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berntpopp
by berntpopp

Find Diseases by Gene

find_diseases_by_gene
Read-onlyIdempotent

Retrieve rare diseases linked to a specific gene using an HGNC symbol. Returns paginated list of Orphanet disorder codes and names.

Instructions

Find all Orphanet disorders associated with an HGNC gene symbol. Returns {orpha_code, name} per disorder with pagination. Signature: find_diseases_by_gene(gene_symbol, limit=, offset=, response_mode=).

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
limitNoMax rows returned (default 50).
offsetNoRows to skip for forward paging (default 0).
gene_symbolYesHGNC gene symbol, e.g. 'KIF7' or 'HNF1B'.
response_modeNoVerbosity: minimal|compact|standard|full (default compact).compact
Behavior4/5

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

Annotations already declare readOnlyHint, idempotentHint, etc. Description adds return format {orpha_code, name} and pagination behavior, plus the function signature, which provides useful context beyond annotations.

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?

Two concise sentences plus a signature, all front-loaded with key information. No wasted words.

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

Completeness4/5

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

For a read-only, idempotent tool with 100% schema coverage and annotations, the description covers return format and pagination. Lacks specifics on response_mode values, but schema handles that. Overall adequate.

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 description coverage is 100%, so the schema already documents parameters. The description only repeats the signature without adding new meaning, so baseline 3 is appropriate.

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?

Description clearly states what the tool does: 'Find all Orphanet disorders associated with an HGNC gene symbol' with specific verb 'find' and resource 'disorders', and distinguishes from sibling find_diseases_by_phenotype by the input type.

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

Usage Guidelines3/5

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

Usage is implied by the name and description (use when you have a gene symbol to find associated disorders), but no explicit guidance on when not to use or comparison to alternatives like find_diseases_by_phenotype.

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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