| 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 | |
| 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 |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some diarrhea disease has basis in some Abnormality of prenatal development or birth |