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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:Visceral Myopathy 2
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Accession:DOID:9009175 term browser browse the term
Definition:Characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Caused by heterozygous mutation in the MYH11 gene on chromosome 16p13. (OMIM)
Synonyms:exact_synonym: VSCM2
 primary_id: OMIM:619350


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        intestinal pseudo-obstruction 24
          Familial Visceral Myopathy 9
            Visceral Myopathy 2 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        intestinal disease 3073
          intestinal obstruction 211
            ileus 32
              intestinal pseudo-obstruction 24
                Familial Visceral Myopathy 9
                  Visceral Myopathy 2 2
paths to the root