Details of Disease

General Information of Disease (ID: DISBTHTO)

Disease Name Muscular dystrophy, congenital, with or without seizures
Disease Hierarchy
DISYKSRF: Genetic disease
DISBTHTO: Muscular dystrophy, congenital, with or without seizures
Disease Identifiers
MONDO ID
MONDO_0859336
UMLS CUI
C5774274
OMIM ID
620166
MedGen ID
1824047

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
GOSR2 OTYHIYN2 Limited Unknown [1]
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References

1 Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.