ArticlePloS one2017
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
106 citing papers in PubMed, 6 syntheses or guidelines pooled it, 215 citations in OpenAlex.
- Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.Orphanet journal of rare diseases · 2025Pooled it
- A critical assessment of Traditional Chinese Medicine databases as a source for drug discovery.Frontiers in pharmacology · 2024Pooled it
- Barriers and facilitators to the implementation of guidelines in rare diseases: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.The Journal of allergy and clinical immunology · 2022Pooled it
- Treatment Guidelines for Rare, Early-Onset, Treatment-Resistant Epileptic Conditions: A Literature Review on Dravet Syndrome, Lennox-Gastaut Syndrome and CDKL5 Deficiency Disorder.Frontiers in neurology · 2021Pooled it
- Computational resources associating diseases with genotypes, phenotypes and exposures.Briefings in bioinformatics · 2019Pooled it
- Decentralized rare disease studies in Germany: first results and hurdles of secondary use of patient data.BMC medical informatics and decision making · 2026Article
- Benchmarking the impact of data leakage on the performance of knowledge graph embedding models for biomedical link prediction.Bioinformatics (Oxford, England) · 2026Article
- Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing.International journal of molecular sciences · 2026Article
- Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?Clinical and public health guidelines · 2026Article
- Reframing AI for Rare Disease Recognition.Research square · 2026Article
- GEN-KnowRD: Reframing AI for Rare Disease Recognition.medRxiv : the preprint server for health sciences · 2026Article
- From genes to trajectories: mapping genetic influences on Huntington's disease progression.Bioinformatics (Oxford, England) · 2026Article
- Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.Nucleic acids research · 2026Article
- A methodological framework for real-world performance studies of clinical variant classification platforms at early organizational stages.Frontiers in genetics · 2026Article
- Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.International journal of molecular sciences · 2025Review
- Information content as a health system screening tool for rare diseases.NPJ digital medicine · 2025Article
- Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.American journal of medical genetics. Part A · 2025Article
- Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases.NPJ digital medicine · 2025Article
- Health-related quality of life and productivity burden for non-professional caregivers of adults with rare diseases: a real-world study.Orphanet journal of rare diseases · 2025Article
46 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs. This article provides an analysis of selected CPGs by medical domain coverage, prevalence of diseases, languages and type of producer, and addresses the variability in CPG quality and availability. CPGs are identified via bibliographic databases, websites of research networks, expert centres or medical societies. They are assessed according to quality criteria derived from the Appraisal of Guidelines, REsearch and Evaluation (AGREE II) Instrument. Only open access CPGs and documents for which permission from the copyright holders has been obtained are disseminated on the Orphanet website. From January 2012 to July 2015, 277 CPGs were disseminated, representing coverage of 1,122 groups of diseases, diseases or subtypes in the Orphanet database. No language restriction is applied, and so far 10 languages are represented, with a predominance of CPGs in English, French and German (92% of all CPGs). A large proportion of diseases with identified CPGs belong to rare oncologic, neurologic, hematologic diseases or developmental anomalies. The Orphanet project on CPG collection, evaluation and dissemination is a continuous process, with regular addition of new guidelines, and updates. CPGs meeting the quality criteria are integrated to the Orphanet database of rare diseases, together with other types of textual information and the appropriate services for patients, researchers and healthcare professionals in 40 countries.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.