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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:X-linked severe combined immunodeficiency
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Accession:DOID:0060013 term browser browse the term
Definition:A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)
Synonyms:exact_synonym: IMD4;   Immunodeficiency 4;   SCID-X1;   SCIDX;   SCIDX1;   X-SCID;   X-linked SCID;   X-linked severe combined immunodeficiency disease;   X-linked severe combined immunodeficiency, T-cell negative, B-cell positive, NK-cell negative;   XSCID;   gamma chain deficiency;   thymic epithelial hypoplasia
 primary_id: OMIM:300400
 xref: EFO:0005555;   EFO:1001451;   GARD:5618;   NCI:C4682

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X-linked severe combined immunodeficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency OMIM
ClinVar		 PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 More... NCBI chrNW_004955475:10,676,592...10,680,565
Ensembl chrNW_004955475:10,676,870...10,680,517 		JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,854,148...10,858,802
Ensembl chrNW_004955475:10,854,270...10,858,636 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,712,170...10,735,857
Ensembl chrNW_004955475:10,712,170...10,735,857 		JBrowse link
G Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,833,514...10,853,460
Ensembl chrNW_004955475:10,833,189...10,853,519 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,930,175...11,006,876
Ensembl chrNW_004955475:10,930,192...11,005,724 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar PMID:28492532 NCBI chrNW_004955475:10,801,637...10,818,123
Ensembl chrNW_004955475:10,801,255...10,818,375 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        Infant, Newborn, Diseases 1054
          severe combined immunodeficiency 435
            X-linked severe combined immunodeficiency 8
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            X-linked monogenic disease 1196
              X-linked recessive disease 524
                X-linked severe combined immunodeficiency 8
paths to the root