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ONTOLOGY REPORT - ANNOTATIONS


Term:CST3-related cerebral amyloid angiopathy
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Accession:DOID:0070027 term browser browse the term
Definition:A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21. (DO)
Synonyms:exact_synonym: Amyloidosis VI;   Autosomal Dominant Cerebrovascular Amyloidosis;   Cerebral Amyloid Angiopathy, Familial;   Cerebral Amyloid Angiopathy, Genetic;   Dutch Type Hereditary Cerebral Amyloid Angiopathy;   HCHWA;   Hereditary Cerebral Amyloid Angiopathy;   Hereditary Cerebral Hemorrhage With Amyloidosis;   Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant;   Icelandic Type Amyloidosis;   Icelandic type hereditary cerebral amyloid angiopathy;   cerebroarterial amyloidosis, Icelandic type
 primary_id: MESH:D028243
 alt_id: OMIM:105150;   RDO:0004152
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CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:8554872
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:7240710
RGD:8554872
RGD:11554173
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          Familial Amyloidosis 20
            CST3-related cerebral amyloid angiopathy 3
              ITM2B-related cerebral amyloid angiopathy 1 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
            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
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.