Metadata | |
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ID | DOID:0112315 |
Name | brain small vessel disease 3 |
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. https://pubmed.ncbi.nlm.nih.gov/30412317/ |
Xrefs | |
Synonyms |
BSVD3 [EXACT] |
Parent Relationships |