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216 Ergebnis(se)

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Förderung durch ein IRDiRC-Mitglied = ERN-Mitglied =

Register und Biobanken

BELGIEN

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

BELGIEN

VLAAMS BRABANT
LEUVEN

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

BULGARIEN

 South-West region
SOFIA

DEUTSCHLAND

Baden-Württemberg
FREIBURG

Förderung durch ein IRDiRC-MitgliedPID-NET: Deutsches Nationales Patientenregister für primäre Immundefekte - Partner des ESID-Registers
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

DEUTSCHLAND

Baden-Württemberg
FREIBURG

ESID: Europäisches Patientenregister für primäre Immundefekte
Universitätsklinikum Freiburg
ESID Online Datenbank

DEUTSCHLAND

Baden-Württemberg
FREIBURG

DEUTSCHLAND

Bayern
MÜNCHEN

PID-NET: Dezentrale nationale Biobank für primäre Immundefekt-Syndrome
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)

FRANKREICH

ILE-DE-FRANCE
PARIS

CEREDIH: French primary immunodeficiencies registry
Hôpital Necker-Enfants Malades
Registre français des déficits immunitaires héréditaires

FRANKREICH

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

IRLAND

County Dublin
DUBLIN

ITALIEN

LIGURIA
GENOVA

Förderung durch ein IRDiRC-MitgliedERN [RITA] - MERITA: A METADATA REGISTRY FOR THE ERN RITA
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O. Pediatria II

POLEN

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

SPANIEN

Baleares
PALMA DE MALLORCA

BELGIEN

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

FRANKREICH

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)

SCHWEIZ

Suisse Alémanique
BERN

Schweizer Register für seltene Krankheiten
Institute of Social and Preventive Medicine (ISPM)

SCHWEIZ

Suisse Alémanique
ZÜRICH

Schweizer Register für seltene Krankheiten
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

SPANIEN

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

SPANIEN

Aragón
ZARAGOZA

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

SPANIEN

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

SPANIEN

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
Dirección General de Salud Pública y Consumo

SPANIEN

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

SPANIEN

Comunidad Valenciana
VALENCIA

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

SPANIEN

Extremadura
MÉRIDA

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

SPANIEN

Galicia
SANTIAGO DE COMPOSTELA

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

SPANIEN

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

SPANIEN

Madrid
MADRID

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

SPANIEN

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

SPANIEN

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

DANEMARK

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

ITALIEN

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

ITALIEN

LIGURIA
GENOVA

Förderung durch ein IRDiRC-MitgliedTelethon Network of Genetic Biobanks
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

MAROKKO

Rabat
RABAT

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

NORWEGEN

Řstlandet
OSLO

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

OSTERREICH

TIROL
INNSBRUCK

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

REPUBLIK KOREA

KOREA, REPUBLIC OF
SEOUL

Förderung durch ein IRDiRC-MitgliedKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

SPANIEN

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

SPANIEN

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

SPANIEN

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

SPANIEN

País Vasco
BARAKALDO

Förderung durch ein IRDiRC-MitgliedBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

BELGIEN

VLAAMS BRABANT
LEUVEN

Pediatric granulomatous arthritis international registry
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology

BELGIEN

VLAAMS BRABANT
LEUVEN

Biobank of the pediatric granulomatous arthritis international registry
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology

DEUTSCHLAND

Baden-Württemberg
FREIBURG

DEUTSCHLAND

Baden-Württemberg
FREIBURG

DEUTSCHLAND

Baden-Württemberg
TÜBINGEN

Neutropenia biobank - contributes to the SCN international registry (SCNIR)
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für allgemeine Pädiatrie, Hämatologie/Onkologie

DEUTSCHLAND

Bayern
MÜNCHEN

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

DEUTSCHLAND

Niedersachsen
HANNOVER

FRANKREICH

AUVERGNE-RHONE-ALPES
PIERRE-BENITE

French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)
CHU de Lyon HCL - GH Sud
Service de médecine interne et pathologie vasculaire

FRANKREICH

ILE-DE-FRANCE
PARIS

French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)
CHU Paris-GH St-Louis Lariboisičre F.Widal - Hôpital Saint-Louis
Service d'Immuno-Hématologie

FRANKREICH

ILE-DE-FRANCE
PARIS

BLAU registry: French pediatric granulomatous arthritis registry
Hôpital Necker-Enfants Malades
Service d'Immuno-hématologie pédiatrique - Rhumatologie

ITALIEN

LAZIO
ROMA

FMF: Italian registry for familial mediterranean fever in the young
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Sezione Pediatrica

ITALIEN

LAZIO
ROMA

Italian Registry of adult patients affected by familial mediterranean fever
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Centro delle Febbri Periodiche - Istituto di Medicina Interna

