congenital tufting enteropathy
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
rare disease |
| gptkbp:affects |
intestine
|
| gptkbp:alsoKnownAs |
intestinal epithelial dysplasia
|
| gptkbp:diagnosedBy |
intestinal biopsy
|
| gptkbp:hasOrphanetID |
ORPHA:1990
|
| gptkbp:histology |
epithelial tufts
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital tufting enteropathy
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:EPCAM
SPINT2 |
| gptkbp:OMIM |
613217
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
failure to thrive
chronic diarrhea |
| gptkbp:treatment |
parenteral nutrition
intestinal transplantation |
| gptkbp:bfsParent |
gptkb:EPCAM
|
| gptkbp:bfsLayer |
6
|