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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618027
http://purl.bioontology.org/ontology/OMIM/618027
|
|---|---|
| Preferred Name | COFFIN-SIRIS SYNDROME 7 |
| Synonyms |
CSS7
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CSS7
|
|---|---|
| prefLabel | COFFIN-SIRIS SYNDROME 7
|
| Gene Symbol |
UBID4
REQ
CSS7
DPF2
|
| Scope Statement | Variable phenotype [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the D4, zinc, and double PHD fingers family, member 2 gene (DPF2, 601671.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618027
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4747954
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |