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Results 1 - 10 of 14 for Hirschsprung disease 3
  1. Hirschsprung disease 
    ... Hirschsprung disease, susceptibility to, 2 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 3 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 4 ...
    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. ... JP, Jouk PS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  3. EDN3 gene 
    ... JP, Jouk PS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB ... heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediatr Res. 1999 May;45(5 Pt 1): ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  4. Congenital central hypoventilation syndrome 
    ... A, Cutrera R. Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease. Ital J Pediatr. 2019 Apr 18;45(1): ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  5. Mowat-Wilson syndrome 
    ... Rauch A. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet. 2002 Mar 15;108(3):177-81. Citation on PubMed Zweier C, Thiel ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  6. Emanuel syndrome 
    ... the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's ... 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11; ...
    https://medlineplus.gov/genetics/condition/emanuel-syndrome - Genetics
  7. RET gene 
    ... gene are the most common genetic cause of Hirschsprung disease, a disorder that causes severe constipation or blockage ... absence leads to the intestinal problems characteristic of Hirschsprung disease. More About This Health Condition More than 25 ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  8. Bardet-Biedl syndrome 
    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  9. SOX10 gene 
    ... II and type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). Both types of Waardenburg ... type IV also have an intestinal disorder called Hirschsprung disease that causes severe constipation or intestinal blockage. Most ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  10. 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
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