microvillus inclusion disease

Summary

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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:251850 - diarrhea 2, with microvillus atrophy; diar2

MIM:251850 - diarrhea 2, with microvillus atrophy; diar2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital diarrhea (is_a)