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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant macrothrombocytopenia TUBB1-related
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Accession:DOID:0090102 term browser browse the term
Definition:A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      hematopoietic system disease 1594
        hemorrhagic disease 590
          blood platelet disease 271
            thrombocytopenia 209
              autosomal dominant macrothrombocytopenia TUBB1-related 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Hemic and Lymphatic Diseases 1995
        hematopoietic system disease 1594
          blood coagulation disease 603
            hemorrhagic disease 590
              blood platelet disease 271
                thrombocytopenia 209
                  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.