congenital diarrhea 7 with exudative enteropathy

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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.

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Synonyms

• congenital chronic diarrhea with exudative enteropathy
• congenital chronic diarrhea with protein-losing enteropathy

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Cross References

• ICD10CM:P78.3
• MIM:615863

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Parent Terms

• autosomal recessive disease
• congenital diarrhea

Child Terms

None

Sources of Associations

• RGD
• MGI
• ZFIN
• FB
• WB
• SGD

Associated Genes

Associated Alleles

Associated Models