Metadata | |
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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 | |
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 |