Aims and Scope of Orphanet Journal of Rare Diseases
The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and the editor-in-chief is Francesc Palau (Hospital Sant Joan de Déu Barcelona and CIBERER, Spain). It is an official journal of Orphanet and is published by BioMed Central, which is part of Springer Nature. Less
Key Metrics
CiteScore 

5.2
Eigenfactor 

0.01 - 0.05
Impact Factor 

< 5
Scite Index 

0.89 5-Year SI

SJR 

Q2Genetics (clinical)

SNIP 

1.78
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Orphanet Journal of Rare Diseases Journal Specifications
Indexed in the following public directories
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SJR
| Overview | |
| Publisher | BMC |
| Language | English |
| Frequency | Continuous publication |
| Article Processing Charges | EUR 2290 | USD 2790 | GBP 1990 |
| Publication Time | 16 |
| Editorial Review Process | Anonymous peer review |
| General Details | |
| Language | English |
| Society/Institute/Sponsor | Orphanet |
| Frequency | Continuous publication |
| Publication Start Year | 2006 |
| Publisher URL | Visit website |
| Website URL | Visit website |
| Publication Details | |
| Editorial Review Detail | |
| Information for authors | |
| Author instructions | Visit website |
| Copyright Details | Visit website |
| Deposit Policy | Sherpa/Romeo |
| License type | CC BY, CC0 |
| OA statement | Visit website |
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Recently Published Papers in Orphanet Journal of Rare Diseases
Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities.
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Correction: Randomized investigation to evaluate phenylalanine fluctuation after overnight fasting in PKU patients treated with prolonged-release versus standard amino acid protein substitute.
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Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities.
- 7 Aug 2026
- Orphanet journal of rare diseases
Correction to: Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study
- 7 Aug 2026
- Orphanet Journal of Rare Diseases
Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet\u2013Biedl Syndrome: a pilot study
- 6 Aug 2026
- Orphanet Journal of Rare Diseases
Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study
- 3 Aug 2026
- Orphanet Journal of Rare Diseases
Management of patients with rare diseases in the Middle East: challenges & opportunities - insights from the Rare Advocacy Council.
- 31 Jul 2026
- Orphanet journal of rare diseases
Correction: Randomized investigation to evaluate phenylalanine fluctuation after overnight fasting in PKU patients treated with prolonged-release versus standard amino acid protein substitute.
- 31 Jul 2026
- Orphanet journal of rare diseases