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: Dec. 16, 2019, 4:47 p.m.; Last accessed: Jul 13 2020 9:14 a.m.
Record updated: Dec. 3, 2019, 1:58 p.m. by The FAIRsharing Team.
Edits to 'https://fairsharing.org/FAIRsharing.pbbnwa' by 'The FAIRsharing Team' at 13:58, 03 Dec 2019 (approved): 'onto_disciplines' has been modified: Before: Biomedical Science Health Science After: Biomedical Science Health Science Ontology and Terminology Added: Ontology and Terminology Removed: 'contactORCID' has been modified: Before: After: 0000-0003-4308-6337
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
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No metrics standards defined
The European Mouse Mutant Archive (EMMA) is a non-profit repository for the collection, archiving (via cryopreservation) and distribution of relevant mutant strains essential for basic biomedical research. The laboratory mouse is the most important mammalian model for studying genetic and multi-factorial diseases in man. Thus the work of EMMA will play a crucial role in exploiting the tremendous potential benefits to human health presented by the current research in mammalian genetics.
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 (v7.0) contains 1,134,942 gene-disease associations (GDAs), between 21,671 genes and 30,170 diseases, disorders, traits, and clinical or abnormal human phenotypes, and 369,554 variant-disease associations (VDAs), between 194,515 variants and 14,155 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.
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This record is maintained by CharlotteRodwell
European Union (EU) (Government body)