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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:0090014
Term: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Definition: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9068311 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9843216 "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)11554173CTDCTD Direct Evidence: marker/mechanism 
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