Congenital Diarrhea 5 With Tufting Enteropathy
Disease ID: disease_node_19335
Connections displayed (default: 10).
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| Dbxref | ICD10CM:P78.3, MIM:613217, ORDO:92050 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060774 |
| Data Source | DOID |
| Synonyms | 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, tufting enteropathy |
| Doid Label | congenital diarrhea 5 with tufting enteropathy |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19335 |
| Doid Id | DOID_0060776 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Diarrhea 5 With Tufting Enteropathy |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Diarrhea(ID:disease_node_19331) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)