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

Xenbase Genes : itm2b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007297 - ADan amyloidosis


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)