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ONTOLOGY REPORT - ANNOTATIONS


Term:Moyamoya disease
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Accession:DOID:13099 term browser browse the term
Definition:A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults.
Synonyms:exact_synonym: MYMY;   Moya Moya disease;   Moyamoya Syndrome;   Primary Moyamoya Disease;   cerebrovascular Moyamoya disease;   classic Moyamoya disease;   primary Moyamoya diseases;   progressive intracranial arterial occlusion;   progressive intracranial occlusive arteropathy (Moyamoya);   secondary Moyamoya disease
 primary_id: MESH:D009072
 alt_id: RDO:0002727
 xref: GARD:7064;   ICD10CM:I67.5;   ICD9CM:437.5;   NCI:C84895;   OMIM:PS252350;   ORDO:2573;   ORDO:280679;   ORDO:401945
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Moyamoya disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 10 88,935,074 88,991,397 RGD:8554872
RGD:13592920
G ACTA2-AS1 ACTA2 antisense RNA 1 JBrowse link 10 88,932,684 88,939,974 RGD:8554872
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,059 RGD:8554872
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 4 155,666,710 155,737,059 RGD:13592920
G RNF213 ring finger protein 213 JBrowse link 17 80,260,820 80,398,794 RGD:13592920
G TIMP2 TIMP metallopeptidase inhibitor 2 JBrowse link 17 78,852,977 78,925,387 RGD:1580650
Moyamoya Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 4 155,666,710 155,737,059 RGD:8554872
Moyamoya Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF213 ring finger protein 213 JBrowse link 17 80,260,820 80,398,794 RGD:8554872
RGD:7240710
RGD:11554173
G RNF213-AS1 RNF213 antisense RNA 1 JBrowse link 17 80,351,830 80,415,168 RGD:8554872
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCAP31 B cell receptor associated protein 31 JBrowse link X 153,700,492 153,724,746 RGD:8554872
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 153,687,926 153,696,593 RGD:8554872
Moyamoya Disease 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 10 88,935,074 88,991,397 RGD:8554872
RGD:7240710
G ACTA2-AS1 ACTA2 antisense RNA 1 JBrowse link 10 88,932,684 88,939,974 RGD:8554872
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 4 155,666,710 155,737,059 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16658
    disease of anatomical entity 15639
      cardiovascular system disease 3583
        vascular disease 2634
          Arterial Occlusive Diseases 627
            Moyamoya disease 9
              Moyamoya Disease 1 1
              Moyamoya Disease 2 2
              Moyamoya Disease 3 0
              Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
              Moyamoya Disease 5 2
              Moyamoya Disease 6 with Achalasia 1
Path 2
Term Annotations click to browse term
  disease 16658
    disease of anatomical entity 15639
      nervous system disease 11921
        central nervous system disease 10079
          brain disease 9365
            cerebrovascular disease 816
              intracranial arterial disease 242
                cerebral arterial disease 197
                  Moyamoya disease 9
                    Moyamoya Disease 1 1
                    Moyamoya Disease 2 2
                    Moyamoya Disease 3 0
                    Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
                    Moyamoya Disease 5 2
                    Moyamoya Disease 6 with Achalasia 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.