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GENE - TERM ANNOTATION REPORT

RGD ID: 620713
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fgfr1
Name: Fibroblast growth factor receptor 1
Acc ID: DOID:1921
Term: Klinefelter syndrome
Definition: A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/klinefelter-syndrome "DO" "DO", https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome "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)
Fgfr1 ISOFGFR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadismPMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149
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