Rare diseases

Rare disease sheets with ORPHA nomenclature, for professionals, patients and families.

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's included

Each function has its own page: what it does, who it is for and what you see in the app.

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

Source: Orphanet / Orphadata (CC BY 4.0)