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Summary Literature (0)
DOID:0060775 - microvillus inclusion disease


Disease Ontology Definition:A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.

Synonyms: Davidson disease, MVD, congenital familial protracted diarrhea with enterocyte brush-border abnormalities, congenital microvillus atrophy, diarrhea 2 with microvillus atrophy, intractable diarrhea of infancy

In OMIM:
OMIM:251850 - DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2

In Mondo Disease Ontology:
MONDO:0009635 - microvillus inclusion disease

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : myo5b, stx3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): congenital diarrhea (is_a)