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Enhancing	the	Human	Phenotype	Ontology	for	use	by	the	
Layperson	
Introduction
Nicole Vasilevsky1, Mark Engelstad1, Erin Foster1, 
Chris Mungall3, Peter Robinson2, Sebastian Köhler2, Melissa Haendel1

1Ontology Development Group, Oregon Health & Science University, Portland, OR, USA 
2Charité - Universitätsmedizin, Berlin, Germany, 3Lawrence Berkeley National Laboratory, Berkeley, CA, USA
Enhancing the Human Phenotype Ontology 
for Use by the Layperson
Human Phenotype Ontology
Workflow
 Outcomes
Many diseases present with
distinct phenotypes, making
computational description
critical for diagnostics
Patients are a good source of
phenotypic information and
need to participate in their
diagnostic odyssey
The Human Phenotype
Ontology can be used to
capture structured information
about patient phenotypes
§  Contains over 12,000 classes
describing human phenotypic
features
§  Used for clinical “deep phenotyping”
§  HPO annotations utilized in semantic
similarity analysis within and across
species for rare disease diagnostics
 4 | Synonym classification 
Exact synonyms: precise alternatives to the
HPO term
Broad synonyms: more general than the
HPO term
Narrow synonyms: more specific than HPO
term
Related synonyms: associated with the
HPO term. 
3 | Assign synonyms
Assign synonyms to existing classes or
mark existing synonyms as layperson
§  Wikipedia 
§  MedlinePlus
§  Mayo Clinic
§  OMIM
§  Uberon 
§  Elements of
Morphology
§  SNOMED CT
Browsers
§  Specialty texts
1 | Systematic review of HPO classes
Challenges
Use of HPO
The inclusion of plain language synonyms
will support patient-driven applications for
deep phenotyping, that can be utilized
clinical and computationally

44% of synonyms in HPO are layperson
HPO can be integrated into patient registries
and other platforms such as the following:
§  Recognizing when an HPO class did not have
an equivalent layperson synonym
e.g., joint contracture

§  Aligning synonyms with definition of HPO
classes
e.g., Neoplasm of breast ≠ Breast cancer

§  Applying synonyms consistently across HPO
classes and subclasses
e.g., “Yellowing of skin” à Jaundice,
Intermittent jaundice, Prolonged neonatal
jaundice
§  Continuous review of HPO OWL file
for quality assurance 
§ Valid	character-encoding	
§ Check	for	duplicated	synonyms	
§ Title	case	forma?ng
§  Check annotation consistency
between similar terms
§  Reviewed by 3 curators

6 | Quality Assurance
 
All synonyms
in HPO
Synonyms
marked as lay
All
synonyms
14,253
 6,240
Exact
 12,167
 5,357
Broad
 441
 298
Related 
 1,236
 419
Narrow
 409
 166
On the left is a mouse phenotypic profile using the
Mammalian Phenotype Ontology; on the right, a disease
profile using HPO. In the center are shown the
phenotypes in common based semantic similarity
matching.
Goal 
Add new layperson synonyms to
terms to increase the usability of the
HPO, and make it useful for data
interoperability for patients, clinicians,
and researchers
5 | Script in new synonyms to HPO
OWL file
§  Initial review in HPO OWL files in the
ontology editing tool, Protégé
§  HPO terms and synonyms were
downloaded to a spreadsheet to allow
sorting and grouping of terms
§  HPO curation team, with clinical and
biocuration expertise, cross-reviewed
each class
2 | Search for synonyms
Acknowledgements
This work is supported by NIH Office of Director grant:
1R24OD011883. Thank you to Tudor Groza and Julie
McMurry for their help. Apert’s syndrome image
credits available from monarchinitiative.org
Contact
Nicole Vasilevsky: vasilevs@ohsu.edu, 
@N_Vasilevsky
Sebastian Köhler: sebastian.koehler@charite.de
Monarch Initiative: @MonarchInit 

