Disease association ontology term - MONDO:0010370 - Cornelia de Lange syndrome 2
Term summary
- ID
- MONDO:0010370
- Name
- Cornelia de Lange syndrome 2
- Ontology or CV name
- Disease association
- Definition
- An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.
