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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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

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Autoinflammation with Arthritis and Dyskeratosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1 NLR family pyrin domain containing 1 ISO ClinVar Annotator: match by term: Autoinflammation with arthritis and dyskeratosis ClinVar
OMIM		 PMID:16918630 PMID:17377159 PMID:24033266 PMID:25741868 PMID:27965258 More... NCBI chrNW_004936677:2,248,153...2,290,802
Ensembl chrNW_004936677:2,248,903...2,289,151 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      skin disease 3576
        Skin Abnormalities 1226
          Autoinflammation with Arthritis and Dyskeratosis 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Skin and Connective Tissue Diseases 6452
        connective tissue disease 5008
          bone disease 3672
            bone inflammation disease 1238
              arthropathy 1218
                arthritis 810
                  Autoinflammation with Arthritis and Dyskeratosis 1
paths to the root