Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:Total Intestinal Aganglionosis
go back to main search page
Accession:DOID:9003546 term browser browse the term
Definition:A rare, uniformly fatal condition with absence of ganglia from the duodenum to the rectum.
Synonyms:exact_synonym: Near-total intestinal aganglionosis
 primary_id: MESH:C538058
 alt_id: MIM:202550;   RDO:0003993


show annotations for term's descendants           Sort by:
Total Intestinal Aganglionosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ednrb endothelin receptor type B IAGP
ISO		 ClinVar Annotator: match by term: Aganglionosis, total intestinal ClinVar
RGD		 PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... RGD:6480217, RGD:6480215 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 PMID:22132166 RGD:6480217, RGD:6480215
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      gastrointestinal system disease 7172
        Digestive System Abnormalities 530
          Hirschsprung's disease 194
            Total Intestinal Aganglionosis 6
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      gastrointestinal system disease 7172
        intestinal disease 3105
          colonic disease 2324
            megacolon 409
              Hirschsprung's disease 194
                Total Intestinal Aganglionosis 6
paths to the root