Brain Small Vessel Disease 3
Disease ID: disease_node_20013
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| Dbxref | MIM:618360 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112313 |
| Data Source | DOID |
| Synonyms | BSVD3 |
| Doid Label | brain small vessel disease 3 |
| Doid Description | A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20013 |
| Doid Id | DOID_0112315 |
| Label | Brain Small Vessel Disease 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Brain Small Vessel Disease(ID:disease_node_20012) (Disease)