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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 Small Vessel Diseases
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Accession:DOID:9007269 term browser browse the term
Definition:Pathological processes or diseases where cerebral MICROVESSELS show abnormalities. They are often associated with aging, hypertension and risk factors for lacunar infarcts (see LACUNAR INFARCTION); LEUKOARAIOSIS; and CEREBRAL HEMORRHAGE.
Synonyms:exact_synonym: Cerebral Microangiopathy;   brain small vessel disease;   cerebral microangiopathies;   cerebral small vessel disease
 primary_id: MESH:D059345
 alt_id: RDO:0009991
 xref: OMIM:PS175780
For additional species annotation, visit the Alliance of Genome Resources.


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Cerebral Small Vessel Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16598045 PMID:17696175 NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G Fga fibrinogen alpha chain ISO DNA:polymorphisms, haplotypes RGD PMID:17951283 RGD:5688761 NCBI chrNW_004936576:1,322,406...1,329,743 JBrowse link
G Fgg fibrinogen gamma chain ISO DNA:polymorphisms, haplotypes RGD PMID:17951283 RGD:5688761 NCBI chrNW_004936576:1,343,657...1,352,085 JBrowse link
G LOC101970607 selectin P ISO protein:increased expression:platelet RGD PMID:20885295 RGD:6296592 NCBI chrNW_004936481:17,076,660...17,112,501 JBrowse link
G Nr1d1 nuclear receptor subfamily 1 group D member 1 ISO DNA:SNPs, haplotypes:promoter, exon:rs939347, rs2071570, rs12941497 (human) RGD PMID:23083441 RGD:10448981 NCBI chrNW_004936490:15,206,194...15,213,858 JBrowse link
G Thbd thrombomodulin severity ISO protein:increased expression:artery endothelium RGD PMID:22170884 RGD:5684978 NCBI chrNW_004936620:2,563,900...2,568,117 JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chrNW_004936803:1,393,918...1,423,086 JBrowse link
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936621:2,088,606...2,128,579 JBrowse link
Brain Small Vessel Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Porencephaly 2
ClinVar Annotator: match by term: Acquired porencephaly
ClinVar PMID:18077766 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO OMIM NCBI chrNW_004936472:2,270,836...2,416,324 JBrowse link
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Acquired porencephaly ClinVar PMID:25741868 NCBI chrNW_004936474:740,582...763,294 JBrowse link
Brain Small Vessel Disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colgalt1 collagen beta(1-O)galactosyltransferase 1 ISO OMIM NCBI chrNW_004936596:3,377,805...3,395,124 JBrowse link
G Niban3 niban apoptosis regulator 3 ISO ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 3 ClinVar NCBI chrNW_004936596:3,399,045...3,411,431 JBrowse link
COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO OMIM NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 PMID:26467025 NCBI chrNW_004936472:2,270,836...2,416,324 JBrowse link
CST3-related cerebral amyloid angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101959175 amyloid beta precursor protein ISO ClinVar Annotator: match by term: Hereditary cerebral hemorrhage with amyloidosis ClinVar PMID:25741868 NCBI chrNW_004936640:1,549,977...1,787,436 JBrowse link
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chrNW_004936635:485,903...647,820 JBrowse link
G Gla galactosidase alpha ISO OMIM NCBI chrNW_004936813:474,938...484,753 JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry's disease ClinVar NCBI chrNW_004936485:18,782,890...18,795,942 JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:15702404 PMID:17532296 PMID:17555407 PMID:19621417 PMID:19823873 PMID:20031620 PMID:20505683 PMID:20821055 PMID:21598360 PMID:22241068 PMID:22437327 PMID:23109060 PMID:23378663 PMID:23935525 PMID:24033266 PMID:24386359 PMID:25382311 PMID:25611685 PMID:25741868 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:29215092 NCBI chrNW_004936813:474,938...484,753 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 OMIM NCBI chrNW_004936565:1,535,570...1,557,667 JBrowse link
Lacunar Strokes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a2 collagen type IV alpha 2 chain susceptibility ISO DNA:SNPs:: RGD PMID:28954878 RGD:13450933 NCBI chrNW_004936472:2,270,836...2,416,324 JBrowse link
MELAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22499341 NCBI chrNW_004936631:2,503,353...2,538,957 JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
Microscopic Polyangiitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cl1 C-X3-C motif chemokine ligand 1 severity ISO protein:increased expression:serum RGD PMID:19327232 RGD:9491765 NCBI chrNW_004936475:9,443,851...9,454,715 JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:blood, T cell RGD PMID:19327232 RGD:9491765 NCBI chrNW_004936473:28,508,726...28,535,640 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12943
    disease of anatomical entity 12618
      cardiovascular system disease 3268
        vascular disease 2367
          cerebrovascular disease 741
            Cerebral Small Vessel Diseases 27
              Brain Small Vessel Disease 2 3
              Brain Small Vessel Disease 3 2
              COL4A1-related familial vascular leukoencephalopathy 2
              CST3-related cerebral amyloid angiopathy + 2
              Dysphoric Cerebral Angiopathy 0
              Fabry disease + 9
              Lacunar Strokes 1
              MELAS syndrome + 5
              Microscopic Polyangiitis 2
Path 2
Term Annotations click to browse term
  disease 12943
    disease of anatomical entity 12618
      nervous system disease 10521
        central nervous system disease 9207
          brain disease 8643
            cerebrovascular disease 741
              Cerebral Small Vessel Diseases 27
                Brain Small Vessel Disease 2 3
                Brain Small Vessel Disease 3 2
                COL4A1-related familial vascular leukoencephalopathy 2
                CST3-related cerebral amyloid angiopathy + 2
                Dysphoric Cerebral Angiopathy 0
                Fabry disease + 9
                Lacunar Strokes 1
                MELAS syndrome + 5
                Microscopic Polyangiitis 2
paths to the root