# orphanet-link

> Use this tool when you need to access comprehensive rare-disease data, including disease classifications and gene associations. It solves problems related to rare-disease research, diagnosis, and epidemiology by providing a query interface to Orphanet data. The tool takes query inputs and returns relevant data outputs, such as disease nomenclature, HPO phenotypes, and natural history information.

Canonical page: https://skillsregistry.net/skills/berntpopp-orphanet-link  
JSON: https://api.skillsregistry.net/v1/skills/berntpopp-orphanet-link

## Description

An MCP server that enables querying rare-disease data from Orphanet, including disease nomenclature, cross-references, classifications, gene associations, HPO phenotypes, epidemiology, and natural history.

## Trust

- **Trust score (0–1):** 0.63
- **Verification tier:** scanned
- **Last scanned:** 2026-08-31

## Facts

- **Version:** 1.0.0
- **Skill type:** atomic
- **Execution layer:** mcp-remote
- **Runtime environment:** api
- **Category:** other
- **Updated:** 2026-08-31

## Source

- **Source listing:** [Glama](https://glama.ai/mcp/servers/pesh20dy6g)
- **Repository:** <https://github.com/berntpopp/orphanet-link>

## Use it

Resolve this record through the SkillsRegistry MCP server (no auth, read-only):

```
claude mcp add --transport http --scope user skillsregistry https://api.skillsregistry.net/mcp
```

```json
{
  "jsonrpc": "2.0",
  "id": 1,
  "method": "tools/call",
  "params": {
    "name": "get_skill",
    "arguments": {
      "slug": "berntpopp-orphanet-link"
    }
  }
}
```

REST: `GET https://api.skillsregistry.net/v1/skills/berntpopp-orphanet-link` · pull for local use: `GET https://api.skillsregistry.net/v1/skills/berntpopp-orphanet-link/pull`

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SkillsRegistry indexes agent skills from public registries and GitHub. Skills we have analysed are scanned with Circle-IR and scored on six dimensions; each listing states its scan coverage. More: https://skillsregistry.net/llms.txt