io.github.rarasAI/raras

Official21 toolsLive

by rarasAI · TypeScript

Disease Twin — Brazil's rare-disease knowledge graph (10,468) over MCP. Source-grounded, PT-BR.

io.github.rarasAI/raras — Raras Disease Twin MCP Server

Raras is a Model Context Protocol (MCP) server that exposes Brazil’s rare-disease knowledge graph (10,468 diseases) via a remote, read-only HTTP endpoint. It provides addressable Disease Twin resources and returns source-grounded biomedical details in PT-BR, while explicitly stating it never diagnoses.

🛠️ Key Features

Disease twin resources: disease://{orphaCode}
Includes genes, HPO phenotypes, and SUS coverage
Provides clinical trials and literature-mined treatments
Supports repurposing hypotheses and grounded multi-hop reasoning
PT-BR, source-grounded, never diagnosing
21 tools exposed via MCP

🚀 Use Cases

Retrieve structured rare-disease knowledge for exploration
Connect clinical trial and treatment information to disease-specific context
Use multi-hop reasoning outputs to support literature-grounded investigation

⚡ Developer Benefits

MCP-compatible access to a large disease graph (10,468)
Streamable, public HTTP transport: https://raras.org/api/mcp
Read-only design suitable for retrieval workflows

⚠️ Limitations

Public, read-only endpoint (no installation mentioned beyond MCP connection)
No diagnostic capability (“never diagnoses”)

Captured live from the server via tools/list.

search_diseases

Full-text search em 10.468 doenças raras. Suporta filtros SUS/trials.

Parameters4

query	string	required
limit	integer	optional
filter_has_sus_coverage	boolean	optional
filter_has_active_trials	boolean	optional

Raw schema

{
  "type": "object",
  "properties": {
    "query": {
      "type": "string",
      "minLength": 2
    },
    "limit": {
      "default": 10,
      "type": "integer",
      "minimum": 1,
      "maximum": 50
    },
    "filter_has_sus_coverage": {
      "type": "boolean"
    },
    "filter_has_active_trials": {
      "type": "boolean"
    }
  },
  "required": [
    "query"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_disease_detail

Fenótipos HPO, genes, SUS, trials, descrição clínica em PT.

Parameters1

orphaCode

string

required

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

find_diseases_by_phenotypes

Match por IDs HPO. Use para diagnóstico diferencial.

Parameters2

hpo_ids	array	required
limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "hpo_ids": {
      "minItems": 1,
      "maxItems": 20,
      "type": "array",
      "items": {
        "type": "string",
        "pattern": "^HP:\\d+$"
      }
    },
    "limit": {
      "default": 10,
      "type": "integer",
      "minimum": 1,
      "maximum": 30
    }
  },
  "required": [
    "hpo_ids"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

search_phenotypes

Lookup HPO em PT ou EN. Retorna IDs HP:.

Parameters2

query	string	required
limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "query": {
      "type": "string",
      "minLength": 2
    },
    "limit": {
      "default": 15,
      "type": "integer",
      "minimum": 1,
      "maximum": 50
    }
  },
  "required": [
    "query"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_sus_coverage

CEAF, SIGTAP, PNTN, nível de integração.

Parameters1

orphaCode

string

required

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

find_reference_centers

Centros por doença e/ou UF, com CNES.

Parameters3

orphaCode	string	optional
state	string	optional
limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    },
    "state": {
      "type": "string",
      "minLength": 2,
      "maxLength": 2
    },
    "limit": {
      "default": 20,
      "type": "integer",
      "minimum": 1,
      "maximum": 50
    }
  },
  "$schema": "http://json-schema.org/draft-07/schema#"
}

find_active_trials

Trials ativos com filtro Brazil.

Parameters3

orphaCode	string	required
in_brazil_only	boolean	optional
limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    },
    "in_brazil_only": {
      "default": false,
      "type": "boolean"
    },
    "limit": {
      "default": 15,
      "type": "integer",
      "minimum": 1,
      "maximum": 30
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

find_similar_diseases

Vector similarity via embeddings SOTA.

Parameters2

orphaCode	string	required
limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    },
    "limit": {
      "default": 10,
      "type": "integer",
      "minimum": 1,
      "maximum": 20
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

find_phenotypically_similar

Doenças com perfil de fenótipos HPO semelhante (simGIC pré-computado, explicável: nº de fenótipos em comum). Complementa find_similar_diseases (semântico).

Parameters2

orphaCode	string	required
limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    },
    "limit": {
      "default": 10,
      "type": "integer",
      "minimum": 1,
      "maximum": 30
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

find_communities

Comunidades FEBRARARAS por doença.

Parameters2

orphaCode	string	required
limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    },
    "limit": {
      "default": 10,
      "type": "integer",
      "minimum": 1,
      "maximum": 30
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_graph_stats

Contagens e métricas do dataset.

Parameters

No parameters.

Raw schema

{
  "type": "object",
  "properties": {},
  "$schema": "http://json-schema.org/draft-07/schema#"
}

search_papers_semantic

Busca vetorial sobre 424k papers do PubMed. Use caso clínico, pergunta ou conjunto de sintomas.

Parameters3

query	string	required
limit	integer	optional
min_score	number	optional

Raw schema

{
  "type": "object",
  "properties": {
    "query": {
      "type": "string",
      "minLength": 3
    },
    "limit": {
      "default": 10,
      "type": "integer",
      "minimum": 1,
      "maximum": 30
    },
    "min_score": {
      "default": 0.8,
      "type": "number",
      "minimum": 0,
      "maximum": 1
    }
  },
  "required": [
    "query"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

find_papers_for_disease

Literatura relacionada a uma doença via embeddings (:SEMANTIC_MATCH, fallback vetorial).

Parameters3

orphaCode	string	required
limit	integer	optional
min_score	number	optional

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    },
    "limit": {
      "default": 10,
      "type": "integer",
      "minimum": 1,
      "maximum": 30
    },
    "min_score": {
      "default": 0.8,
      "type": "number",
      "minimum": 0,
      "maximum": 1
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

analyze_clinical_case

Caso clínico → doenças candidatas + literatura relevante em 1 chamada. Apenas informativo, nunca diagnóstico.

Parameters3

case_description	string	required
papers_limit	integer	optional
diseases_limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "case_description": {
      "type": "string",
      "minLength": 20
    },
    "papers_limit": {
      "default": 5,
      "type": "integer",
      "minimum": 1,
      "maximum": 20
    },
    "diseases_limit": {
      "default": 5,
      "type": "integer",
      "minimum": 1,
      "maximum": 20
    }
  },
  "required": [
    "case_description"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_schema

Node labels, relationship types e property keys do grafo. Use antes de cypher_query.

Parameters

No parameters.

Raw schema

{
  "type": "object",
  "properties": {},
  "$schema": "http://json-schema.org/draft-07/schema#"
}

explain_relation

Raciocínio fundamentado sobre o grafo: dada uma pergunta (ex.: "por que o gene X se associa à doença Y?", "como a droga Z se relaciona a esta doença?"), retorna caminhos de evidência multi-hop (doença↔gene↔via↔droga↔fenótipo) com proveniência citável. Se não houver caminho no grafo, recusa — nunca inventa.

Parameters3

query	string	required
hpo_ids	array	optional
max_hops	any	optional

Raw schema

{
  "type": "object",
  "properties": {
    "query": {
      "type": "string",
      "minLength": 3
    },
    "hpo_ids": {
      "maxItems": 20,
      "type": "array",
      "items": {
        "type": "string",
        "pattern": "^HP:\\d+$"
      }
    },
    "max_hops": {
      "default": 2,
      "anyOf": [
        {
          "type": "number",
          "const": 2
        },
        {
          "type": "number",
          "const": 3
        }
      ]
    }
  },
  "required": [
    "query"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_literature_relations

Relações tipadas extraídas da literatura biomédica (associate/treat/cause/inhibit/stimulate/prevent) entre a doença e genes/fármacos, com nº de publicações como proveniência. Filtrável por predicado.

