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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:Autoimmune Interstitial Lung, Joint, and Kidney Disease
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Accession:DOID:9007760 term browser browse the term
Synonyms:exact_synonym: AILJK
 primary_id: OMIM:616414
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Autoimmune Interstitial Lung, Joint, and Kidney Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894502 PMID:27577878 More... NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        autoimmune disease 1851
          Autoimmune Interstitial Lung, Joint, and Kidney Disease 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            bone inflammation disease 970
              arthritis 938
                Autoimmune Interstitial Lung, Joint, and Kidney Disease 1
paths to the root