Human Phenotype Ontology (HPO) and disease ontologies such as OrphaNet aim to provide standardized vocabularies of phenotypic abnormalities and human diseases. HPO and OrphaNet enable efficient patient data exchange and facilitate seamless communication between clinicians and researchers to detect novel disease-causing genes and address phenotype-genotype correlations.
Despite the ongoing efforts, there are still crucial, disease-specific gaps in HPO and OrphaNet disease ontology when describing rare, immunological diseases.
Our initiative brings together geneticists, medical doctors, bioinformatics, and immunologists. Organised into functional working groups, our aim is to systematically re-evaluate and complete HPO and OrphaNet disease ontology terms, and re-annotate diseases. Our kick-off workshop in Vienna from 10-11th September 2018 brought together 20 experts from different fields including geneticists, medical doctors, bioinformatics, and immunologists, both from the ESID Genetics working party, and ERN RITA. The participants reviewed, curated, updated and expanded ontologies for 16 different diseases, and suggested structural changes regarding multiple branches of the HPO tree, including infections, neutrophils and fever-related conditions.
Our next goals are to bring together more experts in order to foster re-annotation of all immune related diseases and re-evaluation of relevant HPO terms, in order to
- unify the nomenclature of patient phenotyping
- standardize patient characterization: clinician/researcher can characterize patients in a language independent manner
- allow for efficient data exchange between clinicians, laboratories and centers
- facilitate matching phenotypically similar patients to enable gene discovery
- allow for similarity measures across diseases/shared phenotypes.
If you are interested in joining our initiative, please feel free to register on the email list and contact us at: