OBO ID: DOID:0111495
Term Name: combined oxidative phosphorylation deficiency 33 Search Ontology:
Synonyms:
  • COXPD33
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C1QBP on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/28942965
References:
Ontology: Human Disease   (DOID:0111495)
OTHER combined oxidative phosphorylation deficiency 33 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
C1QBP Combined oxidative phosphorylation deficiency 33 617713
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None