80% of rare diseases have a underlying genetic cause. For rare and undiagnosed diseases, it is common that the phenotype profile does not match any known diseases, and the best candidate variants may be in genes about which we know very little. Rationale for HPO: We can use descriptions of their phenotypes to help inform these kinds of diagnoses, if we had a structured semantic way of representing phenotypes.
The Human Phenotype Ontology fills this need.
The HPO is a clinical terminology, but often times patients can be the best and most effective source of phenotyping information on their condition. However, not all patients are medical experts or have the time to commit to researching the medical literature. This project aims to make the clinical vocabulary more accessible to patients by adding layperson synonyms to the medical terminology in the HPO. This will also enhance the interoperability for clinicians, as they can search for more colloquial terms that patients may be using. -- Increase accessibility for patients Enhance interoperability for clinicians Enable crowdsourcing by citizen scientists
44% of the HPO is layperson
There are a number of orgs, We are working with inspire and clingen to design layperson HPO validation exps
Librarians can promote the HPO out to patients and clinicians alike.
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
October 18, 2016
@n_vasilevsky @MonarchInit @hp_ontology
80% of rare disease cases
are genetic and present
with distinct phenotypes
Human Phenotype Ontology
Standardized vocabulary of
encountered in human
HPO currently contains
approximately 12,000 terms
How do we make HPO accessible so
patients can phenotype themselves?
Pref Label: Microcephaly
Synonyms: Decreased Head Circumference;
Reduced Head Circumference; Small head
Suggested Synonyms : Small head;
Abnormally small head; Small skull; Small
Human Phenotype Ontology, now with 6,200
plain language synonyms
for patients, families, and non-experts
Community Contributions Welcome
HPO can be integrated into
Promote accessibility of HPO
to patients and interoperability
and clinicians and researchers
Enhance rare disease
Any questions ?
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