ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant macrothrombocytopenia TUBB1-related
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Accession:DOID:0090102 term browser browse the term
Definition:A thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has_material_basis_in mutation in the TUBB1 gene on chromosome 20q13.3. (DO)
Synonyms:primary_id: MESH:C567747
 alt_id: OMIA:001001;   OMIM:613112;   RDO:0015731
 xref: ORDO:140957
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autosomal dominant macrothrombocytopenia TUBB1-related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb1 tubulin, beta 1 class VI JBrowse link 3 172,550,252 172,558,089 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      hematopoietic system disease 1365
        hemorrhagic disease 376
          blood platelet disease 193
            thrombocytopenia 129
              autosomal dominant macrothrombocytopenia TUBB1-related 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Hemic and Lymphatic Diseases 1580
        hematopoietic system disease 1365
          blood coagulation disease 390
            hemorrhagic disease 376
              blood platelet disease 193
                thrombocytopenia 129
                  autosomal dominant macrothrombocytopenia TUBB1-related 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.