Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
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:10192386 PMID:11583830 PMID:12712974 PMID:15589309 PMID:16867158 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 18256
    syndrome 9802
      primary immunodeficiency disease 3867
        immunodeficiency 27B 1
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          monogenic disease 8946
            autosomal genetic disease 7992
              autosomal dominant disease 5476
                immunodeficiency 27B 1
paths to the root