Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:nervous_system
gptkb:urogenital_system gastrointestinal system cardiac system |
| gptkbp:causedBy |
mutation in ZEB2 gene
|
| gptkbp:firstDescribed |
gptkb:Margaret_Wilson
1998 David R. Mowat |
| gptkbp:frequency |
rare
|
| gptkbp:hasOrphanetID |
2826
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mowat-Wilson syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
235730
|
| gptkbp:prognosis |
variable
|
| gptkbp:symptom |
gptkb:Hirschsprung_disease
epilepsy congenital heart defects intellectual disability microcephaly distinctive facial features urinary tract anomalies |
| gptkbp:treatment |
supportive care
symptomatic management |
| gptkbp:bfsParent |
gptkb:ZEB1
|
| gptkbp:bfsLayer |
7
|