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Research tool·genomics·medgen
MedGen Get Condition
Get detailed information about a specific genetic condition from NCBI MedGen by UID or UMLS CUI. Returns full definition, associated genes, OMIM IDs, synonyms, modes of inheritance, and clinical features (HPO phenotypes). Example: uid='41393' returns cystic fibrosis with CFTR/TGFB1/FCGR2A genes, autosomal recessive inheritance, 30+ clinical features.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
View JSON schemaExpandCollapse
JSON · 21 lines · 555 chars
Examples (1)
Default MedGen Get Condition call
Public-safe example · rate-limited
JSON input · 5 lines · 69 chars
Expected response keys: success
Identifiers
- Catalog ID
- tu_MedGen_get_condition
- Tool name
- MedGen_get_condition
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse