ONTOLOGY REPORT - ANNOTATIONS


Term:platelet-type bleeding disorder 14
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Accession:DOID:0111047 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has material basis in mutation in the TBXAS1 gene on chromosome 7q34. (DO)
Synonyms:exact_synonym: BDPLT14;   thromboxane synthase deficiency
 primary_id: MESH:C562866;   RDO:0012401
 alt_id: OMIM:614158
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platelet-type bleeding disorder 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbxas1 thromboxane A synthase 1 JBrowse link 4 66,624,181 66,846,745 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      hematopoietic system disease 1375
        blood coagulation disease 392
          platelet-type bleeding disorder 14 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      Hemic and Lymphatic Diseases 1591
        hematopoietic system disease 1375
          blood coagulation disease 392
            hemorrhagic disease 378
              blood platelet disease 193
                platelet-type bleeding disorder 14 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.