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 Nlrp1a NLR family, pyrin domain containing 1A JBrowse link 11 71,091,197 71,144,973 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 11726
    sensory system disease 4013
      skin disease 2113
        Skin Abnormalities 339
          AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
Path 2
Term Annotations click to browse term
  disease 11726
    disease of anatomical entity 11187
      Skin and Connective Tissue Diseases 3390
        connective tissue disease 2193
          bone disease 1745
            bone inflammation disease 744
              arthritis 721
                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.