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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:NATURAL KILLER CELL ENTEROPATHY
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Accession:DOID:9008350 term browser browse the term
Definition:A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma.
Synonyms:exact_synonym: NK (natural killer) cell enteropathy;   NK-cell enteropathy


show annotations for term's descendants           Sort by:
NATURAL KILLER CELL ENTEROPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837 		JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar PMID:28492532 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663 		JBrowse link
G Ptprs protein tyrosine phosphatase, receptor type, S ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 9:1,245,408...1,307,015
Ensembl chr 9:1,245,410...1,306,947 		JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        NATURAL KILLER CELL ENTEROPATHY 13
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          lymphatic system disease 1666
            lymphoproliferative syndrome 1053
              NATURAL KILLER CELL ENTEROPATHY 13
paths to the root