Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 42

Term ID
DOID:0112118
Synonyms
  • COXPD42
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/30283131/
References
Ontology
Human Disease   ( DOID:0112118 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models