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 2 ID (Ontology) DOID:0112314 (Human Disease)
Definition A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34.
Also Known As "BSVD2" ; "porencephaly 2"
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 Genes
 brain small vessel disease 2       1
 for disease ribbon | brain small vessel disease 2       1
 model of | brain small vessel disease 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
brain disease                   |
 |__brain small vessel disease__|
                                brain small vessel disease 2  1 rec.
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Is a autosomal dominant disease
brain small vessel disease
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Synonyms
  • "BSVD2" EXACT OMO:0003012
    "porencephaly 2" EXACT
Secondary IDs
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MIM:614483