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Cortexa research tool·genomics·orphanet
Orphanet Get Phenotypes
Get HPO (Human Phenotype Ontology) phenotypes associated with a rare disease from Orphanet. Returns HPO terms with their frequency (Very frequent, Frequent, Occasional, Very rare, Excluded) and whether they are diagnostic criteria. Essential for phenotype-driven rare disease diagnosis.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 32 lines · 720 chars
Examples (1)
Default Orphanet Get Phenotypes call
public-safeinput
JSON · 1 line · 2 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_Orphanet_get_phenotypes
- Tool name
- Orphanet_get_phenotypes
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse