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Metadata
ID DOID:0060776
Name congenital diarrhea 5 with tufting enteropathy
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.
https://www.ncbi.nlm.nih.gov/pubmed/18572020, https://www.ncbi.nlm.nih.gov/pubmed/23462293
Xrefs

ICD10CM:P78.3

OMIM:613217

ORDO:92050

Synonyms

congenital familial intractable diarrhea with epithelial or epithelium abnormalities [EXACT]

congenital tufting enteropathy [EXACT]

DIAR5 [EXACT]

tufting enteropathy [EXACT]

Parent Relationships

is_a congenital diarrhea

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