Baraitser-Winter Syndrome 1
Disease ID: disease_node_20084
Connections displayed (default: 10).
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| Dbxref | MIM:243310 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060229 |
| Data Source | DOID |
| Doid Label | Baraitser-Winter syndrome 1 |
| Doid Description | A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20084 |
| Doid Id | DOID_0081112 |
| Label | Baraitser-Winter Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Baraitser-Winter Syndrome(ID:disease_node_20083) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)