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ONTOLOGY REPORT - ANNOTATIONS


Term:ITM2B-related cerebral amyloid angiopathy 1
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Accession:DOID:0070029 term browser browse the term
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 ITM2B on chromosome 13q14.2. (DO)
Synonyms:exact_synonym: FBD;   cerebral amyloid angiopathy, British type;   familial British dementia;   presenile dementia with spastic ataxia
 primary_id: MESH:C538208
 alt_id: DOID:9000539;   OMIM:176500;   RDO:0004151
 xref: GARD:8344
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ITM2B-related cerebral amyloid angiopathy 1 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:1358403
RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        Proteostasis Deficiencies 259
          amyloidosis 42
            cerebral amyloid angiopathy 11
              ITM2B-related cerebral amyloid angiopathy 1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            cerebrovascular disease 803
              intracranial arterial disease 234
                cerebral arterial disease 190
                  cerebral amyloid angiopathy 11
                    CST3-related cerebral amyloid angiopathy 3
                      ITM2B-related cerebral amyloid angiopathy 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.