FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Mowat-Wilson syndrome ID (Ontology) DOID:0060485 (Human Disease)
Definition A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22.
Also Known As "Hirschsprung disease mental retardation syndrome" ; "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease"
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 Genes
 Mowat-Wilson syndrome       1
 for disease ribbon | Mowat-Wilson syndrome       1
 model of | Mowat-Wilson syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Mowat-Wilson syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Hirschsprung disease mental retardation syndrome" EXACT
    "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT
Secondary IDs
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GARD:9673
MESH:C536990
MIM:235730
NCI:C74999
ORDO:2152
SNOMEDCT_US_2023_03_01:703535000
UMLS_CUI:C1856113