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 [email protected]@n_vasilevsky @MonarchInit @hp_ontology
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Empowering patients by increasing accessibility to clinical terminology
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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
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…