Orphanet: Search simple
x

Search for a registry/biobank

* (*) mandatory field

86 Result(s)

Sort by

Funded by an IRDiRC member = Member of a ERN =

Registries and Biobanks

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Registre Central des Maladies Rares / Centraal Register Zeldzame Ziekten
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)

SPAIN

Andalucía
SEVILLA

Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento

SPAIN

Aragón
ZARAGOZA

Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria

SPAIN

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología

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)
FISABIO - Salud Pública
Área de Enfermedades Raras

SPAIN

Extremadura
MÉRIDA

Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeńo de Salud
Subdirector de Epidemiología

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial

SPAIN

Madrid
MADRID

SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud

SPAIN

Madrid
MADRID

ReeR: Spanish National Registry of Rare Diseases
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

Population registry of rare diseases of Navarra (Spain)
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles

SWITZERLAND

Suisse Alémanique
BERN

Swiss Rare Disease Registry
Institute of Social and Preventive Medicine (ISPM)

FRANCE

ILE-DE-FRANCE
CLICHY

French patient registry affected by genetic deafness in France
CHU Paris Nord-Val de Seine - Hôpital Beaujon
Service d'oto-rhino-laryngologie

UNITED KINGDOM

Greater London
LONDON

BPOLD: British Paediatric Orphan Lung Disease Registry
GOSH NHS Foundatin Trust
Respiratory Medicine Group

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Cadherin-related Protein 23 Gene (CDH23)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

SPAIN

Cataluńa
BARCELONA

The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad

AUSTRIA

STEIERMARK
GRAZ

Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen

BELGIUM

ANTWERPEN
ANTWERPEN

Antwerpen registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

EUNEFRON: registry of the European network for the study of orphan nephropathies
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology

BELGIUM

HAINAUT
GOSSELIES

Hainaut and Namur registry of congenital anomalies - contributes to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)

DENMARK

Hovedstaden
COPENHAGEN

Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics

DENMARK

Syddanmark
ODENSE

Funen county registry of congenital anomalies - contributes to the EUROCAT network
University of Southern Denmark
Epidemiology department

FINLAND

Finland
HELSINKI

Register of Congenital Malformations, Epämuodostumarekisteri
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Auvergne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale

FRANCE

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

FRANCE

BRETAGNE
RENNES

FRANCE

GRAND-EST
STRASBOURG

Funded by an IRDiRC memberRaDiCo-COBBALT: National cohort on Bardet-Bield syndrome and Alström syndrome
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

OCCITANIE
MONTPELLIER

French cohort of Usher syndrome
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCE

OCCITANIE
MONTPELLIER

USHbases (Usher syndrome) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCE

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 Mčre et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDP)

FRANCE

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

GERMANY

Bayern
MÜNCHEN

MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Harmonin Gene (USH1C)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Norrie Disease Gene (NDP)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Usher Syndrome Type 3 Gene (CLRN1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Myosin VIIa Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Protocadherin 15 Gene (PCDH15)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Second Mitochondrial Serine tRNA Gene (MTTS2)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: Tyrosinase Gene (TYR)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Hessen
GIEßEN

Mutation Database Retina International: USH2a Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANY

Niedersachsen
GÖTTINGEN

European Alport registry
Universitätsmedizin Göttingen
ZSEG - Zentrum für seltene Erkrankungen Göttingen

GERMANY

Rheinland-Pfalz
MAINZ

Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell

GERMANY

Sachsen-Anhalt
MAGDEBURG

Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

HUNGARY

Közép-Magyarország
BUDAPEST

Nemzeti NF Regiszter
Nemzeti NF Regiszter
NF Magyarorszag

IRELAND

County Cork
CORK

IRELAND

County Dublin
DUBLIN

Dublin registry of congenital anomalies - contributes to the EUROCAT network
Dr. Steeven's Hospital
HSE Registry of Congenital Anomalies (East)

IRELAND

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

ITALY

CAMPANIA
BENEVENTO

Campania registry of congenital anomalies - contributes to the EUROCAT network
A.O.R.N. "Gaetano Rummo"
U.O.C. di Genetica Medica

ITALY

LIGURIA
GENOVA

Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

ITALY

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

ITALY

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

ITALY

TOSCANA
PISA

Tuscan Registry of Congenital Anomalies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unitŕ di Ricerca Epidemiologia Ambientale e Registri di Patologia

ITALY

TOSCANA
SIENA

Italian registry of Alport syndrome
Azienda Ospedaliera Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALY

VENETO
PADOVA

ITALY

VENETO
PADOVA

North-east Italy registry of neurofibromatosis
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica

ITALY

VENETO
PADOVA

North-East of Italy registry of congenital anomalies - contributes to the EUROCAT network
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica

MALTA

MALTA
G'MANGIA

MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT
Ministry for Health
Directorate of Health Information and Research

NETHERLANDS

Gelderland
NIJMEGEN

RD5000 database: Dutch Registry for Inherited Retinal Dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

NETHERLANDS

Groningen
GRONINGEN

EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

POLAND

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

POLAND

Poznan
POZNAN

PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej

PORTUGAL

NORTE
PORTO

MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research

PORTUGAL

SUL
LISBOA

RENAC - Registo Nacional de Anomalias Congénitas (contribui para a rede EUROCAT)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia

SPAIN

Castilla - León
SALAMANCA

National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Genética molecular humana

SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Genética molecular humana

SPAIN

País Vasco
VITORIA-GASTEIZ

RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco - Departamento de Sanidad y Consumo
Gobierno Vasco. Departamento de Salud

SWITZERLAND

Suisse Alémanique
BASEL

SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department

SWITZERLAND

Suisse Alémanique
BERN

Swiss Paediatric Renal Registry
Institute of Social and Preventive Medicine (ISPM)

SWITZERLAND

Suisse Romande
LAUSANNE

EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mčre-Enfant - Maternité

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

The Alström Syndrome UK (ASUK) Tissue Bank
Addenbrooke's Hospital
University of Cambridge Metabolic Research Laboratories

UNITED KINGDOM

West Midlands
BIRMINGHAM

FRANCE

GRAND-EST
STRASBOURG

UMD CSA (ERCC8) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie

FRANCE

GRAND-EST
STRASBOURG

UMD CSB (ERCC6) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie

SPAIN

Cataluńa
BELLATERRA

DNA repair biobank
Universitat Autňnoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA

Networks of registries and biobanks

SPAIN

Madrid
MADRID

SpainRDR: Spanish Rare Disease Registries Research Network (patient registries)
  • ISCIII - Instituto de Salud Carlos III
  • Instituto de Investigación de Enfermedades Raras
  • UNITED KINGDOM

    Antrim and Newtownabbey
    NEWTOWNABBEY

    UNITED KINGDOM

    West Midlands
    BIRMINGHAM