{"uid":"cap_jRZAOha5VtAQpdY_lpVW7","slug":"saylor-innovations-bioinformatics-rare-disease-reference-orphanet-829ecfa2","name":"Saylor Innovations Bioinformatics: Rare Disease Reference (Orphanet)","description":"Rare Disease Reference (Orphanet). Rare disease reference from Orphanet by name or ORPHAcode: definition, synonyms, ICD-10 / ICD-11 / OMIM / UMLS / MeSH codes, inheritance, age of onset, prevalence estimates, and clinical features (HPO phenotypes) ranked by frequency with diagnostic-criterion flags. Orphadata, CC BY 4.0; not medical advice.","url":"https://saylorinnovations.com/api/bio/rare-disease/:id?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","pathParams"],"properties":{"type":{"type":"string","const":"http"},"method":{"enum":["GET","POST","PUT","PATCH","DELETE","HEAD"],"type":"string"},"pathParams":{"type":"object","required":["id"],"properties":{"id":{"type":"string"}}}},"additionalProperties":false},"output":{"type":"object","required":["type"],"properties":{"type":{"type":"string","const":"json"},"example":{"type":"object","required":["found"],"properties":{"name":{"type":"string"},"codes":{"type":"object"},"found":{"type":"boolean"},"definition":{"type":"string"},"orpha_code":{"type":"string"},"phenotypes":{"type":"array","items":{"type":"object"}},"prevalence":{"type":"array","items":{"type":"object"}}}}}}}},"responseSchema":null,"example":null,"exampleRequest":null,"tags":["x402"],"displayCostAmount":"0.003","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":"$0.003/call","primary":{"kind":"static","protocol":"x402","network":"base","amountUsd":"0.003","per":"call","confidence":"exact"},"accepted":[{"kind":"static","protocol":"x402","network":"base","amountUsd":"0.003","per":"call","confidence":"exact"}]},"paymentMethods":[{"uid":"pm_qzNnNKE82HXp_6YYN7MmV","protocol":"x402","methodType":"crypto","chain":"base","mode":"charge","costAmount":"0.003","costPer":"request","priority":0,"asset":"EPjFWdd5AufqSSqeM2qN1xzybapC8G4wEGGkZwyTDt1v","unit":"request","depositMicros":null,"planRef":null}],"brandName":null,"brandSlug":null,"brandBaseUrl":null,"brandDocsUrl":null,"whatItDoes":"Retrieves comprehensive rare disease reference data from Orphanet by disease name or ORPHAcode, including definitions, synonyms, cross-references, inheritance patterns, prevalence, and HPO phenotypes.","exampleAgentPrompt":"Can you look up Gaucher disease on Orphanet and give me its definition, ICD-10 and OMIM codes, inheritance pattern, prevalence estimates, and the top HPO phenotypes with their frequency and diagnostic flags?","exampleUseCases":[{"title":"Clinical feature lookup for patient workup","prompt":"I'm reviewing a patient with suspected Fabry disease — can you pull the Orphanet record for it, including the HPO phenotypes ranked by frequency and any that are flagged as diagnostic criteria?"},{"title":"Cross-reference coding for rare disease billing","prompt":"I need the ICD-10, ICD-11, and OMIM codes for Williams syndrome from Orphanet so I can make sure we're coding it correctly in the clinical record."},{"title":"Prevalence and onset data for epidemiology report","prompt":"What does Orphanet say about the prevalence and typical age of onset for Prader-Willi syndrome? I need this for a rare disease epidemiology summary."}],"resultDescription":"A JSON object containing a 'found' boolean; if found, includes the disease name, ORPHAcode, textual definition, list of synonyms, a 'codes' object with ICD-10, ICD-11, OMIM, UMLS, and MeSH cross-references, inheritance mode(s), age of onset, an array of prevalence estimates with type and geographic scope, and an array of HPO phenotype entries each annotated with frequency class and a diagnostic-criterion flag.","failureModes":["Disease name not recognized or ORPHAcode does not exist — returns found: false with no detail fields","Ambiguous name matching multiple diseases — may return only one or none","Orphadata upstream unavailability — possible 502 or timeout","Misspelled disease name — returns found: false; exact or close spelling required","Very recently added diseases may not yet be in the Orphadata snapshot"],"whenToPreferThis":"Choose this endpoint when you need authoritative, structured rare disease reference data from Orphanet — including cross-ontology codes (ICD-10/11, OMIM, UMLS, MeSH), prevalence, inheritance, HPO phenotypes with frequency ranks, and diagnostic-criterion flags — in a single call. Prefer it over general medical APIs when the condition is a rare disease (prevalence < 1 in 2,000) and Orphanet coverage is important. It is not suitable for common diseases, drug information, clinical trial lookup, or real-time patient data.","instructions":null,"reviewSummary":null,"reviewSummaryHighlights":null,"reviewSummaryConcerns":null,"reviewSummaryGeneratedAt":null,"activationCount":0,"lastUsedAt":null,"lastSuccessfullyRanAt":null,"lastHealthCheckAt":"2026-10-01T12:52:43.606Z","isFirstParty":false,"canonicalSlug":"saylor-innovations-bioinformatics-rare-disease-reference-orphanet-829ecfa2"}