ONTOLOGY REPORT - ANNOTATIONS


Term:PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Immune & Inflammatory Diseases 3007
        Inflammation 1999
          PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Hemic and Lymphatic Diseases 1580
        hematopoietic system disease 1365
          blood coagulation disease 390
            hemorrhagic disease 376
              blood platelet disease 193
                PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.