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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:autosomal dominant familial visceral neuropathy
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Accession:DOID:0080682 term browser browse the term
Definition:An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. (DO)
Synonyms:exact_synonym: Enteric Neuropathy, Familial;   Pseudoobstruction, Chronic Intestinal, Neuropathic;   idiopathic intestinal pseudoobstruction
 primary_id: MESH:C566502
 alt_id: OMIM:609629
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant familial visceral neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant ClinVar PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25326635 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26813947 PMID:27007401 PMID:28422808 NCBI chr 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        intestinal pseudo-obstruction 22
          autosomal dominant familial visceral neuropathy 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      gastrointestinal system disease 6053
        Gastrointestinal Diseases 4138
          intestinal disease 2432
            intestinal obstruction 108
              ileus 27
                intestinal pseudo-obstruction 22
                  Familial Visceral Myopathy 5
                    autosomal dominant familial visceral neuropathy 1
paths to the root