Rare diseases

Associated phenotypes

The associated phenotypes of each rare disease, with Orphanet data.

Real capture from the appAlexander disease, Signs tab: HPO phenotypes grouped by frequency (very frequent 99-80%)

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

Lists the signs and symptoms associated with the disease and how often they occur.

For professionals, students, patients and families looking for reliable information on a rare disease. It does not replace specialist care.

A section of the disease sheet, with its source cited.

The information in the app guides you and does not replace professional judgement.

Epidemiological data
The epidemiological data of each rare disease, with Orphanet data.
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Nosological definition
The nosological definition of each rare disease, with Orphanet data.
- PRO
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Natural history
The natural history of each rare disease, with Orphanet data.
- PRO
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Rare diseases
Rare disease sheets with Orphanet data.
Find by signs and symptoms
Mark signs and symptoms and see which rare diseases describe them.
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ORPHA nomenclature
The ORPHA nomenclature of each rare disease, with Orphanet data.
- PRO
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