raras
Disease Twin — Brazil's rare-disease knowledge graph (10,468) over MCP. Source-grounded, PT-BR.
Sollte ich dies verwenden
Qualität und Sicherheit
Befunde (12)
- HIGH
- MEDIUMin get_literature_relations
- LOWin get_disease_detail
- LOWin find_diseases_by_phenotypes
- LOWin get_sus_coverage
- LOWin find_reference_centers
- LOWin find_active_trials
- LOWin find_similar_diseases
- LOWin search_papers_semantic
- LOWin find_papers_for_disease
Basierend auf einer automatisierten Analyse der Tool-Definitionen und der Einhaltung des Protokolls.
Kontextkosten
Dies ist die ungefähre Anzahl der Tokens, die jedes Mal verbraucht werden, wenn die Tools des Servers in den Kontext eines Modells geladen werden. Höhere Werte verringern die Aufmerksamkeit, die für andere Aufgaben verfügbar ist.
Installieren
Installation mit einem Klick
Fügen Sie dies Ihrer Datei `claude_desktop_config.json` hinzu:
{
"mcpServers": {
"raras": {
"url": "https://raras.org/api/mcp"
}
}
}Remote-Endpunkte
https://raras.org/api/mcpstreamable-httpWas es kann
Tool-Inventar
Tools (20)
🟢search_diseases(query, limit, filter_has_sus_coverage, filter_has_active_trials)
Full-text search em 10.468 doenças raras. Suporta filtros SUS/trials.
Eingabe-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"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢get_disease_detail(orphaCode)
Fenótipos HPO, genes, SUS, trials, descrição clínica em PT.
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢find_diseases_by_phenotypes(hpo_ids, limit)
Match por IDs HPO. Use para diagnóstico diferencial.
Eingabe-Schema
{
"type": "object",
"properties": {
"hpo_ids": {
"minItems": 1,
"maxItems": 20,
"type": "array",
"items": {
"type": "string",
"pattern": "^HP:\\d+$"
}
},
"limit": {
"default": 10,
"type": "integer",
"minimum": 1,
"maximum": 30
}
},
"required": [
"hpo_ids"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢search_phenotypes(query, limit)
Lookup HPO em PT-BR (encoder Araras-HPO-Brasil + léxico leigo) ou EN (vocabulário HPO). Retorna IDs HP: com estado de asserção: termo NEGADO ("nunca desmaiei") NÃO vira fenótipo. Outros idiomas não são cobertos. Limite de taxa: use poucas chamadas por minuto (429 = espere).
Eingabe-Schema
{
"type": "object",
"properties": {
"query": {
"type": "string",
"minLength": 2
},
"limit": {
"default": 15,
"type": "integer",
"minimum": 1,
"maximum": 50
}
},
"required": [
"query"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}Ausgabe-Schema
{
"type": "object",
"properties": {
"query": {
"type": "string"
},
"assertion": {
"type": "string",
"enum": [
"PRESENT",
"NEGATED"
]
},
"results": {
"type": "array",
"items": {
"type": "object",
"properties": {
"hpoId": {
"type": "string"
},
"name": {
"type": "string"
},
"namePt": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"match": {
"type": "string",
"enum": [
"exact",
"approximate"
]
},
"via": {
"type": "string"
},
"similarity": {
"anyOf": [
{
"type": "number"
},
{
"type": "null"
}
]
}
},
"required": [
"hpoId",
"name",
"namePt",
"match",
"via",
"similarity"
],
"additionalProperties": false
}
},
"note": {
"type": "string"
},
"languages": {
"type": "string"
},
"meta": {}
},
"required": [
"query",
"assertion",
"results"
],
"$schema": "http://json-schema.org/draft-07/schema#",
"additionalProperties": false
}🟢get_sus_coverage(orphaCode)
CEAF, SIGTAP, PNTN, nível de integração.
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢find_reference_centers(orphaCode, state, limit)
Centros por doença e/ou UF, com CNES.
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
},
"state": {
"type": "string",
"minLength": 2,
"maxLength": 2
},
"limit": {
"default": 20,
"type": "integer",
"minimum": 1,
"maximum": 50
}
},
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢find_active_trials(orphaCode, in_brazil_only, limit)
Trials ativos com filtro Brazil.
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
},
"in_brazil_only": {
"default": false,
"type": "boolean"
},
"limit": {
"default": 15,
"type": "integer",
"minimum": 1,
"maximum": 30
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢find_similar_diseases(orphaCode, limit)
Vector similarity via embeddings SOTA.
