Some reference links

• Ambulatorio delle Malattie Rare Congenito-Malformative Non Diagnosticate
  Policlinico di Sant’Orsola-Malpighi, Bologna (last access: May 6, 2020)
• Centro Nazionale Malattie Rare / National Centre for Rare diseases
• ClinVar
• European Joint Programme on Rare Diseases (EJP RD)
• European Platform on Rare Disease Registration (EU RD Platform)
• European Reference Networks
• EuroQol (EQ-5D)
• EURORDIS – Rare Diseases Europe
• GeneMatcher
• Genome Aggregation Database (gnomAD)
• IRdiRC – International Rare Diseases Research Consortium
• MEDLINE®
• National Library of Medicine
• Online Mendelian Inheritance In Man® (OMIM)
• Orphanet
• PubMed
• Rare Diseases Registry Program (RaDaR)
• Reti di riferimento europee – ERN (Italian web page) / European Reference Networks (EU general web page)
• Single Nucleotide Polymorphism Database (dbSNP)
• Social Economic Burden and Health-Related Quality of Life
  in Patients with Rare Diseases in Europe (BURQoL-RD)
• UNIAMO – Federazione delle Associazioni di Persone con Malattie Rare d’Italia (available only in Italian)

Accessed on April 12, 2023