autosomal dominant brain small vessel disease 2A Disease Ontology Browser

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Disease Ontology Browser

autosomal dominant brain small vessel disease 2A (DOID:0112314)
Alliance: disease page
Synonyms: BSVD2; porencephaly 2
Alt IDs: OMIM:614483
Definition: A brain small vessel disease characterized by variable neurologic impairment resulting from disturbed vascular supply that leads to cerebral degeneration 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)
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