OBO ID: DOID:0111494
Term Name: combined oxidative phosphorylation deficiency 4 Search Ontology:
Synonyms:
  • COXPD4
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2. https://www.ncbi.nlm.nih.gov/pubmed/17160893
References:
Ontology: Human Disease   (DOID:0111494)
OTHER combined oxidative phosphorylation deficiency 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TUFM Combined oxidative phosphorylation deficiency 4 610678
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None