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ONTOLOGY REPORT - ANNOTATIONS


Term:platelet-type bleeding disorder 15
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Accession:DOID:0111053 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. (DO)
Synonyms:exact_synonym: BDPLT15;   Bleeding disorder platelet type macrothrombocytopenia;   MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED
 primary_id: OMIM:615193
 alt_id: RDO:9000198
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platelet-type bleeding disorder 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn1 actinin, alpha 1 JBrowse link 6 103,376,557 103,470,497 RGD:7240710
RGD:8554872
G Fli1 Fli-1 proto-oncogene, ETS transcription factor JBrowse link 8 33,541,932 33,661,111 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Pathologic Processes 5078
        Hemorrhage 234
          platelet-type bleeding disorder 15 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          blood coagulation disease 468
            hemorrhagic disease 456
              blood platelet disease 196
                thrombocytopenia 133
                  platelet-type bleeding disorder 15 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.