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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:Mungan Syndrome
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Accession:DOID:9003170 term browser browse the term
Synonyms:exact_synonym: MGS;   chronic idiopathic intestinal pseudoobstruction, with Barrett esophagus and cardiac abnormalities;   familial visceral neuromyopathy, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities
 primary_id: MESH:C548078
 alt_id: OMIM:611376;   RDO:0004658
For additional species annotation, visit the Alliance of Genome Resources.



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Mungan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Mungan syndrome OMIM
ClinVar
PMID:14638363 PMID:25575569 PMID:25741868 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Mungan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        Gastrointestinal Diseases 4157
          intestinal disease 2461
            intestinal obstruction 109
              ileus 28
                intestinal pseudo-obstruction 23
                  Mungan Syndrome 1
paths to the root