Orphanet Journal of Rare Diseases

Published by BMC

Open access · CC BY · In DOAJ · United Kingdom · Genomics and Rare Diseases

Journal at a glance

ISSN

1750-1172

Publisher

BMC

Country

United Kingdom

Language

en

License

CC BY

Also known as: Orphanet J Rare Dis (Abbreviation), OJRD (Alternate title)

Indexing

• Web of Science (SCIE): Indexed
• Scopus: Indexed
• DOAJ: Active
• Medline: Active
• Pubmed: Active

Metrics

Subjects

• Genomics and Rare Diseases
• Lysosomal Storage Disorders Research
• Metabolism and Genetic Disorders
• Glycogen Storage Diseases and Myoclonus
• Health Systems, Economic Evaluations, Quality of Life
• Connective tissue disorders research
• Neurogenetic and Muscular Disorders Research
• Medicine

Articles on PubPorta

The most recent records PubPorta holds for this journal.

• Harmonizing gene nomenclature and disease classification for ADSS1 myopathy (2026)
• Paediatric palliative approach in the era of disease modifying therapies in spinal muscular atrophy — a comprehensive landscape of French specialist physicians’ perspectives (2026)
• Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges (2026)
• Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet–Biedl Syndrome: a pilot study (2026)
• Reimbursement status, access delays and prices of orphan drugs in France: a population-stratified analysis of indications approved between 2021 and 2024 (2026)

Similar journals

• Intractable & rare diseases research — Japan · Open access · Same subject: Connective tissue disorders research, Same subject: Genomics and Rare Diseases, 4 shared subjects in total
• Journal of inborn errors of metabolism and screening — Brazil · Open access · Same subject: Glycogen Storage Diseases and Myoclonus, Same subject: Lysosomal Storage Disorders Research, 3 shared subjects in total
• Human genome variation — United Kingdom · Open access · Same subject: Connective tissue disorders research, Same subject: Genomics and Rare Diseases, Same country
• Paediatric and perinatal drug therapy — United Kingdom · — · Same subject: Health Systems, Economic Evaluations, Quality of Life, Same subject: Metabolism and Genetic Disorders, Same country
• Human mutation — United States · — · Same subject: Genomics and Rare Diseases, Same subject: Metabolism and Genetic Disorders
• Journal of pediatric genetics — Kingdom of the Netherlands · — · Same subject: Connective tissue disorders research, Same subject: Genomics and Rare Diseases

Sources: DOAJ, OpenAlex, NLM Catalog, Crossref, Web of Science (Clarivate), Scopus · Last verified 2026-09-05

Journal homepage · Author guidelines