Term Name: | brain small vessel disease 3 |
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Synonyms: | BSVD3 |
Definition: | 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. |
Ontology: | Human Disease [DOID:0112315] ( DOID:0112315 ) |