OBO ID: DOID:0111487
Term Name: combined oxidative phosphorylation deficiency 7 Search Ontology:
Synonyms:
  • COXPD7
  • severe C12ORF65-related combined oxidative phosphorylation defect
  • severe C12ORF65-related COXPD
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. https://www.ncbi.nlm.nih.gov/pubmed/20598281
References:
Ontology: Human Disease   (DOID:0111487)
OTHER combined oxidative phosphorylation deficiency 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTRFR Combined oxidative phosphorylation deficiency 7 613559
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None