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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 cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. (DO)
Synonyms:exact_synonym: MYMY;   Moya Moya disease;   Moyamoya syndrome;   cerebrovascular Moyamoya disease;   classic Moyamoya disease;   primary Moyamoya disease;   primary Moyamoya diseases;   progressive intracranial arterial occlusion;   progressive intracranial occlusive arteropathy (Moyamoya);   secondary Moyamoya disease
 primary_id: MESH:D009072
 xref: EFO:0004250;   GARD:7064;   ICD10CM:I67.5;   ICD9CM:437.5;   MONDO:0016820;   NCI:C84895;   OMIM:PS252350;   ORDO:2573;   ORDO:280679;   ORDO:401945
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
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 Annotator: match by term: Moyamoya syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Mir126b microRNA 126b treatment IDA RGD PMID:32644942 RGD:401850784 NCBI chr 3:9,415,087...9,415,159 JBrowse link
G Phactr1 phosphatase and actin regulator 1 disease_progression ISO DNA:missense mutation:CDS:c.13185159G>T (p.V265L) (human) RGD PMID:32411507 RGD:401900691 NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar PMID:33568546 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism:HLA-A02 RGD PMID:22234791 RGD:329961315 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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: MYMY1 ClinVar PMID:26777256 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
JBrowse link
Moyamoya Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Endov endonuclease V ISO ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar NCBI chr10:104,760,059...104,777,732
Ensembl chr10:104,760,137...104,775,969
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Moyamoya disease 2 ClinVar PMID:25741868 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Rnf213 ring finger protein 213 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition
OMIM
CTD
ClinVar
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:23110205 More... NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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 ClinVar Annotator: match by term: Moyamoya disease 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:646322 PMID:9536098 PMID:13129918 PMID:15138499 PMID:17576681 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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 ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
JBrowse link
Moyamoya Disease 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano1 anoctamin 1 ISO OMIM NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      cardiovascular system disease 5393
        vascular disease 4001
          Arterial Occlusive Diseases 838
            Moyamoya disease 11
              Moyamoya Disease 1 1
              Moyamoya Disease 2 3
              Moyamoya Disease 3 0
              Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 0
              Moyamoya Disease 5 1
              Moyamoya Disease 6 with Achalasia 1
              Moyamoya Disease 7 1
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            cerebrovascular disease 998
              intracranial arterial disease 324
                cerebral arterial disease 248
                  Moyamoya disease 11
                    Moyamoya Disease 1 1
                    Moyamoya Disease 2 3
                    Moyamoya Disease 3 0
                    Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 0
                    Moyamoya Disease 5 1
                    Moyamoya Disease 6 with Achalasia 1
                    Moyamoya Disease 7 1
paths to the root