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Orphanet Rare Disease Ontology

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karafecho edited this page Dec 12, 2023 · 5 revisions

Homepage URL: https://bioportal.bioontology.org/ontologies/ORDO

Description: The Orphanet Rare Disease Ontology provides a structured vocabulary for rare diseases, capturing relationships between diseases, genes, and other features of relevance to rare diseases and connecting them to terminologies (MeSH, SNOMED CT, UMLS, MedDRA), databases (OMIM, UniProtKB, HGNC, Ensembl, Reactome, IUPHAR, GenAtlas), and classification systems (ICD10). These relationships have been expert-curated by Orphanet and the European Bioinformatics Institute.

Example record: 16q24.1 microdeletion syndrome image

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Knowledge Providers (KP)

Autonomous Relay Agents (ARA)

Autonomous Relay System (ARS)

Standards and Reference Implementation (SRI)

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