OBO ID: DOID:0111490
Term Name: combined oxidative phosphorylation deficiency 26 Search Ontology:
Synonyms:
  • COXPD26
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT5 on chromosome 14q23.1. https://www.ncbi.nlm.nih.gov/pubmed/26189817
References:
Ontology: Human Disease   (DOID:0111490)
OTHER combined oxidative phosphorylation deficiency 26 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRMT5 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 616539
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None