Term Name: | Scott syndrome |
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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. |
Ontology: | Human Disease [DOID:0111052] ( DOID:0111052 ) |