Orphanet
Rare disease information, orphan medicines, expert centres and related resources.
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Research a rare condition
Use the name and synonyms to locate the relevant record and specialist resources.
Check first: Discuss diagnosis and treatment with the care team rather than inferring from symptoms.
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Use a rare-disease identifier with its definition
Orphanet documents rare diseases and maintains a nomenclature using ORPHAcodes. Retain the code, name and entity definition when finding or sharing a record. A similar label or isolated symptom does not establish that the record describes an individual situation.
- Scope
- Rare-disease information and nomenclature.
- Identifier
- ORPHAcode assigned to a nomenclature entity.
- Context
- Read definition and classification level with the code.
Is a code found online a diagnosis?
No. Interpretation in an individual situation belongs with qualified professionals.
Why retain the code as well as the name?
It identifies the entity without relying only on naming or language variants.
Official documentation
Documentation consulted on .
Editorial selection, without website certification. Read our method.