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Gefinancierd door een IRDiRC-lid = Member of a ERN =

Registers en biobanken

BELGIË

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases

DENEMARKEN

Sjćlland
COPENHAGEN

Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine

ESTLAND

Tartu
TARTU

Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

FRANKRIJK

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)

ITALIË

LIGURIA
GENOVA

Cell line and DNA Biobank from patients affected by genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIË

LIGURIA
GENOVA

Gefinancierd door een IRDiRC-lidTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIË

TOSCANA
PISA

MAROKKO

Rabat
RABAT

Moroccan National Genetic Database
Institut National d'Hygične
Département de génétique médicale

NOORWEGEN

Řstlandet
OSLO

Norwegian registry on rare disorders
Oslo University Hospital, Ullevaal
Norsk register for sjeldne diagnoser

OOSTENRIJK

TIROL
INNSBRUCK

Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

SPANJE

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

SPANJE

Aragón
ZARAGOZA

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

SPANJE

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

SPANJE

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

SPANJE

Comunidad Valenciana
VALENCIA

SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras

SPANJE

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

SPANJE

Extremadura
MÉRIDA

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

SPANJE

Galicia
SANTIAGO DE COMPOSTELA

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

SPANJE

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

SPANJE

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

SPANJE

Madrid
MADRID

ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

SPANJE

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

SPANJE

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

SPANJE

País Vasco
BARAKALDO

Gefinancierd door een IRDiRC-lidBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

ZUID-KOREA

KOREA, REPUBLIC OF
SEOUL

Gefinancierd door een IRDiRC-lidKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

BELGIË

ANTWERPEN
ANTWERPEN

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

BELGIË

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)

DENEMARKEN

Hovedstaden
COPENHAGEN

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

DENEMARKEN

Syddanmark
ODENSE

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

DUITSLAND

Baden-Württemberg
TÜBINGEN

Gefinancierd door een IRDiRC-lidFACE - National registry for Robin sequence
Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
Zentrum für Seltene Erkrankungen (ZSE) Tübingen

DUITSLAND

Bayern
MÜNCHEN

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

DUITSLAND

Hessen
FRANKFURT AM MAIN

Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

DUITSLAND

Hessen
GIEßEN

Mutation Database Retina International: Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DUITSLAND

Hessen
MARBURG

German national case collection of familial pancreatic cancer
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie

DUITSLAND

Nordrhein-Westfalen
BONN

CURE Net: DNA biomaterial bank for the study of congenital uro-rectal marformations
Universitätsklinikum Bonn (AöR)
Institut für Humangenetik

DUITSLAND

Rheinland-Pfalz
MAINZ

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

DUITSLAND

Rheinland-Pfalz
MAINZ

CURE-Net : National registry for congenital uro-rectal malformations
Universitätsmedizin Mainz
CURE-Net Register

DUITSLAND

Sachsen-Anhalt
MAGDEBURG

Gefinancierd door een IRDiRC-lidNSEuroNet database: Online mutation registry for RASopathy genes
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik

DUITSLAND

Sachsen-Anhalt
MAGDEBURG

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

FINLAND

Finland
HELSINKI

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

FRANKRIJK

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

French registry of Kabuki syndrome
Institution: Information not provided - FR

FRANKRIJK

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

FRANKRIJK

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

FRANKRIJK

BRETAGNE
RENNES

FRANKRIJK

GRAND-EST
STRASBOURG

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

FRANKRIJK

ILE-DE-FRANCE
LE KREMLIN-BICĘTRE

Gefinancierd door een IRDiRC-lidRaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
Hôpital Bicętre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabčte de l'Enfant

FRANKRIJK

ILE-DE-FRANCE
PARIS

FRANKRIJK

ILE-DE-FRANCE
PARIS

RaDiCo-MARFAN: National cohort on Marfan syndrome and apparent diseases
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Service de cardiologie

