About   Help   FAQ
Disease Ontology Browser
brain small vessel disease 2 (DOID:0112314)
Alliance: disease page
Synonyms: 'BSVD2'; 'porencephaly 2'
Alt IDs: OMIM:614483
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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.17
The Jackson Laboratory