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mcp-mydisease

MyDisease.info MCP. Aggregated disease annotation from the BioThings ecosystem: MONDO/DOID/OMIM ontology mappings, gene-disease associations (DisGeNET), phenotypes (HPO), and chemical-disease relationships (CTD). Use to resolve disease names to ontology ids and pull cross-referenced annotations.

Part of Pipeworx — an MCP gateway connecting AI agents to 1865+ live data sources. This is an independent, unofficial integration — not affiliated with, endorsed by, or published by the upstream provider.

Tools

Tool

Description

query

Search MyDisease.info for diseases by free-text name or fielded query. Returns matching hits, each keyed by a MONDO disease id (e.g. "MONDO:0015967") with the best-matching ontology and annotation keys. Use this to resolve a disease name to canonical ontology ids before calling the "disease" tool. Free text like "diabetes" or "asthma" works; fielded queries like "mondo.label:asthma" or "disgenet.xrefs.disease_name:..." narrow the search.

disease

Fetch the full aggregated annotation object for a single disease id. Accepts MONDO ("MONDO:0015967"), DOID ("DOID:9351"), OMIM ("OMIM:125853") and other supported ontology ids. Returns cross-referenced data including MONDO ontology (labels, synonyms, xrefs, parents/children), gene-disease associations from DisGeNET, phenotypes from HPO, and chemical-disease relationships from CTD. Resolve a name to an id first via the "query" tool.

metadata

Returns MyDisease.info build metadata: total disease document count, available annotation sources (MONDO, DOID, OMIM, DisGeNET, HPO, CTD), and their current release versions.

Related MCP server: mcp-myvariant

Quick Start

Add to your MCP client (Claude Desktop, Cursor, Windsurf, etc.):

{
  "mcpServers": {
    "mydisease": {
      "url": "https://gateway.pipeworx.io/mydisease/mcp"
    }
  }
}

What this endpoint actually serves

tools/list at https://gateway.pipeworx.io/mydisease/mcp returns the tools in the table above plus the shared Pipeworx meta-tools — ask_pipeworx, discover_tools, search_within, remember/recall and the rest of the gateway-wide set. So the tool count you see is larger than this table: a single-pack endpoint currently lists roughly 30 shared tools alongside the pack's own. The connection's initialize response states its exact scope, and is the authoritative answer for a given day.

This is deliberate, not multiplexing by accident. The meta-tools are what let a scoped connection answer a question this pack does not cover — via ask_pipeworx, which routes across the whole catalog — without you adding a second MCP server. There is currently no way to mount a pack endpoint without them; if the extra schemas cost you more context than the routing is worth, connect to the full gateway once rather than to several pack endpoints.

Or connect to the full Pipeworx gateway to get every pack's tools listed directly, instead of just this one's:

{
  "mcpServers": {
    "pipeworx": {
      "url": "https://gateway.pipeworx.io/mcp"
    }
  }
}

Both URLs reach the same gateway and the same 1865+ data sources. The only difference is which pack's tools are listed directly; ask_pipeworx reaches all of them from either one.

No MCP client? Call it over HTTP

curl -X POST https://gateway.pipeworx.io/v1/tools/mydisease_query \
  -H 'Content-Type: application/json' \
  -d '{"query":"diabetes"}'

No account needed for the first calls. Inspect any tool: GET https://gateway.pipeworx.io/v1/tools/mydisease_query. Find one: POST https://gateway.pipeworx.io/v1/tools/search_packs with {"query":"..."}.

Run it from npm

@pipeworx/mcp-mydisease is a local stdio bridge to the Pipeworx gateway: your MCP client starts it with npx, and it forwards every call to the same https://gateway.pipeworx.io/mydisease/mcp endpoint shown above. It needs network access; there is no offline mode.

{
  "mcpServers": {
    "mydisease": {
      "command": "npx",
      "args": ["-y", "@pipeworx/mcp-mydisease"]
    }
  }
}

Without a key it calls anonymously, capped at 50 calls a day. A free account raises that to 200 a day: get a key at https://pipeworx.io/signup and add "env": { "PIPEWORX_API_KEY": "<your key>" } to the server entry. The key is sent as a Bearer token, the same way a hosted connection sends it, so calls are metered and billed exactly as they are there.

It lists only this pack's tools by default. Set PIPEWORX_META_TOOLS=1 to also list ask_pipeworx and the other gateway-wide tools.

Behind an HTTPS proxy: Node's built-in fetch does not read HTTPS_PROXY by default. Newer Node releases honour it when NODE_USE_ENV_PROXY=1 is set; check your Node version's documentation.

Using with ask_pipeworx

Instead of calling tools directly, you can ask questions in plain English — this works on the pack endpoint above as well as on the full gateway:

ask_pipeworx({ question: "your question about Mydisease data" })

The gateway picks the right tool and fills the arguments automatically.

More

License

MIT

Tool Schema Changelog

Recent tool additions, removals, and schema changes observed during successful MCP inspections.

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