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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 1
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Accession:DOID:9005580 term browser browse the term
Synonyms:exact_synonym: MYMY1;   spontaneous occlusion of the circle of Willis
 primary_id: MESH:C536991
 alt_id: OMIM:252350;   RDO:0002726
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr15:53,172,914...53,236,200
Ensembl chr15:53,174,157...53,234,533
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13595
    disease of anatomical entity 13254
      cardiovascular system disease 3365
        vascular disease 2432
          Arterial Occlusive Diseases 584
            Moyamoya disease 7
              Moyamoya Disease 1 1
Path 2
Term Annotations click to browse term
  disease 13595
    disease of anatomical entity 13254
      nervous system disease 10970
        central nervous system disease 9605
          brain disease 9025
            cerebrovascular disease 778
              intracranial arterial disease 244
                cerebral arterial disease 194
                  Moyamoya disease 7
                    Moyamoya Disease 1 1
paths to the root