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ONTOLOGY REPORT - ANNOTATIONS


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 familial intractable diarrhea 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
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congenital diarrhea 5 with tufting enteropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epcam epithelial cell adhesion molecule JBrowse link 6 11,282,194 11,308,870 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Malabsorption Syndromes 114
        congenital diarrhea 5 with tufting enteropathy 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                congenital diarrhea 5 with tufting enteropathy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.