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Disease Ontology Browser
brain small vessel disease 3 (DOID:0112315)
Alliance: disease page
Synonyms: 'BSVD3'
Alt IDs: OMIM:618360
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 COLGALT1 on chromosome 19p13.11.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory