ONTOLOGY REPORT - ANNOTATIONS


Term:AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
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Accession:DOID:9007910 term browser browse the term
Definition:A disease characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level. (OMIM)
Synonyms:exact_synonym: AIADK
 primary_id: OMIM:617388;   RDO:9001687
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AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp1 NLR family pyrin domain containing 1 JBrowse link NW_004936677 2,248,153 2,290,802 RGD:9068941
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 10652
    sensory system disease 3762
      skin disease 1969
        Skin Abnormalities 329
          AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
Path 2
Term Annotations click to browse term
  disease 10652
    disease of anatomical entity 10186
      Skin and Connective Tissue Diseases 3163
        connective tissue disease 2059
          bone disease 1660
            bone inflammation disease 695
              arthritis 672
                AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.