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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:Immunodeficiency 106
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Accession:DOID:9006471 term browser browse the term
Definition:An autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22.
Synonyms:exact_synonym: IFNAR1 deficiency;   IMD106;   immunodeficiency 106, susceptibility to viral infections
 primary_id: MIM:619935


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Immunodeficiency 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnar1 interferon alpha and beta receptor subunit 1 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency 106, susceptibility to viral infections OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29106381 PMID:31270247 PMID:32960813 More... NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      primary immunodeficiency disease 4299
        Immunodeficiency 106 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      Immune & Inflammatory Diseases 5729
        immune system disease 4919
          primary immunodeficiency disease 4299
            Immunodeficiency 106 1
paths to the root