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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/609029
http://purl.bioontology.org/ontology/OMIM/609029
|
|---|---|
| Preferred Name | EMANUEL SYNDROME |
| Synonyms |
SUPERNUMERARY DER(22)t(11;22) SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | SUPERNUMERARY DER(22)t(11;22) SYNDROME
|
|---|---|
| prefLabel | EMANUEL SYNDROME
|
| Gene Symbol | DER22t11-22
|
| notation | 609029
|
| Scope Statement | Risk of affected offspring in paternal translocation carrier - 0-7% [MISCELLANEOUS]
Caused by non-Robertsonian constitutional translocation, (11|22)(q23|q11.2) [MOLECULAR BASIS]
Risk of affected offspring in maternal translocation carrier - 4-10% [MISCELLANEOUS]
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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 | 22q11.2
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| tui | T047
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| cui | C1836929
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