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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 : txn2
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee