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Disease Ontology Term: microvillus inclusion disease

DO ID
DOID:0060775
Description
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
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