multisystemic smooth muscle dysfunction syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0013452


Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. [ https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease

definition

Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.

exactMatch

http://linkedlifedata.com/resource/umls/id/C3151201

http://identifiers.org/omim/613834

http://www.orpha.net/ORDO/Orphanet_404463

has exact synonym

multisystemic smooth muscle dysfunction syndrome

has related synonym

congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

id

MONDO:0013452

seeAlso

https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome