ZFIN Human Disease: congenital diarrhea 7 with exudative enteropathy

OBO ID: DOID:0060778

Term Name:	congenital diarrhea 7 with exudative enteropathy		Search Ontology:
Synonyms:	congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhoea 7 with exudative enteropathy
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. https://www.ncbi.nlm.nih.gov/pubmed/23114594
References:	ICD10CM:P78.3 OMIM:615863 ORDO:329242
Ontology:	Human Disease ( DOID:0060778 )

Relationships

is a type of:	autosomal recessive disease congenital diarrhea autosomal recessive disease congenital diarrhea Show first 5 Terms

OTHER congenital diarrhea 7 with exudative enteropathy PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DGAT1	dgat1b dgat1a	Diarrhea 7, protein-losing enteropathy type	615863

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None