| Metadata | |
|---|---|
| ID | DOID:0060775 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/18724368 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital familial protracted diarrhea with enterocyte brush-border abnormalities [EXACT] congenital microvillus atrophy [EXACT] Davidson disease [EXACT] diarrhea 2 with microvillus atrophy [EXACT] intractable diarrhea of infancy [EXACT] MVD [EXACT] |
| Parent Relationships |
is_a congenital diarrhea |