Cornelia de Lange syndrome (via NIPBL ortholog)
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:NIPBL
|
| gptkbp:hasOrthologousGene |
NIPBL ortholog
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cornelia de Lange syndrome (via NIPBL ortholog)
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:NIPBL
|
| gptkbp:OMIM |
122470
|
| gptkbp:symptom |
intellectual disability
distinctive facial features growth retardation limb abnormalities |
| gptkbp:bfsParent |
gptkb:SCC2
|
| gptkbp:bfsLayer |
7
|