Rare disease prevalence and gene-association context
Strategy teams use this context to normalize indications, rare diseases, synonyms, and cross-ontology disease families.
Complete rare disease database with gene associations, ICD mappings, disease classifications, and prevalence data. 97.7% match rate to protein target data.
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Overview
Strategy teams use this context to normalize indications, rare diseases, synonyms, and cross-ontology disease families.
Complete rare disease database with gene associations, ICD mappings, disease classifications, and prevalence data. 97.7% match rate to protein target data.
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
11K+ rare diseases
2 delivery tables