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Funded by an IRDiRC member = 
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Registries and Biobanks
BULGARIA
South Central region
PLOVDIV
National registry of patients with mucopolysaccharidosis type II (MPS2) - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs
GERMANY
Hamburg
HAMBURG
Hunter Outcome Survey (HOS): patient registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
IRELAND
County Dublin
DUBLIN
Hunter Outcome Survey (HOS): patient registry
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders
SWEDEN
Region Stockholm
SOLNA
RMMS: Registry of Inherited Metabolic Diseases
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases
FRANCE
ILE-DE-FRANCE
PARIS
RaDiCo-MPS: National cohort on Mucopolysaccharidosis in the era of specific therapeutics
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Service de Neuropédiatrie - Unité de neuropédiatrie et pathologie du développement
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
CRRD: Central Registry of Rare Diseases
Sciensano
Health Services Research - Rare Diseases
FRANCE
ILE-DE-FRANCE
PARIS
French National Registry for Rare Diseases (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)
GERMANY
Niedersachsen
GÖTTINGEN
ESNEK - Rare paediatric neurological disease registry Germany
Universitätsmedizin Göttingen
Geschäftsstelle der ESNEK
ITALY
LAZIO
ROMA
RNMR: Italian National Rare Diseases Registry
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALY
TOSCANA
PISA
Tuscan Registry of Rare Diseases
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio
ITALY
TOSCANA
SIENA
Genetic Biobank of Siena
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica
ITALY
VENETO
PADOVA
Rare Diseases Registry - Veneto Region
Azienda Ospedaliera di Padova
Coordinamento Malattie Rare Regione del Veneto
NETHERLANDS
Noord-Holland
AMSTERDAM
Biobank Lysosomal Storage Diseases (plasma/serum/peripheral blood cells/fibroblasts/urine)
Amsterdam UMC
Afdeling Erfelijke Stofwisselingsziekten
SPAIN
Andalucía
SEVILLA
Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Subdirección Técnica Asesora de Gestión de la Información
SPAIN
Aragón
ZARAGOZA
Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad
Servicio de Evaluación y Acreditación Sanitaria
SPAIN
Cantabria
SANTANDER
Population registry of rare diseases and congenital anomalies of Cantabria (Spain)
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria
SPAIN
Comunidad Valenciana
VALENCIA
SIER-CV: Information System on rare diseases in Valencian Community (Spain)
Generalitat Valenciana. Conselleria de Sanitat Universal i Salut Pública
Servicio de Estudios Epidemiológicos y Vigilancia de Enfermedades No Transmisibles
SPAIN
Extremadura
MÉRIDA
Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología
SPAIN
Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Atención Hospitalaria
SPAIN
Madrid
MADRID
RePER: Rare Diseases Patient Registry
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
SPAIN
Murcia
MURCIA
SIERrm: Information System on rare diseases in the Region of Murcia (Spain)
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria
SPAIN
Navarra
PAMPLONA
RERNA: Population-based Rare Disease Registry of Navarre (Spain)
Instituto de Salud Pública y Laboral de Navarra
Observatorio de la Salud Comunitaria
SPAIN
País Vasco
BARAKALDO
Basque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco
SPAIN
País Vasco
VITORIA-GASTEIZ
Rare Diseases Registry of the Basque Country
Gobierno Vasco. Departamento de Salud
Registro de Enfermedades Raras de la Comunidad Autónoma de Euskadi
SWITZERLAND
Suisse Alémanique
BERN
Swiss Rare Disease Registry (SRSK)
Institute of Social and Preventive Medicine (ISPM)
SWITZERLAND
Suisse Alémanique
ZÜRICH
Swiss Rare Disease Registry (SRSK)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
UNITED STATES
South Dakota
SIOUX FALLS
CORDS Registry: Coordination of Rare Diseases at Sanford Registry
Sanford Research
Standford Research
AUSTRIA
TIROL
INNSBRUCK
Austrian registry for inborn errors of metabolism
Medizinische Universität Innsbruck
Pädiatrie I
AUSTRIA
TIROL
INNSBRUCK
Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck
BELGIUM
ANTWERPEN
ANTWERPEN
Collection of FRA12A carrier DNA samples
University of Antwerp - UA, Campus Drie Eiken
Medical Genetics Unit
ESTONIA
Tartu
TARTU
Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
RaDiCo-GenIDA: International social network for data collection on the natural history of rare monogenic forms of intellectual disabilities
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCE
ILE-DE-FRANCE
PARIS
ERN [ITHACA] - ILIAD Rare Diseases patient registry: an International Library of Intellectual disability and Anomalies of Development
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique
GERMANY
Baden-Württemberg
REUTLINGEN
RAMEDIS : Rare Metabolic Diseases Database
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin
GERMANY
Baden-Württemberg
REUTLINGEN
RAMEDIS : Rare Metabolic Diseases mutation Database
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin
ITALY
LIGURIA
GENOVA
Telethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
ITALY
LIGURIA
GENOVA
Genetic Biobank of the Human Genetics Laboratory (BGU-IGG)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O.C. Laboratorio di Genetica Umana
KOREA, REPUBLIC OF
KOREA, REPUBLIC OF
SEOUL
Korean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory
MOROCCO
Rabat
RABAT
Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale
NETHERLANDS
Limburg
MAASTRICHT
Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
Maastricht UMC+
Afdeling Klinische Genetica
NETHERLANDS
Limburg
MAASTRICHT
Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
Maastricht UMC+
Biobank Klinische Genetica Maastricht
NETHERLANDS
Utrecht
UTRECHT
DDRMD - Dutch Diagnosis Registration Metabolic Diseases
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Metabole Ziekten
NORWAY
Østlandet
OSLO
Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Pediatric Biobank for Research
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Biobanco Pediátrico para la Investigación
SPAIN
Comunidad Valenciana
VALENCIA
CIBERER Biobank (Biobank of rare diseases)
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica
SPAIN
Comunidad Valenciana
VALENCIA
CIBERER Biobank (Biobank of rare diseases)
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo
SPAIN
Madrid
MADRID
ERN [TRANSPLANT-CHILD] - PETER: PaEdiatric Transplantation European Registry
Hospital Universitario La Paz
Servicio de Hepatología infantil
SPAIN
Madrid
MADRID
BioNER: Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
UK10K RARE FIND - Familial Intellectual Disability variant database
Addenbrooke's Hospital
Familial Gastric Cancer - Addenbrookes
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)
Public Health England (PHE)
NCARDRS
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
UK10K RARE FIND - Familial Intellectual Disability variant database
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research
NETHERLANDS
Zuid-Holland
ROTTERDAM
ERN [CRANIO] - ERN CRANIO registry
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
AUSTRIA
STEIERMARK
GRAZ
Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen
ITALY
EMILIA ROMAGNA
BOLOGNA
Italian registry of skeletal dysplasia
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALY
LAZIO
ROMA
National Registry of Congenital Malformations (RNMC)
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
NETHERLANDS
Gelderland
NIJMEGEN
AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
NETHERLANDS
Gelderland
NIJMEGEN
AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
NETHERLANDS
Zuid-Holland
LEIDEN
ERN [BOND] - EuRR-Bone: European Registry for Rare Bone and Mineral Conditions
LUMC - Leids Universitair Medisch Centrum
Coordination center EuRR-Bone Registry
SPAIN
Madrid
MADRID
ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations
ISCIII - Instituto de Salud Carlos III
Unidad de Investigación sobre Anomalías Congénitas
Networks of registries and biobanks
MALTA
MALTA
MALTA
EuroBioBank: European Network of DNA, Cell and Tissue banks for rare diseases
Universita ta Malta
Molecular Genetics Laboratory
GERMANY
Baden-Württemberg
HEIDELBERG