Rare disease ontology and hierarchy context
Strategy teams use this context to normalize indications, rare diseases, synonyms, and cross-ontology disease families.
Rare disease ontology with hierarchical classification, synonyms, cross-references to OMIM, ICD-10, and MONDO. Structured for computational use.
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Overview
Strategy teams use this context to normalize indications, rare diseases, synonyms, and cross-ontology disease families.
Rare disease ontology with hierarchical classification, synonyms, cross-references to OMIM, ICD-10, and MONDO. Structured for computational use.
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 Rare Disease Ontology
Freshness
Last refreshed 2026-07-01
Annual
Coverage
15K+ ontology terms
2 delivery tables