Cornelia De Lange Syndrome 2
Disease ID: disease_node_19095
Connections displayed (default: 10).
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| Dbxref | MIM:300590 |
|---|---|
| Subclassof | DOID_0080009, DOID_11725 |
| Data Source | DOID |
| Doid Label | Cornelia de Lange syndrome 2 |
| Doid Description | A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_19095 |
| Doid Id | DOID_0080506 |
| Label | Cornelia De Lange Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from De Lange Syndrome(ID:disease_node_2376) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease)