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 1 ID (Ontology) DOID:0090125 (Human Disease)
Definition A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.
Also Known As "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" ; "brain small vessel disease with Axenfeld-Riegar anomaly" ; "brain small vessel disease with hemorrhage" (for all, see Synonyms field below)
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 brain small vessel disease 1       2
 for disease ribbon | brain small vessel disease 1       2
 model of | brain small vessel disease 1       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
brain disease                   |
 |__brain small vessel disease__|
                                brain small vessel disease 1  2 rec.
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Is a autosomal dominant disease
brain small vessel disease
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Synonyms
  • "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT
    "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT
    "brain small vessel disease with hemorrhage" EXACT
    "brain small vessel disease with or without ocular anomalies" EXACT
    "BSVD1" EXACT OMO:0003012
    "COL4A1-related brain small vessel disease with hemorrhage" EXACT
    "COL4A1-related familial vascular leukoencephalopathy" EXACT
    "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT
    "infantile hemiparesis" EXACT
    "leukoencephalopathy with Axenfeld-Riegar anomaly" EXACT
Secondary IDs
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MIM:175780
ORDO:36383