The much awaited ontology of rare diseases has just been released
All real knowledge which we possess depends on methods by which we distinguish the similar from the dissimilar. {Carolus Linnaeus (1707-1778)}
Jointly developed by Orphanet and the European Bioinformatics Institute (EBI), the Orphanet Rare Disease Ontology (ORDO) provides a structured vocabulary for rare diseases, capturing relationships between diseases, genes and other pertinent features, in a language directly understandable by computers. This is an all-inclusive and singular resource point for the ontological analysis of rare diseases.
Due to the substantial advances in genome technology in recent decades, we are now witnessing an increasing complexity of genetic data with greater dispersion of phenotypic data in clinical databases. Additionally the intricacy and multiplicity of scientific and medical terminologies has mandated the need for reference tools that integrate normalised data for use by systems health information and research.
The Orphanet database is world renowned for integrating rare disease nosology (classification of rare diseases), their relationships (gene- disease relations, epidemiological data , orphan drugs) and connections with other terminologies (MeSH, SNOMED CT, UMLS), genes or non-coding RNA loci related diseases connected to scientific databases (HGNC, OMIM, UniProt, Genatlas, Reactome, Ensembl, IUPHAR), or classifications (ICD10). This data is freely downloadable on a solid platform through Orphadata (www.orphadat.org).
The partnership with the European Bioinformatics Institute (EBI, Hinxton, UK) has facilitated the modelling of rare disease information mentioned above, generating an ontology with a robust and consistent structure that reveals significant relationships. In particular, it contains semantic relationships between genes and diseases: causal germ or somatic mutations, modifier genes, susceptibility genes, fusion genes involved in causation of tumours, genes with a major role in the phenotype of chromosomal abnormalities. This is an immense help for researchers as they can globally review rare disease relationships, classifications and allow cross referencing with other ontologies. Additionally, it is also characterised by inter-operability with other resources used by genetic databases. Thus, this alliance provides bioinformaticians and researchers a method to understand the associations between these wide-ranging data in a standardised format that is integrated with other IT environments
The official ontology of rare diseases produced and maintained by Orphanet (INSERM, US14). Orphanet classifications can be browsed in the Ontology Lookup Service (OLS) view. The Orphanet Rare Disease Ontology is updated monthly following the OBO guidelines on deprecation of terms. This ontology is available to all on BioPortal, EBI as well as Orphadata.