Rare Disease Record and Terminology Cross-References by ORPHAcode (Orphadata)

orphadata/disease-cross-references

Looks up one rare disease by its ORPHAcode (the Orphanet identifier, for example 558 for Marfan syndrome) and returns its preferred term, synonyms, definition, disorder group and typology, with its mappings to other terminologies: ICD-10, ICD-11, OMIM, MONDO, MeSH, MedDRA and UMLS, each with its mapping relation (exact, broader or narrower) and validation status. An unknown ORPHAcode fails as a validation error. The Orphadata licence notice (CC-BY-4.0) comes back in the response. Orphadata Science data from Orphanet, passed through unmodified; results derived from it may not reflect the Orphanet source data. Served by Eden Engine; not an official Orphadata product.

activeper callv1

Price

$0.0026 per call

You pay the price shown. If a call turns out to cost more than its quote, you pay the actual price, capped at twice the quote. No monthly minimum. Top-ups start at $5.

Data source

Orphadata

Orphadata Science: data from Orphanet. © INSERM 1999. Available on http://sciences.orphadata.com/. Data version: the release stamp in data.results.Date of each response. Licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0). Passed through unmodified. Results derived from this data may not reflect the Orphanet/Orphadata source data, and Orphanet is not responsible for the quality of outputs. Served by Eden Engine; not an official Orphadata product.

Use it

Five steps: search, inspect, learn, run, settle. No per-tool setup; your agent reaches this tool through the meta-tools it already has.

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agent

// 1. search: find the tool
omnial_search({ query: "what you need" })

// 2. inspect: price and input schema
omnial_inspect({ tool: "orphadata/disease-cross-references" })

// 3. learn: read the usage guide at runtime
omnial_learn({ tool: "orphadata/disease-cross-references" })

// 4. run: price the exact call first, then run it
omnial_execute({ tool: "orphadata/disease-cross-references", input: { /* see input_schema */ }, dry_run: true })
omnial_execute({ tool: "orphadata/disease-cross-references", input: { /* ... */ } })

// 5. settle: the call is charged when it finishes, nothing to do

Not connected yet? Point your MCP client at https://mcp.eden-engine.com/mcp, then copy a config for your client.

Pricing

Every charge this tool can incur.

Charge	Price
Per call	$0.0026

Updated: Oct 20, 2026

Input and output schemas

Input schema

input_schema.json

{
  "type": "object",
  "required": [
    "orphacode"
  ],
  "properties": {
    "orphacode": {
      "type": "integer",
      "minimum": 1,
      "description": "The ORPHAcode of the disease, a positive integer without the ORPHA: prefix, for example 558 for Marfan syndrome."
    }
  },
  "additionalProperties": false
}

Output schema

output_schema.json

{
  "type": "object",
  "required": [
    "data"
  ],
  "properties": {
    "uri": {
      "type": "string"
    },
    "data": {
      "type": "object",
      "required": [
        "results"
      ],
      "properties": {
        "__count": {
          "type": "integer"
        },
        "results": {
          "type": "object",
          "properties": {
            "Date": {
              "type": "string",
              "description": "Release stamp of the data."
            },
            "Synonym": {
              "type": "array",
              "items": {
                "type": "string"
              }
            },
            "Typology": {
              "type": "string",
              "description": "For example Disease."
            },
            "ORPHAcode": {
              "type": "integer",
              "description": "The Orphanet disease identifier."
            },
            "OrphanetURL": {
              "type": "string"
            },
            "DisorderFlag": {
              "type": "array",
              "items": {
                "type": "object",
                "additionalProperties": true
              }
            },
            "DisorderGroup": {
              "type": "string",
              "description": "For example Disorder."
            },
            "Preferred term": {
              "type": "string",
              "description": "The disease name."
            },
            "ExternalReference": {
              "type": "array",
              "items": {
                "type": "object",
                "properties": {
                  "Source": {
                    "type": "string"
                  },
                  "Reference": {
                    "type": "string"
                  },
                  "DisorderMappingRelation": {
                    "type": "string"
                  },
                  "DisorderMappingValidationStatus": {
                    "type": "string"
                  }
                },
                "additionalProperties": true
              },
              "description": "Mappings to other terminologies. `Source` names the terminology, `Reference` the code in it, `DisorderMappingRelation` how the two concepts relate (E exact, BTNT broader, NTBT narrower), `DisorderMappingValidationStatus` the validation status. ICD entries may carry `DisorderMappingICDRelation` and a browser URL; those fields are null for other sources."
            },
            "SummaryInformation": {
              "type": "array",
              "items": {
                "type": "object",
                "additionalProperties": true
              },
              "description": "Definition text, as `{ Definition }` entries."
            },
            "DisorderDisorderAssociation": {
              "description": "Null in the captured record."
            }
          },
          "description": "The disease record.",
          "additionalProperties": true
        },
        "__licence": {
          "type": "object",
          "description": "The licence the data is published under: identifier, name and link.",
          "additionalProperties": true
        }
      },
      "additionalProperties": true
    },
    "parameters": {
      "type": "object",
      "additionalProperties": true
    },
    "datasetCategory": {
      "type": "object",
      "additionalProperties": true
    }
  },
  "description": "The Orphadata response: `data.results` is the disease record, `data.__licence` the CC-BY-4.0 licence notice, `data.__count` the number of records (1).",
  "additionalProperties": true
}