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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

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Path 1
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  disease 14759
    syndrome 4210
      Scott syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Hemic and Lymphatic Diseases 1573
        hematopoietic system disease 1355
          blood coagulation disease 389
            inherited blood coagulation disease 99
              Scott syndrome 1
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