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Summary Literature (0)
DOID:0060779 - congenital malabsorptive diarrhea 4

Disease Ontology 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.

Synonyms: congenital malabsorptive diarrhoea 4, congenital malabsorptive diarrhea due to paucity of enteroendocrine cells, congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency, congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells, enteric anendocrinosis

Xenbase Genes : neurog3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012479 - congenital malabsorptive diarrhea 4

MIM:
MIM:610370 - DIARRHEA 4, MALABSORPTIVE, CONGENITAL; DIAR4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), congenital diarrhea (is_a)