General Information of Disease (ID: DISNG8X5)

Disease Name Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Definition
Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISV66YX: Progressive muscular dystrophy
DISNG8X5: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Disease Identifiers
MONDO ID
MONDO_0016097
UMLS CUI
C4707359
MedGen ID
1631985
Orphanet ID
206546
SNOMED CT ID
765197008

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
DMD TT2TNRM Supportive X-linked [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DMD OTD21T5J Supportive X-linked [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.