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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615849
http://purl.bioontology.org/ontology/OMIM/615849
|
|---|---|
| Preferred Name | CULLER-JONES SYNDROME |
| Synonyms |
CJS
PALLISTER-HALL SYNDROME 2, FORMERLY
PHS2, FORMERLY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CJS
PALLISTER-HALL SYNDROME 2, FORMERLY
PHS2, FORMERLY
|
|---|---|
| prefLabel | CULLER-JONES SYNDROME
|
| Gene Symbol |
CJS
GLI2
HPE9
|
| Scope Statement | Variable phenotype [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Variable expressivity [MISCELLANEOUS]
Caused by mutation in the GLI-kruppel family member 2 gene (GLI2, 165230.0008) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 2q14
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 615849
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4014479
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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 |