Metadata | |
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ID | DOID:0060778 |
Name | congenital diarrhea 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. https://www.ncbi.nlm.nih.gov/pubmed/23114594, https://pubmed.ncbi.nlm.nih.gov/31778854/ |
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 |