SCIESCOPUSQ2
Orphanet Journal of Rare Diseases
BMC, United Kingdom
Orphanet Journal of Rare Diseases is an academic journal published by BMC (United Kingdom). Identifiers: eISSN 1750-1172. Indexed in SCIE, SCOPUS. Metrics: JIF 3.5, CiteScore 6.2, SJR 1.269, SNIP 1.57. Subject areas: GENETICS & HEREDITY, MEDICINE, MEDICINE, RESEARCH & EXPERIMENTAL, RESEARCH & EXPERIMENTAL. tlooto lists 6,034 papers from this journal.
CiteScore
6.20
Scopus citation metric
SJR
1.269
SCImago rank
SNIP
1.57
Source normalized impact
Percentage rank
-
JIF percentile rank
Journal profile
- ISSN
- -
- eISSN
- 1750-1172
- Abbreviation
- ORPHANET J RARE DIS
- Publisher
- BMC
- Country
- United Kingdom
Web of Science categories
SCIEGENETICS & HEREDITY, MEDICINE, RESEARCH & EXPERIMENTAL
Scopus ASJC categories
2716 Genetics (clinical)2736 Pharmacology (medical)
Keywords
Genetics & Heredity | Medicine, Research & Experimental
Papers in this journal
Recent papers
- Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II.
2026
- Adverse events of givosiran in the treatment of acute hepatic porphyria: a pharmacovigilance study using the FAERS and VigiAccess databases.
2026
- "Let it be as it is": between shock and acceptance - emotional, identity, and cognitive responses to the diagnosis of neurofibromatosis type1.
2026
- KLINSE: a comprehensive service model for rare disease information and care management support
2026
- Living-donor liver transplantation in children with inherited metabolic and genetic cholestatic liver diseases: a single-center retrospective cohort study
2026
Most cited papers
- Celiac disease
2006 · 2,594 citations
- Pulmonary arterial hypertension
2013 · 1,578 citations
- Huntington's disease: a clinical review
2010 · 1,269 citations
- Beta-thalassemia
2010 · 925 citations
- Niemann-Pick disease type C
2010 · 919 citations