Details of Disease | DrugMAP

General Information of Disease (ID: DISH0TNR)

Disease Name	Marbach-Rustad progeroid syndrome
Disease Hierarchy	DISSLPEK: Progeroid syndrome DISH0TNR: Marbach-Rustad progeroid syndrome
Disease Identifiers	MONDO ID MONDO_0859147 UMLS CUI C5543388 OMIM ID 619322 MedGen ID 1784907

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
LEMD2	OT0YLT7L	Strong	Autosomal dominant	[1]
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References

1	Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.