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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: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
For additional species annotation, visit the Alliance of Genome Resources.

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Moyamoya disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP
IEA		 ClinVar Annotator: match by term: Moyamoya disease
OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750		 ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IEA OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G RNF213 ring finger protein 213 IEA OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr17:80,260,820...80,398,794
Ensembl chr17:80,260,866...80,398,786 		JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IAGP RGD PMID:16723886 RGD:1580650 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387 		JBrowse link
Moyamoya Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 1 ClinVar PMID:26777256 NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
Moyamoya Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF213 ring finger protein 213 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Moyamoya disease 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:25278557 PMID:25741868 PMID:28492532 PMID:31474762 NCBI chr17:80,260,820...80,398,794
Ensembl chr17:80,260,866...80,398,786 		JBrowse link
G RNF213-AS1 RNF213 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar PMID:21799892 PMID:25278557 PMID:25741868 PMID:28492532 PMID:31474762 NCBI chr17:80,351,830...80,415,168
Ensembl chr17:80,351,828...80,415,168 		JBrowse link
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 PMID:25741868 NCBI chr  X:153,700,492...153,724,746
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
Moyamoya Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ClinVar Annotator: match by term: Moyamoya disease 5 OMIM
ClinVar		 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17994018 PMID:19409525 PMID:20734336 PMID:20970362 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23253043 PMID:23613326 PMID:24033266 PMID:24293535 PMID:24621862 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:28492532 PMID:28652363 PMID:29300374 PMID:30341550 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 5 ClinVar PMID:17994018 PMID:19409525 PMID:25644172 PMID:25741868 PMID:26153420 PMID:28492532 PMID:28652363 PMID:30341550 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 IAGP ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia ClinVar
OMIM		 PMID:24581742 PMID:25741868 PMID:26777256 NCBI chr 4:155,666,725...155,737,059
Ensembl chr 4:155,666,726...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19895
    disease of anatomical entity 18508
      cardiovascular system disease 3913
        vascular disease 2809
          Arterial Occlusive Diseases 645
            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 19895
    disease of anatomical entity 18508
      nervous system disease 14510
        central nervous system disease 12749
          brain disease 11992
            cerebrovascular disease 834
              intracranial arterial disease 260
                cerebral arterial disease 205
                  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