The Orphanet Rare Disease ontology (ORDO) is 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. It integrates a nosology (classification of rare diseases), relationships (gene-disease relations, epiemological data) and connections with other terminologies (MeSH, UMLS, MedDRA), databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Geantlas) and classifications (ICD10).

Prefix

orphanet.ordo

Alternative Prefixes

ordo

Keywords

biomedical science diagnosis disease gene health science ontology phenotype rare disease

Version

4.6

License

CC-BY-4.0

Links

Homepage OWL

Contact

Ana Rath   0000-0003-4308-6337

Pattern for Local Unique Identifiers

Local identifiers in Orphanet Rare Disease Ontology should match this regular expression:
^C?\d+$

Example Local Unique Identifiers

C023   Resolve
478   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from Orphanet Rare Disease Ontology should match this regular expression:
^orphanet\.ordo:C?\d+$

Example CURIEs

orphanet.ordo:C023
orphanet.ordo:478

Namespace Embedded in LUI

This resource has been annotated by the Bioregistry as having a potential namespace embedded in LUI. This means that you may see local unique identifiers that include a redundant prefix and delimiter (also known as a banana) and therefore look like a CURIE. For , the banana looks like Orphanet_. Therefore, you may see local unique identifiers for this resource that look like Orphanet_C023 (instead of the canonical form C023) and CURIEs for this resource that look like orphanet.ordo:Orphanet_C023 (instead of the canonical form orphanet.ordo:C023). The Bioregistry will automatically strip off the banana when standardizing local unique identifiers and CURIEs.

Publications

2012 Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM

A summary of the relations in the Bioregistry schema can be found here.

Has URI collision with (bioregistry.schema:0000016 )

This resource shares one or more URI format strings with orphanet .

Therefore, when generating an extended prefix map, orphanet.ordo, its CURIE prefix synonyms, and its URI prefix synonyms are merged into the record for orphanet . If you believe that these are two distinct semantic spaces and should not be merged, please open a new issue on the Bioregistry issue tracker for discussion.

In Collection

Global Biodata Coalition - Global Core Biodata Resources Synapse.org external links

The metaregistry provides mappings between the Bioregistry and other registries. There are 9 mappings to external registries for this resource with 4 unique external prefixes.

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier C023 is used to demonstrate the providers available for Orphanet Rare Disease Ontology. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.

Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.