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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/251850
http://purl.bioontology.org/ontology/OMIM/251850
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|---|---|
| Preferred Name | DIARRHEA 2, WITH MICROVILLUS ATROPHY, WITH OR WITHOUT CHOLESTASIS |
| Synonyms |
DIARRHEA 2, WITH MICROVILLUS ATROPHY
DAVIDSON DISEASE
CONGENITAL FAMILIAL PROTRACTED DIARRHEA WITH ENTEROCYTE BRUSH-BORDER ABNORMALITIES
MICROVILLUS ATROPHY, CONGENITAL
MICROVILLUS INCLUSION DISEASE 1
DIAR2
MVID1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DIARRHEA 2, WITH MICROVILLUS ATROPHY
DAVIDSON DISEASE
CONGENITAL FAMILIAL PROTRACTED DIARRHEA WITH ENTEROCYTE BRUSH-BORDER ABNORMALITIES
MICROVILLUS ATROPHY, CONGENITAL
MICROVILLUS INCLUSION DISEASE 1
DIAR2
MVID1
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|---|---|
| prefLabel | DIARRHEA 2, WITH MICROVILLUS ATROPHY, WITH OR WITHOUT CHOLESTASIS
|
| Gene Symbol |
DIAR2
MYO5B
MVID1
KIAA1119
PFIC10
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| Scope Statement | Caused by mutation in the myosin VB gene (MYO5B, 606540.0001) [MOLECULAR BASIS]
Some patients exhibit cholestasis unrelated to parenteral nutrition [MISCELLANEOUS]
Infantile death (in some patients) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 18q21
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 251850
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0341306
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |