Search Ontology:
Human Disease
brain small vessel disease 2
- Term ID
- DOID:0112314
- Synonyms
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- BSVD2
- porencephaly 2
- 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. https://pubmed.ncbi.nlm.nih.gov/22209246/
- References
- Ontology
- Human Disease ( DOID:0112314 )
- is a type of
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Genes Involved
Zebrafish Models