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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:Interferon Gamma, Receptor 1, Deficiency
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Accession:DOID:9004697 term browser browse the term
Synonyms:exact_synonym: Interferon Gamma Receptor Deficiency
 primary_id: MESH:C535530;   RDO:0000693
 xref: NCI:C176806

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Interferon Gamma, Receptor 1, Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifngr1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: Interferon gamma receptor 1 deficiency | ClinVar Annotator: match by term: Interferon gamma receptor deficiency ClinVar PMID:8960473 PMID:9806040 PMID:10192386 PMID:11583830 PMID:12516030 More... NCBI chrNW_004955436:22,183,318...22,199,013 JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Interferon gamma receptor deficiency ClinVar PMID:16690980 PMID:16885196 PMID:25741868 PMID:28492532 NCBI chrNW_004955407:32,846,927...32,863,155
Ensembl chrNW_004955407:32,843,846...32,862,997 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Interferon gamma receptor deficiency ClinVar PMID:28492532 NCBI chrNW_004955407:32,876,380...32,916,036
Ensembl chrNW_004955407:32,874,905...32,916,036 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    disease by infectious agent 1959
      viral infectious disease 1503
        Interferon Gamma, Receptor 1, Deficiency 3
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