WormBase Tree Display for DO_term: DOID:0060485
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| DOID:0060485 | Name | Mowat-Wilson syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | Hirschsprung disease mental retardation syndrome | |||
| microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 235730 | |
| Attribute_of | Gene_by_orthology | WBGene00006970 |
