congenital diarrhea 7 with exudative enteropathy

Summary

DOID:0060778 - congenital diarrhea 7 with exudative enteropathy

Disease Ontology Definition:A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3.

Synonyms: congenital chronic diarrhea with protein-losing enteropathy, congenital chronic diarrhea with exudative enteropathy, congenital chronic diarrhoea with exudative enteropathy, congenital chronic diarrhoea with protein-losing enteropathy, congenital diarrhoea 7 with exudative enteropathy

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dgat1

MIM:

MIM:615863 - diarrhea 7; diar7

MIM:615863 - diarrhea 7; diar7

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital diarrhea (is_a)