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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 deficiency
ClinVar Annotator: match by term: Interferon gamma receptor 1 deficiency
ClinVar PMID:10192386, PMID:11583830, PMID:12516030, PMID:15589309, PMID:18171304, PMID:18593809, PMID:20015550, PMID:28492532, PMID:28902581 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Interferon gamma receptor deficiency ClinVar PMID:16690980, PMID:16885196, PMID:28492532 NCBI chr11:31,694,339...31,712,611
Ensembl chr11:31,694,339...31,712,611
JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Interferon gamma receptor deficiency ClinVar NCBI chr11:31,719,441...31,752,276
Ensembl chr11:31,719,443...31,752,243
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease by infectious agent 1774
      viral infectious disease 1466
        Interferon Gamma, Receptor 1, Deficiency 3
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.