Details of Disease | DrugMAP

General Information of Disease (ID: DISLJZW8)

Disease Name	Houge-Janssens syndrome 2
Synonyms	autosomal dominant non-syndromic intellectual disability 36; mental retardation, autosomal dominant 36; intellectual disability, autosomal dominant 36; mental retardation, autosomal dominant type 36; intellectual disability, autosomal dominant type 36; MRD36; autosomal dominant mental retardation 36; microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome; autosomal dominant intellectual disability 36
Disease Hierarchy	DISW4D10: Houge-Janssens syndrome DIS3HIWD: Autosomal dominant disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISLJZW8: Houge-Janssens syndrome 2
Disease Identifiers	MONDO ID MONDO_0014605 UMLS CUI C4225352 OMIM ID 616362 MedGen ID 899880 Orphanet ID 457284 SNOMED CT ID 1254650002

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
PPP2R1A	OTYA3GB4	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015 Mar 12;519(7542):223-8. doi: 10.1038/nature14135. Epub 2014 Dec 24.