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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, ORDO:137908
Definition: A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23.


Contributing Projects:
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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last database update
11/10/2020
MGI 6.16
The Jackson Laboratory