Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| calbc:hasCorrelation | |
| skos:definition |
NCI: 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).
|
| skos:inScheme | |
| skos-xl:prefLabel | |
| skos-xl:altLabel |