Term Name: | congenital diarrhea 7 with exudative enteropathy |
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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 early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24. |
Ontology: | Human Disease [DOID:0060778] ( DOID:0060778 ) |