rdkg

Rare Disease Knowledge Graph

RDKG is an open knowledge graph for rare diseases that integrates standardized disease identifiers and cross-references to support discovery and evidence synthesis.

1.3M triples
13 classes
22 properties
72.4K subjects

Rare Disease Knowledge Graph (RDKG) is an open knowledge graph that harmonizes rare disease entities and their cross-references to major biomedical terminologies. It is designed to support rare disease knowledge discovery, entity linking across sources, and downstream analytics for evidence synthesis.

provenance: - derivedFrom: label: MONDO Disease Ontology uri: https://mondo.monarchinitiative.org/ kind: Ontology

  • derivedFrom: label: Orphanet / ORDO uri: https://www.orpha.net/ kind: Database/Ontology

  • derivedFrom: label: OMIM Phenotypic Series (OMIMPS) uri: https://omim.org/ kind: Database

  • derivedFrom: label: UMLS uri: https://www.nlm.nih.gov/research/umls/ kind: Terminology

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