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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
ISS
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 chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Moyamoya disease ClinVar NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISS OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link
G Rnf213 ring finger protein 213 ISS OMIM:252350 | OMIM:300845 | OMIM:607151 | OMIM:608796 | OMIM:614042 | OMIM:615750 MouseDO NCBI chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:16723886 RGD:1580650 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
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 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
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 ClinVar Annotator: match by OMIM:607151
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 chr10:108,527,351...108,626,372
Ensembl chr10:108,527,740...108,624,688
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:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
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:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
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 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 chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
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 ClinVar
OMIM
PMID:24581742 PMID:25741868 PMID:26777256 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      cardiovascular system disease 4371
        vascular disease 3309
          Arterial Occlusive Diseases 644
            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 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            cerebrovascular disease 817
              intracranial arterial disease 257
                cerebral arterial disease 203
                  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