Metadata | |
---|---|
ID | DOID:0070030 |
Name | ITM2B-related cerebral amyloid angiopathy 2 |
Definition | A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. https://www.ncbi.nlm.nih.gov/pubmed/10781099 |
Xrefs | |
Synonyms |
Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis [EXACT] Familial Danish Dementia [EXACT] FDD [EXACT] Heredopathia Ophthalmootoencephalica [EXACT] HOOE [EXACT] |
Parent Relationships |