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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Diseases of the Aged 1171
      dementia 618
        ITM2B-related cerebral amyloid angiopathy 2 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            movement disease 1001
              Dyskinesias 711
                Ataxia 300
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      ITM2B-related cerebral amyloid angiopathy 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.