OBO ID: DOID:0111502
Term Name: combined oxidative phosphorylation deficiency 6 Search Ontology:
Synonyms:
  • COXPD6
  • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
  • Mitochondrial encephalomyopathy due to COXPD6
  • severe X-linked mitochondrial encephalomyopathy
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1. https://www.ncbi.nlm.nih.gov/pubmed/20362274
References:
Ontology: Human Disease   (DOID:0111502)
OTHER combined oxidative phosphorylation deficiency 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AIFM1 Combined oxidative phosphorylation deficiency 6 300816
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None