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Term:ITM2B-related cerebral amyloid angiopathy 2
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Accession:DOID:0070030 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FDD;   HOOE;   cerebellar ataxia, cataract, deafness, and dementia or psychosis;   familial Danish dementia;   heredopathia ophthalmootoencephalica
 primary_id: MESH:C538209
 alt_id: OMIM:117300;   RDO:0004153
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ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 0
    Diseases of the Aged 1226
      dementia 664
        ITM2B-related cerebral amyloid angiopathy 2 1
Path 2
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  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            movement disease 1068
              Dyskinesias 778
                Ataxia 333
                  hereditary ataxia 219
                    cerebellar ataxia 186
                      ITM2B-related cerebral amyloid angiopathy 2 1
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