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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:0060010
Term: Omenn syndrome
Definition: A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Omenn_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/11213808 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/14328107 "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)8554872ClinVarClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophiliaPMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532
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