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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619033
http://purl.bioontology.org/ontology/OMIM/619033
|
|---|---|
| Preferred Name | VISSERS-BODMER SYNDROME |
| Synonyms |
VIBOS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | VIBOS
|
|---|---|
| prefLabel | VISSERS-BODMER SYNDROME
|
| Gene Symbol |
CNOT1
VIBOS
HPE12
NOT1
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Caused by mutation in the CCR4-NOT transcription complex, subunit 1 gene (CNOT1, 604917.0002) [MOLECULAR BASIS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619033
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5436647
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |