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GENE - TERM ANNOTATION REPORT

RGD ID: 731577
Species: Homo sapiens
RGD Object: Gene
Symbol: FBN1
Name: fibrillin 1
Acc ID: DOID:10487
Term: Hirschsprung's disease
Definition: A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hirschsprung%27s_disease "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm "DO" "DO", http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease "DO" "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease "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)
FBN1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1PMID:25741868 PMID:26559152 PMID:28492532
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