FRANKRIJK

ILE-DE-FRANCE
PARIS

CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Cancer et génome: bioinformatique, biostatistiques et épidémiologie d'un systčme complexe

FRANKRIJK

ILE-DE-FRANCE
PARIS

UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpętričre
Centre de Recherche en Myologie

FRANKRIJK

OCCITANIE
MONTPELLIER

UMD TGFBR2 (transforming growth factor, beta receptor II) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANKRIJK

OCCITANIE
MONTPELLIER

UMD FBN1 (fibrillin 1) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANKRIJK

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)

FRANKRIJK

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

FRANKRIJK

PAYS DE LA LOIRE
ANGERS

PXE Biobank (Plasma, serum, DNA, skin fibroblasts)
CHU d'Angers
Service de dermatologie et vénéréologie

HONGARIJE

Dél-Dunántúl
PECS

Marfan biobank
Clinical Center - University of Pécs
Department of Medical Genetics

IERLAND

County Cork
CORK

IERLAND

County Dublin
DUBLIN

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

IERLAND

County Dublin
DUBLIN

National Cleft Database - contributes to EUROCAT
St James's Hospital
Craniofacial Orthodontic Service

IERLAND

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

ITALIË

CAMPANIA
BENEVENTO

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

ITALIË

EMILIA ROMAGNA
MODENA

Italian registry of patients and families affected by Pseudoxanthoma Elasticum
Universitŕ degli Studi di Modena e Reggio Emilia
LabGen - Laboratorio Sequenziamento Genomico

ITALIË

LAZIO
ROMA

RIAT: Ataxia teleangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica

ITALIË

LAZIO
ROMA

V-RIAT: variant Ataxia telangiectasia Italian registry
A.O. S. Andrea
Servizio di Genetica Medica

ITALIË

LIGURIA
GENOVA

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

ITALIË

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

ITALIË

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

ITALIË

TOSCANA
PISA

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

ITALIË

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

NEDERLAND

Gelderland
NIJMEGEN

AGORA: biobank (DNA) voor aangeboren afwijkingen en kinderkanker
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

NEDERLAND

Groningen
GRONINGEN

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

NEDERLAND

Groningen
GRONINGEN

International Dystrophic Epidermolysis Bullosa Patient Registry
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

NEDERLAND

Groningen
GRONINGEN

NEDERLAND

Noord-Holland
AMSTERDAM

Biobank CEEx studie (fibroblasten)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

NEDERLAND

Zuid-Holland
ROTTERDAM

ENCORE Biobank voor Neuro-Cognitieve Ontwikkelingsstoornissen (bloed/speeksel/huidbiopten)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen

NEDERLAND

Zuid-Holland
ROTTERDAM

Biobank Centrum Gezond Gewicht (bloed/serum/plasma/speeksel/haar/DNA)
Erasmus MC - Erasmus Medisch Centrum
Centrum Gezond Gewicht, locatie Erasmus MC

OOSTENRIJK

STEIERMARK
GRAZ

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

OOSTENRIJK

STEIERMARK
GRAZ

Skin cancer syndrome registry Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie

OOSTENRIJK

WIEN
WIEN

EBCare Registry
DEBRA International

POLEN

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

SPANJE

Castilla - León
SALAMANCA

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

SPANJE

Cataluńa
BELLATERRA

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

SPANJE

Madrid
MADRID

Spanish Academy of Dermatology and Venereology (AEDV) / Rare Diseases Registry ISCIII: Registry of xeroderma pigmentoso
Academia Espańola de Dermatología y Venereología
Unidad de investigación de la Fundación Academia Espańola de Dermatología y Venereología

SPANJE

Madrid
MADRID

Spanish Overgrowth Syndrome Registry
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular

SPANJE

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

USA

Utah
SALT LAKE CITY

International Pachyonychia Congenita Research Registry (IPCRR)
PC Project
Pachyonychia Congenita Project

VERENIGD KONINKRIJK

Cambridgeshire
HINXTON

UK10K_RARE_SIR - The Severe Insulin Resistance (SIR) variant database
Wellcome Trust Sanger Institute
UK10K - Rare Genetic Variants in Health and Disease

VERENIGD KONINKRIJK

Greater London
LONDON

Family History of Bowel Cancer Registry
Department of Gastroenterology
West Middlesex University Hospital

VERENIGD KONINKRIJK

Greater London
LONDON

CRANE: Cleft Registry and Audit Network - England, Wales & Northern Ireland
Royal College of Surgeons of England
Clinical Effectiveness Unit

VERENIGD KONINKRIJK

Lothian
EDINBURGH

Hereditary Hemorrhagic Telangiectasia (HHT) Mutation Database: ACVRL1 and ENG
Western General Hospital
Molecular Genetics Laboratory (part of the South East Scotland Genetics Service)

VERENIGD KONINKRIJK

Nottinghamshire
NOTTINGHAM

Ataxia-Telangiectasia International Registry (A-T Society)
William Whitehouse
Pediatric Neurology Department

VERENIGD KONINKRIJK

Tyne & Wear
NEWCASTLE UPON TYNE

International A-T Registry
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

ZWEDEN

Region Skĺne
LUND

BLMbase: Mutation registry for Bloom Syndrome
Lund University
Department of Experimental Medical Science

ZWEDEN

Region Skĺne
LUND

CTSCbase: Mutation registry for Papillon-Lefevre syndrome
Lund University
Department of Experimental Medical Science

ZWEDEN

Region Skĺne
LUND

MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lund University
Department of Experimental Medical Science

ZWITSERLAND

Suisse Alémanique
BASEL

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

ZWITSERLAND

Suisse Alémanique
BERN

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

ZWITSERLAND

Suisse Romande
LAUSANNE

Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries)
Centre Hospitalier Universitaire Vaudois CHUV
Swiss registries for Interstitial and Orphan Lung Diseases

ZWITSERLAND

Suisse Romande
LAUSANNE

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

CANADA

Ontario
BRAMPTON

Fragile X Patient Registry
FXRFC
Fragile X Research Foundation of Canada

DUITSLAND

Baden-Württemberg
FREIBURG

National registry for Blackfan-Diamond disease
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

DUITSLAND

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

DUITSLAND

Bayern
BAD STEBEN

The human TBX5 gene mutation database
Institut für angewandte Humangenetik und Onkogenetik

DUITSLAND

Hamburg
HAMBURG

Registry for Patients with WT1 Mutation Associated Diseases
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

DUITSLAND

Hessen
GIEßEN

Mutation Database Retina International: Bardet-Biedl syndrome 2 (BBS2)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DUITSLAND

Hessen
GIEßEN

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

DUITSLAND

Hessen
GIEßEN

Mutation Database Retina International: Bardet-Biedl Syndrome Type 4 Gene (BBS4)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DUITSLAND

Hessen
GIEßEN

Mutation Database Retina International: Retinoschisin Gene(RS1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DUITSLAND

Hessen
GIEßEN

Mutation Database Retina International: Bardet-Biedl Syndrome Type 1 Gene (BBS1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DUITSLAND

Hessen
GIEßEN

Mutation Database Retina International: Bardet-Biedl Syndrome Type 7 Gene (BBS7)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DUITSLAND

Hessen
GIEßEN

Mutation Database Retina International: P-Cadherin Gene (CDH3)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DUITSLAND

Niedersachsen
HANNOVER

German Fanconi anemia registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

DUITSLAND

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

FRANKRIJK

GRAND-EST
STRASBOURG

Mutation registry of the Coffin-Lowry syndrome
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique

FRANKRIJK

GRAND-EST
STRASBOURG

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

FRANKRIJK

GRAND-EST
STRASBOURG

Gefinancierd door een IRDiRC-lidRaDiCo-COBBALT: National cohort on Bardet-Bield syndrome and Alström syndrome
CHU de Strasbourg - Hôpital de Hautepierre
Service de génétique médicale

