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Financé par un membre IRDiRC = Membre d'un ERN =

Registres et biobanques

ALLEMAGNE

Baden-Württemberg
FREIBURG

Financé par un membre IRDiRCPID-NET: German National Registry for Primary Immunodeficiencies (PID) - partner of the ESID registry
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALLEMAGNE

Baden-Württemberg
FREIBURG

ESID: European registry of primary immunodeficiencies
Universitätsklinikum Freiburg
ESID Online Datenbank

ALLEMAGNE

Bayern
MÜNCHEN

PID-NET: Decentral National Biomaterial Bank from patients with Primary Immunodeficiency Syndromes
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)

BELGIQUE

OOST-VLAANDEREN
GENT

A biobank of patients with Primary Immune Deficiencies (PID)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center

BELGIQUE

VLAAMS BRABANT
LEUVEN

Belgian registry of primary immunodeficiencies - contributes to the ESID European registry
UZ Leuven - Campus Gasthuisberg
Laboratory of Pediatric Immunology

BULGARIE

 South-West region
SOFIA

ESPAGNE

Baleares
PALMA DE MALLORCA

FRANCE

ILE-DE-FRANCE
PARIS

CEREDIH: registre français des déficits immunitaires héréditaires
Hôpital Necker-Enfants Malades
Registre français des déficits immunitaires héréditaires

FRANCE

ILE-DE-FRANCE
PARIS

SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe
Hôpital Necker-Enfants Malades
Registre européen des greffes de moelle osseuse pour immunodéficience primaire

IRLANDE

County Dublin
DUBLIN

ITALIE

LIGURIA
GENOVA

Financé par un membre IRDiRCERN [RITA] - MERITA: A METADATA REGISTRY FOR THE ERN RITA
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O. Pediatria II

POLOGNE

Warszawa
WARSAW

Polish registry of primary immunodeficiencies - contributes to the ESID European registry
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Klinika Immunologii

PORTUGAL

NORTE
PORTO

Portuguese registry of primary immunodeficiency diseases (REPORID)
Centro Hospitalar Universitário do Porto - Hospital Santo António
Centro Coordenador do REPORID

ALLEMAGNE

Baden-Württemberg
FREIBURG

ALLEMAGNE

Bayern
MÜNCHEN

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

BELGIQUE

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

ESPAGNE

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

ESPAGNE

Aragón
ZARAGOZA

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

ESPAGNE

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

ESPAGNE

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

ESPAGNE

Comunidad Valenciana
VALENCIA

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

ESPAGNE

Extremadura
MÉRIDA

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

ESPAGNE

Galicia
SANTIAGO DE COMPOSTELA

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

ESPAGNE

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

ESPAGNE

Madrid
MADRID

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

ESPAGNE

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

ESPAGNE

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

FRANCE

AUVERGNE-RHONE-ALPES
PIERRE-BENITE

Cohorte française des déficits immunitaires primitifs avec hypogammaglobulinémie de l'adulte (DICV)
CHU de Lyon HCL - GH Sud
Service de médecine interne et pathologie vasculaire

FRANCE

ILE-DE-FRANCE
PARIS

Banque Nationale de Données Maladies Rares (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)

ITALIE

LIGURIA
GENOVA

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

SUEDE

Region Skĺne
LUND

CD19base: Mutation registry for CD19 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

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

SUEDE

Region Skĺne
LUND

ICOSbase: Mutation registry for ICOS deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

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

SUEDE

Region Skĺne
LUND

RAG1base: Mutation registry for autosomal recessive RAG1 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

RAG2base: Mutation registry for autosomal recessive RAG2 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

SUEDE

Region Skĺne
LUND

STAT5Bbase: Mutation registry for Growth hormone insensitivity with immunodeficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

TCN2base: Mutation registry for Transcobalamin II deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

TNFRSF13Bbase: Mutation registry for TACI deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

ORAI1base: Mutation registry for Severe combined immunodeficiency
Lund University
Department of Experimental Medical Science

SUISSE

Suisse Alémanique
BERN

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

ALLEMAGNE

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

ALLEMAGNE

Hessen
MARBURG

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

AUTRICHE

OBERÖSTERREICH
LINZ

Non-Interventional, web-based Registry for Histiocytic Disorders
Ordensklinikum Linz GmbH Elisabethinen
Interne 1 - Hämatologie mit Stammzelltransplantation, Hämostaseologie und medizinische Onkologie

AUTRICHE

TIROL
INNSBRUCK

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

COREE, REPUBLIQUE DE

KOREA, REPUBLIC OF
SEOUL

Financé par un membre IRDiRCKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

