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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 6 with Achalasia
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Accession:DOID:9007087 term browser browse the term
Synonyms:exact_synonym: MYMY6
 primary_id: OMIM:615750;   RDO:9000430
For additional species annotation, visit the Alliance of Genome Resources.


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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      cardiovascular system disease 4399
        vascular disease 3323
          Arterial Occlusive Diseases 645
            Moyamoya disease 7
              Moyamoya Disease 6 with Achalasia 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          Otorhinolaryngologic Diseases 1266
            Pharyngeal Diseases 168
              Deglutition Disorders 29
                dyskinesia of esophagus 20
                  achalasia 10
                    Moyamoya Disease 6 with Achalasia 1
paths to the root