Cornelia De Lange Syndrome 4
Disease ID: disease_node_19093
Connections displayed (default: 10).
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| Dbxref | MIM:614701 |
|---|---|
| Subclassof | DOID_0050736, DOID_11725 |
| Data Source | DOID |
| Synonyms | CDLS4, Cornelia De Lange syndrome 4 with or without midline brain defects |
| Doid Label | Cornelia de Lange syndrome 4 |
| Doid Description | A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19093 |
| Doid Id | DOID_0080508 |
| Label | Cornelia De Lange Syndrome 4 |
- 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)