Search Ontology:
Human Disease

Scott syndrome

Term ID
DOID:0111052
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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