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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 1 252,537,614 252,550,394 RGD:8554872
RGD:13592920
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:8554872
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 2 181,045,694 181,103,321 RGD:13592920
G Rnf213 ring finger protein 213 JBrowse link 10 108,527,351 108,626,372 RGD:13592920
G Timp2 TIMP metallopeptidase inhibitor 2 JBrowse link 10 107,338,465 107,386,072 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 2 181,045,694 181,103,321 RGD:8554872
Moyamoya Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf213 ring finger protein 213 JBrowse link 10 108,527,351 108,626,372 RGD:8554872
RGD:7240710
RGD:11554173
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 157,094,365 157,126,397 RGD:8554872
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:8554872
Moyamoya Disease 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:7240710
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 2 181,045,694 181,103,321 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      cardiovascular system disease 4232
        vascular disease 3272
          Arterial Occlusive Diseases 633
            Moyamoya disease 7
              Moyamoya Disease 1 1
              Moyamoya Disease 2 1
              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 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            cerebrovascular disease 799
              intracranial arterial disease 241
                cerebral arterial disease 195
                  Moyamoya disease 7
                    Moyamoya Disease 1 1
                    Moyamoya Disease 2 1
                    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.