Orphanet
Names
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Orphanet
metasource: Fairsharing.org
version: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:57.269498
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
orphanet
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:57.269498
Names
More detailed information about this field from each metasource.
Orphanet
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:57.269498
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
orphanet
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:57.269498
Names
More detailed information about this field from each metasource.
Orphanet
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:57.269498
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
orphanet
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:57.269498
Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, including epidemiology and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems. Data available via http://www.orphadata.org/
Description
More detailed information about this field from each metasource.
Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, including epidemiology and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems. Data available via http://www.orphadata.org/
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
Orphanet is the reference resource for information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet maintains the Orphanet nomenclature, essential for interoperability, and the Orphanet Rare Disease Ontology (ORDO).
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
Information on rare diseases and orphan drugs.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:57.269498
Webpage:
www.orpha.netWebpage
More detailed information about this field from each metasource.
www.orpha.net
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
http://www.orpha.net/consor/cgi-bin/index.php?lng=EN
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
http://www.orpha.net/consor/cgi-bin/index.php
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:57.269498
Licence:
Name: Creative Commons Attribution v4.0Licence name
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Creative Commons Attribution v4.0
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
Creative Commons Attribution 4.0 International (CC BY 4.0)
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
Licence URL
More detailed information about this field from each metasource.
http://www.orphadata.org
metasource: BiŌkeanós-Medsourcingversion: 0.0.1:2022-11-04T13:34:25.975929
https://creativecommons.org/licenses/by/4.0/
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
Publications:
Publications
More detailed information about this field from each metasource.
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
PMID: 28099516
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
[Orphanet: a European database for rare diseases]
PMID: 18389888
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
[Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]
PMID: 19058507
metasource: Fairsharing.org
version: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
http://dx.doi.org/10.1002/humu.22078
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:57.269498
Publications
More detailed information about this field from each metasource.
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
PMID: 28099516
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
[Orphanet: a European database for rare diseases]
PMID: 18389888
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929
[Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]
PMID: 19058507
metasource: Fairsharing.org
version: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
http://dx.doi.org/10.1002/humu.22078
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:57.269498
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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
PubMed citations: 54.
54 articles citing: Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. PMID:35882841
Nordic treatment guidelines for rare epileptic conditions: A literature review. PMID:35765698
Network-Based Methods for Approaching Human Pathologies from a Phenotypic Point of View. PMID:35741843
Deep phenotyping: symptom annotation made simple with SAMS. PMID:35524573
Designing rare disease care pathways in the Republic of Ireland: a co-operative model. PMID:35410222
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease. PMID:35391505
Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives. PMID:35387391
Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA. PMID:35236367
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. PMID:35192731
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning. PMID:35063063
Facilitating Antiviral Drug Discovery Using Genetic and Evolutionary Knowledge. PMID:34834924
HFIP: an integrated multi-omics data and knowledge platform for the precision medicine of heart failure. PMID:34791105
Treatment Guidelines for Rare, Early-Onset, Treatment-Resistant Epileptic Conditions: A Literature Review on Dravet Syndrome, Lennox-Gastaut Syndrome and CDKL5 Deficiency Disorder. PMID:34759881
The Human Disease Ontology 2022 update. PMID:34755882
A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases. PMID:34751921
An Objective Approach to Identify Priority Rare Diseases for the Development of Solutions Reducing the Diagnostic Delay Based on French Data. PMID:34744718
Natural products for infectious microbes and diseases: an overview of sources, compounds, and chemical diversities. PMID:34705221
Compendium of causative genes and their encoded proteins for common monogenic disorders. PMID:34515378
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer. PMID:34442375
A global map of associations between types of protein posttranslational modifications and human genetic diseases. PMID:34430807
Pharmacotherapeutic Patterns and Patients' Access to Pharmacotherapy for Some Rare Diseases in Bulgaria - A Pilot Comparative Study. PMID:34349654
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. PMID:34240408
Intra-database validation of case-identifying algorithms using reconstituted electronic health records from healthcare claims data. PMID:33933001
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders. PMID:33849535
Towards similarity-based differential diagnostics for common diseases. PMID:33836447
Whole Genome Interpretation for a Family of Five. PMID:33763108
Rare disease care pathways in the EU: from odysseys and labyrinths towards highways. PMID:33738760
European Reference Networks: challenges and opportunities. PMID:33733400
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease. PMID:33521598
The European Reference Network for Rare Neurological Diseases. PMID:33519696
Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study. PMID:33480849
Improving diagnostics of rare genetic diseases with NGS approaches. PMID:33452619
Progress, Challenges, and Surprises in Annotating the Human Genome. PMID:32421357
Towards the routine use of in silico screenings for drug discovery using metabolic modelling. PMID:32369553
Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments. PMID:32259080
ncRPheno: a comprehensive database platform for identification and validation of disease related noncoding RNAs. PMID:32122231
Incremental data integration for tracking genotype-disease associations. PMID:31986132
GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining. PMID:31856831
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:31701156
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases. PMID:31494632
PhenPath: a tool for characterizing biological functions underlying different phenotypes. PMID:31307376
Exploring the druggable space around the Fanconi anemia pathway using machine learning and mechanistic models. PMID:31266445
Research activity and capability in the European reference network MetabERN. PMID:31142374
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum. PMID:31103025
Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases. PMID:30945166
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar. PMID:30937429
Measuring the importance of vertices in the weighted human disease network. PMID:30901770
RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis. PMID:30564269
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. PMID:30407536
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
Measuring coverage and accuracy of whole-exome sequencing in clinical context. PMID:29789557
Improved ontology-based similarity calculations using a study-wise annotation model. PMID:29688377
eRAM: encyclopedia of rare disease annotations for precision medicine. PMID:29106618 -
[Orphanet: a European database for rare diseases]
PubMed citations: 38.
