Rare diseases

Nosological definition

The nosological definition of each rare disease, with Orphanet data.

Healthcare professional
Student
For me and my family

Alexander disease: preferred term, synonyms and ICD-10, ICD-11, OMIM and UMLS cross-references with the Orphanet source (CC BY 4.0)

Real capture from the appAlexander disease: preferred term, synonyms and ICD-10, ICD-11, OMIM and UMLS cross-references with the Orphanet source (CC BY 4.0)

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.

What it does

Shows the definition of the disease and its place in the classification.

Who it is for and when to use it

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

What you see in the app

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

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

Natural history
The natural history of each rare disease, with Orphanet data.
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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.
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Functional consequences
The functional consequences of each rare disease, with Orphanet data.
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Associated phenotypes
The associated phenotypes of each rare disease, with Orphanet data.
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