| Metadata | |
|---|---|
| ID | DOID:0060779 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060779 Copy |
| Name | congenital malabsorptive diarrhea 4 |
| Definition | A congenital diarrhea characterized by severe intestinal malabsorption and an absence of enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. https://pubmed.ncbi.nlm.nih.gov/36149814/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital malabsorptive diarrhea due to paucity of enteroendocrine cells [EXACT] congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency [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 |