ITALIEN

LIGURIA
GENOVA

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

NIEDERLANDE

Utrecht
NIEUWEGEIN

Förderung durch ein IRDiRC-MitgliedBiobank of Interstitial Lung Diseases (DNA/serum/plasma/BAL fluid)
St. Antonius Ziekenhuis, locatie Nieuwegein
Longcentrum

OSTERREICH

STEIERMARK
GRAZ

Hautkrebssyndrom-Register Graz
Medizinische Universität Graz
Universitätsklinik für Dermatologie und Venerologie

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

IFNGR1base: Mutation registry for IFN gamma 1-receptor deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

IFNGR2base: Mutation registry for IFN gamma 2-receptor deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

IL12RB1base: Mutation registry for Interleukin-12 receptor á1 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

IRAK4base: Mutation registry for IRAK4 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

STAT1base: Mutation registry for STAT1 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

TLR3base: Mutation registry for Influenza-associated encephalopathy
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

UNC93B1base: Mutation registry for UNC93B deficiency (Herpes simplex encephalitis)
Lund University
Department of Experimental Medical Science

SPANIEN

Galicia
LUGO

REPA: Spanish registry of alveolar proteinosis
Hospital Universitario Lucus Augusti
Servicio de Neumología

BELGIEN

OOST-VLAANDEREN
GENT

Belgian severe chronic neutropenia patient registry - contributes to the Severe Chronic Neutropenia International Registry (SCNIR)
Kinderziekenhuis Prinses Elisabeth- UZ Gent
Pediatric Hematology-Oncology and Stem Cell Transplantation/Afdeling Hemato-oncologie en stamceltransplantatie kinderen

DEUTSCHLAND

Hessen
FRANKFURT AM MAIN

AT-Patientenregister (eingebunden in die ESID-Datenbank)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

DEUTSCHLAND

Hessen
GIEßEN

Mutationsdatenbank Retina International: LYST-Gen
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DEUTSCHLAND

Hessen
MARBURG

Nationalen Fallsammlung Familiäres Pankreaskarzinom
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie

DEUTSCHLAND

Niedersachsen
HANNOVER

Förderung durch ein IRDiRC-MitgliedSCNIR - Neutropenie Zellbank
Medizinische Hochschule Hannover
SCNIR - Europazentrale

FRANKREICH

ILE-DE-FRANCE
PARIS

French severe chronic neutropenia certified patient registry - contributes to the SCN international registry (SCNIR)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service d'Hématologie - Oncologie pédiatrique

FRANKREICH

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

FRANKREICH

ILE-DE-FRANCE
PARIS

CoF-AT study: a French cohort on ataxia-telangiectasia
CLCC Institut Curie
Service de Génétique

GRIECHENLAND

ATTIKI
ATHENS

IRLAND

County Dublin
DUBLIN

Irish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Children's Health Ireland @ Temple Street
Department of Haematology

ISRAEL

ISRAEL
PETAH TIKVA

Israelian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Schneider Children's Medical Center of Israel
Pediatric Hematology Unit

ITALIEN

LAZIO
ROMA

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

ITALIEN

LAZIO
ROMA

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

ITALIEN

LAZIO
ROMA

Lymphomas Database
Azienda Ospedaliera Sant'Andrea

ITALIEN

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

ITALIEN

TOSCANA
FIRENZE

SCNIR: Italian severe chronic neutropenia registry - contributes to the SCN international registry
Azienda Ospedaliera Universitaria Anna Meyer
D.A.I. Oncoematologia

ITALIEN

VENETO
VERONA

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

NIEDERLANDE

Gelderland
NIJMEGEN

Förderung durch ein IRDiRC-MitgliedERN [GENTURIS] - GENTURIS registry: The ERN Genetic Tumour Risk Syndromes Registry
Radboudumc - Radboud universitair medisch centrum
Sectie Klinische Genetica

NIEDERLANDE

Utrecht
UTRECHT

Dutch severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Hematologie

NORWEGEN

Řstlandet
OSLO

OSTERREICH

OBERÖSTERREICH
LINZ

Austrian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)
Kepler Universitätsklinikum - Med Campus IV.
Zentrum für Medizinische Genetik

OSTERREICH

OBERÖSTERREICH
LINZ

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

POLEN

Wroclaw
WROCLAW

Polish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Ponadregionalne Centrum Onkologii Dzieciecej PRZYLADEK NADZIEI
Klinika Transplantacji Szpiku, Onkologii i Hematologii Dzieciecej

PORTUGAL

CENTRO
COIMBRA

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

C2base: Mutation registry for C2 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

C5base: Mutation registry for C5 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

C6base: Mutation registry for C6 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

C7base: Mutation registry for C7 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

C8Bbase: Mutation registry for C8B deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

