Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 34

Term ID
DOID:0111497
Synonyms
  • COXPD34
  • syndromic sensorineural deafness due to combined oxidative phosphorylation defect
  • syndromic sensorineural deafness due to COXPD
  • syndromic sensorineural hearing loss due to COXPD
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. https://www.ncbi.nlm.nih.gov/pubmed/25556185
References
Ontology
Human Disease   ( DOID:0111497 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models