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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

GARD:7039

ICD10CM:P78.3

MESH:C537470

OMIM:251850

ORDO:2290

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

is_a autosomal recessive disease

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