Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/235730
http://purl.bioontology.org/ontology/OMIM/235730
|
|---|---|
| Preferred Name | MOWAT-WILSON SYNDROME |
| Synonyms |
HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME
MOWS
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME
MOWS
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
|
|---|---|
| prefLabel | MOWAT-WILSON SYNDROME
|
| Gene Symbol |
SIP1
ZFHX1B
SMADIP1
ZEB2
|
| Scope Statement | Milder phenotype associated with aberrant function of a single domain of the ZEB2 protein rather than complete haploinsufficiency of ZEB2 [MISCELLANEOUS]
Prevalence of 1 in 50,000-70,000 live births [MISCELLANEOUS]
Caused by mutation in the zinc finger E box-binding homeobox 2 gene (ZEB2, 605802.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 2q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 235730
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1856113
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |