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ONTOLOGY REPORT - ANNOTATIONS


Term:IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
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Accession:DOID:9005701 term browser browse the term
Definition:An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia. (OMIM)
Synonyms:exact_synonym: ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA;   IMD11B
 primary_id: OMIM:617638
 alt_id: RDO:9005169
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IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CARD11 caspase recruitment domain family member 11 JBrowse link 7 2,906,075 3,043,867 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16489
    syndrome 5587
      primary immunodeficiency disease 962
        IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 1
Path 2
Term Annotations click to browse term
  disease 16489
    disease of anatomical entity 15414
      Immune & Inflammatory Diseases 2983
        immune system disease 2460
          primary immunodeficiency disease 962
            IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.