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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;   RDO:9005193
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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 14759
    disease of anatomical entity 13978
      Immune & Inflammatory Diseases 2999
        Inflammation 1997
          PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Hemic and Lymphatic Diseases 1573
        hematopoietic system disease 1355
          blood coagulation disease 389
            hemorrhagic disease 375
              blood platelet disease 192
                PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE 1
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