Rare diseases
Find by signs and symptoms
Mark signs and symptoms and see which rare diseases describe them.
- PRO
- Healthcare professional
- Student
- For me and my family
Real capture from the appRare disease finder: selected signs, signs that would help tell them apart and diseases to review (Orphadata/HPO data)
- Orphadata Science: Free access data from Orphanet. © INSERM 1999. Licence CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Reorganised and drawn as charts by Anasalva; texts may be translated.
- This service/product is using the Human Phenotype Ontology.
What it does
Compares the signs you mark with the published phenotypes of each rare disease and ranks the matches by their frequencies. The sign names come from the HPO project.
Who it is for and when to use it
For professionals and students, and for families preparing for an appointment. It does not know the patient and leaves out common diseases: seeing a name on the list does not mean having that disease.
What you see in the app
A sign search, the ones you have marked and the ranked list of diseases.
The information in the app guides you and does not replace professional judgement.
More screens
Rare diseases to review, with the reason for each match between the selected signs and published phenotypes
- Orphadata Science: Free access data from Orphanet. © INSERM 1999. Licence CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Reorganised and drawn as charts by Anasalva; texts may be translated.
- This service/product is using the Human Phenotype Ontology.
