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Registos e biobancos
FRANCA
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
PAISES BAIXOS
Limburg
MAASTRICHT
Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
Maastricht UMC+
Afdeling Klinische Genetica
PAISES BAIXOS
Limburg
MAASTRICHT
Biobank Intellectual Disability and Multiple Congenital Anomalies (DNA)
Maastricht UMC+
Biobank Klinische Genetica Maastricht
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Fetal Aneuploidy Biobank (DNA/RNA/tissue)
Amsterdam UMC, locatie AMC
Sectie Klinische Anatomie en Embryologie
AUSTRIA
STEIERMARK
GRAZ
Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
CRRD: Central Registry of Rare Diseases
Sciensano
Health Services Research - Rare Diseases
ESPANHA
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
ESPANHA
Aragón
ZARAGOZA
Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad
Servicio de Evaluación y Acreditación Sanitaria
ESPANHA
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
ESPANHA
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
ESPANHA
Extremadura
MÉRIDA
Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología
ESPANHA
Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Atención Hospitalaria
ESPANHA
Madrid
MADRID
ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations
ISCIII - Instituto de Salud Carlos III
Unidad de Investigación sobre Anomalías Congénitas
ESPANHA
Madrid
MADRID
RePER: Rare Diseases Patient Registry
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
ESPANHA
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
ESPANHA
Navarra
PAMPLONA
RERNA: Population-based Rare Disease Registry of Navarre (Spain)
Instituto de Salud Pública y Laboral de Navarra
Observatorio de la Salud Comunitaria
ESPANHA
País Vasco
BARAKALDO
Basque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco
ESPANHA
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
ESTADOS UNIDOS
South Dakota
SIOUX FALLS
CORDS Registry: Coordination of Rare Diseases at Sanford Registry
Sanford Research
Standford Research
FRANCA
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)
ITALIA
LAZIO
ROMA
RNMR: Italian National Rare Diseases Registry
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
LAZIO
ROMA
National Registry of Congenital Malformations (RNMC)
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
TOSCANA
PISA
Tuscan Registry of Rare Diseases
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio
ITALIA
VENETO
PADOVA
Rare Diseases Registry - Veneto Region
Azienda Ospedaliera di Padova
Coordinamento Malattie Rare Regione del Veneto
PAISES BAIXOS
Gelderland
NIJMEGEN
AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
PAISES BAIXOS
Gelderland
NIJMEGEN
AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
SUICA
Suisse Alémanique
BERN
Swiss Rare Disease Registry (SRSK)
Institute of Social and Preventive Medicine (ISPM)
SUICA
Suisse Alémanique
ZÜRICH
Swiss Rare Disease Registry (SRSK)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
ALEMANHA
Bayern
BAD STEBEN
The human TBX5 gene mutation database
Institut für angewandte Humangenetik und Onkogenetik
ALEMANHA
Bayern
MÜNCHEN
MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
ALEMANHA
Niedersachsen
HANNOVER
German Fanconi anemia registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie
ALEMANHA
Nordrhein-Westfalen
MÜNSTER
Nephronophthisis registry for patients in germany, austria and switzerland
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche
ALEMANHA
Nordrhein-Westfalen
MÜNSTER
NEOCYST patient registry for childhood cystic kidney disease
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche
ALEMANHA
Nordrhein-Westfalen
MÜNSTER
Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie
ALEMANHA
Rheinland-Pfalz
MAINZ
Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
BELGICA
ANTWERPEN
ANTWERPEN
Antwerp registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EuRRECa: European Registries for Rare Endocrine Conditions - Belgian contribution (HUDERF)
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Unité d'endocrinologie - HUDERF
BELGICA
HAINAUT
GOSSELIES
Hainaut and Namur registry of congenital anomalies - contribution to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)
BELGICA
OOST-VLAANDEREN
GENT
I-DSD: International Disorders of Sex Development registry - BE - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team] - UZ Gent
DINAMARCA
Hovedstaden
COPENHAGEN
Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics
ESPANHA
Baleares
PALMA DE MALLORCA
RERIB: Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Consejería de Salud y Consumo
Servicio de Epidemiología
ESPANHA
Castilla - León
SALAMANCA
National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN
ESPANHA
Cataluña
BARCELONA
DNA repair biobank
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Servicio de análisis de fragilidad cromosómica
ESPANHA
Galicia
VIGO
EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes -ES
Universidade de Vigo
Departamento de Bioquímica, Genética e Inmunología
ESPANHA
Madrid
MADRID
Spanish Registry of Patients with Fanconi Anemia
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético
ESPANHA
Madrid
MADRID
SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Direccion General de Salud Publica
Subdirección General de Vigilancia en Salud Pública
ESPANHA
País Vasco
VITORIA-GASTEIZ
RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco. Departamento de Salud
Registro de anomalías congénitas del País Vasco
ESTADOS UNIDOS
New York
NEW YORK
IFAR: International Fanconi Anemia patient Registry
The Rockefeller University
Laboratory of Genome Maintenance
FINLANDIA
Finland
HELSINKI
Register of Congenital Malformations
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)
FRANCA
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
CEMC-Auvergne - Center for the Study of Congenital Malformations in Auvergne - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale
FRANCA
AUVERGNE-RHONE-ALPES
LYON
Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network
Registre des Malformations en Rhône Alpes
Registre des Malformations en Rhône Alpes REMERA
FRANCA
BRETAGNE
RENNES
Brittany registry of congenital anomalies - contributes to the EUROCAT network
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCA
BRETAGNE
RENNES
ReMaBreizh: Registry of congenital malformations in Brittany
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCA
GRAND-EST
STRASBOURG
Mutation registry of the Coffin-Lowry syndrome
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANCA
GRAND-EST
STRASBOURG
RaDiCo-COBBALT: National cohort on Bardet-Bield syndrome and Alström syndrome
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
RaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
FRANCA
ILE-DE-FRANCE
PARIS
RaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Endocrinologie Moléculaire et Pathologies d'empreinte
FRANCA
ILE-DE-FRANCE
PARIS
REMAPAR- Paris registry of congenital anomalies - contributes to the EUROCAT network
APHP - HUPC - Site Cochin
Equipe EPOPé
FRANCA
ILE-DE-FRANCE
PARIS
UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANCA
OCCITANIE
TOULOUSE
RaDiCo-AC-OEIL: National cohort on congenital defects of the eye : natural history, genetic determinisms and improved ocular and extra-ocular outcome prediction for better patient management
CHU de Toulouse - Hôpital Purpan
Service de génétique médicale
FRANCA
OUTRE-MER
FORT DE FRANCE
French West Indies registry of congenital anomalies - contributes to the EUROCAT network
CHU de Martinique - Maison de la Femme, de la Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDPN)
FRANCA
OUTRE-MER
SAINT-PIERRE
La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network
CHU de la Réunion - GH Sud Réunion - Saint-Pierre
Service de Génétique Médicale
FRANCA
PROVENCE-ALPES-COTE D'AZUR
NICE
French Disease Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributes to EURO-WABB
CHU de Nice - Hôpital l'Archet 2
Service de génétique
IRLANDA
County Cork
CORK
South of Ireland registry of congenital anomalies - contributes to the EUROCAT network
St. Finbarr's Hospital
Department of Public Health
IRLANDA
County Dublin
DUBLIN
Dublin registry of congenital anomalies - contributes to the EUROCAT network
Health Services Executive
HSE Registry of Congenital Anomalies (East)
IRLANDA
County Kilkenny
KILKENNY
South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network
Health Service Executive South SE
South East of Ireland registry of congenital anomalies
ITALIA
CAMPANIA
BENEVENTO
Campania registry of congenital anomalies - contributes to the EUROCAT network
A.O.R.N. "San Pio" - P.O. "G. Rummo"
U.O.S.D. di Genetica Medica
ITALIA
CAMPANIA
NAPOLI
RIAF: Fanconi's Anemia Italian Registry
P.S.I. "Elena d'Aosta"
Laboratorio di Genetica Medica
ITALIA
LIGURIA
GENOVA
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche
ITALIA
PUGLIA
SAN GIOVANNI ROTONDO
Genetic Biobank from patients with Williams-Beuren syndrome and other genomic disorders
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica
ITALIA
SICILIA
CATANIA
ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network
ASMAC
Associazione per la Prevenzione Sociale e per il Trattamento delle Malformazioni Congenite
ITALIA
TOSCANA
FIRENZE
Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica
ITALIA
TOSCANA
PISA
Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia
ITALIA
VENETO
PADOVA
Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributing to EURO-WABB
Azienda Ospedaliera di Padova
Laboratorio Endocrino Metabolico - Clinica Medica 3
ITALIA
VENETO
VERONA
RI-SDS: Italian Registry of Shwachman Diamond Syndrome
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica
PAISES BAIXOS
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
PAISES BAIXOS
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
PAISES BAIXOS
Groningen
GRONINGEN
EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen
POLONIA
Lodz
LODZ
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Pracownia Immunopatologii I Genetyki - Laboratory of Immunopathology and Genetics
POLONIA
Lodz
LODZ
Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB
Uniwersytecki Szpital Kliniczny nr 4 im. Marii Konopnickiej
Departament of Pediatrics, Oncology, Hematology and Diabetology
POLONIA
Poznan
POZNAN
PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej
PORTUGAL
SUL
LISBOA
RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia
REINO UNIDO
Cambridgeshire
HINXTON
UK10K_RARE_SIR - The Severe Insulin Resistance (SIR) variant database
Wellcome Trust Sanger Institute
UK10K - Rare Genetic Variants in Health and Disease
REINO UNIDO
Oxfordshire
OXFORD
UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine
REPUBLICA CHECA
Capital City Prague
PRAGUE 1
National Register of Congenital Malformations
Charles University in Prague
Institute of Biology and Medical Genetics
SUECIA
Region Skåne
LUND
SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lunds Universitet
Department of Experimental Medical Science
SUICA
Suisse Alémanique
BASEL
SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Kardiologische Klinik - Spezial-Sprechstunden
SUICA
Suisse Alémanique
BERN
Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)
SUICA
Suisse Romande
LAUSANNE
EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité
FRANCA
GRAND-EST
STRASBOURG
UMD CSA (ERCC8) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCA
GRAND-EST
STRASBOURG
UMD CSB (ERCC6) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
PARIS
OPALE: A patient registry for laminopathies and emerinopathies in France
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Génétique, Physiopathologie & approches thérapeutiques des maladies du muscle"
REINO UNIDO
Tyne & Wear
NEWCASTLE UPON TYNE
Global FKRP registry (Global Fukutin-Related Protein defects registry)
Institute of Genetic Medicine - International Centre for Life
Global FKRP Registry
REINO UNIDO
Tyne & Wear
NEWCASTLE UPON TYNE
Global FKRP registry (Global Fukutin-Related Protein defects registry)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
Redes de registos e biobancos
ITALIA
LOMBARDIA
VARESE
EUROCAT: European surveillance of congenital anomalies
European Commission's Joint Research Centre in Ispra
European Commission's Joint Research Centre
REINO UNIDO
West Midlands
BIRMINGHAM