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/PNCOctober 18, 2016

vasilevs@ohsu.edu

@n_vasilevsky @MonarchInit @hp_ontology

10% of the US population has a rare

disease

80% of rare disease cases are genetic and present with distinct

phenotypes

Human Phenotype Ontology Standardized vocabulary of

phenotypic abnormalities encountered in human disease

HPO currently contains approximately 12,000 terms (still growing)

How do we make HPO accessible so patients can phenotype themselves?

HP:0000252Pref Label: MicrocephalySynonyms: Decreased Head Circumference; Reduced Head Circumference; Small head circumferenceSuggested Synonyms : Small head; Abnormally small head; Small skull; Small cranium…

Small headMicrocephaly

https://commons.wikimedia.org/wiki/File:Microcephaly.png#/media/File:Microcephaly.png

Human Phenotype Ontology, now with 6,200 plain language synonyms

for patients, families, and non-experts

www.human-phenotype-ontology.org

Apert’s Syndrome

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

Any questions ?You can find me at:

@n_vasilevskyvasilevs@ohsu.edu

Thanks!