Visceral Myopathy 1

Preferred Label : Visceral Myopathy 1;

NCIt synonyms : VSCM1;

NCIt definition : An autosomal dominant type of functional intestinal obstruction caused by mutation(s) in the ACTG2 gene, encoding actin, gamma-enteric smooth muscle.;

NCI Metathesaurus CUI : CL1765804;

Details

Origin ID

C201588;

UMLS CUI

C5542197;

Has associated anatomic sites
- Digestive System [NCIt concept]
- Intestine [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Visceral myopathy 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
disease_mapped_to_gene
- ACTG2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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