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Results 1 - 10 of 35 for Hirschsprung disease 2
  1. 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
  2. Hirschsprung disease 
    ... Hirschsprung disease, susceptibility to, 1 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 2 Genetic Testing Registry: Hirschsprung disease, susceptibility to, 3 ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  3. RET gene 
    ... very different from the inactivating mutations that cause Hirschsprung disease (described above); these two disorders rarely occur in the same individual. More ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  4. 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
  5. EDNRB gene 
    ... described below), EDNRB gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. People with a variant in one of the two copies of the EDNRB gene tend to develop ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  6. Waardenburg syndrome 
    ... signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for 2 to 5 percent of all cases of congenital ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
  7. EDN3 gene 
    ... of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. Genet Med. 2010 ... crest development. Nature. 1999 Dec 2;402(6761):496-501. doi: 10.1038/990040. ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  8. Congenital central hypoventilation syndrome 
    ... Schiavino A, Petreschi F, Novelli 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
  9. Talking about GI Disorders (International Foundation for Gastrointestinal Disorders)  
    Stomach Disorders/Children ... Stomach Disorders ... Abdominal Pain/Children ... Abdominal Pain ... International Foundation for Gastrointestinal Disorders ... The following are ...
    https://aboutkidsgi.org/.../talking-about-gi-disorders - External Health Links
  10. ZEB2 gene 
    ... why many people with this condition also have Hirschsprung disease, an intestinal disorder that causes severe constipation, ... PubMed ...
    https://medlineplus.gov/genetics/gene/zeb2 - Genetics
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