OBO ID: DOID:0111497
Term Name: combined oxidative phosphorylation deficiency 34 Search Ontology:
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 MRPS7 on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/25556185
References:
Ontology: Human Disease   (DOID:0111497)
OTHER combined oxidative phosphorylation deficiency 34 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPS7 ?Combined oxidative phosphorylation deficiency 34 617872
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None