Search Orphanet
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.
Request
- Base URLhttps://api.assyro.com
- Authnone declared
Query parameters
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.
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).
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.
Entities to return, default 8.
Skip this many results (for paging), default 0.
Response
Matching records.
Changes
No recorded changes to this operation across all 1 revision of this API.