FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Scott syndrome ID (Ontology) DOID:0111052 (Human Disease)
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.
Also Known As "BDPLT7" ; "bleeding abnormality due to deficiency of platelet biding of factor X" ; "familial prothrombin consumption inhibitor" (for all, see Synonyms field below)
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 Genes
 Scott syndrome       3
 for disease ribbon | Scott syndrome       3
 model of | Scott syndrome       3
Spanning Tree (Parents/Children)
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  hematopoietic system disease
   |__blood coagulation disease
       |__Scott syndrome  3 rec.
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Is a blood coagulation disease
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Synonyms
  • "BDPLT7" EXACT OMO:0003012
    "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT
    "familial prothrombin consumption inhibitor" EXACT
    "familial prothrombin conversion defect" EXACT
    "platelet-type bleeding disorder 7" EXACT
    "prothrombin consumption deficiency" EXACT
    "SCTS" EXACT OMO:0003012
Secondary IDs
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GARD:4777
MESH:C563120
MIM:262890
ORDO:806
SNOMEDCT_US_2023_03_01:128098009
UMLS_CUI:C0796149