`disease_phenotypes`

Pack: hpo-api · Endpoint: https://gateway.pipeworx.io/hpo-api/mcp

“What symptoms / clinical features does [disease] cause” / “HPO phenotypes for [OMIM N]” / “clinical signs of [rare disease]” — list HPO phenotype terms for a disease ID (OMIM:N, ORPHA:N, or MONDO:N format). Use to enumerate clinical features of rare diseases. Example ID: OMIM:154700 (Marfan syndrome).

Parameters

Name	Type	Required	Description
`id`	string	yes

Example call

Arguments

{
  "id": "OMIM:249000"
}

curl

curl -X POST https://gateway.pipeworx.io/hpo-api/mcp \
  -H 'Content-Type: application/json' \
  -d '{"jsonrpc":"2.0","id":1,"method":"tools/call","params":{"name":"disease_phenotypes","arguments":{"id":"OMIM:249000"}}}'

TypeScript (@pipeworx/sdk)

import { Pipeworx } from '@pipeworx/sdk';
const pipeworx = new Pipeworx();

const result = await pipeworx.call('disease_phenotypes', {
  "id": "OMIM:249000"
});

More examples

{
  "id": "ORPHA:558"
}

Response shape

Full JSON Schema

{
  "type": "object",
  "description": "HPO phenotype terms for disease"
}

Connect

Add this to your MCP client config, or use one-click install buttons:

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

See Getting Started for client-specific install steps.

disease_phenotypes