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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 chr11:68,936,477...68,942,490
Ensembl chr11:68,936,473...68,942,490 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 7:25,455,925...25,488,502
Ensembl chr 7:25,456,698...25,488,130 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar PMID:28492532 NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 1:80,242,640...80,318,426
Ensembl chr 1:80,242,640...80,318,197 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		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 9:98,920,455...99,022,264
Ensembl chr 9:98,918,707...99,022,674 		JBrowse link
G Ptprs protein tyrosine phosphatase receptor type S ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr17:56,719,426...56,783,480
Ensembl chr17:56,719,426...56,783,483 		JBrowse link
G Runx1t1 RUNX1 translocation partner 1 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 4:13,742,628...13,895,056
Ensembl chr 4:13,743,436...13,893,649 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: NK-cell enteropathy ClinVar NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		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 chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      gastrointestinal system disease 6748
        NATURAL KILLER CELL ENTEROPATHY 13
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Immune & Inflammatory Diseases 5172
        immune system disease 4464
          lymphatic system disease 1635
            lymphoproliferative syndrome 1030
              NATURAL KILLER CELL ENTEROPATHY 13
paths to the root