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ONTOLOGY REPORT - ANNOTATIONS


Term:Bernard-Soulier syndrome type A2
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Accession:DOID:0111059 term browser browse the term
Definition:A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. (DO)
Synonyms:exact_synonym: BSSA2;   Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
 primary_id: OMIM:153670
 alt_id: RDO:0008049
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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

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Path 1
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  disease 15602
    syndrome 5231
      Bernard-Soulier syndrome 4
        Bernard-Soulier syndrome type A2 1
Path 2
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  disease 15602
    disease of anatomical entity 14933
      Hemic and Lymphatic Diseases 1744
        hematopoietic system disease 1473
          blood coagulation disease 503
            hemorrhagic disease 491
              blood platelet disease 195
                Bernard-Soulier syndrome 4
                  Bernard-Soulier syndrome type A2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.