Raras — Brazilian Rare Disease Knowledge Graph
收藏Zenodo2026-05-20 更新2026-05-26 收录
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https://zenodo.org/doi/10.5281/zenodo.20318262
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资源简介：
FAIR-compliant knowledge graph integrating Orphanet, HPO, OMIM, MONDO, ClinVar, GenCC, Monarch, PharmGKB, and Brazilian SUS data (DATASUS, CEAF, SIGTAP, PNTN, PCDT, CNES, BNAFAR) for 10,000+ rare diseases with phenotype, gene, medication, trial, and care-center links.
Available as SPARQL 1.1 endpoint, Linked Data (Turtle/JSON-LD/N-Triples), GA4GH Phenopackets v2, GA4GH Beacon v2, FHIR R4, and MCP (Model Context Protocol) server for LLM agents.
Maintained by the Raras community.
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Zenodo创建时间：
2026-05-20
