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Results 1 - 10 of 13 for Hirschsprung disease 7
  1. Hirschsprung disease 
    ... Anderson RB. Genetic interactions and modifier genes in Hirschsprung's disease. World J Gastroenterol. 2011 Dec 7;17(45):4937-44. doi: 10.3748/wjg.v17.i45.4937. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  2. EDNRB gene 
    ... Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet. 1996 Mar;5(3):355-7. doi: 10.1093/hmg/5.3.355. Citation ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  3. EDN3 gene 
    ... the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediatr Res. 1999 May;45(5 Pt 1):714-7. doi: 10.1203/00006450-199905010-00018. Citation on ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  4. Congenital central hypoventilation syndrome 
    ... Am J Med Genet A. 2018 Jul;176(7):1627-1631. doi: 10.1002/ajmg.a.38720. Epub 2018 ... in patients with Hirschsprung disease. Ital J Pediatr. 2019 Apr 18;45(1): ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  5. RET gene 
    ... Trends Mol Med. 2004 Jul;10(7):351-7. doi: 10.1016/j.molmed.2004.06.002. Citation ... factor for Hirschsprung's disease: a meta-analysis. Pediatr Surg Int. 2015 Aug; ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  6. Mowat-Wilson syndrome 
    ... intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.Children with Mowat-Wilson ... syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  7. Bardet-Biedl syndrome 
    ... burden of private mutations in an extensively heterogeneous disease. Hum Genet. ... cilium. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  8. L1CAM gene 
    ... buildup of fluid in the brain (hydrocephalus) and Hirschsprung disease. Hirschsprung disease is an intestinal disorder characterized by the absence ... the brain and intestine, leading to hydrocephalus and Hirschsprung disease. antigen identified by monoclonal antibody R1 CAML1 CD171 ...
    https://medlineplus.gov/genetics/gene/l1cam - Genetics
  9. PHOX2B gene 
    ... in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement ... with PHOX2B gene mutations have both neuroblastoma and Hirschsprung disease. PHOX2B gene variations affect the autonomic nervous system ...
    https://medlineplus.gov/genetics/gene/phox2b - Genetics
  10. Mabry syndrome 
    ... the anus (anal stenosis or anal atresia) or Hirschsprung disease, a disorder that causes severe constipation or blockage ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
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