| Metadata | |
|---|---|
| ID | DOID:0060778 |
| Name | congenital diarrhea 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital chronic diarrhea with exudative enteropathy [EXACT] congenital chronic diarrhea with protein-losing enteropathy [EXACT] congenital chronic diarrhoea with exudative enteropathy [EXACT] congenital chronic diarrhoea with protein-losing enteropathy [EXACT] congenital diarrhoea 7 with exudative enteropathy [EXACT] |
| Parent Relationships |
is_a congenital diarrhea |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some diarrhea disease has basis in some Abnormality of prenatal development or birth |