Classifications of Rare Diseases

Orphanet nomenclature is classified by medical specialties in order to reflect the multidimensional nature of rare diseases. Every entity can belong to multiple specialties according to their clinical presentation, and so be included in several Orphanet classifications. XML files are available in English (for another language  contact us).

Data are also available through APIs.

Orphanet Knowledge base release of July 2025

XML
ClassificationFileSizeDateDiffFile
Rare cardiac diseasesen_product3_146.xml189.35 KB24 Jun 25diffFile
Rare developmental anomalies during embryogenesisen_product3_147.xml4.63 MB24 Jun 25diffFile
Rare cardiac malformationsen_product3_148.xml213.6 KB24 Jun 25diffFile
Rare inborn errors of metabolismen_product3_150.xml872.01 KB24 Jun 25diffFile
Rare gastroenterological diseasesen_product3_152.xml207.35 KB24 Jun 25diffFile
Rare genetic diseasesen_product3_156.xml14.39 MB24 Jun 25diffFile
Rare neurological diseasesen_product3_181.xml4.11 MB24 Jun 25diffFile
Rare abdominal surgical diseasesen_product3_182.xml183.29 KB24 Jun 25diffFile
Rare hepatic diseasesen_product3_183.xml157.44 KB24 Jun 25diffFile
Rare respiratory diseasesen_product3_184.xml225.59 KB24 Jun 25diffFile
Rare urogenital diseasesen_product3_185.xml181.38 KB24 Jun 25diffFile
Rare surgical thoracic diseasesen_product3_186.xml71.21 KB24 Jun 25diffFile
Rare skin diseasesen_product3_187.xml878.63 KB24 Jun 25diffFile
Rare renal diseasesen_product3_188.xml370.24 KB24 Jun 25diffFile
Rare ophthalmic diseasesen_product3_189.xml1.2 MB24 Jun 25diffFile
Rare endocrine diseasesen_product3_193.xml729.8 KB24 Jun 25diffFile
Rare haematological diseasesen_product3_194.xml514.83 KB24 Jun 25diffFile
Rare immunological diseasesen_product3_195.xml317.63 KB24 Jun 25diffFile
Rare systemic and rhumatological diseasesen_product3_196.xml272.6 KB24 Jun 25diffFile
Rare odontological diseasesen_product3_197.xml90.52 KB24 Jun 25diffFile
Rare circulatory system diseasesen_product3_198.xml246.5 KB24 Jun 25diffFile
Rare bone diseasesen_product3_199.xml792.92 KB24 Jun 25diffFile
Rare otorhinolaryngological diseasesen_product3_200.xml357.73 KB24 Jun 25diffFile
Rare infertilityen_product3_201.xml158.29 KB24 Jun 25diffFile
Rare neoplastic diseasesen_product3_202.xml1.03 MB24 Jun 25diffFile
Rare infectious diseasesen_product3_203.xml146.97 KB24 Jun 25diffFile
Rare diseases due to toxic effectsen_product3_204.xml39.84 KB24 Jun 25diffFile
Rare gynaecological and obstetric diseasesen_product3_205.xml241.62 KB24 Jun 25diffFile
Rare surgical maxillo-facial diseasesen_product3_209.xml172.64 KB24 Jun 25diffFile
Rare allergic diseaseen_product3_212.xml17.88 KB24 Jun 25diffFile
Rare teratologic disordersen_product3_216.xml24.6 KB24 Jun 25diffFile
Rare systemic and rheumatological diseases of childhooden_product3_231.xml90.07 KB24 Jun 25diffFile
Rare transplant-related diseasesen_product3_233.xml1.39 MB24 Jun 25diffFile
Rare disorder without a determined diagnosis after full investigationen_product3_235.xml2.01 KB24 Jun 25diffFile
Previous versions

Please consult the  Orphadata Github for previous versions (since April 2020). Historical versions (before April 2020) are available on request (please use  contact form).

Description

In order to give an example of the schema representations of the Orphanet Classifications products, you can find below a  JPEG file and an XSD  (XML Schema Definitions) schema representation for the Rare Allergic Disease Classification.

All files are available under the  Commons Attribution 4.0 International (CC BY 4.0) licence 

These products have been recognised as an  Elixir Core Data Resource and a  Global Core Biodata Resource

These products are an  IRDiRC Recognized Resources

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