OBO ID: DOID:0111052
Term Name: Scott syndrome Search Ontology:
Synonyms:
  • BDPLT7
  • bleeding abnormality due to deficiency of platelet biding of factor X
  • familial prothrombin consumption inhibitor
  • familial prothrombin conversion defect
  • platelet-type bleeding disorder 7
  • prothrombin consumption deficiency
  • SCTS
Definition: A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. (2)
References:
Ontology: Human Disease   (DOID:0111052)
OTHER Scott syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ANO6 Scott syndrome 262890
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None