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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/619695
http://purl.bioontology.org/ontology/OMIM/619695
|
|---|---|
| Preferred Name | RAUCH-STEINDL SYNDROME |
| Synonyms |
RAUST
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | RAUST
|
|---|---|
| prefLabel | RAUCH-STEINDL SYNDROME
|
| Gene Symbol |
NSD2
WHSC1
MMSET
RAUST
|
| notation | 619695
|
| Scope Statement | Onset in utero [MISCELLANEOUS]
Incomplete penetrance in those with inherited mutations [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Caused by mutation in the nuclear receptor-binding set domain protein 2 gene (NSD2, 602952.0001) [MOLECULAR BASIS]
De novo mutation (in most patients) [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 | 4p16.3
|
| tui | T047
|
| cui | C5562061
|
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