Itm2B-Related Cerebral Amyloid Angiopathy 2
Disease ID: disease_node_17491
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| Dbxref | MIM:117300 |
|---|---|
| Subclassof | DOID_9246, DOID_0050736 |
| Data Source | DOID |
| Synonyms | Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis, FDD, Familial Danish Dementia, HOOE, Heredopathia Ophthalmootoencephalica |
| Doid Label | ITM2B-related cerebral amyloid angiopathy 2 |
| Doid Description | A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal domit mutation of the ITM2B gene on chromosome 13q14.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17491 |
| Doid Id | DOID_0070030 |
| Label | Itm2B-Related Cerebral Amyloid Angiopathy 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Cerebral Amyloid Angiopathy, Familial(ID:disease_node_10973) (Disease)