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microvillus inclusion disease
Summary
- Synonym
-
- Davidson disease
- MVD
- congenital familial protracted diarrhea with enterocyte brush-border abnormalities
- congenital microvillus atrophy
- diarrhea 2 with microvillus atrophy
- intractable diarrhea of infancy
- 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.
- Super Class
- autosomal recessive disease congenital diarrhea
External Links
- Disease Ontology
- DOID:0060775
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
