Term Name: | microvillus inclusion disease |
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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 |
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. |
Ontology: | Human Disease [DOID:0060775] ( DOID:0060775 ) |