The human diseases in which proteins are involved are described in UniProtKB entries with a controlled vocabulary.

Prefix
uniprot.disease
Alternative Prefixes
DI SP_DI
Keywords
ontology
Links
Homepage OBO
Contact
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in UniProt Diseases should match this regular expression:
^DI-\d{5}$

Example Local Unique Identifier
DI-04240   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from UniProt Diseases should match this regular expression:
^uniprot\.disease:DI-\d{5}$

Example CURIE
uniprot.disease:DI-04240
Contributors
Ontology

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

Part Of (bfo:0000050 )
uniprot
Metaregistry UniProt Diseases

The metaregistry provides mappings between the Bioregistry and other registries. There are 2 mappings to external registries for this resource with 2 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
Biolink Biolink Model Registry logo biolink SPDI
Wikidata Wikidata Property logo wikidata P11430
Providers

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 DI-04240 is used to demonstrate the providers available for UniProt Diseases. A guide for curating additional providers can be found here.

Name Metaprefix URI
UniProt Diseases uniprot.disease https://www.uniprot.org/diseases/DI-04240
Bioregistry bioregistry https://bioregistry.io/uniprot.disease:DI-04240