Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 1

Term ID
DOID:0111474
Synonyms
  • COXPD1
  • early fatal progressive hepatoencephalopathy
  • hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • hepatoencephalopathy due to COXPD1
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1
References
Ontology
Human Disease   ( DOID:0111474 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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