FRANKRIJK

ILE-DE-FRANCE
PARIS

Gefinancierd door een IRDiRC-lidRaDiCo-SED-VASC: National cohort on vascular Ehlers-Danlos syndrome
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Service de génétique - CR des Maladies Vasculaires Rares

ITALIË

CAMPANIA
NAPOLI

RIAF: Fanconi's Anemia Italian Registry
P.S.I. "Elena d'Aosta"
U.O.C. Servizio di Genetica

ITALIË

TOSCANA
FIRENZE

Biogene- Biobank of biological material from patients affected by genetic diseases
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica

ITALIË

VENETO
PADOVA

NEDERLAND

Gelderland
NIJMEGEN

Gefinancierd door een IRDiRC-lidERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

NEDERLAND

Zuid-Holland
LEIDEN

Biobank Bone Remodeling and Mineralisation Disorders (whole blood/plasma/serum/urine/DNA/bone)
LUMC - Leids Universitair Medisch Centrum
Afdeling Endocrinologie

POLEN

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

SPANJE

Cataluńa
BARCELONA

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

SPANJE

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

SPANJE

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

SPANJE

Madrid
MADRID

Spanish Registry of Patients with Fanconi Anemia
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

USA

New York
NEW YORK

IFAR: International Fanconi Anemia patient Registry
The Rockefeller University
Laboratory of Genome Maintenance

VERENIGD KONINKRIJK

Cambridgeshire
CAMBRIDGE

European Prader-Willi syndrome database
Developmental Psychiatry - University of Cambridge
Learning Disabilities Research Group

VERENIGD KONINKRIJK

North Yorkshire
YORK

UK & Ireland Fanconi Anaemia Registry
The University of York
Epidemiology and Genetics Unit

VERENIGD KONINKRIJK

Oxfordshire
OXFORD

UK10K RARE CHD - Congenital heart disease variant database
The Wellcome Trust Centre for Human Genetics
Division of Cardiovascular Medicine

VERENIGD KONINKRIJK

West Midlands
BIRMINGHAM

ZWEDEN

Region Skĺne
LUND

DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lund University
Department of Experimental Medical Science

DUITSLAND

Baden-Württemberg
HEIDELBERG

The Human Short Stature Gene Allelic Variant Database
Institut für Humangenetik am Universitätsklinikum Heidelberg
Abteilung Molekulare Humangenetik

DUITSLAND

Baden-Württemberg
TÜBINGEN

National MRKH patient registry
Universitäts-Frauenklinik Tübingen
Frauenklinik

DUITSLAND

Baden-Württemberg
ULM

OSTEOPETR: International registry of patients suffering from osteopetrosis
Klinik für Kinder- und Jugendmedizin des Universitätsklinikums Ulm
Sektion Knochenmark- und Stammzelltransplantation

DUITSLAND

Berlin
BERLIN

SSFA-database: Sequence-Structure-Function-Analysis of Glycoprotein Hormone Receptors
Leibniz-Institut für Molekulare Pharmakologie
Structural Bioinformatics and Protein Design

DUITSLAND

Hessen
GIEßEN

Mutation Database Retina International: Bestrophin Gene (BEST1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

FRANKRIJK

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 de pathologies endocriniennes rénales, musculaires et mucoviscidose

FRANKRIJK

CENTRE-VAL DE LOIRE
TOURS

NF-France: genotype/phenotype database on neurofibromatosis 1
CHRU de Tours - Hôpital Clocheville
Pôle Enfants - Neuropédiatrie et handicaps

FRANKRIJK

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

FRANKRIJK

ILE-DE-FRANCE
PARIS

French cohort in genetic microcephalies
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique

FRANKRIJK

OCCITANIE
MONTPELLIER

UMD FBN2 (fibrillin 2) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

HONGARIJE

Dél-Dunántúl
PECS

Neurofibromatosis type 1 biobank
Clinical Center - University of Pécs
Department of Medical Genetics

