congenital malabsorptive diarrhea 4

Term ID

DOID:0060779

Synonyms

• congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
• congenital malabsorptive diarrhoea 4
• congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells
• enteric anendocrinosis

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

References

• ICD10CM:P78.3
• OMIM:610370
• ORDO:83620

Ontology

Human Disease   ( DOID:0060779 )