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).
orphanet.ordo
Local identifiers in Orphanet Rare Disease Ontology should match this
regular expression:
^C?\d+$
Compact URIs (CURIEs) constructed from Orphanet Rare Disease Ontology should match
this regular expression:
^orphanet\.ordo:C?\d+$
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.
A summary of the relations in the Bioregistry schema can be found here.
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.
Registry Name | Registry Metaprefix | External Prefix | Curate |
---|---|---|---|
AberOWL
![]() |
aberowl |
ordo
|
|
BioContext | biocontext |
ORPHANET.ORDO
|
|
Biolink
|
biolink |
ORPHA
|
|
BioPortal
![]() |
bioportal |
ORDO
|
|
Cellosaurus
![]() |
cellosaurus |
ORDO
|
|
FAIRSharing
|
fairsharing |
FAIRsharing.pbbnwa
|
|
Identifiers.org
![]() |
miriam |
orphanet.ordo
|
|
N2T
![]() |
n2t |
orphanet.ordo
|
|
OLS
![]() |
ols |
ordo
|
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. A guide for curating additional providers can be found
here.
Name | Metaprefix | URI |
---|---|---|
Orphanet Rare Disease Ontology | orphanet.ordo |
http://www.orpha.net/ORDO/Orphanet_C023 |
Bioregistry | bioregistry |
https://bioregistry.io/orphanet.ordo:C023 |
Identifiers.org | miriam |
https://identifiers.org/orphanet.ordo:Orphanet_C023 |
Name-to-Thing | n2t |
https://n2t.net/orphanet.ordo:C023 |
Additional providers curated in the Bioregistry are listed here. These are typically inherited from Identifiers.org or Prefix Commons, and need extra curation.
Code | Name | URL |
---|---|---|
legacy |
Legacy Orphanet Expert | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=C023 |