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visceral myopathy

Disease Summary
Associated Targets (3)


Explore Associated Targets
Uniprot Description A rare inherited form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization.
Mondo Term and Equivalent IDs
MONDO:0020754:  visceral myopathy
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found