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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:cerebral amyloid angiopathy
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Accession:DOID:9246 term browser browse the term
Definition:An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. (DO)
Synonyms:exact_synonym: Amyloidosis - cerebral;   Congophilic Angiopathy;   Dutch hereditary cerebral amyloid angiopathy;   amyloid angiopathy;   cerebral amyloid angiopathies;   congophilic angiopathies;   hereditary cerebral haemorrhage with amyloidosis - Dutch type;   senile cerebral amyloid angiopathy;   sporadic cerebral amyloid angiopathy
 alt_id: DOID:9006118
 xref: EFO:0006790;   MESH:C538248;   MESH:D016657;   MONDO:0005620;   ORDO:85458


show annotations for term's descendants           Sort by:
cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aoc3 amine oxidase, copper containing 3 ISO associated with Alzheimer Disease;protein:increased expression:brain RGD PMID:17393059 RGD:2313919 NCBI chr10:86,773,018...86,780,961 JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:20739292 RGD:5508213 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:11061249 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21520056 PMID:31939705 NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:21107133 RGD:5148012 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:14595653 RGD:5688166 NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374 		JBrowse link
G Itm2b integral membrane protein 2B ISS MouseDO NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
G Mme membrane metallo-endopeptidase severity ISO associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human) RGD PMID:17021406 PMID:21382117 RGD:1600811, RGD:13801026 NCBI chr 2:149,806,826...149,957,381
Ensembl chr 2:149,872,291...149,953,463 		JBrowse link
G Olr1 oxidized low density lipoprotein receptor 1 ISO RGD PMID:16328515 RGD:1580993 NCBI chr 4:164,612,460...164,635,082
Ensembl chr 4:164,612,463...164,634,598 		JBrowse link
G Psen1 presenilin 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:109,060,352...109,106,189 		JBrowse link
APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT | ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT | ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related 		CTD
ClinVar
OMIM		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers 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 chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971 		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:11815350 More... NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name Qualifiers 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 ClinVar
OMIM
RGD		 PMID:10391242 PMID:21610757 PMID:25741868 PMID:28492532 PMID:31719132 More... RGD:1358403 NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        inherited metabolic disorder 3387
          cerebral amyloid angiopathy 11
            APP-related cerebral amyloid angiopathy 1
            CST3-related cerebral amyloid angiopathy + 3
            ITM2B-related cerebral amyloid angiopathy 1 1
            ITM2B-related cerebral amyloid angiopathy 2 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            cerebrovascular disease 985
              intracranial arterial disease 322
                cerebral arterial disease 251
                  cerebral amyloid angiopathy 11
                    APP-related cerebral amyloid angiopathy 1
                    CST3-related cerebral amyloid angiopathy + 3
                    ITM2B-related cerebral amyloid angiopathy 1 1
                    ITM2B-related cerebral amyloid angiopathy 2 1
paths to the root