Details of Disease | DrugMAP

General Information of Disease (ID: DISHG26N)

Disease Name	Clark-Baraitser syndrome
Synonyms	mental retardation, autosomal dominant 49; autosomal dominant mental retardation 49; Baraitser syndrome; intellectual disability, tall stature, obesity, macrocephaly and typical facial features; mental retardation, tall stature, obesity, macrocephaly and typical facial features; autosomal dominant intellectual disability 49; MRD49; Clark-Baraitser syndrome; intellectual disability, autosomal dominant 49
Disease Hierarchy	DISD6L06: Autosomal dominant non-syndromic intellectual disability DISHG26N: Clark-Baraitser syndrome
Disease Identifiers	MONDO ID MONDO_0030914 MESH ID C536208 UMLS CUI C2931130 OMIM ID 617752 MedGen ID 443983 Orphanet ID 600731

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRIP12	TTG2CRH	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRIP12	OT2ORYIH	Strong	Autosomal dominant	[1]
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References

1	The E3 ubiquitin ligase activity of Trip12 is essential for mouse embryogenesis. PLoS One. 2011;6(10):e25871. doi: 10.1371/journal.pone.0025871. Epub 2011 Oct 18.