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Metadata
ID DOID:0060779
Name congenital malabsorptive diarrhea 4
Definition A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3.
https://www.ncbi.nlm.nih.gov/pubmed/16855267
Xrefs

ICD10CM:P78.3

MIM:610370

ORDO:83620

Subsets

DO_rare_slim

Synonyms

congenital malabsorptive diarrhea due to paucity of enteroendocrine cells [EXACT]

congenital malabsorptive diarrhoea 4 [EXACT]

congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells [EXACT]

enteric anendocrinosis [EXACT]

Parent Relationships

is_a congenital diarrhea

is_a autosomal recessive disease

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