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Term:Scott syndrome
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Accession:DOID:0111052 term browser browse the term
Definition:An inherited 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. (DO)
Synonyms:exact_synonym: BDPLT7;   SCTS;   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
 primary_id: MESH:C563120
 alt_id: OMIA:001353;   OMIM:262890;   RDO:0012514
 xref: GARD:4777;   ORDO:806
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Scott syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano6 anoctamin 6 JBrowse link 7 137,142,063 137,335,208 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      Scott syndrome 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      Hemic and Lymphatic Diseases 1742
        hematopoietic system disease 1465
          blood coagulation disease 502
            inherited blood coagulation disease 99
              Scott syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.