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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 2
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Accession:DOID:9007536 term browser browse the term
Synonyms:exact_synonym: MYMY2
 primary_id: MESH:C536992
 alt_id: OMIM:607151
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      cardiovascular system disease 4395
        vascular disease 3322
          Arterial Occlusive Diseases 645
            Moyamoya disease 7
              Moyamoya Disease 2 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            cerebrovascular disease 819
              intracranial arterial disease 257
                cerebral arterial disease 203
                  Moyamoya disease 7
                    Moyamoya Disease 2 1
paths to the root