Orphanet Tools

Configuration File: orphanet_tools.json Tool Type: Local Tools Count: 5

This page contains all tools defined in the orphanet_tools.json configuration file.

Available Tools

Orphanet_get_classification (Type: OrphanetTool)

Get disease classification hierarchy from Orphanet. Returns parent and child disease categories s…

Orphanet_get_classification tool specification

Tool Information:

  • Name: Orphanet_get_classification

  • Type: OrphanetTool

  • Description: Get disease classification hierarchy from Orphanet. Returns parent and child disease categories showing where a disease fits in the rare disease taxonomy. Useful for understanding disease relationships.

Parameters:

  • operation (string) (required) Operation type (fixed: get_classification)

  • orpha_code (string) (required) Orphanet ORPHA code

  • lang (string) (optional) Language code (default: en)

Example Usage:

query = {
    "name": "Orphanet_get_classification",
    "arguments": {
        "operation": "example_value",
        "orpha_code": "example_value"
    }
}
result = tu.run(query)

Orphanet_get_disease (Type: OrphanetTool)

Get detailed information about a rare disease by ORPHA code. Returns disease name, definition, sy…

Orphanet_get_disease tool specification

Tool Information:

  • Name: Orphanet_get_disease

  • Type: OrphanetTool

  • Description: Get detailed information about a rare disease by ORPHA code. Returns disease name, definition, synonyms, and classification. ORPHA codes are unique Orphanet identifiers (e.g., 558 for Marfan syndrome). No authentication required.

Parameters:

  • operation (string) (required) Operation type (fixed: get_disease)

  • orpha_code (string) (required) Orphanet ORPHA code (e.g., 558, 166024). Can include ORPHA: prefix.

  • lang (string) (optional) Language code (default: en)

Example Usage:

query = {
    "name": "Orphanet_get_disease",
    "arguments": {
        "operation": "example_value",
        "orpha_code": "example_value"
    }
}
result = tu.run(query)

Orphanet_get_genes (Type: OrphanetTool)

Get genes associated with a rare disease from Orphanet. Returns gene symbols, names, and associat…

Orphanet_get_genes tool specification

Tool Information:

  • Name: Orphanet_get_genes

  • Type: OrphanetTool

  • Description: Get genes associated with a rare disease from Orphanet. Returns gene symbols, names, and association types (causative, modifier, susceptibility). Essential for rare disease genetic diagnosis.

Parameters:

  • operation (string) (required) Operation type (fixed: get_genes)

  • orpha_code (string) (required) Orphanet ORPHA code for the disease

Example Usage:

query = {
    "name": "Orphanet_get_genes",
    "arguments": {
        "operation": "example_value",
        "orpha_code": "example_value"
    }
}
result = tu.run(query)

Orphanet_search_by_name (Type: OrphanetTool)

Search for rare diseases by exact or partial name match in Orphanet. More precise than keyword se…

Orphanet_search_by_name tool specification

Tool Information:

  • Name: Orphanet_search_by_name

  • Type: OrphanetTool

  • Description: Search for rare diseases by exact or partial name match in Orphanet. More precise than keyword search. Returns ORPHA codes and disease names. Supports exact matching mode for disambiguation.

Parameters:

  • operation (string) (required) Operation type (fixed: search_by_name)

  • name (string) (required) Disease name to search (e.g., ‘Marfan syndrome’)

  • exact (boolean) (optional) If true, match exact name only. Default: false

  • lang (string) (optional) Language code (default: en)

Example Usage:

query = {
    "name": "Orphanet_search_by_name",
    "arguments": {
        "operation": "example_value",
        "name": "example_value"
    }
}
result = tu.run(query)

Orphanet_search_diseases (Type: OrphanetTool)

Search Orphanet for rare diseases by keyword. Orphanet is the reference portal for rare diseases …

Orphanet_search_diseases tool specification

Tool Information:

  • Name: Orphanet_search_diseases

  • Type: OrphanetTool

  • Description: Search Orphanet for rare diseases by keyword. Orphanet is the reference portal for rare diseases and orphan drugs. Returns disease names, ORPHA codes, and synonyms. No authentication required. Supports multiple languages (en, fr, de, es, it, pt, pl, nl).

Parameters:

  • operation (string) (required) Operation type (fixed: search_diseases)

  • query (string) (required) Search query - disease name or keyword (e.g., ‘Marfan’, ‘muscular dystrophy’)

  • lang (string) (optional) Language code (en, fr, de, es, it, pt, pl, nl). Default: en

Example Usage:

query = {
    "name": "Orphanet_search_diseases",
    "arguments": {
        "operation": "example_value",
        "query": "example_value"
    }
}
result = tu.run(query)