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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 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Mungan Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      gastrointestinal system disease 4673
        Gastrointestinal Diseases 2599
          intestinal disease 1496
            intestinal obstruction 38
              ileus 27
                intestinal pseudo-obstruction 22
                  Mungan Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.