Terminology Service for NFDI4Health

Mowat-Wilson Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C74999


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). [ ]

Term info

Label

Mowat-Wilson Syndrome

Synonyms
  • Mowat-Wilson Syndrome
Legacy Concept Name

Mowat_Wilson_Syndrome

Preferred Name

Mowat-Wilson Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C1856113

code

C74999