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:
Ontology: Human Disease   (DOID:0060778)
OTHER congenital diarrhea 7 with exudative enteropathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DGAT1 Diarrhea 7, protein-losing enteropathy type 615863
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None