C9base: Mutation registry for C9 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

CEBPEbase: Mutation registry for Neutrophil-specific granule deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

CFHbase: Mutation registry for Factor H deficiency (previously known as HF1base)
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

CFIbase: Mutation registry for Factor I deficiency (previously known as IFbase)
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

ELA2base: Mutation registry for Cyclic and congenital neutropenia
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

MPObase: Mutation registry for Myeloperoxidase deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

C1QAbase: Mutation registry for C1QA polypeptide deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

C1QBbase: Mutation registry for C1QB polypeptide deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

C1QCbase: Mutation registry for C1QC polypeptide deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

C1Sbase: Mutation registry for C1s deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

CD59base: Mutation registry for CD59 deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

CFDbase: Mutation registry for Factor D deficiency
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Stockholm
HUDDINGE

SCHWEIZ

Suisse Alémanique
BASEL

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

SERBIA

Serbia
BELGRADE

SPANIEN

Cataluńa
BARCELONA

Spanish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Hospital Universitari Vall d'Hebron
Servicio de Oncología y Hematología Pediátricas

SPANIEN

Cataluńa
BELLATERRA

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

TSCHECHISCHE REPUBLIK

Hradec Kralove
HRADEC KRÁLOVÉ

Czech severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Fakultní nemocnice Hradec Králové - CHU Hradec Králové
Oddeleni klinicke hematolgie - Department of clinical hematology

TURKEI

TURKEY
ANKARA

Turkish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
Ankara University - Faculty of medicine
Department of Pediatric Immunology-Allergy

UNGARN

Közép-Magyarország
DEBRECEN

Hungarian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
University of Debrecen
Department of children immunology and infectology

VEREINIGTES KONIGREICH

Greater London
LONDON

English severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)
University College London Hospitals, NHS Foundation Trust
Haematology and oncology department

VEREINIGTES KONIGREICH

Nottinghamshire
NOTTINGHAM

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

VEREINIGTES KONIGREICH

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

VEREINIGTES KONIGREICH

Tyne & Wear
NEWCASTLE UPON TYNE

The National Chronic Granulomatous Disease Registry
The Great North Children's Hospital, Royal Victoria Infirmary
Sir James Spence Institute of Child Health

VEREINIGTES KONIGREICH

West Yorkshire
LEEDS

BELGIEN

OOST-VLAANDEREN
GENT

I-DSD: International Disorders of Sex Development registry - Flanders contribution (Ghent university hospital)
Ghent University Hospital - UZ Gent
Het Centrum voor geslachtsontwikkeling [DSD team]

DEUTSCHLAND

Hessen
GIEßEN

Mutationsdatenbank Retina International: RAB27A-Gen
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DEUTSCHLAND

Hessen
GIEßEN

Mutationsdatenbank Retina International: AP3B1-Gen
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

DEUTSCHLAND

Nordrhein-Westfalen
MÜNSTER

PORTUGAL

NORTE
PORTO

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

GFI1base: Mutation registry for SCN and NI-CINA
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

ITGB2base: Mutation registry for Leukocyte adhesion deficiency I (LAD-I)
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

SCHWEDEN

Region Skĺne
LUND

TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

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

SCHWEDEN

Region Skĺne
LUND

MAPBPIPbase: Mutation registry for Endosomal adaptor protein p14 deficiency
Lund University
Department of Experimental Medical Science

DEUTSCHLAND

Rheinland-Pfalz
MAINZ

Deutsches Kinderkrebsregister (Eingebunden in das ACCIS-Projekt: Automated Childhood Cancer Information System, Mitglied von IACR und ENCR)
Institut für Medizinische Biometrie, Epidemiologie und Informatik (IMBEI)
Deutsches Kinderkrebsregister am IMBEI

SCHWEDEN

Region Skĺne
LUND

HAX1base: Mutation registry for Severe congenital neutropenia (Kostmann disease)
Lund University
Department of Experimental Medical Science

Netzwerke für Register und Biobanken

SPANIEN

Madrid
MADRID

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

    LIGURIA
    GENOVA

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

    Niedersachsen
    HANNOVER

    BMFS : Netzwerk für angeborene Störungen der Blutbildung (Patientenregister)
  • Medizinische Hochschule Hannover
  • Koordinationsstelle des Netzwerkes für angeborene Störungen der Blutbildung
  • ITALIEN

    LIGURIA
    GENOVA

    EUROFEVER: PReS European network of registries for autoinflammatoy diseases in childhood
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • U.O.C. di Pediatria II - I.A.S. Malattie Autoinfiammatorie
  • DEUTSCHLAND

    Niedersachsen
    HANNOVER

    SCNIR: Severe Chronic Neutropenia International Registry
  • Medizinische Hochschule Hannover
  • SCNIR - Europazentrale