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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, Immune Dysregulation, and Eosinophilia
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Accession:DOID:9006876 term browser browse the term
Synonyms:exact_synonym: AIIDE;   JAK1-RELATED CONDITION;   atopic dermatitis, enteritis, colitis, and eosinophilia
 primary_id: OMIM:618999

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Autoinflammation, Immune Dysregulation, and Eosinophilia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col9a3 collagen type IX alpha 3 chain ISO Oculoskeletal dysplasia 1 OMIA PMID:830631 PMID:1525714 PMID:3204050 PMID:20686772 PMID:22065099 More... NCBI chrNW_004955528:1,286,314...1,305,863 JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by term: JAK1-related condition OMIM
ClinVar		 PMID:20167706 PMID:24728327 PMID:25356970 PMID:25741868 PMID:28111307 More... NCBI chrNW_004955423:25,501,989...25,581,826
Ensembl chrNW_004955423:25,524,075...25,580,604 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      primary immunodeficiency disease 3474
        Autoinflammation, Immune Dysregulation, and Eosinophilia 2
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              Genetic Skin Diseases 1695
                Hereditary Autoinflammatory Diseases 313
                  Autoinflammation, Immune Dysregulation, and Eosinophilia 2
paths to the root