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Metadata
ID DOID:0060485
Name Mowat-Wilson syndrome
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.
https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/17958891, https://www.ncbi.nlm.nih.gov/pubmed/23466526
Xrefs

GARD:9673

MESH:C536990

NCI:C74999

OMIM:235730

ORDO:2152

SNOMEDCT_US_2023_03_01:703535000

UMLS_CUI:C1856113

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Hirschsprung disease mental retardation syndrome [EXACT]

microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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