---
title: "Search Orphanet"
method: GET
path: "/v1/sources/orphanet/search"
tags: ["Orphanet"]
---

# Search Orphanet

`GET /v1/sources/orphanet/search`

## Request

- Base URL: `https://api.assyro.com`
- URL: `https://api.assyro.com/v1/sources/orphanet/search`
- Auth: none declared

Search Orphanet, the reference nomenclature of rare diseases (Orphadata, CC BY 4.0, refreshed by Orphanet twice a year), one record per ORPHA code: preferred name and synonyms, entity type (disease, syndrome, clinical subtype, group of disorders...), definition, ICD-10, ICD-11, OMIM and other codes, prevalence and incidence estimates (each with its area, class, validation status and literature source), and associated genes (HGNC symbol and association type). Search by disease name, synonym, gene symbol ("GLA") or code ("ORPHA:324", "E75.2"). A prevalence here is an estimate from the literature Orphanet cites, not a measured count; cite the ORPHA code and the dataset date. This is not a register of orphan designations or authorised orphan medicines. Obsolete codes are left out unless includeInactive is true; read_orphanet_disease reads any code, active or not.

## Query parameters

- `query` string, required: A disease name or synonym, a gene symbol, or a code, e.g. "Fabry disease", "GLA", "ORPHA:324" or "E75.2". Quoted phrases and OR work.
- `kind` string[]: Keep only these levels of the classification: "disorder" (a disease, syndrome, malformation...), "subtype" (a clinical, etiological or histopathological subtype of one), "group" (a group of disorders).
- `includeInactive` boolean: Also return entities Orphanet has made inactive (obsolete, deprecated or historical codes, each naming the code it was moved or referred to). Default false: only the current nomenclature.
- `limit` integer: Entities to return, default 8.
- `offset` integer: Skip this many results (for paging), default 0.

## Response `200`

Matching records.

- SearchResponse
  - `version` unknown, required
  - `source` SourceRef, required
    - `id` string, required
    - `label` string, required
    - `authority` string, required
  - `total` integer, nullable, required: Total matches the source reports, when it says.
  - `records` Record[], required
    - `id` string, required: The source's own identifier for the record.
    - `title` string, required
    - `url` string, required: The record's page at the source, to verify it.
    - `authority` string, required: Who published the record.
    - `snippet` string, nullable, required: The part of the record that matched; null where the licence allows only a link.
    - `publishedDate` string, nullable, required
    - `version` string, nullable, required: The edition or revision read.
    - `fields` object, nullable, required: The source's own fields; null where the licence allows only a link.
    - `asOf` string, nullable, required: The day Assyro's copy of the source was read (YYYY-MM-DD).
    - `attribution` string: The attribution the source's licence requires, on sources that require one.
  - `note` string
  - `summary` string[]

## Other responses

- `400`: The request is not valid: an unknown parameter or an argument the source refuses.
- `404`: No such source or record.
- `429`: Rate limited; retry after the Retry-After header.
- `503`: The source cannot answer from Assyro's copy right now.

---

[API](https://skmtc.dev/assyro/apis/assyro-public-data-api.md) - [All operations](https://skmtc.dev/assyro/apis/assyro-public-data-api/llms.txt) - [OpenAPI document](https://skmtc.dev/assyro/apis/assyro-public-data-api/revisions/c861290c9f47?raw)