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
},
"limit": {
"default": 10,
"type": "integer",
"minimum": 1,
"maximum": 20
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢find_phenotypically_similar(orphaCode, limit)
Doenças com perfil de fenótipos HPO semelhante (simGIC pré-computado, explicável: nº de fenótipos em comum). Complementa find_similar_diseases (semântico).
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
},
"limit": {
"default": 10,
"type": "integer",
"minimum": 1,
"maximum": 30
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}Ausgabe-Schema
{
"type": "object",
"properties": {
"method": {
"type": "string"
},
"orphaCode": {
"type": "string"
},
"results": {
"type": "array",
"items": {
"type": "object",
"properties": {
"orphaCode": {
"type": "string"
},
"name": {
"type": "string"
},
"score": {
"type": "number"
},
"sharedPhenotypes": {
"type": "number"
},
"url": {
"type": "string"
}
},
"required": [
"orphaCode",
"name",
"score",
"sharedPhenotypes",
"url"
],
"additionalProperties": false
}
},
"meta": {}
},
"required": [
"method",
"orphaCode",
"results"
],
"$schema": "http://json-schema.org/draft-07/schema#",
"additionalProperties": false
}🟢get_graph_stats
Contagens e métricas do dataset.
Eingabe-Schema
{
"type": "object",
"properties": {},
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢search_papers_semantic(query, limit, min_score)
Busca vetorial sobre 424k papers do PubMed. Use caso clínico, pergunta ou conjunto de sintomas.
Eingabe-Schema
{
"type": "object",
"properties": {
"query": {
"type": "string",
"minLength": 3
},
"limit": {
"default": 10,
"type": "integer",
"minimum": 1,
"maximum": 30
},
"min_score": {
"default": 0.8,
"type": "number",
"minimum": 0,
"maximum": 1
}
},
"required": [
"query"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢find_papers_for_disease(orphaCode, limit, min_score)
Literatura relacionada a uma doença via embeddings (:SEMANTIC_MATCH, fallback vetorial).
Eingabe-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(case_description, papers_limit, diseases_limit)
Caso clínico → doenças candidatas + literatura relevante em 1 chamada. Apenas informativo, nunca diagnóstico.
Eingabe-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"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢get_schema
Node labels, relationship types e property keys do grafo. Use antes de cypher_query.
Eingabe-Schema
{
"type": "object",
"properties": {},
"$schema": "http://json-schema.org/draft-07/schema#"
}🟢explain_relation(query, hpo_ids, max_hops)
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.
Eingabe-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#"
}Ausgabe-Schema
{
"type": "object",
"properties": {
"query": {
"type": "string"
},
"hasEvidence": {
"type": "boolean"
},
"summary": {
"type": "object",
"properties": {
"diseases": {
"type": "number"
},
"phenotypes": {
"type": "number"
},
"genes": {
"type": "number"
},
"drugs": {
"type": "number"
}
},
"required": [
"diseases",
"phenotypes",
"genes",
"drugs"
],
"additionalProperties": false
},
"paths": {
"type": "array",
"items": {
"type": "object",
"properties": {
"score": {
"type": "number"
},
"chain": {
"type": "array",
"items": {
"type": "string"
}
},
"sources": {
"type": "array",
"items": {
"type": "string"
}
}
},
"required": [
"score",
"chain",
"sources"
],
"additionalProperties": false
}
}
},
"required": [
"query",
"hasEvidence",
"summary",
"paths"
],
"$schema": "http://json-schema.org/draft-07/schema#",
"additionalProperties": false
}🟢get_literature_relations(orphaCode, predicate)
Relações tipadas extraídas da literatura biomédica (associate/treat/cause/inhibit/stimulate/prevent) entre a doença e genes/fármacos, com nº de publicações como proveniência. Filtrável por predicado.
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
},
"predicate": {
"type": "string",
"enum": [
"associate",
"treat",
"cause",
"inhibit",
"stimulate",
"prevent",
"positive_correlation",
"negative_correlation"
]
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}Ausgabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string"
},
"source": {
"type": "string"
},
"relations": {
"type": "array",
"items": {
"type": "object",
"properties": {
"predicate": {
"type": "string"
},
"partner": {
"type": "string"
},
"partnerType": {
"type": "string"
},
"publications": {
"type": "number"
},
"direction": {
"type": "string"
}
},
"required": [
"predicate",
"partner",
"partnerType",
"publications",
"direction"
],
"additionalProperties": false
}
}
},
"required": [
"orphaCode",
"source",
"relations"
],
"$schema": "http://json-schema.org/draft-07/schema#",
"additionalProperties": false
}🟢get_hypotheses(orphaCode)
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).
