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Financiado por un miembro del IRDiRC = Miembro de una ERN =
Registos y biobancos

Baden-Württemberg
HEIDELBERG
National Cancer-predisposing syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

Niedersachsen
HANNOVER
National Cancer-predisposing syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

CENTRO
COIMBRA
Central regional cancer patient registry
Instituto Português de Oncologia de Coimbra Francisco Gentil, EPE
Registo Oncológico Regional - Zona Centro

ILHAS
AÇORES
Açores regional cancer patient registry (RORA)
Centro de Oncologia dos Açores Prof Doutor José Conde
Registo Oncológico Regional dos Açores

NORTE
PORTO
North regional cancer registry (RORENO)
Instituto Português de Oncologia do Porto Francisco Gentil, EPE
Registo Oncológico Regional do Norte

Baden-Württemberg
FREIBURG
GAIN: Patient Registry of the German Network for the Research and Therapy Optimization of Patients with Multi-Organ Autoimmune Diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
FREIBURG
GAIN-Biobank: Consortial Biobank for patients with Inborn Errors of Multi-Organ Autoimmune Diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
FREIBURG
GAIN: Patient Registry of the German Network for the Research and Therapy Optimization of Patients with Multi-Organ Autoimmune Diseases
CCI am Universitätsklinikum Freiburg
ESID-Registry

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

Niedersachsen
HANNOVER
GAIN-Biobank: Consortial Biobank for patients with Inborn Errors of Multi-Organ Autoimmune Diseases
CRC Hannover
Hannover Unified Biobank (HUB)

Rheinland-Pfalz
MAINZ
German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System, Member of IACR and ENCR)
Institut für Medizinische Biometrie, Epidemiologie und Informatik (IMBEI)
Deutsches Kinderkrebsregister am IMBEI

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

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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
CRRD: Central Registry of Rare Diseases
Sciensano
Health Services Research - Rare Diseases

KOREA, REPUBLIC OF
SEOUL
Korean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

Andalucía
SEVILLA
Registro de enfermedades raras de Andalucía
Junta de Andalucía. Consejería de Salud y Bienestar Social
Subdirección Técnica Asesora de Gestión de la Información

Aragón
ZARAGOZA
Registro de enfermedades raras de la Comunidad Autónoma de Aragón
Gobierno de Aragón. Departamento de Sanidad
Servicio de Evaluación y Acreditación Sanitaria

Cantabria
SANTANDER
Registro poblacional de enfermedades raras y anomalias congenitas de Cantabria
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria

Comunidad Valenciana
VALENCIA
SIER-CV: Sistema de Información de Enfermedades Raras de la Comunitat Valenciana
Generalitat Valenciana. Conselleria de Sanitat Universal i Salut Pública
Servicio de Estudios Epidemiológicos y Vigilancia de Enfermedades No Transmisibles

Comunidad Valenciana
VALENCIA
CIBERER Biobank (Banco de muestras biológicas de enfermedades raras)
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

Comunidad Valenciana
VALENCIA
CIBERER Biobank (Banco de muestras biológicas de enfermedades raras)
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

Extremadura
MÉRIDA
Registro de enfermedades raras de Extremadura
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología

Galicia
SANTIAGO DE COMPOSTELA
RERGA: Registro de enfermedades raras de Galicia
Servicio Gallego de Salud
Servicio de Atención Hospitalaria

Madrid
MADRID
BioNER: Biobanco Nacional de Enfermedades Raras
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

Madrid
MADRID
RePER: Registro de Pacientes de Enfermedades Raras
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

Murcia
MURCIA
SIERrm: Sistema de Información sobre enfermedades raras de la Región de Murcia
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria

Navarra
PAMPLONA
RERNA: Registro poblacional de enfermedades raras de Navarra
Instituto de Salud Pública y Laboral de Navarra
Observatorio de la Salud Comunitaria

País Vasco
BARAKALDO
Biobanco Vasco
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

País Vasco
VITORIA-GASTEIZ
Registro de Enfermedades Raras de la Comunidad Autónoma de Euskadi
Gobierno Vasco. Departamento de Salud
Registro de Enfermedades Raras de la Comunidad Autónoma de Euskadi

South Dakota
SIOUX FALLS
CORDS Registry: Coordination of Rare Diseases at Sanford Registry
Sanford Research
Standford Research

