Details of Disease

General Information of Disease (ID: DISCITSF)

Disease Name Sifrim-Hitz-Weiss syndrome
Synonyms
Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome; Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome; SIHIWES; Sifrim-Hitz-Weiss syndrome; SIHIWES; Sifrim-Hitz-Weiss syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISCITSF: Sifrim-Hitz-Weiss syndrome
Disease Identifiers
MONDO ID
MONDO_0014946
UMLS CUI
C4310688
OMIM ID
617159
MedGen ID
934655

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
CHD4 OTBDEHDP Strong Autosomal dominant [1]
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References

1 Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. Development. 2015 Aug 1;142(15):2586-97. doi: 10.1242/dev.125450. Epub 2015 Jun 26.