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}Ausgabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string"
},
"name": {
"type": "string"
},
"method": {
"type": "string"
},
"isRecommendation": {
"type": "boolean"
},
"hypotheses": {
"type": "array",
"items": {
"type": "object",
"properties": {
"drug": {
"type": "string"
},
"viaGenes": {
"type": "array",
"items": {
"type": "string"
}
},
"sources": {
"type": "array",
"items": {
"type": "object",
"properties": {
"name": {
"type": "string"
},
"orpha": {
"type": "string"
}
},
"required": [
"name",
"orpha"
],
"additionalProperties": false
}
},
"geneOverlap": {
"type": "number"
}
},
"required": [
"drug",
"viaGenes",
"sources",
"geneOverlap"
],
"additionalProperties": false
}
}
},
"required": [
"orphaCode",
"name",
"method",
"isRecommendation",
"hypotheses"
],
"$schema": "http://json-schema.org/draft-07/schema#",
"additionalProperties": false
}🟢get_research_log(orphaCode)
Registro cronológico do que o agente autônomo fez por esta doença: autoria, mineração de literatura, evidência genética, verificação, prospecção de fontes, recomputação de relações. Prova de que o gêmeo digital estuda a doença continuamente.
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}Ausgabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string"
},
"name": {
"type": "string"
},
"events": {
"type": "array",
"items": {
"type": "object",
"properties": {
"date": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"type": {
"type": "string"
},
"title": {
"type": "string"
},
"detail": {
"type": "string"
}
},
"required": [
"date",
"type",
"title",
"detail"
],
"additionalProperties": false
}
}
},
"required": [
"orphaCode",
"name",
"events"
],
"$schema": "http://json-schema.org/draft-07/schema#",
"additionalProperties": false
}🟢get_recent_updates(days, limit)
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).
Eingabe-Schema
{
"type": "object",
"properties": {
"days": {
"default": 7,
"type": "integer",
"minimum": 1,
"maximum": 90
},
"limit": {
"default": 20,
"type": "integer",
"minimum": 1,
"maximum": 100
}
},
"$schema": "http://json-schema.org/draft-07/schema#"
}Ausgabe-Schema
{
"type": "object",
"properties": {
"sinceDays": {
"type": "number"
},
"updates": {
"type": "array",
"items": {
"type": "object",
"properties": {
"orphaCode": {
"type": "string"
},
"name": {
"type": "string"
},
"lastUpdated": {
"type": "string"
},
"sources": {
"type": "array",
"items": {
"type": "string"
}
},
"resource": {
"type": "string"
}
},
"required": [
"orphaCode",
"name",
"lastUpdated",
"sources",
"resource"
],
"additionalProperties": false
}
}
},
"required": [
"sinceDays",
"updates"
],
"$schema": "http://json-schema.org/draft-07/schema#",
"additionalProperties": false
}🟢get_evidence(orphaCode)
Cross-references de autoridade (Orphanet, MONDO, OMIM, MeSH, GARD, UMLS), status de verificação e PMIDs de uma doença. A base da regra "nunca inventar".
Eingabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string",
"pattern": "^\\d+$"
}
},
"required": [
"orphaCode"
],
"$schema": "http://json-schema.org/draft-07/schema#"
}Ausgabe-Schema
{
"type": "object",
"properties": {
"orphaCode": {
"type": "string"
},
"name": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"xrefs": {
"type": "object",
"properties": {
"orphanet": {
"type": "string"
},
"mondo": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"omim": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"mesh": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"gard": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"umls": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"pubtator3": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
}
},
"required": [
"orphanet",
"mondo",
"omim",
"mesh",
"gard",
"umls",
"pubtator3"
],
"additionalProperties": false
},
"verification": {
"type": "object",
"properties": {
"status": {
"type": "string"
},
"checkedAt": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
}
},
"required": [
"status",
"checkedAt"
],
"additionalProperties": false
},
"diseaseTwin": {
"type": "object",
"properties": {
"authoredAt": {
"anyOf": [
{
"type": "string"
},
{
"type": "null"
}
]
},
"groundingPct": {
"anyOf": [
{
"type": "number"
},
{
"type": "null"
}
]
}
},
"required": [
"authoredAt",
"groundingPct"
],
"additionalProperties": false
},
"pmids": {
"type": "array",
"items": {
"type": "string"
}
},
"neverInvent": {
"type": "boolean"
}
},
"required": [
"orphaCode",
"name",
"xrefs",
"verification",
"diseaseTwin",
"pmids",
"neverInvent"
],
"$schema": "http://json-schema.org/draft-07/schema#",
"additionalProperties": false
}Community
Nachweis