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

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)

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

LAZIO
ROMA
RNMR: Italian National Rare Diseases Registry
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

LIGURIA
GENOVA
Galliera Genetic Bank
Ente Ospedaliero Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

LIGURIA
GENOVA
Telethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

LIGURIA
GENOVA
Genetic Biobank of the Human Genetics Laboratory (BGU-IGG)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O.C. Laboratorio di Genetica Umana

TOSCANA
PISA
Tuscan Registry of Rare Diseases
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Fondazione Toscana Gabriele Monasterio

VENETO
PADOVA
Rare Diseases Registry - Veneto Region
Azienda Ospedaliera di Padova
Coordinamento Malattie Rare Regione del Veneto

Rabat
RABAT
Moroccan National Genetic Database
Institut National d'Hygiène
Département de génétique médicale

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

Gelderland
NIJMEGEN
ERN [GENTURIS] - GENTURIS registry: The Genetic Tumour Risk Syndromes Registry
Radboudumc - Radboud universitair medisch centrum
Sectie Klinische Genetica

Cambridgeshire
CAMBRIDGE
National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)
Public Health England (PHE)
NCARDRS

Region Skåne
LUND
CD19base: Mutation registry for CD19 deficiency
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
ICOSbase: Mutation registry for ICOS deficiency
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
TMC6base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER1base)
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
TMC8base: Mutation registry for Epidermodysplasia verruciformis (previously known as EVER2base)
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
TNFRSF13Bbase: Mutation registry for TACI deficiency
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
HAX1base: Mutation registry for Severe congenital neutropenia (Kostmann disease)
Lunds Universitet
Department of Experimental Medical Science

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

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

Hessen
FRANKFURT AM MAIN
Ataxia-Telangiectasia patient registry - contributes to the ESID Database
Universitätsklinikum Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

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

Sachsen-Anhalt
MAGDEBURG
GPOH-MET Registry: Prospective, multicentre registry for the detection of malignant endocrine tumours in childhood and adolescence
Universitätsklinikum Magdeburg A.ö.R
Universitätskinderklinik

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

ARRONDISSEMENT BRUSSELS-CAPITAL
SCHAERBEEK (BRUXELLES)
Belgian familial adenomatous polyposis registry
FAPA
Familial Adenomatous Polyposis Association A.S.B.L./V.Z.W.

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

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

Asturias
OVIEDO
REGMEN: Registro de Neoplasias Endocrinas Múltiples, Feocromocitomas/Paragangliomas
Hospital Universitario Central de Asturias
Servicio de Endocrinología y Nutrición

Baleares
PALMA DE MALLORCA
RERIB: Registro poblacional de Enfermedades raras de las Illes Balears
Govern de les Illes Balears. Consejería de Salud y Consumo
Servicio de Epidemiología

Castilla - León
SALAMANCA
Banco Nacional de ADN: Colección de muestras de enfermedades raras
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN

Cataluña
BARCELONA
Colección de muestras de síndromes de reparación del ADN integrada en el Biobanco Nacional de Enfermedades Raras (BioNER)
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Servicio de análisis de fragilidad cromosómica

Madrid
MADRID
Registro de xeroderma pigmentoso de la Academia Española de Dermatología y Venereología (AEDV) integrado en el Registro de Pacientes de Enfermedades Raras ISCIII (RePER)
Academia Española de Dermatología y Venereología

Madrid
MADRID
Registro Español de Pacientes con Anemia de Fanconi
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

Madrid
MADRID
SIERMA: Sistema de información de enfermedades raras de Madrid
Comunidad de Madrid. Direccion General de Salud Publica
Subdirección General de Vigilancia en Salud Pública

Madrid
MADRID
Registro de xeroderma pigmentoso de la Academia Española de Dermatología y Venereología (AEDV) integrado en el Registro de Pacientes de Enfermedades Raras ISCIII (RePER)
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

New York
NEW YORK
IFAR: International Fanconi Anemia patient Registry
The Rockefeller University
Laboratory of Genome Maintenance

AUVERGNE-RHONE-ALPES
BRON
UMD MEN1 (multiple endocrine neoplasis I) mutations database
CHU de Lyon HCL - GH Est
Unité Médicale de Génétique des Cancers et des Maladies Multifactorielles

