Orphanet is a comprehensive information service for rare diseases (RDs) provided by Inserm that collects, integrates, and disseminates expert-reviewed information and data on RDs. It aims to provide knowledge on RDs for healthcare professionals, patients, and researchers. Orphanet classifies over 7,000 RDs using its own nomenclature and ontology and provides information on each disease such as associated genes, symptoms, diagnostic criteria, and centers of expertise. It has over 400,000 registered users and aims to be a common language and centralized source of information across fields involved in RDs.

1. Orphanet
a comprehensive information
service for RD
Inserm, US14
Ana Rath, Marc Hanauer
ana.rath@inserm.fr

2. www.orpha.net
Objectives
• Have an overall knowledge on what Orphanet
is
• How to access Orphanet tutorials
• Know how to search by disease, by gene
• Know how to find a centre of expertise, a
patient organisation, information on research
and drugs
• Know how to find a collection of texts for a
given disease

3. www.orpha.net
The RD pyramid
Awareness
Knowledge
Awareness
Knowledge
Diagnostic suspicion?
Knowledge
Diagnostic suspicion
Diagnosis
Expertise
Diagnostic suspicion
Means to diagnose: NGS…
Research
Information
Assistance to diagnosis
Find an expert
Phenotype-Genotype
…
Integrated ata for research

4. www.orpha.net
What is Orphanet?
• Orphanet is a knowledge base both for healthcare and for
research.
• Orphanet collects, integrates, produces and disseminates
added-value information and data in the field of rare
diseases.
– expert-reviewed,
– manually curated and
– integrated to other resources.
• Orphanet is the reference for the nomenclature and
classification of rare diseases (the only specific resource) and
has a normative role in this domain.

5. www.orpha.net

6. www.orpha.net
Give a name to each disease : ORPHA nomenclature
www.orphadata.org

7. www.orpha.net
Orphanet European knowledge base for RD

8. www.orpha.net
Providing information
Providing data
Massive agregated data in a computer-friendly format
International, multilingual website
Intended to a multi-stakeholders audience
0
50000
100000
150000
200000
250000
2012 2013 2014 2015 2016

9. www.orpha.net

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The Orphanet Network
41 countries

11. www.orpha.net
Orphanet users
11US14-Orphanet 7 mars 2018
Health
professional 48%
Patient/ family/
patient
organisation 22%
Research 3%
Industry 2%
Health care
manager / policy
maker 1%
Education/
communication2
%
Student 18%
Other 4%
Enquête 2018; n = 5131

12. www.orpha.net
Orphanet provides information and data to a global audience
Orphanet
Orphadata

13. www.orpha.net
A common language across fields
Orphanet central
nomenclature
Research
Registries/Cohorts
Care
Health Information
System (EHRs)
HGNC
OMIM
UniProt
Reactome
Ensembl
Genatlas
IUPHAR
OMIM
ICD10/11
UMLS
MedDRA
Genes
DisabilitiesPhenotypes
SNOMED
Terminologies
OD
ODrugs

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Different applications for different users
Orphanet
database
orpha.net
Orphanet
Report Series
Ontologies
orphadata.org

15. www.orpha.net
Provide scientific and political RD news

16. www.orpha.net
Give timely emergency recommendations
37000
67000
200000
340000
390000
414000
405200
2010
2011
2012
2013
2014
2015
2016

17. 31/05/2017 17
Orphanet Disabilities
Provide information to health-social sector

18. In French only

19. www.orpha.net
Tutorials

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DEMO
Orphanet at the service of healthcare and research