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Rare Disease Diagnosis

rare_disease_diagnosis
Read-onlyIdempotent

Rank OMIM differential diagnoses by normalizing phenotype terms and analyzing a candidate gene.

Instructions

Normalize phenotype terms and rank OMIM differentials for a candidate gene.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
phenotype_termsNoPhenotype terms or symptoms to normalize.
gene_symbolNoCandidate gene symbol.
max_resultsNoMaximum ranked differentials to return. Default 10.
Behavior3/5

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

Annotations already declare readOnlyHint, idempotentHint, etc. The description adds that the tool normalizes terms and ranks differentials, but doesn't disclose additional behavioral traits beyond what annotations provide. No contradictions.

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

Conciseness5/5

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

A single, efficient sentence that is front-loaded and contains no wasted words. Every word earns its place.

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

Completeness3/5

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

The description adequately explains the tool's purpose but does not describe the output format or ranking criteria. With no output schema, additional detail on return structure would improve completeness for an agent.

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?

Schema coverage is 100%, with descriptions for each parameter. The description does not add new parameter-level information beyond schema, so baseline 3 is appropriate. The mention of 'normalize' adds some context but not parameter-specific meaning.

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 tool normalizes phenotype terms and ranks OMIM differentials for a candidate gene, using specific verbs and resources. It distinguishes from sibling tools like get_gene_disease_associations which likely list all associations without ranking.

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 implies use for rare disease diagnosis with a candidate gene, but lacks explicit guidance on when not to use it or mention of alternatives. However, the context of siblings helps infer its specific role.

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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