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

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

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

ILE-DE-FRANCE
CRÉTEIL
NF-France: genotype/phenotype database on neurofibromatosis 1
Hôpitaux Universitaires Henri Mondor
Service de dermatologie

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

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

ILE-DE-FRANCE
PARIS
MUTP53LOAD: Mutant p53 Loss Of Activity Database
CLCC Institut Curie
Laboratoire de Génotoxicologie des Tumeurs

ILE-DE-FRANCE
PARIS
UMD LMNA (Lamin A/C) mutations database
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

OCCITANIE
MONTPELLIER
UMD VHL (von Hippel-Lindau tumor suppressor) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

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

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

Dél-Dunántúl
PECS
Tuberous sclerosis biobank
Clinical Center - University of Pécs
Department of Medical Genetics

CAMPANIA
NAPOLI
RIAF: Fanconi's Anemia Italian Registry
P.S.I. "Elena d'Aosta"
Laboratorio di Genetica Medica

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Registry of Neurofibromatosis
Institution: Information not provided - IT

EMILIA ROMAGNA
BOLOGNA
Italian Li-Fraumeni syndrome registry
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

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

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

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

TOSCANA
FIRENZE
Italian register multiple endocrine neoplasia type 1
FIRMO - Fondazione Italiana Ricerca sulle Malattie dell'Osso

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

VENETO
VERONA
RI-SDS: Italian Registry of Shwachman Diamond Syndrome
Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
Centro Fibrosi Cistica

Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

Gelderland
NIJMEGEN
ERN [eUROGEN] - ERN eUROGEN Registry for rare urogenital diseases
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence

Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

Noord-Holland
AMSTERDAM
Biobank CEEx study (fibroblasts)
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

Zuid-Holland
LEIDEN
European Parathyroid Tumor Registry
LUMC - Leids Universitair Medisch Centrum
Afdeling Pathologie

Zuid-Holland
ROTTERDAM
ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen

Hertfordshire
HARPENDEN
International A-T Registry - UK
AT Society
A-T Patient Registry

Region Skåne
LUND
BLMbase: Mutation registry for Bloom Syndrome
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
CASP8base: Mutation registry for Caspase 8 deficiency
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
FASLGbase: Mutation registry for Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (previously known as TNFSF6base)
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
LIG4base: Mutation registry for LIG4 syndrome
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
MRE11Abase: Mutation registry for Ataxia-telangiectasia-like disorder (ATLD)
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
SBDSbase: Mutation registry for Shwachman-Diamond syndrome
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS)
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
BIRC4base: Mutation registry for X-linked lymphoproliferative syndrome
Lunds Universitet
Department of Experimental Medical Science

Region Skåne
LUND
NRASbase: Mutation registry for Autoimmune lymphoproliferative syndrome type IV
Lunds Universitet
Department of Experimental Medical Science

Region Stockholm
SOLNA
RMMS: Registry of Inherited Metabolic Diseases
Karolinska Universitetssjukhuset
CMMS - Centre for Inherited Metabolic Diseases

Suisse Alémanique
BASEL
SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Kardiologische Klinik - Spezial-Sprechstunden

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

Suisse Alémanique
BERN
SwissNET - Registry for Neuroendocrine Tumours in Switzerland
Universitätsspital Inselspital
SwissNET - Registry for Neuroendocrine Tumours in Switzerland

TURKEY
ISTANBUL
ptenturkey
Demiroglu Bilim University Faculty of Medicine Department of Medical Genetics
Medical Genetics

ARRONDISSEMENT BRUSSELS-CAPITAL
SCHAERBEEK (BRUXELLES)
Belgian Lynch syndrome registry
FAPA
Familial Adenomatous Polyposis Association A.S.B.L./V.Z.W.

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

ILE-DE-FRANCE
PARIS
UMD APC (adenomatous polyposis coli) mutations database
CLCC Institut Curie
Laboratoire de Génotoxicologie des Tumeurs

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

PUGLIA
SAN GIOVANNI ROTONDO
Collection of micro-RNA from normal and tumoral tissues of patients with colon rectal cancer
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Laboratorio di Ricerca U.O.C. di Gastroenterologia

PUGLIA
SAN GIOVANNI ROTONDO
Collection of micro-RNA from normal and tumoral tissues of patients with colon rectal cancer
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
Laboratorio di Ricerca Divisione di Gastroenterologia
Redes de registos y biobancos

MALTA
MALTA