is a Data Source.
The Orphanet Rare Disease Ontology (ORDO) is an open-access ontology developed from the Orphanet information system, enabling complex queries of rare diseases and their epidemiological data (age of onset, prevalence, mode of inheritance) and gene-disorder functional relationships.
biomedical, health, clinical, genomics, phenotype
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ID | Name | URL | Category | Format | Description |
---|---|---|---|---|---|
ordo.owl | ORDO OWL | ORDO_en_4.7.owl | DataModelProduct | owl | ORDO in OWL format in English (v4.7) |
ordo.sparql | ORDO SPARQL Endpoint | ordo-sparql-endpoint | ProgrammingInterface | ❔ | SPARQL endpoint for querying the ORDO... |
orphacode.nomenclature | Orphanet Nomenclature Pack | pack-nomenclature | DataModelProduct | ❔ | The Orphanet nomenclature pack provid... |
orphacode.api | ORPHAcodes API | api.orphacode.org | ProgrammingInterface | ❔ | API for accessing the Orphanet nomenc... |
ID | Name | URL | Category | Format | Description |
---|---|---|---|---|---|
efo.owl | EFO OWL | efo.owl | DataModelProduct | owl | The latest release of EFO in OWL format |
efo.obo | EFO OBO | efo.obo | DataModelProduct | obo | The latest release of EFO in OBO format |
ubkg.neo4j | UBKG Neo4j Docker Distribution | ubkg-downloads.xconsortia.org | GraphProduct | ❔ | Turnkey neo4j distributions that depl... |
ubkg.csv | UBKG Ontology CSV Files | ubkg-downloads.xconsortia.org | GraphProduct | csv | Ontology CSV files that can be import... |