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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 10 57,692,474 57,747,608 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    sensory system disease 4697
      skin disease 2470
        Skin Abnormalities 505
          AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2790
          bone disease 2242
            bone inflammation disease 941
              arthritis 914
                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.