Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Empowering patients by increasing accessibility to clinical terminology

Flash talk at Medical Library Association Pacific Northwest Chapter meeting in Portland, OR on October 18, 2016.
http://pnc-mla.cloverpad.org/annual2016

Authors: Erin Foster, Mark Engelstad, Chris Mungall, Peter Robinson, Sebastian Kohler, Melissa Haendel and Nicole Vasilevsky

  • Be the first to comment

  • Be the first to like this

Empowering patients by increasing accessibility to clinical terminology

  1. 1. Empowering patients by increasing accessibility to clinical terminology Erin D. Foster, Mark E. Engelstad, Chris Mungall, Peter Robinson, Sebastian Kohler, Melissa Haendel, Nicole A. Vasilevsky MLA/PNC October 18, 2016 vasilevs@ohsu.edu @n_vasilevsky @MonarchInit @hp_ontology
  2. 2. 10% of the US population has a rare disease
  3. 3. 80% of rare disease cases are genetic and present with distinct phenotypes
  4. 4. Human Phenotype Ontology  Standardized vocabulary of phenotypic abnormalities encountered in human disease  HPO currently contains approximately 12,000 terms (still growing)
  5. 5. How do we make HPO accessible so patients can phenotype themselves? HP:0000252 Pref Label: Microcephaly Synonyms: Decreased Head Circumference; Reduced Head Circumference; Small head circumference Suggested Synonyms : Small head; Abnormally small head; Small skull; Small cranium… Small headMicrocephaly https://commons.wikimedia.org/wiki/File:Microcephaly.png#/media/File:Microcephaly.png
  6. 6. Human Phenotype Ontology, now with 6,200 plain language synonyms for patients, families, and non-experts www.human-phenotype-ontology.org Apert’s Syndrome
  7. 7. Community Contributions Welcome  HPO can be integrated into patient registries  Promote accessibility of HPO to patients and interoperability and clinicians and researchers  Enhance rare disease diagnosis www.human-phenotype-ontology.org
  8. 8. Any questions ? You can find me at: @n_vasilevsky vasilevs@ohsu.edu Thanks!

×