Details of Disease

General Information of Disease (ID: DISMFTI2)

Disease Name Rhabdomyolysis, susceptibility to, 1
Disease Hierarchy
DIS98MYE: Inherited disease susceptibility
DISMFTI2: Rhabdomyolysis, susceptibility to, 1
Disease Identifiers
MONDO ID
MONDO_0859371
UMLS CUI
C5774307
OMIM ID
620235
MedGen ID
1824080

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
OBSCN OTT14OVX Strong Autosomal recessive [1]
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References

1 Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484.