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ONTOLOGY REPORT - ANNOTATIONS


Term:Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease
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Accession:DOID:9008405 term browser browse the term
Definition:An autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies. (OMIM)
Synonyms:exact_synonym: PLTEID
 primary_id: OMIM:617718
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Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arpc1b actin related protein 2/3 complex, subunit 1B JBrowse link 12 11,252,300 11,265,849 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      Immune & Inflammatory Diseases 3134
        Inflammation 2040
          Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 1
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
                Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.