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ONTOLOGY REPORT - ANNOTATIONS


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
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Cerebral Small Vessel Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fga fibrinogen alpha chain JBrowse link 2 181,997,562 182,013,726 RGD:5688761
G Fgg fibrinogen gamma chain JBrowse link 2 181,987,080 181,994,523 RGD:5688761
G Nr1d1 nuclear receptor subfamily 1, group D, member 1 JBrowse link 10 86,683,875 86,690,815 RGD:10448981
G Selp selectin P JBrowse link 13 82,428,914 82,464,629 RGD:6296592
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:5684978
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankib1 ankyrin repeat and IBR domain containing 1 JBrowse link 4 27,473,477 27,597,206 RGD:8554872
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
Brain Small Vessel Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:7240710
RGD:8554872
Brain Small Vessel Disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colgalt1 collagen beta(1-O)galactosyltransferase 1 JBrowse link 16 20,039,969 20,052,277 RGD:7240710
RGD:8554872
COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:7240710
RGD:11554173
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872
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
Fabry disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12879402
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:13432161
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:11576234
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:1601350
RGD:8554872
RGD:11554173
RGD:7240710
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:6907117
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13432071
Fabry Disease, Cardiac Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
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:8554872
RGD:7240710
Lacunar Strokes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:13450933
MELAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:11554173
RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:11554173
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:5491184
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490235
RGD:8554872
RGD:11554173
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:5491173
RGD:8554872
RGD:11554173
RGD:5507825
RGD:5491184
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:11554173
RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
Microscopic Polyangiitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:9491765
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:9491765
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:8554872
RGD:11554173
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
RGD:11554173
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      cardiovascular system disease 4290
        vascular disease 3324
          cerebrovascular disease 803
            Cerebral Small Vessel Diseases 37
              Brain Small Vessel Disease 2 1
              Brain Small Vessel Disease 3 1
              COL4A1-related familial vascular leukoencephalopathy 2
              CST3-related cerebral amyloid angiopathy + 3
              Dysphoric Cerebral Angiopathy 0
              Fabry disease + 9
              Lacunar Strokes 1
              MELAS syndrome + 16
              Microscopic Polyangiitis 2
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            cerebrovascular disease 803
              Cerebral Small Vessel Diseases 37
                Brain Small Vessel Disease 2 1
                Brain Small Vessel Disease 3 1
                COL4A1-related familial vascular leukoencephalopathy 2
                CST3-related cerebral amyloid angiopathy + 3
                Dysphoric Cerebral Angiopathy 0
                Fabry disease + 9
                Lacunar Strokes 1
                MELAS syndrome + 16
                Microscopic Polyangiitis 2
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.