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Orphanet
Orphanet consortium (INSERM-led, co-funded by the EU)
Reference portal giving a short summary, prevalence, classification and links to expert centres and patient groups for each rare disease.
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Search the rare disease resources
Each database opens in a new tab. If your browser blocks this, the search opens in this tab instead.
Use with care. These are reference sources for professionals, maintained by their publishers; we link to them and do not summarise or endorse their content. For an individual patient, discuss with your clinical genetics service or the relevant European Reference Network. For anaesthesia, OrphanAnesthesia recommendations are written for anaesthetists and should be read by the anaesthetic team.
Overview3
overviewFree
NORD Rare Disease Database
National Organization for Rare Disorders (USA)
Searchable database of rare disease reports describing symptoms, causes, diagnosis, treatment and support organisations, drawing on MONDO, Orphanet and OMIM.
Open →Source checked
overviewFree
MedlinePlus Genetics
US National Library of Medicine (NIH)
Plain-language summaries of over 1,300 genetic conditions and 1,400 genes, useful for explaining a diagnosis to patients and families.
Open →Source checked
Expert centres3
expert centresFree
European Reference Networks (ERN) directory
European Commission (DG SANTE)
Official list of the 24 ERNs with links to each network, downloadable member lists and a search tool for member hospitals by network and country.
Open →Source checked
expert centresFree
ERN BOND
European Reference Network on rare bone diseases (coordinated by Istituto Ortopedico Rizzoli, Bologna)
EU network of specialist centres for rare bone diseases, aiming to speed diagnosis and share expertise on skeletal conditions.
Open →Source checked
expert centresFree
ERN ITHACA
European Reference Network for rare malformation syndromes and intellectual and neurodevelopmental disorders
EU network of expert centres for rare congenital malformation syndromes and neurodevelopmental disorders, many of which involve the spine.
Open →Source checked
Genetics4
geneticsFree
OMIM (Online Mendelian Inheritance in Man)
Johns Hopkins University
Catalogue of human genes and Mendelian disorders with detailed clinical synopses and the genetic basis of each condition.
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geneticsFree
GeneCards
Weizmann Institute of Science / LifeMap Sciences
Integrated database pulling together information on each human gene from nearly 200 sources, including disease associations.
Open →Source checked
geneticsFree
DECIPHER
EMBL-EBI (Wellcome Genome Campus, UK)
Clinical genomics database where clinicians share and compare rare genomic variants with patient phenotypes.
Open →Source checked
geneticsFree
Nosology of Genetic Skeletal Disorders (2023 revision)
International Skeletal Dysplasia Society; Unger S et al., Am J Med Genet A 2023 (PMID 36779427, doi:10.1002/ajmg.a.63132)
The standard classification of genetic skeletal disorders by gene and group; the ISDS page adds a searchable table with OMIM links and the open-access PDF.
Open →Source checked
Clinical review1
clinical reviewFree
GeneReviews
University of Washington, hosted on NCBI Bookshelf (NIH)
Expert-authored, peer-reviewed clinical reviews of individual genetic conditions covering diagnosis, management and genetic counselling.
Open →Link not yet verified
Anaesthesia1
anaesthesiaFree
OrphanAnesthesia
German Society of Anaesthesiology and Intensive Care Medicine (DGAI) with Orphanet and the European Society of Paediatric Anaesthesiology
Peer-reviewed anaesthesia recommendations for patients with rare diseases, freely downloadable and citable via the journal Anästhesiologie & Intensivmedizin.
Open →Source checked
Literature1
Patient groups2
patient groupsFree
GARD (Genetic and Rare Diseases Information Center)
NCATS, US National Institutes of Health
Plain-language information on thousands of rare diseases, with links to patient organisations and a contact service for questions.
Open →Source checked
patient groupsFree
Unique – Rare Chromosome Disorder Support Group
Unique (UK registered charity 1110661)
Support charity offering free family-friendly guides on specific chromosome changes and gene variants, plus a helpline.
Open →Source checked
Where to report a rare case
There is no single worldwide register for rare cases. Depending on the country and the question, a clinician may notify a national registry, seek an expert opinion through a European Reference Network or a national centre for rare diseases, share genotype and phenotype data in a matching service, refer the patient to an undiagnosed-diseases programme, or publish a case report. Most routes that share identifiable clinical information require the patient's consent; statutory national registries are the main exception.
