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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617450
http://purl.bioontology.org/ontology/OMIM/617450
|
|---|---|
| Preferred Name | JANSEN-DE VRIES SYNDROME |
| Synonyms |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD, FORMERLY
IDDGIP, FORMERLY
JDVS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD, FORMERLY
IDDGIP, FORMERLY
JDVS
|
|---|---|
| prefLabel | JANSEN-DE VRIES SYNDROME
|
| Gene Symbol |
WIP1
PPM1D
JDVS
|
| Scope Statement | Caused by mutation in the protein phosphatase, magnesium/manganese-dependent, 1D gene (PPM1D, 605100.0001) [MOLECULAR BASIS]
De novo mutation [MISCELLANEOUS]
Variable features [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17q22-q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617450
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4479517
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |