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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 ITM2B on chromosome 13q14.2.
https://www.ncbi.nlm.nih.gov/pubmed/10781099
Xrefs

OMIM:117300

Synonyms

Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis [EXACT]

Familial Danish Dementia [EXACT]

FDD [EXACT]

Heredopathia Ophthalmootoencephalica [EXACT]

HOOE [EXACT]

Parent Relationships

is_a cerebral amyloid angiopathy

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