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

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

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

: myo5b, stx3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009635 - microvillus inclusion disease

MONDO:0009635 - microvillus inclusion disease

MIM:

MIM:251850 - DIARRHEA 2, WITH MICROVILLUS ATROPHY, WITH OR WITHOUT CHOLESTASIS; DIAR2

MIM:251850 - DIARRHEA 2, WITH MICROVILLUS ATROPHY, WITH OR WITHOUT CHOLESTASIS; DIAR2

Other Model Organisms: Alliance, 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)