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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C537470
http://purl.bioontology.org/ontology/MESH/C537470
|
|---|---|
| Preferred Name | Microvillus inclusion disease |
| Synonyms |
Davidson disease
Microvillus atrophy, congenital
Intractable diarrhea of infancy
Diarrhea 2, With Microvillus Atrophy
Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Davidson disease
Microvillus atrophy, congenital
Intractable diarrhea of infancy
Diarrhea 2, With Microvillus Atrophy
Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
|
|---|---|
| prefLabel | Microvillus inclusion disease
|
| Scope Statement | A congenital hereditary disorder with autosomal recessive inheritance. It is characterized by intractable watery DIARRHEA during infancy. The early onset form manisfests in the neonatal period and late-onset appears within the first 3 or 4 months of life. Definite diagnosis is made by TRANSMISSION ELECTRON MICROSCOPY, where shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature ENTEROCYTES and peripheral accumulation of PAS REACTION - positive granules or vesicles in immature ENTEROCYTES is observed. Mutations in the MYO5B gene have been identified. OMIM: 251850
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| type | |
| tui | T047
|
| Has mapping qualifier | |
| HM |
D008871/Q000473
D008286
D009081
|
| SC | 3
|
| TERMUI |
T742710
T742714
T742711
T801450
T801449
T742712
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|
| TH |
OMIM (2013)
ORD (2010)
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| MMR | 20150818
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| notation | C537470
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| Semantic type UMLS property | |
| cui | C0341306
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| MeSH Frequency | 86
|
| DSC | 20100825
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| Inverse of RB | 0
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| Mapped to | |
| MDA | 20100825
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| Delete | Subject | Author | Type | Created |
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