Scott syndrome (DOID:0111052)
Alliance: disease page
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
Alt IDs: OMIM:262890, MESH:C563120, ORDO:806, UMLS_CUI:C0796149
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.