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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:inflammatory bowel disease 1
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Accession:DOID:0110892 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. (DO)
Synonyms:exact_synonym: IBD1
 xref: MONDO:0009960


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inflammatory bowel disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:25741868 PMID:28126021 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISS
ISO		 OMIM:266600
ClinVar Annotator: match by term: Inflammatory bowel disease 1		 MouseDO
ClinVar		 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 More... NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704 		JBrowse link
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:27492617 PMID:28492532 PMID:32897876 PMID:33139556 NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            inflammatory bowel disease 1 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5574
        Inflammation 2768
          gastroenteritis 565
            inflammatory bowel disease 481
              inflammatory bowel disease 1 4
paths to the root