38 articles citing: [Orphanet: a European database for rare diseases]
The Utility of Small Fishes for the Genetic Study of Human Age-Related Disorders. PMID:35910227
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care. PMID:35902925
Humanized yeast to model human biology, disease and evolution. PMID:35661208
A clinician's guide to omics resources in dermatology. PMID:35104371
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records. PMID:34440331
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review. PMID:34439912
PhenCards: a data resource linking human phenotype information to biomedical knowledge. PMID:34034817
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. PMID:33439542
A network-based machine-learning framework to identify both functional modules and disease genes. PMID:33409574
Pathway Maps of Orphan and Complex Diseases Using an Integrative Computational Approach. PMID:33376724
DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier. PMID:33206638
An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD). PMID:33183351
Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study. PMID:33006565
Enabling ad-hoc reuse of private data repositories through schema extraction. PMID:32641124
DDIEM: drug database for inborn errors of metabolism. PMID:32527280
Identification of genes and miRNA associated with idiopathic recurrent pregnancy loss: an exploratory data mining study. PMID:32487076
TarGo: network based target gene selection system for human disease related mouse models. PMID:32257911
Mapping the perturbome network of cellular perturbations. PMID:31723137
HPO-Shuffle: an associated gene prioritization strategy and its application in drug repurposing for the treatment of canine epilepsy. PMID:31427480
Analysis of disease organ as a novel phenotype towards disease genetics understanding. PMID:31207382
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach. PMID:30626929
VarAFT: a variant annotation and filtration system for human next generation sequencing data. PMID:29860484
Phenotypic Analysis of Clinical Narratives Using Human Phenotype Ontology. PMID:29295162
A non-negative matrix factorization based method for predicting disease-associated miRNAs in miRNA-disease bilayer network. PMID:28968753
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. PMID:28864117
Recent advances in predicting gene-disease associations. PMID:28529714
Gene ORGANizer: linking genes to the organs they affect. PMID:28444223
The anatomy of phenotype ontologies: principles, properties and applications. PMID:28387809
Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases. PMID:26051359
Similarity-based search of model organism, disease and drug effect phenotypes. PMID:25763178
An integrative, translational approach to understanding rare and orphan genetically based diseases. PMID:23853703
Development of korean rare disease knowledge base. PMID:23346478
Computational tools for comparative phenomics: the role and promise of ontologies. PMID:22814867
Improving disease gene prioritization by comparing the semantic similarity of phenotypes in mice with those of human diseases. PMID:22719993
Guidelines for the genetic diagnosis of hereditary recurrent fevers. PMID:22661645
Mouse genetic and phenotypic resources for human genetics. PMID:22422677
New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models. PMID:21987712
genenames.org: the HGNC resources in 2011. PMID:20929869 -
[Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]
PubMed citations: 2.
2 articles citing: [Orphanet and the Dutch Steering Committee Orphan Drugs. A European and Dutch databank of information on rare diseases]
Exploring Rare Diseases in South Africa, a Personal Journey: Time for Electronic Record-keeping. PMID:27144070
The Structural Biology Knowledgebase: a portal to protein structures, sequences, functions, and methods. PMID:21472436 - http://dx.doi.org/10.1002/humu.22078
Tags:
Tags
More detailed information about this field from each metasource.
disease
metasource: Fairsharing.org
version: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
drug
metasource: Fairsharing.org
version: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
rare disease
metasource: Fairsharing.org
version: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
small molecules
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:57.269498
pathology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:57.269498
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:57.269498
Tags
More detailed information about this field from each metasource.
disease
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
drug
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
rare disease
metasource: Fairsharing.orgversion: FAIRsharing.org: Orphanet; Orphanet; DOI: https://doi.org/10.25504/FAIRsharing.6bd5k6; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Jan 03 2022 7:06 p.m.
small molecules
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:57.269498
pathology
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:57.269498
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:29:57.269498
disease drug rare disease small molecule pathology rare diseases
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