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.

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

Work with the KG
  • SPARQL:
  • TPF: