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Echinobase
Summary Literature (0)
DOID:0070030 - ITM2B-related cerebral amyloid angiopathy 2


Disease Ontology 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.

Synonyms: Familial Danish Dementia, FDD, Heredopathia Ophthalmootoencephalica, HOOE, Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis

Echinobase Genes :


MIM:
MIM:117300 - cerebral amyloid angiopathy, itm2b-related, 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), cerebral amyloid angiopathy (is_a)