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Echinobase
Summary Literature (0)
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 : mrps22


OMIM:
MIM:611719 - combined oxidative phosphorylation deficiency 5; coxpd5

Other Model Organisms: Alliance, 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)