General Information of Disease (ID: DISED2G0)

Disease Name Rauch-Steindl syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISED2G0: Rauch-Steindl syndrome
Disease Identifiers
MONDO ID
MONDO_0859219
UMLS CUI
C5562061
OMIM ID
619695
MedGen ID
1794271

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NSD2 OTQ6SW4R Strong Autosomal dominant [1]
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References

1 Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3.