Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:28422808 NCBI chr 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        intestinal pseudo-obstruction 22
          autosomal dominant familial visceral neuropathy 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      gastrointestinal system disease 4672
        Gastrointestinal Diseases 2598
          intestinal disease 1495
            intestinal obstruction 38
              ileus 27
                intestinal pseudo-obstruction 22
                  Familial Visceral Myopathy 6
                    autosomal dominant familial visceral neuropathy 1
paths to the root

NHLBI Logo

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