About: congenital diarrhea 5 with tufting enteropathy

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease congenital diarrhea nodeID://b50939362 nodeID://b50939363
label	congenital diarrhea 5 with tufting enteropathy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060776
database_cross_reference	ICD10CM:P78.3 OMIM:613217 ORDO:92050
has_exact_synonym	congenital familial intractable diarrhea with epithelial or epithelium abnormalities (en) DIAR5 (en) congenital diarrhoea 5 with tufting enteropathy (en) congenital tufting enteropathy (en) tufting enteropathy (en) congenital familial intractable diarrhoea with epithelial or epithelium abnormalities (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939364

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