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DOID:0111497 - combined oxidative phosphorylation deficiency 34
Disease Ontology Definition:A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1.
Synonyms: COXPD34, syndromic sensorineural deafness due to COXPD, syndromic sensorineural deafness due to combined oxidative phosphorylation defect, syndromic sensorineural hearing loss due to COXPD,
Xenbase Genes : mrps7
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee