Details of Disease | DrugMAP

General Information of Disease (ID: DISWIFB9)

Disease Name	Atelis syndrome 2
Disease Hierarchy	DIS9GX5N: Atelis syndrome DIS5QTMU: Mosaic variegated aneuploidy syndrome DISWIFB9: Atelis syndrome 2
Disease Identifiers	MONDO ID MONDO_0859576 UMLS CUI C5774282 OMIM ID 620185 MedGen ID 1824055

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
SMC5	OT91M6N4	Strong	Autosomal recessive	[1]
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References

1	Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8.