congenital diarrhea 7 with exudative enteropathy

Summary
Synonym
  • 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.
Super Class
autosomal recessive disease congenital diarrhea
External Links
Disease Ontology
DOID:0060778
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8694 DGAT1 diacylglycerol O-acyltransferase 1
The Human Phenotype Ontology
Displaying entry 11 - 11 of 11 in total
HPO ID HPO Term
HP:0003077 Hyperlipidemia
Displaying 1 entry
Gene ID Gene Symbol Description
8694 DGAT1 diacylglycerol O-acyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024