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Results 1 - 10 of 37 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. Gastrointestinal System and Down Syndrome (National Down Syndrome Society)  
    Down Syndrome/Related Issues ... Down Syndrome ... National Down Syndrome Society ... Gastrointestinal System and Down Syndrome
    https://ndss.org/resources/gastrointestinal-tract-syndrome - External Health Links
  5. 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
  6. 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
  7. 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
  8. Multiple Endocrine Neoplasia Syndromes (MEN) (Merck & Co., Inc.)  
    Endocrine Diseases/Specifics ... Endocrine Diseases ... Merck & Co., Inc. ... Multiple Endocrine Neoplasia Syndromes (MEN) - Learn about the causes, symptoms, diagnosis & treatment ...
    https://www.merckmanuals.com/...le-endocrine-neoplasia-syndromes-men - External Health Links
  9. 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
  10. 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
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