Orphanet Rare Diseases Ontology
Created in 2012
Knowledge Domains BETA
How to cite this record FAIRsharing.org: ORDO; Orphanet Rare Diseases Ontology; DOI: https://doi.org/10.25504/FAIRsharing.pbbnwa; Last edited: Jan. 8, 2019, 1:29 p.m.; Last accessed: Jan 16 2019 3:52 p.m.
Record updated: July 11, 2017, 10:44 a.m. by The FAIRsharing Team.
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
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 database of gene-disease associations
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 (v4.0) contains 429,036 associations, between 17,381 genes and 15,093 diseases, disorders and clinical or abnormal human phenotypes, and 72,870 variant-disease associations between 46,589 SNPs and 6,356 diseases 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, scripts in several programming languages, and an R package.
This record is not implemented by any policy.
This record is maintained by CharlotteRodwell
European Union (EU) (Government body)