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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
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  disease 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        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 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            cerebrovascular disease 800
              intracranial arterial disease 232
                cerebral arterial disease 188
                  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.