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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/609757
http://purl.bioontology.org/ontology/OMIM/609757
|
|---|---|
| Preferred Name | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME |
| Synonyms |
SOMERVILLE-VAN DER AA SYNDROME
CHROMOSOME 7q11.23 TRIPLICATION SYNDROME
CHROMOSOME 7q11.23 DUPLICATION SYNDROME
WBS DUPLICATION SYNDROME
WBS TRIPLICATION SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SOMERVILLE-VAN DER AA SYNDROME
CHROMOSOME 7q11.23 TRIPLICATION SYNDROME
CHROMOSOME 7q11.23 DUPLICATION SYNDROME
WBS DUPLICATION SYNDROME
WBS TRIPLICATION SYNDROME
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|---|---|
| prefLabel | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME
|
| Gene Symbol |
C7DUPq11.23
DUP7q11.23
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| notation | 609757
|
| Scope Statement | Contiguous gene deletion syndrome [MISCELLANEOUS]
Estimated population frequency of 1 in 13,000-20,000 [MISCELLANEOUS]
Based on review of 53 individuals aged 1.2-21.25 years and 11 affected adults (last curated February 2016) [MISCELLANEOUS]
Caused by duplication of 1.5 to 1.8 Mb on chromosome 7q11.23 [MOLECULAR BASIS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 7q11.23
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| tui | T047
|
| cui |
C3149767
C1857844
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