Registry Orphanet Rare Disease Ontology

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).

Alternative Prefixes
Homepage OWL
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in Orphanet Rare Disease Ontology should match this regular expression:

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:

Example CURIEs
2012 Rare diseases knowledge management: the contribution of proximity measurements in OntoOrpha and OMIM.
Metaregistry Orphanet Rare Disease Ontology

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.

Registry Name Metaprefix External Prefix
AberOWL aberowl ordo
BioContext biocontext ORPHANET.ORDO
Biolink Model Registry biolink ORPHA
BioPortal Prefixes bioportal ORDO
Cellosaurus Registry cellosaurus ORDO
FAIRSharing FAIRSharing logo fairsharing FAIRsharing.pbbnwa logo miriam orphanet.ordo
Name-to-Thing Name-to-Thing logo n2t orphanet.ordo
Ontology Lookup Service Ontology Lookup Service logo ols ordo

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.

Name Metaprefix URI
Orphanet Rare Disease Ontology orphanet.ordo
Bioregistry bioregistry miriam
Name-to-Thing n2t