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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:congenital diarrhea 5 with tufting enteropathy
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Accession:DOID:0060776 term browser browse the term
Definition:A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. (DO)
Synonyms:exact_synonym: CTE;   DIAR5;   congenital diarrhoea 5 with tufting enteropathy;   congenital familial intractable diarrhea with epithelial or epithelium abnormalities;   congenital familial intractable diarrhoea with epithelial or epithelium abnormalities;   congenital tufting enteropathy;   intestinal epithelial cell dysplasia;   tufting enteropathy
 primary_id: MESH:C567703
 alt_id: OMIM:613217
 xref: NCI:C183530;   ORDO:92050


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congenital diarrhea 5 with tufting enteropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613217
ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy | ClinVar Annotator: match by term: INTESTINAL EPITHELIAL CELL DYSPLASIA		 OMIM
CTD
MouseDO
ClinVar		 PMID:18572020 PMID:19820410 PMID:20034091 PMID:21315192 PMID:23462293 More... NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Malabsorption Syndromes 214
        congenital diarrhea 5 with tufting enteropathy 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                congenital diarrhea 5 with tufting enteropathy 1
paths to the root