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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| 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
|
| notation |
609629
|
| 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]
|
| OMIM MimType Value |
perc
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
5
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown.
|
| tui |
T047
|
| cui |
C1864996
|
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