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Term:platelet-type bleeding disorder 8
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Accession:DOID:0060692 term browser browse the term
Definition:An inherited blood coagulation disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (DO)
Synonyms:exact_synonym: ADP platelet receptor P2Y12 defect;   BDPLT8;   IMPAIRED ADP-INDUCED PLATELET AGGREGATION;   P2Y12 defect;   bleeding disorder due to P2RY12 defect;   bleeding disorder, P2RY12;   bleeding disorder, P2RY12-related
 primary_id: MESH:C565220
 alt_id: OMIA:001564;   OMIM:609821;   RDO:0009357;   RDO:0013923
 xref: ORDO:36355
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platelet-type bleeding disorder 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12l mediator complex subunit 12-like JBrowse link 2 149,213,134 149,316,569 RGD:8554872
G P2ry12 purinergic receptor P2Y12 JBrowse link 2 149,440,807 149,482,592 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15469
    Pathological Conditions, Signs and Symptoms 7988
      Pathologic Processes 5154
        Hemorrhage 235
          platelet-type bleeding disorder 8 2
Path 2
Term Annotations click to browse term
  disease 15469
    disease of anatomical entity 14820
      Hemic and Lymphatic Diseases 1744
        hematopoietic system disease 1466
          blood coagulation disease 501
            hemorrhagic disease 489
              blood platelet disease 192
                platelet-type bleeding disorder 8 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.