Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
go back to main search page
Accession:DOID:9009237 term browser browse the term
Synonyms:exact_synonym: IBDIMDE
 primary_id: MIM:618213
 xref: EFO:0010258



show annotations for term's descendants           Sort by:
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease, immunodeficiency, and encephalopathy OMIM
ClinVar
PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      immune system disease 4928
        INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      nervous system disease 14261
        central nervous system disease 12590
          brain disease 11817
            Metabolic Brain Diseases 1509
              INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 1
paths to the root