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Saylor Innovations Bioinformatics: Rare Disease Reference (Orphanet)
x402
Saylor Innovations Bioinformatics: Rare Disease Reference (Orphanet) is a paid API for AI agents from saylorinnovations.com, paid per call via x402, $0.003/call, status unknown (last checked 2026-10-01).
Retrieves comprehensive rare disease reference data from Orphanet by disease name or ORPHAcode, including definitions, synonyms, cross-references, inheritance patterns, prevalence, and HPO phenotypes.
Price / call$0.003
Success—
StatusUnknown
How this service works
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.
Output
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.
Example use cases
Clinical feature lookup for patient workup
“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?”
Cross-reference coding for rare disease billing
“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.”
Prevalence and onset data for epidemiology report
“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.”
Technical details
Endpoint
GEThttps://saylorinnovations.com/api/bio/rare-disease/:id?utm_source=zero.xyzWhen to prefer
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.
Side effects
- 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
Input
Schema · Request body
| Field | Type | Description |
|---|---|---|
| inputrequired | object | |
| output | object |
Tags
x402
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