OBO ID: DOID:0112116
Term Name: combined oxidative phosphorylation deficiency 43 Search Ontology:
Synonyms:
  • COXPD43
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TIMM22 on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/30452684/
References:
Ontology: Human Disease   (DOID:0112116)
OTHER combined oxidative phosphorylation deficiency 43 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TIMM22 ?Combined oxidative phosphorylation deficiency 43 618851
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None