WormBase Tree Display for DO_term: DOID:0112314
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| DOID:0112314 | Name | brain small vessel disease 2 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | BSVD2 | |||
| porencephaly 2 | |||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0112313 | |||||
| DB_info | Database | OMIM | disease | 614483 | |
| Attribute_of | Gene_by_orthology | WBGene00000693 | |||
| WBGene00001066 |
