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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609629
http://purl.bioontology.org/ontology/OMIM/609629
|
|---|---|
| Preferred Name | VISCERAL NEUROPATHY, FAMILIAL, 3, AUTOSOMAL DOMINANT |
| Synonyms |
ENTERIC NEUROPATHY, FAMILIAL
PSEUDOOBSTRUCTION, CHRONIC INTESTINAL, NEUROPATHIC
VSCN3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ENTERIC NEUROPATHY, FAMILIAL
PSEUDOOBSTRUCTION, CHRONIC INTESTINAL, NEUROPATHIC
VSCN3
|
|---|---|
| prefLabel | VISCERAL NEUROPATHY, FAMILIAL, 3, AUTOSOMAL DOMINANT
|
| Scope Statement | Intrafamilial phenotypic variability [MISCELLANEOUS]
Onset of symptoms ranges from first to seventh decade of life [MISCELLANEOUS]
Some patients have normal pupillary responses [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
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| MIMTYPEMEANING | Mendelian phenotype or locus, molecular basis unknown.
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| notation | 609629
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1864996
|
| OMIM Entry Type | 5
|
| OMIM MimType Value | perc
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |