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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 27B
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Accession:DOID:0111956 term browser browse the term
Definition:A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3. (DO)
Synonyms:exact_synonym: IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT;   IMD27B;   autosomal dominant MSMD due to partial IFNgammaR1 deficiency;   autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency;   autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;   autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency;   immunodeficiency 27B, mycobacteriosis, autosomal dominant
 primary_id: OMIM:615978
 xref: ORDO:319581
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 27B 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: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency OMIM
ClinVar		 PMID:8960473 PMID:9806040 PMID:10192386 PMID:11583830 PMID:12712974 More... NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      primary immunodeficiency disease 4504
        immunodeficiency 27B 1
Path 2
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18059
        genetic disease 17979
          monogenic disease 10257
            autosomal genetic disease 9392
              autosomal dominant disease 6398
                immunodeficiency 27B 1
paths to the root