DANEMARK

Sjćlland
COPENHAGEN

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

ESPAGNE

Cataluńa
BELLATERRA

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

ESPAGNE

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

ESPAGNE

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

ESPAGNE

País Vasco
BARAKALDO

Financé par un membre IRDiRCBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

ESTONIE

Tartu
TARTU

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

FRANCE

ILE-DE-FRANCE
PARIS

Etude CoF-AT: étude de cohorte française sur l'ataxie-télangiectasie
CLCC Institut Curie
Cancer et génome: bioinformatique, biostatistiques et épidémiologie d'un systčme complexe

ITALIE

LAZIO
ROMA

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

ITALIE

LAZIO
ROMA

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

ITALIE

LAZIO
ROMA

Lymphomas Database
Azienda Ospedaliera Sant'Andrea

ITALIE

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

ITALIE

LIGURIA
GENOVA

Financé par un membre IRDiRCTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIE

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

MAROC

Rabat
RABAT

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

NORVEGE

Řstlandet
OSLO

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

ROYAUME-UNI

Nottinghamshire
NOTTINGHAM

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

ROYAUME-UNI

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

SUEDE

Region Skĺne
LUND

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

SUEDE

Region Skĺne
LUND

CASP10base: Mutation registry for Autoimmune lymphoproliferative syndrome, type II (ALPS2)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

CASP8base: Mutation registry for Caspase 8 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

CD3Gbase: Mutation registry for autosomal recessive CD3gamma immunodeficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

SUEDE

Region Skĺne
LUND

DNMT3Bbase: Mutation registry for ICF syndrome
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

SUEDE

Region Skĺne
LUND

IL2RAbase: Mutation registry for Interleuken 2 receptor alpha deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

LIG4base: Mutation registry for LIG4 syndrome
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

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

SUEDE

Region Skĺne
LUND

NPbase: Mutation registry for PNP deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

SUEDE

Region Skĺne
LUND

RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

SUEDE

Region Skĺne
LUND

RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

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

SUEDE

Region Skĺne
LUND

SPINK5base: Mutation registry for Netherton syndrome
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

STX11base: Mutation registry for Familial haemophagocytic lymphohistiocytosis 4 (FHL4)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

TAP1base: Mutation registry for TAP1 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

TAP2base: Mutation registry for TAP2 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

TAPBPbase: Mutation registry for Tapasin deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

ZAP70base: Mutation registry for autosomal recessive ZAP70 immunodeficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

CD8Abase: Mutation registry for CD8 alpha deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

IGHG2base: Mutation registry for IgG2 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

BIRC4base: Mutation registry for X-linked lymphoproliferative syndrome
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

NRASbase: Mutation registry for Autoimmune lymphoproliferative syndrome type IV
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

STAT3base: Mutation registry for Hyper-IgE syndrome
Lund University
Department of Experimental Medical Science

SUISSE

Suisse Alémanique
BASEL

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

ALLEMAGNE

Hessen
GIEßEN

Mutation Database Retina International: Small Nucleotide-binding Protein 27a Gene (RAB27A)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

ALLEMAGNE

Hessen
GIEßEN

Mutation Database Retina International: Adaptin b3a Gene (AP3B1)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

ALLEMAGNE

Hessen
GIEßEN

Mutation Database Retina International: Chediak Higashi Syndrome (LYST)
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

SUEDE

Region Skĺne
LUND

ADAbase: Mutation registry for Adenosine deaminase deficiency (ADA)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

AICDAbase: Mutation registry for Non-X-linked hyper-IgM syndrome
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

AP3B1base: Mutation registry for Hermansky-Pudlak syndrome 2
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

CD3Dbase: Mutation registry for Autosomal recessive CD3delta deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

CD3Ebase: Mutation registry for autosomal recessive CD3epsilon immunodeficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

CD40base: Mutation registry for CD40 deficiency (previously known as TNFRSF5base)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

DCLRE1Cbase: Mutation registry for Artemis deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

IGHMbase: Mutation registry for ć heavy-chain deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

IGLL1base: Mutation registry for lambda 5 surrogate light-chain deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

IL7Rbase: Mutation registry for Interleukin-7 receptor alpha deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

PTPRCbase: Mutation registry for CD45 deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

UNGbase: Mutation registry for UNG deficiency (Hyper-IgM syndrome, type 5)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

CD79base: Mutation registry for Ig alpha deficiency
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

BTKbase: Mutation registry for X-linked agammaglobulinemia (XLA)
Lund University
Department of Experimental Medical Science

SUEDE

Region Skĺne
LUND

CD40Lbase: Mutation registry for X-linked Hyper-IgM syndrome (XHIM)
Lund University
Department of Experimental Medical Science

Réseaux de registres et biobanques

ALLEMAGNE

Niedersachsen
HANNOVER

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

    Madrid
    MADRID

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

    LIGURIA
    GENOVA

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