Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 9

Term ID
DOID:0111472
Synonyms
  • COXPD9
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. https://www.ncbi.nlm.nih.gov/pubmed/21786366
References
Ontology
Human Disease   ( DOID:0111472 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models