Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Visceral myopathy
Synonyms	VSCM
Definitions	(VSCM) - 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.
ID	http://identifiers.org/omim/155310
altLabel	VSCM
definition	(VSCM) - 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.
id	OMIM:155310
notation	OMIM:155310
prefLabel	Visceral myopathy
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/155310	GEXO	SAME_URI
http://identifiers.org/omim/155310	RETO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0020754	DOVES	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#13026	OCHV	LOOM
http://id.nlm.nih.gov/mesh/D007418	MDM	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0042781	OCHV	LOOM
http://identifiers.org/omim/155310	GEXO	LOOM
http://identifiers.org/omim/155310	RETO	LOOM