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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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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:25741868 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hereditary cerebral amyloid angiopathy, Icelandic type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2363674, PMID:2567273, PMID:2900981, PMID:8108423, PMID:18566660, PMID:25741868 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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 OMIM:176500 OMIM
ClinVar
PMID:10391242, PMID:21610757, PMID:11159188 RGD:1358403 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2232
          Familial Amyloidosis 31
            CST3-related cerebral amyloid angiopathy 3
              ITM2B-related cerebral amyloid angiopathy 1 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            cerebrovascular disease 831
              intracranial arterial disease 246
                cerebral arterial disease 198
                  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.