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For information on a rare disease

Write the name of the disease (or only part of the name) in the box provided on the front page, then click on 'search'.

We do not answer questions relating to information on diseases, as all available information at our disposal is freely accessible on the web site.

If you cannot find the information you are searching for, please consult the alphabetical list of diseases, or try another approximate spelling. If you are still unable to find the information you require, please send us a message by email:
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For a research collaboration or a study

If you would like to obtain a substantial amount of information from the database for research work, a report or personal use: www.orphadata.org.

For a personal query

Orphanet cannot answer personal queries. You should contact a dedicated service.

Country
Organisation
By email
By phone
Australia
The Association of Genetic Support of Australasia: www.agsa-geneticsupport.org.au/
+61 2 9211 1462
Austria
Forum Seltene Krankheiten
http://www.forum-sk.at/
+43 (0)512 9003 70532
Belgium
RaDiOrg is the umbrella organisation for patient organisations concerning rare diseases.
http://radiorgnl.squarespace.com/
http://radiorgfr.squarespace.com/
+32 478 727 703
Bulgaria
ICRDOD (Information Center for Rare Diseases and Orphan Drugs): www.raredis.org
+359 (0)32 57 57 97
Canada
CORD (Canadian Organization for Rare Disorders): www.raredisorders.ca
+1-877 302 7273 (English speakers)
Canada
RQMO (Regroupement Québécois des Maladies Orphelines - Portail Info Maladies Rares Québec):
www.rqmo.org
+1-855 543 0550 (French speakers)
Denmark
Team Sjældne Handicap: www.csh.dk
+45 72 42 40 47
Germany
ACHSE (Allianz Chronischer Seltener Erkrankungen): www.achse-online.de
0049 (0) 30 3300708 21/-22
Korea
National Institute of Health rare incurable diseases center:
http://helpline.nih.go.kr/cdchelp/index.gst
043)719-8686, 8688
Finland
Harvinaiset-verkosto: www.harvinaiset.fi/english
France
Maladies Rares Info Services:
www.maladiesraresinfo.org
From France:
01 56 53 81 36
From abroad:
+33 156 538 136
Irland
Organization: National Rare Diseases Office Information Line:
www.rarediseases.ie
By phone: 1 800 24 0 365 in Ireland
+353 1 878 5065 from abroad
Italy
Istituto Superiore di Sanità: Centro Nazionale Malattie Rare: www.iss.it/cnmr/
+39 800 89 69 49
Latin America
GEISER (Grupo de Enlace, Investigacion y Soporte Enfermedades Raras)
(+54) (0261) 4291987
o 0800 333 3353
de Lunes a Viernes de 08:00 hs a 12:30 hs
Netherlands
033-3032110
Norway
NKSD – National Advisory Unit on Rare Disorders
NKSD - Nasjonal kompetansetjeneste for sjeldne diagnoser)
www.sjeldne-diagnoser.no/
+47 800 41710
Portugal
707 100 200
Romania
Centrul de informare pentru Boli Genetice Rare: www.apwromania.ro/index.php?act=cibgr
080 080 1111
Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)
Spain
Servicio de Información y Orientación de FEDER
+34 918 221 725
Sweden
The Swedish Information Centre for Rare Diseases: www.socialstyrelsen.se/en/rarediseases
The Swedish Information Centre for Rare Diseases: www.socialstyrelsen.se/en/rarediseases
+46-(0)31-786 5590
Switzerland
Helpline Info Maladies rares:
http://www.info-maladies-rares.ch/
+41 (0)848 314 372 (from Monday to Thursday – Open 9 am to 12 am and 2pm to 4pm)
Switzerland
Helpline Seltene Krankheiten:
http://www.kispi.uzh.ch/helpline-selten
+41 (0)44 266 35 35 (Tuesday 9 – 11 am and Thursday 14-16 pm)
Taiwan
Taiwan Foundation for Rare Disorders:
www.tfrd.org.tw/english/
UK
Contact-a-family : www.cafamily.org.uk
0 808 808 3555
UK
CLIMB (Metabolic Diseases, UK)
(+44) (0)800 652 3181
(Open 10am - 4pm GMT)
USA
NORD (National Organization for Rare Disorders): www.rarediseases.org
+1 (800) 999 6673
USA
Genetic and Rare Diseases Information Center (GARD):
www.rarediseases.info.nih.gov/GARD/ Default.aspx
Monday - Friday, 12:00 p.m. to 4:00 p.m. Eastern Time
(888) 205-2311 (Phone)
(888) 205-3223 (TTY)
(301) 251-4925 (International Telephone Access Number)

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For other purposes

  • For technical requests regarding connection:

  • Contact the information team to report content to modify:

  • Contact the communications team:
  • Contact the national Orphanet teams :
Orphanet Armenia Orphanet Germany Orphanet Poland
Orphanet Australia Orphanet Greece Orphanet Portugal
Orphanet Austria Orphanet Hungria Orphanet Quebec/Canada
Orphanet Belgium Orphanet Ireland Orphanet Romania
Orphanet Bulgaria Orphanet Israel Orphanet Serbia
Orphanet Croatia Orphanet Italia Orphanet Slovakia
Orphanet Cyprus Orphanet Latvia Orphanet Slovenia
Orphanet Czech Republic Orphanet Lebanon Orphanet Spain
Orphanet Denmark Orphanet Lithuania Orphanet Sweden
Orphanet Estonia Orphanet Luxembourg Orphanet Switzerland
Orphanet Finland Orphanet Morocco Orphanet Turkey
Orphanet France Orphanet Netherlands Orphanet United Kingdom
Orphanet Georgia Orphanet Norway

Contact the coordinating team

Orphanet / INSERM US14
Rare Disease Platform
96, rue Didot
75014 Paris, France

Phone: +33 (0)1.56.53.81.37

To locate our office in Paris, please consult the map.


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