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Metadata
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://pubmed.ncbi.nlm.nih.gov/31778854/, https://www.ncbi.nlm.nih.gov/pubmed/23114594
Xrefs

ICD10CM:P78.3

MIM:615863

ORDO:329242

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

is_a autosomal recessive disease

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