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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 Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:9238033 PMID:18510924 PMID:18510925 PMID:22826098 PMID:23800062 More... NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:88,160,988...88,175,102 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:28126021 NCBI chr20:3,853,496...3,860,223
Ensembl chr20:3,853,331...3,876,877 		JBrowse link
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:70,313,717...70,613,918
Ensembl chr18:70,311,990...70,613,918 		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 chr19:34,555,832...34,596,281
Ensembl chr19:34,555,832...34,722,846 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:25741868 NCBI chr17:72,156,215...72,288,508
Ensembl chr17:72,156,215...72,288,508 		JBrowse link
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 1 ClinVar PMID:25741868 PMID:27492617 PMID:28492532 PMID:32897876 PMID:33139556 NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:226,929,644...226,992,667 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            inflammatory bowel disease 1 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        Inflammation 2852
          gastroenteritis 571
            inflammatory bowel disease 488
              inflammatory bowel disease 1 6
paths to the root