combined oxidative phosphorylation deficiency 29

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Summary

Literature (0)

DOID:0111501 - combined oxidative phosphorylation deficiency 29

Disease Ontology Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3.

Synonyms: COXPD29

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

: txn2

MIM:

MIM:616811 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29

MIM:616811 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29

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)