Empowering patients by increasing accessibility to clinical terminology
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Transcript of Empowering patients by increasing accessibility to clinical terminology
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
@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