Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:platelet-type bleeding disorder 15
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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
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 15502
    Pathological Conditions, Signs and Symptoms 8034
      Pathologic Processes 5202
        Hemorrhage 237
          platelet-type bleeding disorder 15 2
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      Hemic and Lymphatic Diseases 1748
        hematopoietic system disease 1469
          blood coagulation disease 503
            hemorrhagic disease 491
              blood platelet disease 193
                thrombocytopenia 133
                  platelet-type bleeding disorder 15 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.