Assistance to diagnosis tool


Phenomizer-Orphanet : a clinical diagnostic support tool developped using the Human Phenotype Ontology (HPO) and Orphanet data.

Phenomizer-Orphanet enables you to suggest a differential diagnosis by entering a combination of phenotypes using a controlled vocabulary (HPO). This web-based application is a beta-prototype using semantic similarity searches in ontologies.

Rare diseases are annotated with phenotypes from HPO by the Orphanet team.

The tool is maintained and developed by Sebastian K÷hler ( http://drseb.github.io/ ) .

The tool is funded by the E-RARE 3 project HIPBI-RD.


Not all rare diseases are currently annotated with their phenotypes as the annotation process is ongoing. This service is currently available for over 2,500 rare diseases. As Orphanet does not include information on common diseases, this service cannot be used as a support to differential diagnosis with common diseases which should always be considered first. Establishing a diagnosis remains the full responsibility of the clinician using Phenomizer-Orphanet.

Orphanet aims to provide rare disease information to healthcare professionals, patients, and their relatives, in order to contribute to improving the diagnosis, care and treatment of these diseases. Information in Orphanet is not intended to replace professional health care.

Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.