combined oxidative phosphorylation deficiency 34

Summary

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 combined oxidative phosphorylation defect, syndromic sensorineural deafness due to COXPD, syndromic sensorineural hearing loss due to COXPD

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

: mrps7

MIM:

MIM:617872 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34; COXPD34

MIM:617872 - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34; COXPD34

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)