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Metadata
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

MIM:618360

Synonyms

BSVD3 [EXACT]

Parent Relationships

is_a brain small vessel disease

is_a autosomal recessive disease

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