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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.


show annotations for term's descendants           Sort by:
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: Immunodeficiency 27A OMIM
ClinVar		 PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 More... NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005 		JBrowse link
G Il12rb1 interleukin 12 receptor subunit beta 1 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769 		JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:14,424,215...14,494,226
Ensembl chr 1:14,451,228...14,493,602 		JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Map7 microtubule-associated protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:14,910,433...15,037,574
Ensembl chr 1:14,910,551...15,037,574 		JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:15,123,232...15,138,632
Ensembl chr 1:15,070,894...15,148,832 		JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:15,174,001...15,493,267
Ensembl chr 1:15,182,704...15,492,900 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Immunodeficiency 27A ClinVar PMID:28492532 NCBI chr 1:14,565,482...14,573,581
Ensembl chr 1:14,569,687...14,573,159 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        immunodeficiency 27A 11
Path 2
Term Annotations click to browse term
  disease 20988
    disease by infectious agent 2263
      Bacterial Infections and Mycoses 1130
        bacterial infectious disease 811
          Gram-Positive Bacterial Infections 391
            Actinomycetales Infections 316
              Mycobacterium Infections 315
                Nontuberculous Mycobacterium Infections 148
                  immunodeficiency 27A 11
paths to the root