Orphanet Rare Diseases Ontology
Created in 2012
How to cite this record FAIRsharing.org: ORDO; Orphanet Rare Diseases Ontology; DOI: https://doi.org/10.25504/FAIRsharing.pbbnwa; Last edited: Feb. 21, 2019, 2:50 p.m.; Last accessed: Sep 16 2019 11:03 a.m.
Record updated: Feb. 21, 2019, 2:27 p.m. by CharlotteRodwell.
Edits to 'https://fairsharing.org/FAIRsharing.pbbnwa' by 'CharlotteRodwell' at 14:27, 21 Feb 2019 (approved): 'licences' has been modified: Before: Creative Commons Attribution-NoDerivs 3.0 Unported (CC BY-ND 3.0)|https://creativecommons.org/licenses/by-nd/3.0/|Data After: Creative Commons Attribution 4.0 International (CC BY 4.0)|https://creativecommons.org/licenses/by/4.0/|Data Added: Creative Commons Attribution 4.0 International (CC BY 4.0)|https://creativecommons.org/licenses/by/4.0/|Data Removed: Creative Commons Attribution-NoDerivs 3.0 Unported (CC BY-ND 3.0)|https://creativecommons.org/licenses/by-nd/3.0/|Data 'miriam_id' has been modified: Before: None After:
Edits to 'https://fairsharing.org/FAIRsharing.pbbnwa' by 'The FAIRsharing Team' at 13:07, 04 Nov 2016 (approved): 'homepage' has been modified: Before: http://bioportal.bioontology.org/ontologies/ORDO After: http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php
No XSD schemas defined
Conditions of UseApplies to: Data use
Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM.
Aime X,Charlet J,Furst F,Kuntz P,Trichet F,Dhombres F
Stud Health Technol Inform 2012
View in BioPortal.
No guidelines defined
Models and Formats
No identifier schema standards defined
No metrics standards defined
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).
DisGeNET: a knowledge base for disease genomics
DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific literature, and covers the whole landscape of human diseases. The current version of DisGeNET (v 6.0) contains 628,685 gene-disease associations (GDAs), between 17,549 genes and 24,166 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 210,498 variant-disease associations (VDAs), between 117,337 variants and 10,358 diseases, traits, and phenotypes. The data are homogeneously annotated with controlled vocabularies and community-driven ontologies. Additionally, several original metrics are provided to assist the prioritization of genotype-phenotype relationships. The information is accessible through a web interface, a Cytoscape App, an RDF SPARQL endpoint, a REST API, and an R package.
Orphadata provides the scientific community with comprehensive, quality datasets related to rare diseases and orphan drugs from the Orphanet knowledge base, in reusable formats.
This record is not implemented by any policy.
This record is maintained by CharlotteRodwell
European Union (EU) (Government body)