combined oxidative phosphorylation deficiency 5

Summary

DOID:0111473 - combined oxidative phosphorylation deficiency 5

Disease Ontology 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.

Synonyms: COXPD5, hypotonia with lactic acidemia and hyperammonemia,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mrps22

OMIM:

MIM:611719 - combined oxidative phosphorylation deficiency 5; coxpd5

MIM:611719 - combined oxidative phosphorylation deficiency 5; coxpd5

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)