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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 ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:25741868 PMID:28492532 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
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 ISO ClinVar Annotator: match by term: Moyamoya disease 1 ClinVar PMID:26777256 NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Moyamoya disease 2
OMIM
CTD
ClinVar
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:25278557 PMID:25741868 PMID:28492532 PMID:31474762 NCBI chr17:74,688,130...74,823,973
Ensembl chr17:80,421,373...80,556,570
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 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 PMID:25741868 NCBI chr  X:143,265,920...143,274,956 JBrowse link
G LOC100975352 sodium- and chloride-dependent creatine transporter 1 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 Ensembl chr  X:153,126,415...153,133,189 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 ISO OMIM NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
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 ISO OMIM NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13609
    disease of anatomical entity 13268
      cardiovascular system disease 3292
        vascular disease 2368
          Arterial Occlusive Diseases 586
            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 13609
    disease of anatomical entity 13268
      nervous system disease 10968
        central nervous system disease 9616
          brain disease 9039
            cerebrovascular disease 766
              intracranial arterial disease 246
                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