OBO ID: DOID:0112117
Term Name: combined oxidative phosphorylation deficiency 40 Search Ontology:
Synonyms:
  • COXPD40
  • QRSL1-related COXPD
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in QRSL1 on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/26741492/
References:
Ontology: Human Disease   (DOID:0112117)
OTHER combined oxidative phosphorylation deficiency 40 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
QRSL1 Combined oxidative phosphorylation deficiency 40 618835
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None