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 December 2023
Classification | File | Size | Date | DiffFile |
---|---|---|---|---|
Rare cardiac diseases | en_product3_146.xml | 187.88 KB | 04 Dec 23 | diffFile |
Rare developmental anomalies during embryogenesis | en_product3_147.xml | 4.54 MB | 04 Dec 23 | diffFile |
Rare cardiac malformations | en_product3_148.xml | 208.9 KB | 04 Dec 23 | diffFile |
Rare inborn errors of metabolism | en_product3_150.xml | 829.62 KB | 04 Dec 23 | diffFile |
Rare gastroenterological diseases | en_product3_152.xml | 204.68 KB | 04 Dec 23 | diffFile |
Rare genetic diseases | en_product3_156.xml | 14.02 MB | 04 Dec 23 | diffFile |
Rare neurological diseases | en_product3_181.xml | 3.94 MB | 04 Dec 23 | diffFile |
Rare abdominal surgical diseases | en_product3_182.xml | 164.99 KB | 04 Dec 23 | diffFile |
Rare hepatic diseases | en_product3_183.xml | 154.38 KB | 04 Dec 23 | diffFile |
Rare respiratory diseases | en_product3_184.xml | 220.71 KB | 04 Dec 23 | diffFile |
Rare urogenital diseases | en_product3_185.xml | 176.83 KB | 04 Dec 23 | diffFile |
Rare surgical thoracic diseases | en_product3_186.xml | 70.57 KB | 04 Dec 23 | diffFile |
Rare skin diseases | en_product3_187.xml | 860.3 KB | 04 Dec 23 | diffFile |
Rare renal diseases | en_product3_188.xml | 361.36 KB | 04 Dec 23 | diffFile |
Rare ophthalmic diseases | en_product3_189.xml | 1.19 MB | 04 Dec 23 | diffFile |
Rare endocrine diseases | en_product3_193.xml | 715.16 KB | 04 Dec 23 | diffFile |
Rare haematological diseases | en_product3_194.xml | 495.08 KB | 04 Dec 23 | diffFile |
Rare immunological diseases | en_product3_195.xml | 264.19 KB | 04 Dec 23 | diffFile |
Rare systemic and rhumatological diseases | en_product3_196.xml | 264.42 KB | 04 Dec 23 | diffFile |
Rare odontological diseases | en_product3_197.xml | 87.24 KB | 04 Dec 23 | diffFile |
Rare circulatory system diseases | en_product3_198.xml | 217.39 KB | 04 Dec 23 | diffFile |
Rare bone diseases | en_product3_199.xml | 807.74 KB | 04 Dec 23 | diffFile |
Rare otorhinolaryngological diseases | en_product3_200.xml | 358.72 KB | 04 Dec 23 | diffFile |
Rare infertility | en_product3_201.xml | 158.3 KB | 04 Dec 23 | diffFile |
Rare neoplastic diseases | en_product3_202.xml | 1014.6 KB | 04 Dec 23 | diffFile |
Rare infectious diseases | en_product3_203.xml | 139.34 KB | 04 Dec 23 | diffFile |
Rare diseases due to toxic effects | en_product3_204.xml | 39.2 KB | 04 Dec 23 | diffFile |
Rare gynaecological and obstetric diseases | en_product3_205.xml | 238.96 KB | 04 Dec 23 | diffFile |
Rare surgical maxillo-facial diseases | en_product3_209.xml | 176.98 KB | 04 Dec 23 | diffFile |
Rare allergic disease | en_product3_212.xml | 19.29 KB | 04 Dec 23 | diffFile |
Rare teratologic disorders | en_product3_216.xml | 24.62 KB | 04 Dec 23 | diffFile |
Rare systemic and rheumatological diseases of childhood | en_product3_231.xml | 83.24 KB | 04 Dec 23 | diffFile |
Rare transplant-related diseases | en_product3_233.xml | 1.37 MB | 04 Dec 23 | diffFile |
Rare disorder without a determined diagnosis after full investigation | en_product3_235.xml | 2.04 KB | 04 Dec 23 | diffFile |
Please consult the Orphadata Github for previous versions (since April 2020). Historical versions (before April 2020) are available on request (please use contact form).
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