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smaniches
by smaniches

Orphan Disease Structural Atlas

get_orphan_disease_atlas
Read-onlyIdempotent

Aggregate 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

TableJSON Schema
NameRequiredDescriptionDefault
paramsYes

Output Schema

TableJSON Schema
NameRequiredDescriptionDefault
resultYes
Behavior3/5

Does the description disclose side effects, auth requirements, rate limits, or destructive behavior?

Annotations already include readOnlyHint=true, idempotentHint=true, and openWorldHint=true, indicating safe, read-only behavior. The description lists the return fields (MONDO, HPO, targets, UniProt) but does not add significant behavioral context beyond what annotations and the output schema provide. No annotation contradiction.

Agents need to know what a tool does to the world before calling it. Descriptions should go beyond structured annotations to explain consequences.

Conciseness4/5

Is the description appropriately sized, front-loaded, and free of redundancy?

The description is well-structured: a clear lead sentence, a brief context paragraph, a bulleted list of return fields, and an example. It is concise but the context paragraph could be slightly tighter without losing value. Overall, it is easy to parse and front-loaded with the main action.

Shorter descriptions cost fewer tokens and are easier for agents to parse. Every sentence should earn its place.

Completeness5/5

Given the tool's complexity, does the description cover enough for an agent to succeed on first attempt?

Given the presence of an output schema that likely details return formats, the description covers the tool's purpose, inputs, and outputs comprehensively. It explains the rationale for the tool (under-studied rare diseases) and provides a concrete example. The sample call and return structure make it complete for an AI agent to understand invocation.

Complex tools with many parameters or behaviors need more documentation. Simple tools need less. This dimension scales expectations accordingly.

Parameters3/5

Does the description clarify parameter syntax, constraints, interactions, or defaults beyond what the schema provides?

The input schema includes a description for 'orphanet_id' ('Orphanet disease ID, e.g. '79318' (Gaucher disease).'), matching the example in the tool description. The description does not add new semantic meaning beyond the schema, so it meets the baseline (3) for a well-documented parameter.

Input schemas describe structure but not intent. Descriptions should explain non-obvious parameter relationships and valid value ranges.

Purpose5/5

Does the description clearly state what the tool does and how it differs from similar tools?

The description clearly states the verb 'map' and the resource 'Orphanet rare disease to its MONDO record, HPO phenotypes, and protein targets'. It distinguishes from sibling tools like 'get_disease_targets' and 'lookup_disease' by focusing on rare diseases and providing a comprehensive structural atlas. The title 'Orphan Disease Structural Atlas' further reinforces the specific purpose.

Agents choose between tools based on descriptions. A clear purpose with a specific verb and resource helps agents select the right tool.

Usage Guidelines4/5

Does the description explain when to use this tool, when not to, or what alternatives exist?

The description provides context on when to use the tool: for rare diseases that are under-studied, and it returns a consolidated report. It includes an example ('get_orphan_disease_atlas(orphanet_id='79318')'). However, it does not explicitly state when not to use it or mention alternative tools, which would improve guidance.

Agents often have multiple tools that could apply. Explicit usage guidance like "use X instead of Y when Z" prevents misuse.

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