Skip to main content
Glama
berntpopp
by berntpopp

Get Disease

get_disease
Read-onlyIdempotent

Retrieve complete rare disease records from Orphanet by ORPHAcode, label, or external reference, including definitions, synonyms, cross-references, classification, age of onset, inheritance, and optional gene and phenotype data.

Instructions

Return an Orphanet disease record: definition, synonyms, grouped cross-references, classification parents/children, age of onset, inheritance, and disorder type. The term accepts an ORPHAcode, a label/synonym, or an external xref CURIE (resolved first). xrefs are grouped by source; any nested count is leaf rows, not groups. Pass fields=['xrefs.OMIM', ...] for a sparse projection, or include=['genes','phenotypes','prevalence','disability'] to compose a full entity in ONE call. Signature: get_disease(term, response_mode=, fields=, include=).

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
termYesAn ORPHAcode (ORPHA:33069 or 33069), a disease label/synonym, or an external xref CURIE that resolves to a single Orphanet term.
fieldsNoSparse fieldset: return ONLY these top-level keys (dot into a grouped object, e.g. 'xrefs.OMIM'). Identity anchors (orpha_code, name, orphanet_version) are always included. Omit for the full payload.
includeNoCompose extra association sections into the single record (any of: genes, phenotypes, prevalence, disability) so a full entity needs one call instead of a per-section fan-out. Omit for the base record only.
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 the tool is read-only and idempotent. The description adds useful behavioral context: how the 'term' parameter resolves inputs (ORPHAcode, label/synonym, xref CURIE), that xrefs are grouped by source with leaf counts, and response_mode defaults. No contradictions with 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?

The description is a single, well-organized paragraph. It efficiently lists the output contents, explains the input term behavior, describes primary parameters (fields, include, response_mode), and ends with a clear signature. Every sentence is informative without redundancy.

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?

Given the tool has 4 parameters, no output schema, and many siblings, the description provides sufficient context: it explains what the output contains, how inputs work, and how to configure the response. It could mention pagination or rate limits, but for a single-record read tool, it is adequately complete.

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

Parameters4/5

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

With 100% schema coverage, the baseline is 3. The description adds substantial value by explaining the term resolution logic, the meaning of fields ('sparse projection') and include ('compose a full entity'), and providing the function signature. This goes beyond the schema descriptions.

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 returns an Orphanet disease record and lists the specific contents (definition, synonyms, cross-references, etc.). It differentiates from sibling tools by implying it's the comprehensive endpoint, especially with the 'include' parameter to compose a full entity in one call.

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?

The description does not explicitly state when to use this tool versus its many sibling tools (e.g., get_disease_genes, get_disease_phenotypes). It implies usage through the 'include' parameter for composing data, but lacks direct guidance on when not to use it or alternatives.

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

Install Server

Other Tools

Latest Blog Posts

MCP directory API

We provide all the information about MCP servers via our MCP API.

curl -X GET 'https://glama.ai/api/mcp/v1/servers/berntpopp/orphanet-link'

If you have feedback or need assistance with the MCP directory API, please join our Discord server