OBO ID: DOID:0111501
Term Name: combined oxidative phosphorylation deficiency 29 Search Ontology:
Synonyms:
  • COXPD29
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3. https://www.ncbi.nlm.nih.gov/pubmed/26626369
References:
Ontology: Human Disease   (DOID:0111501)
OTHER combined oxidative phosphorylation deficiency 29 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TXN2 ?Combined oxidative phosphorylation deficiency 29 616811
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None