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 — MCP Server

Disease Twin — Brazil's rare-disease knowledge graph (10,468) over MCP. Source-grounded, PT-BR. Exposes addressable Disease Twins with genes, HPO phenotypes, SUS coverage, clinical trials, literature-mined treatments, repurposing hypotheses, and grounded multi-hop reasoning; PT-BR-first, source-grounded, never diagnoses.

🛠️ Key Features

Remote, streamable HTTP MCP endpoint: https://raras.org/api/mcp
Public, read-only access with no install required
Model Context Protocol (MCP) integration for Disease Twin entities
Source-grounded, PT-BR first, non-diagnostic reasoning
10,468 diseases modeled as addressable disease://{orphaCode}
Includes genes, HPO phenotypes, SUS coverage, trials, literature-mined treatments
Supports multi-hop reasoning grounded to sources
21 tools or capabilities referenced (toolCount)

🚀 Use Cases

Retrieve disease twins for Brazilian rare diseases
Explore genes, phenotypes, and SUS coverage linked to conditions
Inspect clinical trials and treatment hypotheses for repurposing
Ground reasoning with source data for research and compliance
Integrate with MCP-enabled pipelines for knowledge graphs

⚡ Developer Benefits

Clear MCP exposure endpoint without installation
Public, streamable API suitable for cataloging and tooling
Grounded, source-backed content suitable for verification
PT-BR-first data flavor with strong provenance

⚠️ Limitations

Read-only access; no write or diagnosis capability
PT-BR focus; other languages may be limited
Data is source-grounded and may reflect source constraints or delays

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 — 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

Related servers