Search Ontology:
Human Disease
brain small vessel disease 3
- Term ID
- DOID:0112315
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/30412317/
- References
- Ontology
- Human Disease ( DOID:0112315 )
- is a type of
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Genes Involved
Zebrafish Models