FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term brain small vessel disease 3 ID (Ontology) DOID:0112315 (Human Disease)
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.
Also Known As "BSVD3"
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 Genes
 brain small vessel disease 3       1
 for disease ribbon | brain small vessel disease 3       1
 model of | brain small vessel disease 3       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
brain disease                    |
 |__brain small vessel disease___|
                                 brain small vessel disease 3  1 rec.
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Is a autosomal recessive disease
brain small vessel disease
Part of
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Synonyms
  • "BSVD3" EXACT OMO:0003012
Secondary IDs
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MIM:618360