Orphan Disease Structural Atlas
get_orphan_disease_atlasAggregate clinical and structural intelligence for a rare disease by retrieving its MONDO record, HPO phenotypes, and protein target evidence.
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 |