Details of Disease

General Information of Disease (ID: DIS367X6)

Disease Name Myopathy, congenital, progressive, with scoliosis
Synonyms MYOSCO; myopathy, congenital, progressive, with scoliosis
Disease Hierarchy
DISLSK9G: Congenital myopathy
DIS367X6: Myopathy, congenital, progressive, with scoliosis
Disease Identifiers
MONDO ID
MONDO_0032821
UMLS CUI
C5231417
OMIM ID
618578
MedGen ID
1684769

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
PAX7 OTDMQRPO Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16.