Human genes for microvillus inclusion disease
Microvillus inclusion disease [DOID:0060775]
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: microvillus inclusion disease, DOID:0060775, microvillus inclusion disorder, microvillus inclusion syndrome, microvillus inclusion diseases ...