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Human Disease

brain small vessel disease 3

Term ID
DOID:0112315
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. https://pubmed.ncbi.nlm.nih.gov/30412317/
References
Ontology
Human Disease   ( DOID:0112315 )
Relationships
is a type of
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Genes Involved
Zebrafish Models