Curated rare disease gene association context
Strategy teams use this context to normalize indications, rare diseases, synonyms, and cross-ontology disease families.
Curated gene-disease associations for rare diseases with association type, validation status, and genetic basis classification.
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Overview
Strategy teams use this context to normalize indications, rare diseases, synonyms, and cross-ontology disease families.
Curated gene-disease associations for rare diseases with association type, validation status, and genetic basis classification.
Navigate disease hierarchy, synonym expansion, ontology crosswalks, and gene-disease evidence without manual mapping.
Normalize disease concepts across MeSH, MONDO, DOID, Orphanet, ICD, OMIM, and trial condition text.
Support indication expansion, rare disease strategy, target validation, and literature search use cases.
Join disease concepts to trials, grants, publications, targets, and regulatory indications.
Source authority
Orphanet
Freshness
Last refreshed 2026-07-01
Annual
Coverage
8K+ gene associations
2 delivery tables