Parameters2

orphaCode	string	required
predicate	string	optional

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    },
    "predicate": {
      "type": "string",
      "enum": [
        "associate",
        "treat",
        "cause",
        "inhibit",
        "stimulate",
        "prevent",
        "positive_correlation",
        "negative_correlation"
      ]
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_hypotheses

Candidatos a reposicionamento de fármacos gerados por associação de genes (guilt-by-association): drogas que tratam outras doenças que compartilham genes com esta. HIPÓTESES para investigação, NUNCA recomendações clínicas — cada uma rastreável (via gene X, da doença Y).

Parameters1

orphaCode

string

required

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_research_log

Registro cronológico do que o agente autônomo fez por esta doença: autoria, mineração de literatura, evidência genética, verificação, prospecção de fontes, recomputação de relações. Prova de que o gêmeo digital estuda a doença continuamente.

Parameters1

orphaCode

string

required

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_recent_updates

Doenças cujo gêmeo digital ganhou evidência nova (autoria, PubTator3, Open Targets, verificação) nos últimos N dias. Faça polling para acompanhar mudanças (substituto stateless de subscriptions).

Parameters2

days	integer	optional
limit	integer	optional

Raw schema

{
  "type": "object",
  "properties": {
    "days": {
      "default": 7,
      "type": "integer",
      "minimum": 1,
      "maximum": 90
    },
    "limit": {
      "default": 20,
      "type": "integer",
      "minimum": 1,
      "maximum": 100
    }
  },
  "$schema": "http://json-schema.org/draft-07/schema#"
}

get_evidence

Cross-references de autoridade (Orphanet, MONDO, OMIM, MeSH, GARD, UMLS), status de verificação e PMIDs de uma doença. A base da regra "nunca inventar".

Parameters1

orphaCode

string

required

Raw schema

{
  "type": "object",
  "properties": {
    "orphaCode": {
      "type": "string",
      "pattern": "^\\d+$"
    }
  },
  "required": [
    "orphaCode"
  ],
  "$schema": "http://json-schema.org/draft-07/schema#"
}

README.md1 KBView on GitHub

Raras Disease Twin — MCP Server

Brazilian rare-disease knowledge graph (10,468 diseases) exposed via the Model Context Protocol (MCP). Each disease is an addressable Disease Twin (disease://{orphaCode}): genes, HPO phenotypes, SUS coverage, clinical trials, literature-mined treatments, repurposing hypotheses, and grounded multi-hop reasoning — PT-BR first, source-grounded, never diagnoses.

Connect (no install)

Remote endpoint: https://raras.org/api/mcp (Streamable HTTP, public, read-only)
Claude Code: claude mcp add --transport http raras https://raras.org/api/mcp
claude.ai / Desktop: Settings → Connectors → Add custom connector → paste the URL
Docs: https://raras.org/mcp

Skill

SKILL.md is an installable Claude Skill — drop it in .claude/skills/raras-disease-twin/.

License

Data: CC-BY-4.0 · Code: MIT · https://raras.org

Install

Tools (21)

search_diseasesget_disease_detailfind_diseases_by_phenotypessearch_phenotypesget_sus_coveragefind_reference_centersfind_active_trialsfind_similar_diseases

Remote endpoint

Streamable HTTP

Hosted server - connect over the network, no local install.

url

https://raras.org/api/mcp

Add to VS Code Add to Cursor

claude_desktop_config.json

json

{
  "mcpServers": {
    "raras": {
      "command": "npx",
      "args": [
        "-y",
        "mcp-remote",
        "https://raras.org/api/mcp"
      ]
    }
  }
}

Desktop config is stdio-only; this bridges via mcp-remote. Native remote: Settings > Connectors.

io.github.rarasAI/raras — Raras Disease Twin MCP Server

🛠️ Key Features

🚀 Use Cases

⚡ Developer Benefits

⚠️ Limitations

search_diseases

get_disease_detail

find_diseases_by_phenotypes

search_phenotypes

get_sus_coverage

find_reference_centers

find_active_trials

find_similar_diseases

find_phenotypically_similar

find_communities

get_graph_stats

search_papers_semantic

find_papers_for_disease

analyze_clinical_case

get_schema

explain_relation

get_literature_relations

get_hypotheses

get_research_log

get_recent_updates

get_evidence

Raras Disease Twin — MCP Server

Connect (no install)

Skill

License

Install

Remote endpoint

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