Orphan Disease Structural Atlas
get_orphan_disease_atlasMap an Orphanet rare disease ID to its MONDO record, HPO phenotypes, and protein targets to accelerate research.
Instructions
Map an Orphanet rare disease to its MONDO record, HPO phenotypes, and protein targets.
Rare / orphan diseases are often under-studied because their small patient populations make large trials impractical. This tool aggregates the available structural and clinical intelligence into one report to accelerate research.
Returns:
MONDO record with ICD-10 coding
HPO phenotype profile of the disease
Open Targets protein target evidence scores
UniProt IDs for AlphaFold structural retrieval
Example: get_orphan_disease_atlas(orphanet_id='79318')
returns the Gaucher disease atlas.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| params | Yes |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |