loading...| Preferred Name |
Mowat-Wilson syndrome |
| Synonyms |
Hirschsprung Disease-Mental Retardation Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C536990 |
| altLabel |
Hirschsprung Disease-Mental Retardation Syndrome Microcephaly, Mental Retardation, and Distinct Facial Features, with Or without Hirschsprung Disease Hirschsprung disease mental retardation syndrome |
| cui |
C1856113 |
| HM |
D008607 D019066 D006627 D008831 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D019066 http://purl.bioontology.org/ontology/MESH/D006627 |
| MDA |
20100825 |
| MeSH Frequency |
88 |
| MMR |
20150818 |
| notation |
C536990 |
| prefLabel |
Mowat-Wilson syndrome |
| SC |
3 |
| Scope Statement |
A rare developmental disorder that occurs in 1 in 50,000-70,000 births. The most severe cases are characterized by intellectual disability, delayed motor development, EPILEPSY, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. De novo autosomal dominant mutations in the ZEB2 gene have been identified. OMIM: 235730 |
| TERMUI |
T806916 T741101 T741099 T842035 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |