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Cortexa research tool·genomics·medgen
MedGen Get Clinical Features
Get HPO clinical features (phenotypes) associated with a genetic condition from NCBI MedGen. Returns feature names, HPO IDs, UMLS CUIs, and definitions. Useful for phenotype-driven diagnosis. Example: uid='41393' (cystic fibrosis) returns bronchiectasis, meconium ileus, male infertility, etc.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 21 lines · 498 chars
Examples (1)
Default MedGen Get Clinical Features 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_MedGen_get_clinical_features
- Tool name
- MedGen_get_clinical_features
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse