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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 27A
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Accession:DOID:0111955 term browser browse the term
Definition:A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR1 on chromosome 6q23.3. (DO)
Synonyms:exact_synonym: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE;   IMD27A;   autosomal recessive MSMD due to partial IFNgammaR1 deficiency;   autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency;   autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency;   autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency;   immunodeficiency 27A, mycobacteriosis, autosomal recessive
 primary_id: OMIM:209950
 xref: ORDO:319569
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 27A 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: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:10192386 PMID:11583830 PMID:15589309 PMID:18171304 PMID:20015550 PMID:28492532 PMID:28902581 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      primary immunodeficiency disease 2375
        immunodeficiency 27A 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease by infectious agent 1805
      Bacterial Infections and Mycoses 694
        bacterial infectious disease 586
          Gram-Positive Bacterial Infections 202
            Actinomycetales Infections 149
              Mycobacterium Infections 148
                Nontuberculous Mycobacterium Infections 26
                  immunodeficiency 27A 1
paths to the root