Sotos Syndrome 1
Disease ID: disease_node_15601
Connections displayed (default: 10).
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| Dbxref | MIM:117550 |
|---|---|
| Subclassof | DOID_0050736, DOID_14748 |
| Data Source | DOID |
| Synonyms | SOTOS1 |
| Doid Label | Sotos syndrome 1 |
| Doid Description | A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15601 |
| Doid Id | DOID_0112103 |
| Label | Sotos Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Sotos Syndrome(ID:disease_node_12531) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)