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Disease Ontology Browser
combined oxidative phosphorylation deficiency 5 (DOID:0111473)
Alliance: disease page
Synonyms: COXPD5; hypotonia with lactic acidemia and hyperammonemia
Alt IDs: OMIM:611719, MESH:C567126, ORDO:137908
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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MGI 6.22
The Jackson Laboratory