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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/147791
http://purl.bioontology.org/ontology/OMIM/147791
|
|---|---|
| Preferred Name | JACOBSEN SYNDROME |
| Synonyms |
CHROMOSOME 11q DELETION SYNDROME
JBS
PARTIAL 11q MONOSOMY SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CHROMOSOME 11q DELETION SYNDROME
JBS
PARTIAL 11q MONOSOMY SYNDROME
|
|---|---|
| prefLabel | JACOBSEN SYNDROME
|
| Gene Symbol | JBS
|
| notation | 147791
|
| Scope Statement |
75% of affected individuals are female [MISCELLANEOUS]
Contiguous gene deletion syndrome [MISCELLANEOUS]
Caused by a deletion of 11q23 [MOLECULAR BASIS]
Incidence of 1 in 100,000 births [MISCELLANEOUS]
|
| 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.
|
| Gene Locus | 11q23.3-q25
|
| tui | T047
|
| cui | C0795841
|
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