empowering patients by increasing accessibility to clinical terminology
TRANSCRIPT
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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
MLA/PNCOctober 18, 2016
@n_vasilevsky @MonarchInit @hp_ontology
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10% of the US population has a rare
disease
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80% of rare disease cases are genetic and present with distinct
phenotypes
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Human Phenotype Ontology Standardized vocabulary of
phenotypic abnormalities encountered in human disease
HPO currently contains approximately 12,000 terms (still growing)
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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
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Human Phenotype Ontology, now with 6,200 plain language synonyms
for patients, families, and non-experts
www.human-phenotype-ontology.org
Apert’s Syndrome
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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