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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616449
http://purl.bioontology.org/ontology/OMIM/616449
|
|---|---|
| Preferred Name | BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME |
| Synonyms |
BVSYS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | BVSYS
|
|---|---|
| prefLabel | BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
|
| Gene Symbol |
MED25
ARC92
BVSYS
PTOV2
|
| Scope Statement | Onset at birth [MISCELLANEOUS]
Dysmorphic features are variable [MISCELLANEOUS]
Caused by mutation in the mediator complex subunit 25 gene (MED25, 610197.0003) [MOLECULAR BASIS]
Seven patients from 4 families in Israel have been reported (last curated July 2015) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19q13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616449
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225323
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |