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General Information
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| Term |
ITM2B-related cerebral amyloid angiopathy 1 |
ID (Ontology) |
DOID:0070029 (Human Disease) |
| Definition |
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. |
| Also Known As |
"Cerebral Amyloid Angiopathy, British Type" ; "Familial British Dementia" ; "FBD" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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ITM2B-related cerebral amyloid angiopathy 1 | 2 | 1 | for disease ribbon | ITM2B-related cerebral amyloid angiopathy 1 | 1 | -- | model of | ITM2B-related cerebral amyloid angiopathy 1 | 1 | -- |
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Relationships