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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619325
http://purl.bioontology.org/ontology/OMIM/619325
|
|---|---|
| Preferred Name | COFFIN-SIRIS SYNDROME 12 |
| Synonyms |
CSS12
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CSS12
|
|---|---|
| prefLabel | COFFIN-SIRIS SYNDROME 12
|
| Gene Symbol |
BICRA
CSS12
GLTSCR1
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the BRD4-interacting chromatin remodeling complex-associated protein gene (BICRA, 605690.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 19q13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619325
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5444111
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |