RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
DIAR7; 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; diarrhea 7