Cornelia De Lange Syndrome 1
Disease ID: disease_node_19096
Connections displayed (default: 10).
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| Dbxref | MIM:122470 |
|---|---|
| Subclassof | DOID_0050736, DOID_11725 |
| Data Source | DOID |
| Doid Label | Cornelia de Lange syndrome 1 |
| Doid Description | A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19096 |
| Doid Id | DOID_0080505 |
| Label | Cornelia De Lange Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from De Lange Syndrome(ID:disease_node_2376) (Disease)