Version: 8.0.0
Date: Tue Jan 28 2025
microvillus inclusion disease
DOID:0060775
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

microvillus inclusion disease

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
Cross References
Parent Terms
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