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

Preferred Prefix

orphanet.ordo

Alternative Prefixes

ordo

Version

4.1

Links

Homepage OWL

Contact

Ana Rath

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

Publications

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

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

Providers are various services that resolve CURIEs to URLs. The example CURIE orphanet.ordo:C023 is used to demonstrate the provides available for orphanet.ordo. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.