Mowat-Wilson Syndrome

Preferred Label : Mowat-Wilson Syndrome;

NCIt synonyms : Mowat Wilson Syndrome;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage).;

Details

Origin ID

C74999;

UMLS CUI

C1856113;

Currated CISMeF NLP mapping
- Mowat-Wilson syndrome [DO Concept]
- Mowat-Wilson syndrome [ICD-11 More detail]
- Mowat-Wilson syndrome [MeSH concept]
- Mowat-Wilson syndrome [MeSH Supplementary Concept]
- Mowat-Wilson syndrome [ORDO Disease]
- Mowat-Wilson syndrome (disorder) [SNOMED CT concept]
- Mowat-wilson syndrome [OMIM Phenotype]
DO Cross reference
- Mowat-Wilson syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mowat-Wilson syndrome [ORDO Disease]
- Mowat-Wilson syndrome [MeSH Supplementary Concept]
- Mowat-Wilson syndrome [MeSH concept]
- Mowat-Wilson syndrome [DO Concept]
- Mowat-Wilson syndrome (disorder) [SNOMED CT concept]
- Mowat-wilson syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ZEB2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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