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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 ITM2B on chromosome 13q14.2.
Synonyms: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis, FDD, Familial Danish Dementia, HOOE, Heredopathia Ophthalmootoencephalica,
Echinobase Genes :
MIM:117300 - cerebral amyloid angiopathy, itm2b-related, 2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
cerebral amyloid angiopathy (is_a)