Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 7

Term ID
DOID:0111487
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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