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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 heterozygous mutation in the ITM2B gene on chromosome 13q14.
Synonyms: Cerebral Amyloid Angiopathy, British Type, FBD, Familial British Dementia, Presenile Dementia with Spastic Ataxia,
Xenbase Genes : itm2b
MONDO:0008306 - ABri amyloidosis |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee