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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 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 chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr14:100,927,305...100,954,781 JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr12:3,254,794...3,300,835
Ensembl chr12:3,254,493...3,300,835
JBrowse link
Moyamoya Disease 1 term browser
Symbol Object Name 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 8:44,448,758...44,520,737
Ensembl chr 8:44,449,232...44,518,135
JBrowse link
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name 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:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743
JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,453,249
JBrowse link
Moyamoya Disease 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO OMIM NCBI chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO OMIM NCBI chr 8:44,448,758...44,520,737
Ensembl chr 8:44,449,232...44,518,135
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12715
    disease of anatomical entity 12258
      cardiovascular system disease 3303
        vascular disease 2397
          Arterial Occlusive Diseases 582
            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 12715
    disease of anatomical entity 12258
      nervous system disease 9999
        central nervous system disease 8451
          brain disease 7813
            cerebrovascular disease 778
              intracranial arterial disease 244
                cerebral arterial disease 194
                  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