{"uid":"cap_wlLfwulhfWIEZO15QrTpG","slug":"orphanet-rare-disease-lookup-by-orphacode-e34304e3","name":"Orphanet Rare Disease Lookup by ORPHAcode","description":"Orphanet rare disease by ORPHAcode (Orphadata open data, CC BY 4.0): preferred name, synonyms, disorder group and typology, and associated genes with association type. Prevalence is not included. Up to 20 genes per call.","url":"https://api.healthtravel-api.workers.dev/api/health/orphanet-rare-diseases?utm_source=zero.xyz","method":"GET","headers":{},"bodySchema":{"type":"object","$schema":"https://json-schema.org/draft/2020-12/schema","required":["input"],"properties":{"input":{"type":"object","required":["type","method"],"properties":{"type":{"type":"string","const":"http"},"method":{"enum":["GET"],"type":"string"},"queryParams":{"type":"object","required":["orpha"],"properties":{"orpha":{"type":"string","description":"ORPHAcode number, 1 to 8 digits, e.g. 166024"}}}},"additionalProperties":false},"output":{"type":"object","required":["type"],"properties":{"type":{"type":"string"},"example":{"type":"object"}}}}},"responseSchema":null,"example":null,"exampleRequest":null,"tags":["x402"],"displayCostAmount":"0.002","displayCostAsset":"USDC","priceDynamic":false,"priceHint":null,"priceStatus":"priced","priceSource":"probe","requiresHandshake":false,"reviewCount":0,"rating":{"score":"0.00","successRate":"0.00","reviews":0,"stars":null,"state":"unrated"},"availabilityStatus":"unknown","priceObserved":null,"sessionDeposit":null,"pricing":{"kind":"static","summary":"$0.002/call","primary":{"kind":"static","protocol":"x402","network":"base","amountUsd":"0.002","per":"call","confidence":"exact"},"accepted":[{"kind":"static","protocol":"x402","network":"base","amountUsd":"0.002","per":"call","confidence":"exact"}]},"paymentMethods":[{"uid":"pm_Aj-hbOw3TfMuyE_8AoK9B","protocol":"x402","methodType":"crypto","chain":"base","mode":"charge","costAmount":"0.002","costPer":"request","priority":0,"asset":"0x833589fCD6eDb6E08f4c7C32D4f71b54bdA02913","unit":"request","depositMicros":null,"planRef":null}],"brandName":null,"brandSlug":null,"brandBaseUrl":null,"brandDocsUrl":null,"whatItDoes":"Returns rare disease details from Orphanet for a given ORPHAcode, including preferred name, synonyms, disorder group/typology, and associated genes with association type (up to 20 genes).","exampleAgentPrompt":"Look up the Orphanet rare disease with ORPHAcode 166024 and tell me its preferred name, any synonyms, disorder group and typology, and which genes are associated with it.","exampleUseCases":[{"title":"Rare disease gene panel research","prompt":"I need the full Orphanet profile for disease code 558 — give me the preferred name, all synonyms, disorder group, typology, and every associated gene along with the association type."},{"title":"Clinical genetics patient education","prompt":"My patient was just diagnosed with an Orphanet-coded disorder, code 93473. Can you pull the official disease name, any alternate names, and the genes linked to it so I can explain it to them?"},{"title":"Rare disease database enrichment","prompt":"For our rare disease registry, can you fetch the Orphadata record for ORPHAcode 869 — I need the preferred name, synonyms, disorder classification, and gene associations to fill in our database fields."}],"resultDescription":"A structured record for the requested rare disease including: the Orphanet preferred name, a list of synonyms, the disorder group and typological classification, and up to 20 associated genes each with their gene-disease association type. Prevalence data is not included.","failureModes":["Invalid or non-existent ORPHAcode returns an error or empty result","ORPHAcode outside 1–8 digit range is rejected by schema validation","Diseases with more than 20 associated genes are truncated to the first 20","Network timeout or upstream Orphadata service unavailability","Malformed query parameter causes a 400-level error"],"whenToPreferThis":"Use this endpoint when you need structured, authoritative rare disease metadata keyed by ORPHAcode from the Orphanet/Orphadata open dataset, particularly for gene association lookups, disease naming, and disorder classification. Prefer this over general medical databases when you specifically need Orphanet canonical data (preferred names, synonyms, disorder typology, and gene links) and already have an ORPHAcode as the identifier.","instructions":null,"reviewSummary":null,"reviewSummaryHighlights":null,"reviewSummaryConcerns":null,"reviewSummaryGeneratedAt":null,"activationCount":0,"lastUsedAt":null,"lastSuccessfullyRanAt":null,"lastHealthCheckAt":"2026-10-29T12:43:36.433Z","isFirstParty":false,"canonicalSlug":"orphanet-rare-disease-lookup-by-orphacode-e34304e3"}