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DOID:0070029 - ITM2B-related cerebral amyloid angiopathy 1
Disease Ontology Definition:A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.
Synonyms: Cerebral Amyloid Angiopathy, British Type, FBD, Familial British Dementia, Presenile Dementia with Spastic Ataxia,
Echinobase Genes :
MIM:176500 - cerebral amyloid angiopathy, itm2b-related, 1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee