Details of Disease | DrugMAP

General Information of Disease (ID: DISFZZ07)

Disease Name	3M syndrome 2
Synonyms	3M2; three M syndrome type 2; three M syndrome 2; 3M syndrome 2; OBSL1 3-M syndrome; 3-M syndrome 2; 3-M syndrome caused by mutation in OBSL1
Definition	Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.
Disease Hierarchy	DISZ93BO: Primordial dwarfism and slender bone disorder DISGKJY3: 3-M syndrome DISFZZ07: 3M syndrome 2
Disease Identifiers	MONDO ID MONDO_0013039 MESH ID C567862 UMLS CUI C2752041 OMIM ID 612921 MedGen ID 414168

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
OBSL1	OT6M8M3J	Definitive	Autosomal recessive	[1]
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References

1	The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 May 28.