| 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://www.ncbi.nlm.nih.gov/pubmed/17958891, https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23466526 |
| Xrefs |
SNOMEDCT_US_2023_03_01:703535000 |
| 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 autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |