ONTOLOGY REPORT - ANNOTATIONS


Term:Bernard-Soulier syndrome
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Accession:DOID:2217 term browser browse the term
Definition:A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
Synonyms:exact_synonym: BDPLT1;   BSS;   Bernard-Soulier thrombopathy;   Deficiency of Platelet Glycoprotein 1b;   Giant Platelet Syndrome;   Glycoprotein Ib, Platelet, Deficiency Of;   Platelet Glycoprotein Ib Deficiency;   Von Willebrand factor receptor deficiency;   bleeding disorder, platelet-type, 1;   giant platelet syndromes;   hemorrhagic dystrophic thrombocytopenia
 narrow_synonym: BERNARD-SOULIER SYNDROME, TYPE B;   BERNARD-SOULIER SYNDROME, TYPE C;   VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY BERNARD-SOULIER SYNDROME, TYPE A1
 primary_id: MESH:D001606
 alt_id: OMIM:231200;   RDO:0004987
 xref: ORDO:274
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Bernard-Soulier syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:1580444
RGD:8554872
RGD:10450843
RGD:10450834
RGD:10450833
RGD:10450819
RGD:10450809
RGD:10450798
RGD:10450796
RGD:7240710
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:7240710
RGD:13464128
RGD:11040530
RGD:11040529
RGD:11040528
G Gp9 glycoprotein IX (platelet) JBrowse link 4 119,680,671 119,682,006 RGD:7240710
RGD:8554872
RGD:13464128
RGD:11040531
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:1580643
Bernard-Soulier syndrome type A2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:7240710
RGD:8554872
Bernard-Soulier Syndrome, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:10450832
RGD:10450842
Bernard-Soulier Syndrome, Type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:8554872
Bernard-Soulier Syndrome, Type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:8554872
Bernard-Soulier Syndrome, Type C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gp9 glycoprotein IX (platelet) JBrowse link 4 119,680,671 119,682,006 RGD:1599275
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Bernard-Soulier syndrome 4
        Bernard-Soulier Syndrome, Autosomal Dominant 1
        Bernard-Soulier Syndrome, Type A 1
        Bernard-Soulier Syndrome, Type B 1
        Bernard-Soulier Syndrome, Type C 1
        Bernard-Soulier syndrome type A2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          blood coagulation disease 390
            hemorrhagic disease 376
              blood platelet disease 193
                Bernard-Soulier syndrome 4
                  Bernard-Soulier Syndrome, Autosomal Dominant 1
                  Bernard-Soulier Syndrome, Type A 1
                  Bernard-Soulier Syndrome, Type B 1
                  Bernard-Soulier Syndrome, Type C 1
                  Bernard-Soulier syndrome type A2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.