Brain Small Vessel Disease 2
Disease ID: disease_node_20011
Connections displayed (default: 10).
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| Dbxref | MIM:614483 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112313 |
| Data Source | DOID |
| Synonyms | BSVD2, porencephaly 2 |
| Doid Label | brain small vessel disease 2 |
| Doid Description | A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20011 |
| Doid Id | DOID_0112314 |
| Label | Brain Small Vessel Disease 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Brain Small Vessel Disease(ID:disease_node_20012) (Disease)