standards > model/format > DOI:10.25504/FAIRsharing.ae5rv
Did we miss something? Our COVID-19 Collection is growing, but not yet complete. Tell us what's missing. Email contact@fairsharing.org or add missing resources to our spreadsheet


in development Semantic reference model for making rare disease resources linkable


General Information
A subset of ontology classes and properties for connecting rare disease data in the context of creating FAIR rare disease data 'at the source'. The aim is to facilitate data annotation at the source in order to enable questions and analysis across rare disease resources (e.g. biobanks, registries, molecular data). I.e. the model is not meant as a new conceptualization. Ontology files: 1. rdc-core: the minimal set of classes and properties to map to the data in the sources of the platform. RD core represents little more that the lowest level types for the identifiers of the sources of the Rare Disease Connect platform. 2. rdc-meta: the minimal semantic model, defined as much as possible using existing ontologies (OBIB, etc.). 3. rdc-meta-extended: this model includes the subclasses and properties of the entities that were imported from source ontologies, i.e. when you use the ‘move’ function of protege, rather than just copy the URI. 4. rdc-thesaurus: mappings to ‘concepts’. A SKOS-based thesaurus represents a ‘light-weight’ ontology. This allows us to define in simple terms the relations between similar or equal terms in different terminologies. 5. rdc-mapping: mapping between models, for instance between the SKOS concepts and RD-core and RD-meta. 6. rdc-example-instances: example instances (‘individuals’) to show the model at instance level. The instances, especially the IDs relate to actual data in data sources. Their datatype properties link to data.

Homepage https://github.com/LUMC-BioSemantics/Rare-Disease-Semantic-Model

Countries that developed this resource Netherlands

Created in 2016

Taxonomic range




How to cite this record FAIRsharing.org: Semantic reference model for making rare disease resources linkable; Semantic reference model for making rare disease resources linkable; DOI: https://doi.org/10.25504/FAIRsharing.ae5rv; Last edited: Oct. 24, 2019, 2:55 p.m.; Last accessed: Aug 10 2020 8:36 a.m.


This record is maintained by mroos  ORCID

Record added: Sept. 13, 2016, 9:23 a.m.
Record updated: Oct. 24, 2019, 1:24 p.m. by The FAIRsharing Team.

Show edit history



Support

General

Mailing List None

Additional Information

Contact Marco Roos   ORCID

Tools
Rare disease biobank-registry linked data demonstrator http://semlab1.liacs.nl:8080/linked-data-demo/ alpha

Schemas

No XSD schemas defined


Access / Retrieve Data

Conditions of Use





Publications

No publications available


Related Standards

Terminology Artifacts

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined


Related Databases (0)

No Related Databases


Implementing Policies

This record is not implemented by any policy.


Credit

Record Maintainer

Funds

Maintains

Undefined

Grant Number(s)