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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:11554173
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 4231
      skin disease 2240
        Skin Abnormalities 340
          AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone inflammation disease 921
              arthritis 898
                AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1
paths to the root