Home›Search›Journal of Rare Diseases

Journal of Rare Diseases

Springer · Singapore

eISSN2731-085X

✓ DOAJ✓ Open Access

/ 100

High Risk

Score Breakdown

✓ DOAJ Verified+15

Total15

Aims & Scope✦ Inferred from recent articles

This journal focuses on rare diseases, encompassing genetic disorders, congenital anomalies, and rare subtypes of common diseases. Articles discuss diagnosis, clinical presentation, management challenges, and genetic underpinnings of conditions such as skeletal dysplasias, autoimmune encephalitis, and various syndromes affecting multiple organ systems. The scope also includes the development of diagnostic tools and the impact of global health initiatives on rare disease care.

AI-summarised from recent articles · verify on publisher page →

General Information

Country / RegionSingapore

Primary LanguageEnglish

1st Year Published—

StatusActive

Total Publications—

Publisher OrgSpringer Science+Business Media

Visit Journal Website

Submission Info

Peer ReviewAnonymous peer review

Review Time—

Acceptance Rate—

OA LicenseCC BY, CC BY-NC-ND

OA Rate—

Ethics & Quality

COPE Member✗ No

OASPA Member✗ No

Not on Predatory Lists✓ Yes

Think.Check.Submit Compliance

thinkchecksubmit.org

8/12 · 67%

✅

Do you know the journal / publisher?

Springer

✅

Does the journal have a website?

✓ Linked

✅

Is the ISSN verified?

2731-085X

✅

Indexed in a trusted database?

DOAJ

✅

Peer review process documented?

Anonymous peer review

❌

Follows ethical publishing standards (COPE)?

N/A

❌

APC fees clearly disclosed?

N/A

✅

Not on predatory/blacklists?

✓ Clean

❌

Long-term digital preservation?

N/A

❌

Plagiarism detection in place?

N/A

✅

Listed in DOAJ (verified OA)?

DOAJ verified

✅

Primary language documented?

English

Based on the Think.Check.Submit framework by DOAJ, COPE & OASPA. All data from verified open sources.

Subject Classification

Research Topics (OpenAlex)

Genomics and Rare DiseasesLysosomal Storage Disorders ResearchHealth Systems, Economic Evaluations, Quality of LifeParathyroid Disorders and TreatmentsMetabolism and Genetic DisordersConnective tissue disorders researchMitochondrial Function and PathologyGenetic Syndromes and ImprintingNeonatal Health and BiochemistryBiomedical Research and Pathophysiology