A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks.

Journal: Journal of neuromuscular diseases
Published Date: Jan 1, 2019

Abstract

BACKGROUND: Congenital Myotonic Dystrophy (CDM1) is a rare neuromuscular condition caused by a triplet repeat expansion in the DMPK gene. Despite there being a well-recognized clinical syndrome, there has not been an effort to use a standardized ontology system to describe the disease characteristics in existing literature. Thus, comparing or contrasting different cohorts from the literature can be challenging, and coding disease features for clinical research or for registry data items is not uniform. PhenoStacks is a visualization analytics tool which helps graphically illustrate phenotypes of patients with genetic disorders using Human Phenotype Ontology (HPO) terms and can sort phenotypes by different disease characteristics.

Authors

  • Madhavi Prasad
    Schulich School of Medicine and Dentistry, London, Canada.
  • Michael Glueck
    Department of Computer Science, University of Toronto, Toronto, Canada.
  • Delia Ceballos-Saenz
    Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, Canada.
  • Eugenio Zapata-Aldana
    Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, Canada.
  • Nicholas Johnson
    University of Utah School of Medicine, Utah, United States.
  • Craig Campbell
    Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, Canada.
  • Cam-Tu Emilie Nguyen
    Pediatric Neurology, CHU Sainte-Justine, Université de Montréal, Montreal, Canada.

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