File available at:
www.purl.obolibrary.org/obo/hp.owl
Community contributions welcome!
https://github.com/obophenotype/human-
phenotype-ontology
@hp_ontology

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Enhancing the Human Phenotype Ontology for Use by the Layperson

  • 1. Enhancing the Human Phenotype Ontology for use by the Layperson Introduction Nicole Vasilevsky1, Mark Engelstad1, Erin Foster1, Chris Mungall3, Peter Robinson2, Sebastian Köhler2, Melissa Haendel1 1Ontology Development Group, Oregon Health & Science University, Portland, OR, USA 2Charité - Universitätsmedizin, Berlin, Germany, 3Lawrence Berkeley National Laboratory, Berkeley, CA, USA Enhancing the Human Phenotype Ontology for Use by the Layperson Human Phenotype Ontology Workflow Outcomes Many diseases present with distinct phenotypes, making computational description critical for diagnostics Patients are a good source of phenotypic information and need to participate in their diagnostic odyssey The Human Phenotype Ontology can be used to capture structured information about patient phenotypes §  Contains over 12,000 classes describing human phenotypic features §  Used for clinical “deep phenotyping” §  HPO annotations utilized in semantic similarity analysis within and across species for rare disease diagnostics 4 | Synonym classification Exact synonyms: precise alternatives to the HPO term Broad synonyms: more general than the HPO term Narrow synonyms: more specific than HPO term Related synonyms: associated with the HPO term. 3 | Assign synonyms Assign synonyms to existing classes or mark existing synonyms as layperson §  Wikipedia §  MedlinePlus §  Mayo Clinic §  OMIM §  Uberon §  Elements of Morphology §  SNOMED CT Browsers §  Specialty texts 1 | Systematic review of HPO classes Challenges Use of HPO The inclusion of plain language synonyms will support patient-driven applications for deep phenotyping, that can be utilized clinical and computationally 44% of synonyms in HPO are layperson HPO can be integrated into patient registries and other platforms such as the following: §  Recognizing when an HPO class did not have an equivalent layperson synonym e.g., joint contracture §  Aligning synonyms with definition of HPO classes e.g., Neoplasm of breast ≠ Breast cancer §  Applying synonyms consistently across HPO classes and subclasses e.g., “Yellowing of skin” à Jaundice, Intermittent jaundice, Prolonged neonatal jaundice §  Continuous review of HPO OWL file for quality assurance § Valid character-encoding § Check for duplicated synonyms § Title case forma?ng §  Check annotation consistency between similar terms §  Reviewed by 3 curators 6 | Quality Assurance   All synonyms in HPO Synonyms marked as lay All synonyms 14,253 6,240 Exact 12,167 5,357 Broad 441 298 Related 1,236 419 Narrow 409 166 On the left is a mouse phenotypic profile using the Mammalian Phenotype Ontology; on the right, a disease profile using HPO. In the center are shown the phenotypes in common based semantic similarity matching. Goal Add new layperson synonyms to terms to increase the usability of the HPO, and make it useful for data interoperability for patients, clinicians, and researchers 5 | Script in new synonyms to HPO OWL file §  Initial review in HPO OWL files in the ontology editing tool, Protégé §  HPO terms and synonyms were downloaded to a spreadsheet to allow sorting and grouping of terms §  HPO curation team, with clinical and biocuration expertise, cross-reviewed each class 2 | Search for synonyms Acknowledgements This work is supported by NIH Office of Director grant: 1R24OD011883. Thank you to Tudor Groza and Julie McMurry for their help. Apert’s syndrome image credits available from monarchinitiative.org Contact Nicole Vasilevsky: vasilevs@ohsu.edu, @N_Vasilevsky Sebastian Köhler: sebastian.koehler@charite.de Monarch Initiative: @MonarchInit File available at: www.purl.obolibrary.org/obo/hp.owl Community contributions welcome! https://github.com/obophenotype/human- phenotype-ontology @hp_ontology