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
biomedical science health science ontology
Homepage OWL
Ana Rath   0000-0003-4308-6337
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
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 Orphanet Rare Disease Ontology, 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.
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 Registry Metaprefix External Prefix Curate
AberOWL AberOWL logo aberowl ordo
BioContext biocontext ORPHANET.ORDO
Biolink Biolink Model Registry logo biolink ORPHA
BioPortal BioPortal Prefixes logo bioportal ORDO
Cellosaurus Cellosaurus Registry logo cellosaurus ORDO
FAIRSharing FAIRSharing logo fairsharing FAIRsharing.pbbnwa logo miriam orphanet.ordo
N2T Name-to-Thing logo n2t orphanet.ordo
OLS 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