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ONTOLOGY REPORT - ANNOTATIONS


Term:platelet-type bleeding disorder 9
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Accession:DOID:0111045 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2.
Synonyms:exact_synonym: BDPLT9;   COLLAGEN PLATELET RECEPTOR DEFICIENCY;   GP IA Deficiency;   Glycoprotein IA Deficiency
 primary_id: MESH:C566000
 alt_id: OMIM:614200;   RDO:0014486
 xref: ORDO:98886
For additional species annotation, visit the Alliance of Genome Resources.


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platelet-type bleeding disorder 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2 integrin subunit alpha 2 JBrowse link 2 46,996,904 47,097,011 RGD:7240710
RGD:8554872
G Mocs2 molybdenum cofactor synthesis 2 JBrowse link 2 46,980,964 46,992,886 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Pathological Conditions, Signs and Symptoms 8038
      Pathologic Processes 5204
        Hemorrhage 237
          platelet-type bleeding disorder 9 2
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      Hemic and Lymphatic Diseases 1748
        hematopoietic system disease 1469
          blood coagulation disease 504
            hemorrhagic disease 492
              blood platelet disease 193
                thrombocytopenia 133
                  platelet-type bleeding disorder 9 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.