Brain Small Vessel Disease 1
Disease ID: disease_node_20014
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| Dbxref | MIM:175780, ORDO:36383 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112313 |
| Data Source | DOID |
| Synonyms | BSVD1, COL4A1-related brain small vessel disease with hemorrhage, COL4A1-related familial vascular leukoencephalopathy, COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome, autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy, brain small vessel disease with Axenfeld-Riegar anomaly, brain small vessel disease with hemorrhage, brain small vessel disease with or without ocular anomalies, infantile hemiparesis, leukoencephalopathy with Axenfeld-Riegar anomaly |
| Doid Label | brain small vessel disease 1 |
| Doid Description | A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20014 |
| Doid Id | DOID_0090125 |
| Label | Brain Small Vessel Disease 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Brain Small Vessel Disease(ID:disease_node_20012) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)