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Orphanet Rare Disease Lookup by ORPHAcode
x402
Orphanet Rare Disease Lookup by ORPHAcode is a paid API for AI agents from api.healthtravel-api.workers.dev, paid per call via x402, $0.002/call, status unknown (last checked 2026-10-29).
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).
Price / call$0.002
Success—
StatusUnknown
How this service works
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.
Output
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.
Example use cases
Rare disease gene panel research
“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.”
Clinical genetics patient education
“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?”
Rare disease database enrichment
“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.”
Technical details
Endpoint
GEThttps://api.healthtravel-api.workers.dev/api/health/orphanet-rare-diseases?utm_source=zero.xyzWhen to prefer
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.
Side effects
- 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
Input
Schema · Request body
| Field | Type | Description |
|---|---|---|
| inputrequired | object | |
| output | object |
Tags
x402
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