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Disease association ontology term - MONDO:0007387 - Cornelia de Lange syndrome 1

Term summary

ID
MONDO:0007387
Name
Cornelia de Lange syndrome 1
Ontology or CV name
Disease association
Definition
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.

Parents

Annotation

Disease association

MONDO:0007387 - Cornelia de Lange syndrome 1

References:

Genes: