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Registos e biobancos
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
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
FINLANDIA
Finland
HELSINKI
The Finnish Register of Visual Impairment, Näkövammarekisteri
Finnish Federation of the Visually Impaired
Näkövammaisten liitto ry
FRANCA
GRAND-EST
STRASBOURG
ERN [EYE] - REDgistry: An interoperable sustainable European Rare Eye Disease Registry
CHU de Strasbourg - Hôpital Civil
Centre des Affections Rares en Génétique Ophtalmologique - CARGO
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
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
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
Nordrhein-Westfalen
ESSEN
Retinoblastoma Genetics Website
Universitätsklinikum Essen
Institut für Humangenetik
FRANCA
GRAND-EST
VANDOEUVRE-LÈS-NANCY
RNTSE - National registry of children solid tumors
Faculté de médecine de Nancy
Registre national des tumeurs solides de l'enfant
ITALIA
TOSCANA
SIENA
Genetic Biobank of Siena
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica
ITALIA
TOSCANA
SIENA
Italian retinoblastoma registry
Università degli Studi di Siena
Dipartimento di Pediatria, Ostetricia e Medicina della Riproduzione
ALEMANHA
Baden-Württemberg
TÜBINGEN
Blue cone monochromatism - Patient registry
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
ITALIA
LAZIO
ROMA
Blue cone monochromatism patient registry (BCM Registry)
Fondazione Famiglie Monocromatismo dei Coni blu - Sede italiana
Fondazione Famiglie Monocromatismo dei Coni blu - Sede italiana di "BCM Families Foundation"
PAISES BAIXOS
Gelderland
NIJMEGEN
RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
PAISES BAIXOS
Zuid-Holland
ROTTERDAM
RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Oogheelkunde
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
ITALIA
LIGURIA
GENOVA
Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche
ALEMANHA
Nordrhein-Westfalen
BONN
Patient registry for retinal degeneration PRO RETINA e.V
Pro Retina Deutschland e.V.
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
German Ocular Pemphigoid Registry
Universitätsklinikum Düsseldorf
Klinik für Augenheilkunde
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
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)
ESPANHA
Madrid
MADRID
Spanish patient registry of hereditary retinal dystrophy
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
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
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
ILE-DE-FRANCE
PARIS
REMAPAR- Paris registry of congenital anomalies - contributes to the EUROCAT network
APHP - HUPC - Site Cochin
Equipe EPOPé
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
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
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
PISA
Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia
PAISES BAIXOS
Groningen
GRONINGEN
EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
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
SUICA
Suisse Romande
LAUSANNE
EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité
ALEMANHA
Mecklenburg-Vorpommern
GREIFSWALD
German ROP (retinopathy of prematurity) Registry - contributes to the EU-ROP registry
Universitätsmedizin Greifswald
Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Mecklenburg-Vorpommern
ROSTOCK
ALEMANHA
Nordrhein-Westfalen
KÖLN
German ROP (retinopathy of prematurity) Registry - contributes to the EU-ROP registry
Universitätsklinikum Köln
Zentrum für Augenheilkunde
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
ESTADOS UNIDOS
California
BERKELEY
National Birdshot Chorioretinopathy.
University Of California Berkeley
Ophthalmology
FRANCA
GRAND-EST
REIMS
Biobank in chorioretinopathy, birdshot type
CHU de Reims - Hôpital Robert Debré
Laboratoire d'immunologie
FRANCA
GRAND-EST
STRASBOURG
RaDiCo-RETICO: National cohort on inherited retinal dystrophies
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale
PAISES BAIXOS
Zuid-Holland
LEIDEN
LUMC Biobank RVCL-S (DNA/peripheral blood cells/plasma/serum/tissue/CSF)
LUMC - Leids Universitair Medisch Centrum
Afdeling Neurologie
SUECIA
Region Blekinge
LUND
PECARE: Swedish Registry of cataract in children
Registercentrum Syd
Regional Registry Centre, South Sweden
SUECIA
Region Uppsala
UPPSALA
SWEDROP: Swedish Registry for Retinopathy of Prematurity
Akademiska Sjukhuset
Uppsala University Hospital
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
Neuromyelitis optica patient registry
Universitätsklinikum Düsseldorf
Neuromyelitis optica Studiengruppe (NEMOS)
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
ESPANHA
Cataluña
BARCELONA
The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad
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
FRANCA
AUVERGNE-RHONE-ALPES
BRON
EDMUS - NOMADMUS: French biobank of Devic's neuromyelitis optica and related neurological disorders
CHU de Lyon HCL - GH Est
Centre de Ressources Biologiques - NeuroBioTec
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
OCCITANIE
MONTPELLIER
Registry of hereditary Haemochromatosis of the Languedoc Roussillon (including rare forms non-HFE hemochromatosis)
CHU de Montpellier - Hôpital Saint-Eloi
Département d'Hématologie biologique
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
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
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
PORTUGAL
NORTE
PORTO
MitoBreak: Base de dados de pontos de quebra no DNA mitocondrial
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research
SUECIA
Region Stockholm
SOLNA
Swedish Leber hereditary optic neuropathy registry
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases
SUICA
Suisse Alémanique
BERN
Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
National Registry for Mycotic keratitis
Universitätsklinikum Düsseldorf
Klinik für Augenheilkunde
ALEMANHA
Saarland
HOMBURG
German Acanthamoeba keratitis registry
Universitätsklinikum des Saarlandes
Klinik für Augenheilkunde
ALEMANHA
Thüringen
JENA
National Registry for Mycotic keratitis
Hans-Knöll-Institut (HKI)
Nationale Referenzzentrum für Invasive Pilzinfektionen
FRANCA
ILE-DE-FRANCE
PARIS
French cohort creation in retinitis pigmentosa
Hôpital Necker-Enfants Malades
Service d'Ophtalmologie enfants et adultes
FRANCA
OCCITANIE
MONTPELLIER
French cohort of Usher syndrome
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCA
OCCITANIE
MONTPELLIER
USHbases (Usher syndrome) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCA
PAYS DE LA LOIRE
ANGERS
eOPA1: mutations registry of OPA1 gene (Optic atrophy 1)
CHU d'Angers
Plateau de Biologie et Médecine Moléculaire
ITALIA
TOSCANA
FIRENZE
Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica
SUECIA
Region Örebro län
ÖREBRO
SVUSH: Swedish registry on Usher syndrome
Örebro Universitetssjukhus
Örebro University Hospital
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
ALEMANHA
Mecklenburg-Vorpommern
GREIFSWALD
EU-ROP: European Disease Registry on Retinopathy of Prematurity (ROP)
Universitätsmedizin Greifswald
Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Mecklenburg-Vorpommern
GREIFSWALD
EU-ROP- European Retinopathy of prematurity (ROP) registry
Universitätsmedizin Greifswald
Klinik und Poliklinik für Augenheilkunde
REINO UNIDO
West Midlands
BIRMINGHAM