Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 6

Term ID
DOID:0111502
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 the AIFM1 gene on chromosome Xq26.1. https://www.ncbi.nlm.nih.gov/pubmed/20362274
References
Ontology
Human Disease   ( DOID:0111502 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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