Share patient information only with the patient's consent and through the service's own secure route; never by ordinary email.
International
BMJ Case Reports
A journal publishing common and rare cases with substantial novel learning value.
How to use it
- How
- The corresponding author must be or become a Fellow (individual or institutional); up to four authors, including the lead clinician; case series of more than three patients generally not accepted.
- Consent
- Explicit consent of the patient or legal guardian is required, signed after the patient has seen and approved the manuscript; the journal will not consider a manuscript without consent.
Optional open access carries a separate fee (GBP 499 excluding VAT for UK and EU authors).
Official page →Source checked
International
CARE guidelines for case reports
A reporting standard with a 13-item checklist for case reports, endorsed by many journals.
How to use it
- How
- Follow the checklist when writing a case report; items include a timeline, the patient's perspective and informed consent.
- Consent
- Checklist item 13: 'The patient should give informed consent.'
Official page →Source checked
International
DECIPHER
A database that helps the clinical community share and compare human genome variants and phenotypes.
How to use it
- How
- Clinicians apply through the site's Join page and then share and compare patient variants and phenotypes with other users; eligibility is not set out on the pages opened.
- Consent
- The site provides consent, assent and family forms and a data-sharing policy; the requirements are not set out on the pages opened.
Joining arrangements and consent rules should be checked in the data-sharing policy and ethical framework.
Official page →Source checked
International
GeneMatcher
A free website connecting clinicians, researchers, patients and families who share an interest in the same gene.
How to use it
- How
- Register, then submit a gene symbol or base-pair position, optionally with variants and clinical features; submitters are emailed when a match occurs. Other matchmakers can be queried via the Matchmaker Exchange.
- Consent
- Not stated; the database does not collect identifiable data and use is governed by an end-user licence agreement.
Useful after exome or genome sequencing with a candidate gene.
Official page →Source checked
International
Matchmaker Exchange
A federated platform, launched in 2013, linking matchmaking databases through standard interfaces to match cases with similar phenotypic and genotypic profiles.
How to use it
- How
- A clinician or laboratory submits the case to one of the connected databases (nodes), which then searches the others.
- Consent
- The site publishes an informed consent policy document; its content is not summarised on the homepage.
Official page →Source checked
International
Orphanet directory of expert centres
Orphanet's directory of expert centres and professionals for rare diseases.
How to use it
- How
- Search the directory by disease to find an expert centre to refer to or seek advice from.
- Consent
- Not stated.
Official page →Not yet confirmed
International
Undiagnosed Diseases Network International (UDNI)
An international network that aims to improve diagnosis and care for undiagnosed diseases through common protocols and shared data.
How to use it
- How
- Clinical investigators from any country can apply for membership and are expected to contribute five undiagnosed cases; patients can apply online with a referral letter from a licensed healthcare provider.
- Consent
- Patients should consent to share their data with other investigators in the group; return of results follows site-specific consent forms.
Candidates should already have been extensively investigated.
Official page →Source checked
Europe
ERN BOND (rare bone diseases) and CPMS 2.0
The European Reference Network for rare bone diseases. Cases are discussed with its experts in CPMS 2.0, the ERNs' secure case-discussion platform.
How to use it
- How
- ERN BOND members log in to CPMS 2.0 with an EU Login, add the patient and open a discussion with experts. Healthcare professionals who are not members can request access as 'Non-ERN Clinicians', can be invited to a panel discussion, or can contact the BOND Operational Helpdesk (cpmshelpdesk@bond.ern-net.eu) to seek international expert input.
- Consent
- Not stated on the ERN BOND CPMS page, which says only that data are handled under privacy rules; the European Commission states that ERN consultation requires the patient's consent.
Official page →Source checked
Europe
ERN ITHACA (rare malformation syndromes, intellectual and neurodevelopmental disorders)
The European Reference Network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders; its workgroups include spina bifida and other dysraphisms, and it hosts the ILIAD registry.
How to use it
- How
- Case discussions run through CPMS 2.0; the site links to CPMS 2.0 and to a list of expert centres.
- Consent
- Not stated on the homepage; the European Commission states that ERN consultation requires the patient's consent.
