On Orphanet’s Rare Diseases and Orphan Drugs Portal (https://www.orpha.net/consor/cgi-bin/index.php) you can now use a new application in English to search for a rare disease by clinical signs or symptoms .
Orphanet provides a clinical description of rare diseases using a range of clinical signs and symptoms. This description, based on cases published in the biomedical literature, uses the phenotypic abnormalities specified in the Human Phenotype Ontology, HPO.
The application is available at the following link: https://clinicalsigns.orphanet.app and in the section “Clinical signs and symptoms” you can search by entering signs and symptoms that interest you. In the search bar, enter the clinical sign/symptom you want to search for and select the corresponding HPO term.
The information provided is calculated for the entire population of patients in routine medical practice.