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DO Term : congenital diarrhea 7 with exudative enteropathy [DOID:0060778] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 exudative enteropathy,
  • congenital chronic diarrhoea with exudative enteropathy,
  • ICD10CM:P78.3,
  • congenital diarrhoea 7 with exudative enteropathy,
  • congenital chronic diarrhoea with protein-losing enteropathy,
  • congenital chronic diarrhea with protein-losing enteropathy,
  • ORDO:329242,
  • OMIM:615863,
  • 615863
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