About: Mowat-Wilson Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Mowat-Wilson Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Mowat-Wilson Syndrome
UMLS_CUI
  • C1856113
Legacy_Concept_Name
  • Mowat_Wilson_Syndrome
FULL_SYN
  • Mowat-Wilson SyndromePTNCI
DEFINITION
  • A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage).NCI
code
  • C74999
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