HONGARIJE

Közép-Magyarország
BUDAPEST

National NF Register
Nemzeti NF Regiszter
NF Magyarorszag

ITALIË

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

ITALIË

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

ITALIË

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

ITALIË

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

ITALIË

LOMBARDIA
MILANO

International registry of bone fragility fractures in the young
IRCCS Istituto Auxologico Italiano - Ospedale San Michele
Centro Malattie Metaboliche Ossee

ITALIË

VENETO
PADOVA

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

ITALIË

VENETO
VERONA

Italian Registry for patients with Shwachman Diamond Syndrome
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica

NEDERLAND

Groningen
GRONINGEN

L1CAM Mutation Database
UMCG - Universitair Medisch Centrum Groningen
Laboratorium DNA Diagnostiek

NEDERLAND

Zuid-Holland
ROTTERDAM

Biobank Frontotemporale Dementie Erasmus MC (DNA/RNA/plasma/serum/weefsel)
Erasmus MC - Erasmus Medisch Centrum
Alzheimercentrum Erasmus MC

PORTUGAL

SUL
LISBOA

Biobanco-IMM
Faculdade de Medicina da Universidade de Lisboa
Biobanco-IMM

SPANJE

Asturias
OVIEDO

Registro MEN: Spanish registry of multiple endocrine neoplasia, pheochromocitomas and paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición

USA

New York
NEW YORK

International Rare Genetic Steroid Disorders Consortium (RGSDC) registry
The Mount Sinai School of Medicine
Department of pediatric endocrinology

VERENIGD KONINKRIJK

Cambridgeshire
CAMBRIDGE

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

VERENIGD KONINKRIJK

Glasgow
GLASGOW

I-DSD: International Disorders of Sex Development registry
Royal Hospital For Children, NHS Greater Glasgow & Clyde
Child Health, School of Medicine

ZWEDEN

Region Skĺne
LUND

IKBKGbase: Mutation registry for Nemo deficiency
Lund University
Department of Experimental Medical Science

ZWEDEN

Region Skĺne
LUND

ZWEDEN

Region Skĺne
LUND

SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lund University
Department of Experimental Medical Science

ZWEDEN

Region Skĺne
LUND

SMARCAL1base: Mutation registry for Schimke immuno-osseous dysplasia
Lund University
Department of Experimental Medical Science

DUITSLAND

Hessen
GIEßEN

'Mutation Database Retina International: Centrosomal Protein; 290 kDa (CEP290)'
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

FRANKRIJK

ILE-DE-FRANCE
PARIS

EU-CHS: European central hypoventilation syndrome registry
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et neuroprotection des atteintes du cerveau en développement"

SPANJE

Asturias
OVIEDO

Gefinancierd door een IRDiRC-lidRenalTube: Database of patients with primary tubulopathies
Hospital Universitario Central de Asturias
Servicio de Pediatría

VERENIGD KONINKRIJK

Staffordshire
STOKE ON TRENT

UK Registry for Central Hypoventilation Syndrome (CHS)
University Hospital of North Staffordshire - Cheethams Children's Centre
UK Central Hypoventilation Syndrome Registry

BELGIË

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

VERENIGD KONINKRIJK

Tyne & Wear
NEWCASTLE UPON TYNE

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance
Institute of Genetic Medicine - International Centre for Life
Global FKRP Registry

Netwerken van registers en biobanken

ITALIË

LIGURIA
GENOVA

TELETHON NETWORK OF GENETIC BIOBANKS
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche
  • SPANJE

    Madrid
    MADRID

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

    Antrim and Newtownabbey
    NEWTOWNABBEY

    DUITSLAND

    Niedersachsen
    HANNOVER

    BMFS: Network for Congenital Bone Marrow Failure Syndromes (patient registry)
  • Medizinische Hochschule Hannover
  • Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung
  • VERENIGD KONINKRIJK

    West Midlands
    BIRMINGHAM