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 17 5,541,559 5,623,659 RGD:9068941
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 11096
    sensory system disease 3849
      skin disease 2031
        Skin Abnormalities 337
          AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
Path 2
Term Annotations click to browse term
  disease 11096
    disease of anatomical entity 10608
      Skin and Connective Tissue Diseases 3244
        connective tissue disease 2104
          bone disease 1688
            bone inflammation disease 713
              arthritis 691
                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.