congenital megabladder

Term ID

DOID:0112014

Synonyms

• MGBL

Definition

A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. https://pubmed.ncbi.nlm.nih.gov/31513549/

References

• OMIM:618719

Ontology

Human Disease   ( DOID:0112014 )