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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607174
http://purl.bioontology.org/ontology/OMIM/607174
|
|---|---|
| Preferred Name | MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
|
|---|---|
| Gene Symbol |
NF2
SWNV
|
| Scope Statement | Adult onset [MISCELLANEOUS]
More common in women [MISCELLANEOUS]
Caused by mutation in the homolog of the Drosophila suppressor of fused gene (SUFU, 607035.0007) [MOLECULAR BASIS]
Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily 1, member 1 gene (SMARCE1, 603111.0002). [MOLECULAR BASIS]
High recurrence rate [MISCELLANEOUS]
Incomplete penetrance [MISCELLANEOUS]
Frequency increases with advancing age [MISCELLANEOUS]
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|
| type | |
| Has manifestation | |
| tui | T033
|
| Gene Locus | 22q12.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607174
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3551915
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |