OBO ID: DOID:0111472
Term Name: combined oxidative phosphorylation deficiency 9 Search Ontology:
Synonyms:
  • COXPD9
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1. https://www.ncbi.nlm.nih.gov/pubmed/21786366
References:
Ontology: Human Disease   (DOID:0111472)
OTHER combined oxidative phosphorylation deficiency 9 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MRPL3 Combined oxidative phosphorylation deficiency 9 614582
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None