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GENE - TERM ANNOTATION REPORT

RGD ID: 2536
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ednrb
Name: endothelin receptor type B
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)
Ednrb IAGP 1342447RGD  
Ednrb IAGP 6480215RGD  
Ednrb IAGP 6480217RGD  
EdnrbtreatmentIMP 628516RGD  
Ednrb ISOEDNRB (Homo sapiens)1601008RGDDNA:point mutation:exon:W276C 
Ednrb ISOEDNRB (Homo sapiens)7240710OMIM  
Ednrb ISOEDNRB (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:8896568
Ednrb ISOEDNRB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aganglionic megacolon | ClinVar Annotator: match by term: Hirschsprung Disease, Recessive | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 2PMID:10090908 PMID:10458491 PMID:10664228 PMID:10874640 PMID:12628594 PMID:14633923 PMID:16145050 PMID:16518596 PMID:16944573 PMID:16954478 PMID:17011274 PMID:17223014 PMID:17618893 PMID:18162831 PMID:18633623 PMID:18758497 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27639823 PMID:28492532 PMID:29407415 PMID:30218169 PMID:30303587 PMID:32747562 PMID:8001158 PMID:8852658 PMID:8852659 PMID:8852660 PMID:9359036 PMID:9760196
Ednrb ISSEdnrb (Mus musculus)13592920MouseDOOMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 
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