combined oxidative phosphorylation deficiency 25

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Summary

Literature (0)

DOID:0111468 - combined oxidative phosphorylation deficiency 25

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1.

Synonyms: COXPD25

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

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

: mars2

MIM:

MIM:616430 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25

MIM:616430 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25

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)