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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;   RDO:0015699
 xref: ORDO:92050
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:613217
ClinVar Annotator: match by term: Diarrhea 5, with tufting enteropathy, congenital
OMIM
ClinVar
PMID:18572020 PMID:19820410 PMID:20034091 PMID:20981223 PMID:21315192 PMID:23462293 PMID:24142340 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28701297 NCBI chr 6:11,282,194...11,308,870
Ensembl chr 6:11,281,964...11,298,216
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Malabsorption Syndromes 119
        congenital diarrhea 5 with tufting enteropathy 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                congenital diarrhea 5 with tufting enteropathy 1
paths to the root