Details of Disease

General Information of Disease (ID: DIS4Q9PL)

Disease Name Megabladder, congenital
Synonyms MEGABLADDER, CONGENITAL; MGBL
Disease Hierarchy
DISYKSRF: Genetic disease
DIS4Q9PL: Megabladder, congenital
Disease Identifiers
MONDO ID
MONDO_0032879
UMLS CUI
C5231472
OMIM ID
618719
MedGen ID
1684806

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
MYOCD OTSJNHTH Limited Autosomal dominant [1]
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References

1 Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. J Clin Invest. 2019 Dec 2;129(12):5374-5380. doi: 10.1172/JCI128545.