The homepage does not describe the referral steps or what the ILIAD registry collects.
Official page →Source checked
Europe
EuRREB registries (including EuRR-Bone)
European Registries for Rare Endocrine and Bone Conditions, formed by merging EuRRECa and EuRR-Bone; collects data through patient-centred registries to support research on rare endocrine, bone and mineral conditions. ERN BOND lists disease themes including fibrous dysplasia/McCune-Albright syndrome, X-linked hypophosphataemic rickets, osteogenesis imperfecta and achondroplasia.
How to use it
- How
- Centres can join as a participating centre ('Join as new centre'); questions go to registries@lumc.nl or to regular online drop-in sessions.
- Consent
- The site provides patient information folders and consent forms; the homepage does not set out the requirements.
Eligibility rules for participating centres are not stated on the homepage.
Official page →Source checked
Europe
European Platform on Rare Disease Registration (EU RD Platform) and ERDRI
A central access point for information on rare disease patient registries. Its infrastructure, ERDRI, includes a directory of registries, a metadata repository, a pseudonymisation tool and a search broker.
How to use it
- How
- Used to find which registry exists for a condition; it is not a route for submitting an individual case. Registry owners enter their registry information.
- Consent
- Not stated.
Useful for locating a disease-specific registry, which then has its own enrolment and consent rules.
Official page →Source checked
Europe
European Reference Networks (ERNs)
24 cross-border networks of hospital centres of expertise for rare, low-prevalence and complex conditions; as of October 2025 they included 1,606 specialised centres in 375 hospitals across the 27 EU Member States and Norway.
How to use it
- How
- Individual patients cannot access ERNs directly. A healthcare provider can consult an ERN member, under national health rules; virtual expert discussions of a case take place in the Clinical Patient Management System (CPMS 2.0). A public search tool lists members, centres and countries.
- Consent
- Information may be exchanged with an ERN member only with the patient's consent.
The European Commission page does not set out a formal referral pathway; the procedure is described on each network's own site.
Official page →Source checked
United Kingdom
CARDRISS (Congenital and Rare Conditions Registry Service for Scotland)
Public Health Scotland's register of babies with major structural or chromosomal conditions or recognised syndromes, using EUROCAT inclusion criteria.
How to use it
- How
- Enquiries to phs.cardriss@phs.scot; the published page does not describe a notification process for clinicians.
- Consent
- Not stated.
Official page →Source checked
United Kingdom
CARIS (Congenital Anomaly Register and Information Service for Wales)
Public Health Wales's register providing data on congenital anomalies and rare diseases in Wales.
How to use it
- How
- Anyone in the health service who knows of a congenital anomaly case (up to age 18) can report it by email (with NHS number, date of delivery and possible diagnosis), by e-Alert, by warning card or on the CARIS data form; each unit has a CARIS co-ordinator.
- Consent
- Not stated.
Official page →Source checked
United Kingdom
National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), National Disease Registration Service
Records people with congenital anomalies (for example spina bifida) and rare diseases (affecting no more than one person in 2,000) across England, to monitor frequency, causes and outcomes and to support research and planning.
How to use it
- How
- Clinicians and NHS organisations send data under NDRS 'Guidance for notifiers'; patients do not need to register themselves because NDRS collects the data directly from the NHS.
- Consent
- Consent is not required: NDRS has special permission to collect these data. It is not part of the national data opt-out; patients can opt out directly with NDRS.
Official page →Source checked
Germany
NAMSE (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen)
National coordination and communication body that links researchers and physicians and compiles information for doctors and patients; it oversees the centre model, including a recognition procedure for Type B centres.
How to use it
- How
- Information hub rather than a reporting route; points to se-atlas and Orphanet to find care and expertise.
- Consent
- Not stated.
Official page →Source checked
Germany
se-atlas and the Zentren für Seltene Erkrankungen (ZSE)
se-atlas maps care for rare diseases in Germany: centres for rare diseases, European and German reference networks, specialised facilities, experts and patient organisations. The ZSE are contact points for patients and their treating physicians for unclear or confirmed diagnoses.
How to use it
- How
- Use the centres map to find a suitable ZSE, especially when the diagnosis is still unknown, and contact it directly.
