# Saylor Innovations Bioinformatics: Rare Disease Reference (Orphanet)

> 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.

## Facts

- Endpoint: GET https://saylorinnovations.com/api/bio/rare-disease/:id?utm_source=zero.xyz
- Price: $0.003/call
- Payment: x402
- Status: unknown
- Last checked: 2026-10-01
- Activations on Zero: 0
- Tags: x402
- Canonical page: https://www.zero.xyz/c/saylor-innovations-bioinformatics-rare-disease-reference-orphanet-829ecfa2
- Structured record (JSON): https://api.zero.xyz/v1/capabilities/cap_jRZAOha5VtAQpdY_lpVW7

Status and success rate cover calls made through Zero and Zero's own probes. Third-party monitors may report differently.

## How to call it through Zero

Zero handles the 402 payment challenge and records the run. With the Zero CLI installed (`npm i -g @zeroxyz/cli`):

```sh
zero fetch --capability saylor-innovations-bioinformatics-rare-disease-reference-orphanet-829ecfa2
```

Example prompt: 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?

## When to prefer this

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.

## Known failure modes

- 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

## 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.

## Request schema (JSON Schema)

```json
{
 "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"
       }
      }
     }
    }
   }
  }
 }
}
```

## More

- Live health (JSON, refreshed every minute): https://www.zero.xyz/c/saylor-innovations-bioinformatics-rare-disease-reference-orphanet-829ecfa2/health.json
- [Zero catalog index](https://www.zero.xyz/llms.txt)
- [Other services from saylorinnovations.com](https://www.zero.xyz/host/saylorinnovations.com/llms.txt)