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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
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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
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 15590
    Pathological Conditions, Signs and Symptoms 8013
      Pathologic Processes 5074
        Hemorrhage 234
          platelet-type bleeding disorder 9 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Hemic and Lymphatic Diseases 1704
        hematopoietic system disease 1426
          blood coagulation disease 444
            hemorrhagic disease 430
              blood platelet disease 191
                thrombocytopenia 129
                  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.