standards > terminology artifact > DOI:10.25504/FAIRsharing.pbbnwa


ready Orphanet Rare Diseases Ontology

Abbreviation: ORDO


General Information
Orphanet Rare Diseases Ontology (ORDO) provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource for the computational analysis of rare diseases.



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.


This record is maintained by CharlotteRodwell

Record updated: Feb. 21, 2019, 2:27 p.m. by CharlotteRodwell.

Show edit history



Support

General

Additional Information

External Links


Tools

    No tools defined


Schemas

No XSD schemas defined


Access / Retrieve Data

Conditions of Use

Applies to: Data use




Publications

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 Paper (PubMed)

ORDO Ontology Display

View in BioPortal.


Disclaimer: This widget assumes the availability of the ontology resources in the NCBO BioPortal.


Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined


Implementing Databases (3)
Orphanet
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.

Implementing Policies

This record is not implemented by any policy.


Credit

Record Maintainer

Funds

Maintains