylation deficiency is_a autosomal recessive disease