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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 28
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Accession:DOID:0111995 term browser browse the term
Definition:A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. (DO)
Synonyms:exact_synonym: IFNGR2 deficiency;   IMD28;   MSMD due to complete IFNgammaR2 deficiency;   MSMD due to complete interferon gamma receptor 2 deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency;   immunodeficiency 28, mycobacteriosis;   immunodeficiency 28, mycobacteriosis, autosomal recessive
 primary_id: OMIM:614889
 xref: ORDO:319547


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immunodeficiency 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 28
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15924140 PMID:16690980 PMID:16885196 PMID:17576681 More... NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:29106381 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      primary immunodeficiency disease 4124
        immunodeficiency 28 4
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          monogenic disease 10212
            autosomal genetic disease 9354
              autosomal recessive disease 6380
                immunodeficiency 28 4
paths to the root