Kleefstra Syndrome 2
Disease ID: disease_node_17117
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:617768, ORDO:261652 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080597 |
| Data Source | DOID |
| Doid Label | Kleefstra syndrome 2 |
| Doid Description | A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17117 |
| Doid Id | DOID_0080598 |
| Label | Kleefstra Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Kleefstra Syndrome(ID:disease_node_17116) (Disease)