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ONTOLOGY REPORT - ANNOTATIONS


Term:platelet-type bleeding disorder 18
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Accession:DOID:0111051 term browser browse the term
Definition:An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material basis in homozygous mutation in the RASGRP2 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: BDPLT18;   bleeding disorder due to CalDAG-GEFI deficiency;   bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
 primary_id: OMIM:615888
 alt_id: RDO:9001378
 xref: ORDO:420566
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platelet-type bleeding disorder 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rasgrp2 RAS guanyl releasing protein 2 JBrowse link 1 221,771,238 221,788,765 RGD:8554872
RGD:7240710

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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 18 1
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
                platelet-type bleeding disorder 18 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.