Details of Disease | DrugMAP

General Information of Disease (ID: DISVPJLX)

Disease Name	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Disease Hierarchy	DIS5VW2P: Myopathy, proximal, and ophthalmoplegia DISDUT8O: Hereditary inclusion-body myopathy DISVPJLX: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Disease Identifiers	MONDO ID MONDO_0018206 UMLS CUI C5192594 MedGen ID 1673410 Orphanet ID 363677 SNOMED CT ID 787172004

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
MYH2	TTBIL13	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH2	OT7KE42L	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. Brain. 2013 Jul;136(Pt 7):e238. doi: 10.1093/brain/aws365. Epub 2013 Feb 6.