OBO ID: DOID:0070030
Term Name: ITM2B-related cerebral amyloid angiopathy 2 Search Ontology:
Synonyms:
  • Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
  • Familial Danish Dementia
  • FDD
  • Heredopathia Ophthalmootoencephalica
  • HOOE
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. https://www.ncbi.nlm.nih.gov/pubmed/10781099
References:
Ontology: Human Disease   ( DOID:0070030 )
OTHER ITM2B-related cerebral amyloid angiopathy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITM2B Dementia, familial Danish 117300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None