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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, Immunde Dysregulation, and Eosinophilia
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Accession:DOID:9006876 term browser browse the term
Synonyms:exact_synonym: AIIDE;   atopic dermatitis, enteritis, colitis, and eosinophilia
 primary_id: OMIM:618999
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Autoinflammation, Immunde 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 PMID:31415586 PMID:31595625 NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA OMIM
ClinVar
PMID:20167706 PMID:25356970 PMID:28111307 PMID:32750333 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      primary immunodeficiency disease 2693
        Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          skin disease 2943
            Genetic Skin Diseases 1041
              Hereditary Autoinflammatory Diseases 116
                Autoinflammation, Immunde Dysregulation, and Eosinophilia 2
paths to the root