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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/621185
http://purl.bioontology.org/ontology/OMIM/621185
|
|---|---|
| Preferred Name | HOUGE-JANSSENS SYNDROME 4 |
| Synonyms |
HJS4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HJS4
|
|---|---|
| prefLabel | HOUGE-JANSSENS SYNDROME 4
|
| Gene Symbol |
PPP2R5C
HJS4
|
| Scope Statement | Caused by mutation in the protein phosphatase 2, regulatory subunit B (B56), gamma gene (PPP2R5C, 601645.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q32.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 621185
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C6012718
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |