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Registries and Biobanks
AUSTRIA
TIROL
INNSBRUCK
Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck
BELGIUM
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
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
CRRD: Central Registry of Rare Diseases
Sciensano
Health Services Research - Rare Diseases
ESTONIA
Tartu
TARTU
Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre
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)
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
ITALY
LAZIO
ROMA
RNMR: Italian National Rare Diseases Registry
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
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
ITALY
TOSCANA
PISA
ERN [ReCONNET] - TogethERN ReCONNET: a European Registry Infrastructure for data harmonization in rare and complex connective tissue and musculoskeletal diseases
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
ERN ReCONNET coordinating center
ITALY
TOSCANA
PISA
Tuscan Registry of Rare Diseases
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio
ITALY
VENETO
PADOVA
Rare Diseases Registry - Veneto Region
Azienda Ospedaliera di Padova
Coordinamento Malattie Rare Regione del Veneto
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
NORWAY
Østlandet
OSLO
Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser
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
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
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
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
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
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)
Public Health England (PHE)
NCARDRS
UNITED STATES
South Dakota
SIOUX FALLS
CORDS Registry: Coordination of Rare Diseases at Sanford Registry
Sanford Research
Standford Research
AUSTRIA
STEIERMARK
GRAZ
Skin cancer syndrome registry Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie
BELGIUM
ANTWERPEN
ANTWERPEN
Antwerp registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen
BELGIUM
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)
BELGIUM
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
DENMARK
Hovedstaden
COPENHAGEN
Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics
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
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
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
Brittany registry of congenital anomalies - contributes to the EUROCAT network
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCE
BRETAGNE
RENNES
ReMaBreizh: Registry of congenital malformations in Brittany
CHU de Rennes - Hôpital Pontchaillou
CHU Rennes
FRANCE
GRAND-EST
STRASBOURG
UMD CSB (ERCC6) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCE
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
FRANCE
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
FRANCE
ILE-DE-FRANCE
PARIS
REMAPAR- Paris registry of congenital anomalies - contributes to the EUROCAT network
APHP - HUPC - Site Cochin
Equipe EPOPé
FRANCE
ILE-DE-FRANCE
PARIS
RaDiCo-MARFAN: National cohort on Marfan syndrome and related diseases
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Service de cardiologie
FRANCE
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"
FRANCE
ILE-DE-FRANCE
PARIS
Registre de mutations d'UMD LMNA (Lamin A/C)
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANCE
OCCITANIE
MONTPELLIER
UMD TGFBR2 (transforming growth factor, beta receptor II) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCE
OCCITANIE
MONTPELLIER
UMD FBN1 (fibrillin 1) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
FRANCE
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
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 Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDPN)
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
FRANCE
PAYS DE LA LOIRE
ANGERS
PXE Biobank (Plasma, serum, DNA, skin fibroblasts)
CHU d'Angers
Service de dermatologie et vénéréologie
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
Bayern
MÜNCHEN
German PAM/MFM registry: Patient registry for hereditary protein aggregate myopathies (PAM) / myofibrillar myopathies (MFM)
Friedrich-Baur-Institut
PAM/MFM-Patientenregister
GERMANY
Hessen
FRANKFURT AM MAIN
Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Universitätsklinikum Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose
GERMANY
Hessen
FRANKFURT AM MAIN
KiRaFe: ChildrenRegister for Congenital Malformations
Universitätsklinikum Frankfurt
KiRaFe Studienleitung - Klinik für Kinderchirurgie und Kinderurologie
GERMANY
Hessen
MARBURG
German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie
GERMANY
Nordrhein-Westfalen
BONN
CURE Net: DNA biomaterial bank for the study of congenital uro-rectal marformations
Universitätsklinikum Bonn (AöR)
Institut für Humangenetik
GERMANY
Rheinland-Pfalz
MAINZ
Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell
GERMANY
Rheinland-Pfalz
MAINZ
CURE-Net : National registry for congenital uro-rectal malformations
Universitätsmedizin Mainz
CURE-Net Register
GERMANY
Sachsen-Anhalt
MAGDEBURG
NSEuroNet database: Online mutation registry for RASopathy genes
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik
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
Dél-Dunántúl
PECS
Marfan biobank
Clinical Center - University of Pécs
Department of Medical Genetics
IRELAND
County Cork
CORK
South of Ireland registry of congenital anomalies - contributes to the EUROCAT network
St. Finbarr's Hospital
Department of Public Health
IRELAND
County Dublin
DUBLIN
Dublin registry of congenital anomalies - contributes to the EUROCAT network
Health Services Executive
HSE Registry of Congenital Anomalies (East)
IRELAND
County Dublin
DUBLIN
National Cleft Database - contributes to EUROCAT
St James's Hospital
Orthodontic and Prosthodontic Unit
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. "San Pio" - P.O. "G. Rummo"
U.O.S.D. di Genetica Medica
ITALY
EMILIA ROMAGNA
BOLOGNA
Registry of Ehlers-Danlos syndrome - RED
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALY
EMILIA ROMAGNA
MODENA
Italian registry of patients and families affected by Pseudoxanthoma Elasticum
Università degli Studi di Modena e Reggio Emilia
LabGen - Laboratorio Sequenziamento Genomico
ITALY
LAZIO
ROMA
RIAT: Ataxia teleangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica
ITALY
LAZIO
ROMA
V-RIAT: variant Ataxia telangiectasia Italian registry
A.O. S. Andrea
Servizio 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
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia
NETHERLANDS
Gelderland
NIJMEGEN
ERN [GENTURIS] - GENTURIS registry: The Genetic Tumour Risk Syndromes Registry
Radboudumc - Radboud universitair medisch centrum
Sectie Klinische Genetica
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
Groningen
GRONINGEN
EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
NETHERLANDS
Groningen
GRONINGEN
International Dystrophic Epidermolysis Bullosa Patient Registry
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
NETHERLANDS
Groningen
GRONINGEN
COL7A1 Mutation Registry - part of the International Dystrophic Epidermolysis Bullosa Patient Registry
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica
NETHERLANDS
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NETHERLANDS
Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NETHERLANDS
Zuid-Holland
ROTTERDAM
ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen
NETHERLANDS
Zuid-Holland
ROTTERDAM
Biobank Obesity Center CGG (blood/serum/plasma/saliva/hair/DNA)
Erasmus MC - Erasmus Medisch Centrum
Centrum Gezond Gewicht, locatie Erasmus MC
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
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
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
SPAIN
Castilla - León
SALAMANCA
National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN
SPAIN
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
SPAIN
Madrid
MADRID
Registry of xeroderma pigmentoso of the Spanish Academy of Dermatology and Venereology (AEDV) integrated in the Rare Diseases Patient Registry ISCIII (RePER)
Academia Española de Dermatología y Venereología
SPAIN
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
SPAIN
Madrid
MADRID
Spanish Overgrowth Syndrome Registry
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular
SPAIN
Madrid
MADRID
Registry of xeroderma pigmentoso of the Spanish Academy of Dermatology and Venereology (AEDV) integrated in the Rare Diseases Patient Registry ISCIII (RePER)
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras
SPAIN
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
SWEDEN
Region Blekinge
LUND
PECARE: Swedish Registry of cataract in children
Registercentrum Syd
Regional Registry Centre, South Sweden
SWEDEN
Region Skåne
LUND
BLMbase: Mutation registry for Bloom Syndrome
Lunds Universitet
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
CTSCbase: Mutation registry for Papillon-Lefevre syndrome
Lunds Universitet
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lunds Universitet
Department of Experimental Medical Science
SWITZERLAND
Suisse Alémanique
BASEL
SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Kardiologische Klinik - Spezial-Sprechstunden
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-Mère-Enfant - Maternité
UNITED KINGDOM
Cambridgeshire
HINXTON
UK10K_RARE_SIR - The Severe Insulin Resistance (SIR) variant database
Wellcome Trust Sanger Institute
UK10K - Rare Genetic Variants in Health and Disease
UNITED KINGDOM
Greater London
LONDON
CRANE: The Cleft Registry and Audit Network
Royal College of Surgeons of England
Clinical Effectiveness Unit
UNITED KINGDOM
Hertfordshire
HARPENDEN
International A-T Registry - UK
AT Society
A-T Patient Registry
UNITED STATES
Utah
SALT LAKE CITY
International Pachyonychia Congenita Research Registry (IPCRR)
PC Project
Pachyonychia Congenita Project
AUSTRALIA
Queensland
SOUTH BRISBANE
Global Angelman Syndrome Registry
Centre for Children's Health Research
Developmental Paediatrics Group, Mater Research
CZECH REPUBLIC
Capital City Prague
PRAGUE 1
National Register of Congenital Malformations
Charles University in Prague
Institute of Biology and Medical Genetics
FRANCE
AUVERGNE-RHONE-ALPES
PRAGUE
Czech national Diamond-Blackfan Anemia Registry
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCE
GRAND-EST
STRASBOURG
Mutation registry of the Coffin-Lowry syndrome
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANCE
GRAND-EST
STRASBOURG
UMD CSA (ERCC8) mutations database
CHU de Strasbourg - Hôpital de Hautepierre
Service de Neuropédiatrie
FRANCE
GRAND-EST
STRASBOURG
RaDiCo-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
RaDiCo-SED-VASC: National cohort on vascular Ehlers-Danlos syndrome
AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
Service de génétique - CR des Maladies Vasculaires Rares
FRANCE
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
GERMANY
Baden-Württemberg
FREIBURG
National registry for Blackfan-Diamond disease
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
GERMANY
Baden-Württemberg
FREIBURG
Hilda biobank for children at the University Medical Center Freiburg - diagnostic and research on biomaterials of children and adolescents
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
GERMANY
Bayern
BAD STEBEN
The human TBX5 gene mutation database
Institut für angewandte Humangenetik und Onkogenetik
GERMANY
Niedersachsen
HANNOVER
German Fanconi anemia registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie
GERMANY
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
GERMANY
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
GERMANY
Nordrhein-Westfalen
MÜNSTER
Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie
IRELAND
County Dublin
DUBLIN
Epidermolysis Bullosa Registry Ireland
Charles Institute of Dermatology
National and International Skin Registry Solutions
IRELAND
County Dublin
DUBLIN
Irish Registry for homocystinurias and methylation defects - contributes to E-HOD
Children's Health Ireland @ Temple Street
National Centre for Inherited Metabolic Disorders
ITALY
CAMPANIA
NAPOLI
RIAF: Fanconi's Anemia Italian Registry
P.S.I. "Elena d'Aosta"
Laboratorio di Genetica Medica
ITALY
EMILIA ROMAGNA
BOLOGNA
Registry of Ollier disease and Maffucci syndrome - ROM
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALY
LOMBARDIA
BERGAMO
Angelman Syndrome Italian Registry (RISA)
ASST Papa Giovanni XXIII
Fondazione per la Ricerca dell'Ospedale di Bergamo
ITALY
LOMBARDIA
MILANO
SATURNE, Cardiovascular Research Biobank
Istituto di Ricerche Farmacologiche Mario Negri - IRCCS
Dipartimento di Ricerca Medicina cardiovascolare
ITALY
TOSCANA
FIRENZE
Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica
ITALY
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
ITALY
VENETO
VERONA
RI-SDS: Italian Registry of Shwachman Diamond Syndrome
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica
NETHERLANDS
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie
NETHERLANDS
Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence
NETHERLANDS
Noord-Holland
AMSTERDAM
E-HOD - European network and registry for homocystinurias and methylation defects (contributes to U-IMD)
Amsterdam UMC, locatie VUmc
Afdeling Interne Geneeskunde
NETHERLANDS
Zuid-Holland
LEIDEN
Biobank Bone Remodeling and Mineralisation Disorders (whole blood/plasma/serum/urine/DNA/bone)
LUMC - Leids Universitair Medisch Centrum
Afdeling Endocrinologie
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
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
SPAIN
Cataluña
BARCELONA
The Connexin-deafness mutations database
Centro de Regulación Genómica
Programa Genes y Enfermedad
SPAIN
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
SPAIN
Madrid
MADRID
Spanish Registry of Patients with Fanconi Anemia
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético
SWEDEN
Region Blekinge
LUND
MMCUP: Kvalitetsregister för MMC, annan neuralrörsdefekt och hydrocefalus
Registercentrum Syd
Regional Registry Centre, South Sweden
SWEDEN
Region Skåne
LUND
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lunds Universitet
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
IKBKGbase: Mutation registry for Nemo deficiency
Lunds Universitet
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
LIG4base: Mutation registry for LIG4 syndrome
Lunds Universitet
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
Lunds Universitet
Department of Experimental Medical Science
SWEDEN
Region Skåne
LUND
SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lunds Universitet
Department of Experimental Medical Science
SWEDEN
Region Västra Götaland
GÖTEBORG
SPOQ: Swedish registry of Pediatric orthopedics
Registercentrum Västra Götaland
Regional registry Centre, West Götaland
SWEDEN
Region Västra Götaland
GÖTEBORG
SWEAPS: Swedich registry of advanced child and adolecent surgery
Registercentrum Västra Götaland
Regional registry Centre, West Götaland
UNITED KINGDOM
Oxfordshire
OXFORD
UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine
UNITED STATES
New York
NEW YORK
IFAR: International Fanconi Anemia patient Registry
The Rockefeller University
Laboratory of Genome Maintenance
FRANCE
AUVERGNE-RHONE-ALPES
BRON
French registry of rare genetic metabolism disorders of steroids - contributing to the international RGSDC registry
CHU de Lyon HCL - GH Est
Service Biochimie et Biologie Moléculaire - Pathologies endocriniennes rénales, musculaires et mucoviscidose
FRANCE
CENTRE-VAL DE LOIRE
TOURS
NF-France: genotype/phenotype database on neurofibromatosis 1
CHRU de Tours - Hôpital Clocheville
Pôle Enfants - Neuropédiatrie et handicaps
FRANCE
ILE-DE-FRANCE
CRÉTEIL
NF-France: genotype/phenotype database on neurofibromatosis 1
Hôpitaux Universitaires Henri Mondor
Service de dermatologie
FRANCE
ILE-DE-FRANCE
LE CHESNAY
The Tissue Nonspecific Alkaline Phosphatase (ALPL) Gene Mutations Database
CH de Versailles - Hôpital André Mignot
Laboratoire de génétique constitutionnelle prénatale et postnatale
FRANCE
ILE-DE-FRANCE
PARIS
French certified patient registry for histiocytosis
AP-HP.Sorbonne Université - Hôpital d'Enfants Armand-Trousseau
Service d'Hématologie - Oncologie pédiatrique
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
FRANCE
ILE-DE-FRANCE
PARIS
French certified patient registry for histiocytosis
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Service de pneumologie
FRANCE
OCCITANIE
MONTPELLIER
UMD FBN2 (fibrillin 2) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire
GERMANY
Baden-Württemberg
HEIDELBERG
The Human Short Stature Gene Allelic Variant Database
Institut für Humangenetik am Universitätsklinikum Heidelberg
Abteilung Molekulare Humangenetik
GERMANY
Baden-Württemberg
TÜBINGEN
National MRKH patient registry
Universitäts-Frauenklinik Tübingen
Frauenklinik
GERMANY
Baden-Württemberg
ULM
International registry of patients suffering from osteopetrosis
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Sektion Knochenmark- und Stammzelltransplantation
GERMANY
Berlin
BERLIN
SSFA-database: Sequence-Structure-Function-Analysis of Glycoprotein Hormone Receptors
Leibniz-Institut für Molekulare Pharmakologie
Structural Bioinformatics and Protein Design
HUNGARY
Dél-Dunántúl
PECS
Neurofibromatosis type 1 biobank
Clinical Center - University of Pécs
Department of Medical Genetics
ITALY
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Registry of Neurofibromatosis
Institution: Information not provided - IT
ITALY
EMILIA ROMAGNA
BOLOGNA
Multiple Osteochondromas Registry - REM
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALY
EMILIA ROMAGNA
BOLOGNA
Biorepsitory of tissue and blood samples, lymphocytes and DNA from patients affected by solitary/multiple osteochondroma and peripheral chondrosarcoma
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALY
EMILIA ROMAGNA
BOLOGNA
Osteogenesis Imperfecta Registry - ROI
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALY
EMILIA ROMAGNA
BOLOGNA
BIOGEN: Diagnostic and research genetic Biobank
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
ITALY
LOMBARDIA
MILANO
International registry of bone fragility fractures in the young
IRCCS Istituto Auxologico Italiano - Ospedale San Michele
Centro Malattie del Metabolismo Osseo e Diabete
ITALY
VENETO
PADOVA
North-east Italy registry of neurofibromatosis
Azienda Ospedaliera di Padova
U.O.C. Genetica ed Epidemiologia Clinica
NETHERLANDS
Groningen
GRONINGEN
L1CAM Mutation Database
UMCG - Universitair Medisch Centrum Groningen
Laboratorium DNA Diagnostiek
NETHERLANDS
Zuid-Holland
ROTTERDAM
Biobank Frontotemporal Dementia Erasmus MC (DNA/RNA/plasma/serum/tissue)
Erasmus MC - Erasmus Medisch Centrum
Alzheimercentrum Erasmus MC
SPAIN
Asturias
OVIEDO
REGMEN: Spanish registry of multiple endocrine neoplasia, pheochromocitomas/paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición
SWEDEN
Region Skåne
LUND
SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia
Lunds Universitet
Department of Experimental Medical Science
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
FRANCE
ILE-DE-FRANCE
PARIS
EU-CHS:French central hypoventilation syndrome registry - contribute to the European CHS registry
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et neuroprotection des atteintes du cerveau en développement"
GERMANY
Hamburg
HAMBURG
Mucopolysaccharidosis type 1 (MPS I) Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
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
SPAIN
Asturias
OVIEDO
RenalTube: Database of patients with primary tubulopathies
Hospital Universitario Central de Asturias
Área de Gestión Clínica de Pediatría
SWEDEN
Region Stockholm
SOLNA
RMMS: Registry of Inherited Metabolic Diseases
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases
UNITED KINGDOM
Staffordshire
STOKE ON TRENT
EU-CHS: UK Registry for Central Hypoventilation Syndrome (CHS) - part of the European CHS Registry
University Hospital of North Staffordshire - Cheethams Children's Centre
UK Central Hypoventilation Syndrome Registry
BELGIUM
ANTWERPEN
EDEGEM (ANTWERPEN)
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - BE
Antwerp University Hospital - UZA
Kindernefrologie referentiecentrum
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - BE
Cliniques universitaires Saint-Luc - UCLouvain
Centre de référence en néphrologie pédiatrique
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - BE
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Unité d'endocrinologie - HUDERF
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - BE
Universitair Ziekenhuis Brussel
Reference centre for rare endocrine diseases (children section) - UZ Brussel
BELGIUM
OOST-VLAANDEREN
GENT
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - BE
Ghent University Hospital - UZ Gent
Pediatrisch Uro-Nefrologisch Centrum (PUNC)
BELGIUM
VLAAMS BRABANT
LEUVEN
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - BE
UZ Leuven - Campus Gasthuisberg
Referentiecentrum voor kindernefrologie
FRANCE
HAUTS-DE-FRANCE
LILLE
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - FR
CHRU de Lille - Hôpital Jeanne de Flandre
Service de Rhumatologie
FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - FR
APHP. Université Paris-Saclay, Hôpital Bicêtre
Service d'Endocrinologie Adulte
FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - FR
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
FRANCE
ILE-DE-FRANCE
PARIS
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - FR
AP-HP.Centre - Université de Paris - Hôpital Cochin
Service de Rhumatologie A - Exploration du métabolisme phosphocalcique/EMPO
FRANCE
NOUVELLE AQUITAINE
BORDEAUX
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - FR
CHU de Bordeaux-GH Pellegrin
Unité de Néphrologie pédiatrique
FRANCE
OCCITANIE
MONTPELLIER
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - FR
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Equipe Maladies Génétiques de l'Enfant et de l'Adulte
FRANCE
OCCITANIE
TOULOUSE
XLH Registry: Registry for Patients With X-Linked Hypophosphatemia - FR
CHU de Toulouse - Hôpital des Enfants
Pédiatrie - Endocrinologie, génétique et gynécologie médicale - Consultation Pathologie osseuse et endocrinologie
GERMANY
Sachsen
LEIPZIG
German register for hereditary nephrolithiasis
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie
SWITZERLAND
Suisse Alémanique
BERN
Registre XLH: Registry for Patients With X-Linked Hypophosphatemia - CH
Universitätsspital Inselspital
Universitätsklinik für Nephrologie und Hypertonie
SWITZERLAND
Suisse Alémanique
ST. GALLEN
Registre XLH: Registry for Patients With X-Linked Hypophosphatemia - CH
Kantonsspital St. Gallen
Ostschweizer Zentrum für seltene Krankheiten
SWITZERLAND
Suisse Alémanique
ZÜRICH
Registre XLH: Registry for Patients With X-Linked Hypophosphatemia - CH
Klinik Hirslanden
Zentrum für Nephrologie und Dialyse
SWITZERLAND
Suisse Romande
GENÈVE
Registre XLH: Registry for Patients With X-Linked Hypophosphatemia - CH
Hôpitaux Universitaires de Genève HUG
Service des maladies osseuses
UNITED KINGDOM
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
UNITED KINGDOM
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
UNITED KINGDOM
West Midlands
BIRMINGHAM
MARS: The Morquio A registry Study
Birmingham Children's Hospital NHS Foundation Trust
Department of Clinical Inherited Metabolic Disorders
Networks of registries and biobanks
ITALY
LOMBARDIA
VARESE
EUROCAT: European surveillance of congenital anomalies
European Commission's Joint Research Centre in Ispra
European Commission's Joint Research Centre
GERMANY
Baden-Württemberg
FREIBURG
E-HOD - European network and registry for homocystinurias and methylation defects
Zentrum für Kinder- und Jugendmedizin Freiburg
Labor für Klinische Biochemie und Stoffwechsel
UNITED KINGDOM
West Midlands
BIRMINGHAM
EURO-WABB: An EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
ITALY
LIGURIA
GENOVA
EUROFEVER: PReS European network of registries for autoinflammatory diseases in childhood
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie
FRANCE
ILE-DE-FRANCE
PARIS
EU-CHS: European CHS registry
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et neuroprotection des atteintes du cerveau en développement"
UNITED STATES
New Jersey
PRINCETON