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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.


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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:25741868, PMID:25894502, PMID:28492532, PMID:29137621 NCBI chr13:90,467,285...90,508,894
Ensembl chr13:90,467,265...90,508,932
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      primary immunodeficiency disease 2344
        autoimmune disease 1669
          Autoimmune Interstitial Lung, Joint, and Kidney Disease 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone inflammation disease 951
              arthritis 924
                Autoimmune Interstitial Lung, Joint, and Kidney Disease 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.