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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618362
http://purl.bioontology.org/ontology/OMIM/618362
|
|---|---|
| Preferred Name | COFFIN-SIRIS SYNDROME 8 |
| Synonyms |
CSS8
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CSS8
|
|---|---|
| prefLabel | COFFIN-SIRIS SYNDROME 8
|
| Gene Symbol |
SMARCC2
BAF170
CSS8
|
| Scope Statement | Caused by mutation in the SW1/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 gene (SMARCC2, 601734.0001) [MOLECULAR BASIS]
Variable dysmorphic features may be present [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 12q13-q14
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618362
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193054
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |