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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 14 100,868,145 100,886,732 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 14 100,927,305 100,954,781 RGD:9068941
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 8 44,448,758 44,520,737 RGD:9068941
G TIMP2 TIMP metallopeptidase inhibitor 2 JBrowse link 12 3,254,794 3,300,835 RGD:9068941
Moyamoya Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 8 44,448,758 44,520,737 RGD:9068941
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 124,456,999 124,484,923 RGD:9068941
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 124,435,282 124,452,182 RGD:9068941
Moyamoya Disease 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTA2 actin alpha 2, smooth muscle JBrowse link 14 100,868,145 100,886,732 RGD:7240710
RGD:9068941
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 8 44,448,758 44,520,737 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12169
    disease of anatomical entity 11831
      cardiovascular system disease 3185
        vascular disease 2324
          Arterial Occlusive Diseases 576
            Moyamoya disease 6
              Moyamoya Disease 1 1
              Moyamoya Disease 2 0
              Moyamoya Disease 3 0
              Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
              Moyamoya Disease 5 1
              Moyamoya Disease 6 with Achalasia 1
Path 2
Term Annotations click to browse term
  disease 12169
    disease of anatomical entity 11831
      nervous system disease 9538
        central nervous system disease 7967
          brain disease 7362
            cerebrovascular disease 763
              intracranial arterial disease 232
                cerebral arterial disease 189
                  Moyamoya disease 6
                    Moyamoya Disease 1 1
                    Moyamoya Disease 2 0
                    Moyamoya Disease 3 0
                    Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
                    Moyamoya Disease 5 1
                    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.