Orphanet Rare Diseases Ontology
Abbreviation: ORDO
Homepage http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php
Countries that developed this resource European Union , France
Created in 2012
Taxonomic range
Knowledge Domains
Subjects
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: Oct 18 2019 9:59 a.m.
Record updated: Feb. 21, 2019, 2:27 p.m. by CharlotteRodwell.
| Mailing List | ORDO users mailing list |
| online documentation | Information and release notes |
Additional Information
| Contact | Ana Rath |
External Links
| Bioportal | http://bioportal.bioontology.org/ontologies/ORDO |
No XSD schemas defined
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.
Reporting Guidelines
No guidelines defined
Terminology Artifacts
Models and Formats
Identifier Schemas
No identifier schema standards defined
Metrics
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
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.
Record Maintainer
This record is maintained by CharlotteRodwell
Funds
Institut national de la sante et de la recherche medicale (INSERM), Paris, France (Government body)
European Union (EU) (Government body)
Maintains
Orphadata (Consortium)
