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GENE - TERM ANNOTATION REPORT

RGD ID: 61957
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Isl1
Name: ISL LIM homeobox 1
Acc ID: DOID:0080173
Term: bladder exstrophy-epispadias-cloacal exstrophy complex
Definition: A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22055685 "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)
Isl1 ISOISL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex 
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