Itm2B-Related Cerebral Amyloid Angiopathy 1
Disease ID: disease_node_17492
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| Dbxref | GARD:8344, MIM:176500 |
|---|---|
| Subclassof | DOID_0050736, DOID_9246 |
| Data Source | DOID |
| Synonyms | Cerebral Amyloid Angiopathy, British Type, FBD, Familial British Dementia, Presenile Dementia with Spastic Ataxia |
| Doid Label | ITM2B-related cerebral amyloid angiopathy 1 |
| Doid Description | A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17492 |
| Doid Id | DOID_0070029 |
| Label | Itm2B-Related Cerebral Amyloid Angiopathy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Cerebral Amyloid Angiopathy, Familial(ID:disease_node_10973) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)