| Metadata | |
|---|---|
| ID | DOID:0112314 |
| PURL | http://purl.obolibrary.org/obo/DOID_0112314 Copy |
| Name | autosomal dominant brain small vessel disease 2A |
| 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. https://pubmed.ncbi.nlm.nih.gov/22209246/ |
| Xrefs | |
| Synonyms |
BSVD2 [EXACT] porencephaly 2 [EXACT] |
| Parent Relationships |