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GENE - TERM ANNOTATION REPORT

RGD ID: 1309776
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Il7r
Name: interleukin 7 receptor
Acc ID: DOID:627
Term: severe combined immunodeficiency
Definition: A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. (DO)
Definition Source(s): http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency "DO" "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency "DO" "DO", http://www.scid.net/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Il7r ISOIL7R (Homo sapiens)1600151RGDautosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971 
Il7r ISOIL7R (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe combined immunodeficiency diseasePMID:15661025 PMID:16492442 PMID:17201233 PMID:17827065 PMID:18403192 PMID:18641513 PMID:21664875 PMID:23810098 PMID:24728327 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:27833609 PMID:28436970 PMID:28492532 PMID:30778343 PMID:32576985 PMID:32765500 PMID:33084842
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