- Consent
- Not stated.
Run by the Institut für Medizininformatik, Universitätsklinikum Frankfurt, with ACHSE e.V.; a listing does not imply certification or recognition.
Official page →Source checked
Switzerland
Schweizer Register für seltene Krankheiten (SRSK, Swiss Rare Disease Registry)
National register collecting data from people with rare diseases across Switzerland, based at the Institute of Social and Preventive Medicine, University of Bern, under kosek patronage since 2017.
How to use it
- How
- Registration documents for patients and professionals are provided on the register's own website.
- Consent
- Not stated on the kosek page.
Official page →Source checked
Switzerland
kosek networks and reference centres (including SG BOND)
kosek (National Coordination Rare Diseases) recognises reference centres within disease networks; 42 were recognised in February 2026. SG BOND coordinates care for people with rare bone diseases and rare non-inflammatory connective tissue diseases.
How to use it
- How
- Contact the relevant network or reference centre listed by kosek, or kosek itself; a formal referral process is not described.
- Consent
- Not stated.
The SG BOND contact email on the kosek page is inconsistent (displayed and linked addresses differ); check before publishing.
Official page →Source checked
France
BNDMR (Banque Nationale de Données Maladies Rares) and BaMaRa
France's national rare disease data bank, fed from the BaMaRa application used in the rare disease centres.
How to use it
- How
- Data are entered by the French rare disease reference and competence centres.
- Consent
- Not confirmed on the official site.
Official page →Not yet confirmed
France
Filière OSCAR (rare diseases of bone, calcium and cartilage)
The French national rare disease network (filière de santé maladies rares) for calcium and phosphate disorders, fibrous dysplasia of bone, constitutional bone diseases and non-vascular Ehlers-Danlos syndromes.
How to use it
- How
- Use 'Trouver un centre de soin' to locate a centre; multidisciplinary meetings (RCP) are listed as a tool for professionals.
- Consent
- Not stated.
Official page →Source checked
United States
Genetic and Rare Diseases Information Center (GARD), NIH
A free NIH information service on rare diseases, including finding a diagnosis, disease experts, patient organisations and clinical studies.
How to use it
- How
- Information only; questions can be sent via the 'Ask a GARD Specialist' form. It does not state that it accepts case reports.
- Consent
- Not applicable.
Official page →Source checked
United States
IAMRARE Program (NORD)
NORD's platform for natural history patient registries for rare diseases, built with input from the FDA, NIH, patients and organisations.
How to use it
- How
- Patients and patient organisations launch or join disease-specific registries; a clinician role is not described.
- Consent
- Not stated.
Mainly a patient- and organisation-led route rather than a clinician reporting route.
Official page →Source checked
United States
Rare Diseases Clinical Research Network (RDCRN)
An NIH-funded network of consortia studying nearly 200 rare diseases, led by NCATS.
How to use it
- How
- Patients and families can join the Contact Registry to hear about research studies; the network does not generally support clinical care outside research.
- Consent
- Not stated; handled by individual studies.
Relevant only if the condition is one the consortia study.
Official page →Source checked
United States
Undiagnosed Diseases Network (UDN)
An NIH-funded research study that brings clinical and research experts together to work on difficult undiagnosed cases.
How to use it
- How
- The patient (or family) submits the case through the UDN Gateway; a study recommendation letter from a healthcare provider (not a relative) is required, covering the medical problems, onset, prior tests, treatments, family history and the provider's impressions. A decision on further evaluation typically takes 6 to 8 weeks once records are complete.
- Consent
- Not stated on the application page.
Contact UDN@hms.harvard.edu.
Official page →Source checked
Canada
Care4Rare Canada
A collaboration of clinicians and scientists at 21 Canadian academic sites, led from the CHEO Research Institute, working to improve diagnosis of rare genetic diseases.
How to use it
- How
- A referral process is not described on the homepage; contact care4rare@cheo.on.ca.
- Consent
- Not stated.
Official page →Source checked
Australia
Rare Voices Australia
The national peak body for Australians living with a rare disease; links to the National Strategic Action Plan for Rare Diseases, the RARE Portal and a rare disease directory.
How to use it
- How
- Patient-facing; not a clinician reporting route.
- Consent
- Not applicable.
Official page →Source checked