OBO ID: DOID:0111471
Term Name: combined oxidative phosphorylation deficiency 30 Search Ontology:
Synonyms:
  • COXPD30
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3. https://www.ncbi.nlm.nih.gov/pubmed/27132592
References:
Ontology: Human Disease   (DOID:0111471)
OTHER combined oxidative phosphorylation deficiency 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRMT10C Combined oxidative phosphorylation deficiency 30 616974
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None