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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the CST3 gene 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: MIM:105150;   RDO:0004152


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CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25604855 PMID:25741868 PMID:28492532 PMID:30279455 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type		 OMIM
CTD
ClinVar		 PMID:2363674 PMID:2567273 PMID:2900981 PMID:8108423 PMID:11815350 More... NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Presenile dementia with spastic ataxia OMIM
ClinVar
RGD		 PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 More... RGD:1358403 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        inherited metabolic disorder 6608
          Familial Amyloidosis 33
            CST3-related cerebral amyloid angiopathy 3
              ITM2B-related cerebral amyloid angiopathy 1 1
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        central nervous system disease 12570
          brain disease 11791
            cerebrovascular disease 995
              intracranial arterial disease 326
                cerebral arterial disease 249
                  cerebral amyloid angiopathy 11
                    CST3-related cerebral amyloid angiopathy 3
                      ITM2B-related cerebral amyloid angiopathy 1 1
paths to the root