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General Information
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| Term |
congenital diarrhea 5 with tufting enteropathy |
ID (Ontology) |
DOID:0060776 (Human Disease) |
| 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. |
| Also Known As |
"congenital diarrhoea 5 with tufting enteropathy" ; "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" ; "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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Relationships