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 2024
Classification | File | Size | Date | DiffFile |
---|---|---|---|---|
Rare cardiac diseases | en_product3_146.xml | 187.03 KB | 03 Dec 24 | diffFile |
Rare developmental anomalies during embryogenesis | en_product3_147.xml | 4.58 MB | 03 Dec 24 | diffFile |
Rare cardiac malformations | en_product3_148.xml | 212.9 KB | 03 Dec 24 | diffFile |
Rare inborn errors of metabolism | en_product3_150.xml | 851.99 KB | 03 Dec 24 | diffFile |
Rare gastroenterological diseases | en_product3_152.xml | 204.08 KB | 03 Dec 24 | diffFile |
Rare genetic diseases | en_product3_156.xml | 14.19 MB | 03 Dec 24 | diffFile |
Rare neurological diseases | en_product3_181.xml | 4.02 MB | 03 Dec 24 | diffFile |
Rare abdominal surgical diseases | en_product3_182.xml | 174.16 KB | 03 Dec 24 | diffFile |
Rare hepatic diseases | en_product3_183.xml | 153.53 KB | 03 Dec 24 | diffFile |
Rare respiratory diseases | en_product3_184.xml | 225.07 KB | 03 Dec 24 | diffFile |
Rare urogenital diseases | en_product3_185.xml | 177.56 KB | 03 Dec 24 | diffFile |
Rare surgical thoracic diseases | en_product3_186.xml | 70.58 KB | 03 Dec 24 | diffFile |
Rare skin diseases | en_product3_187.xml | 874.72 KB | 03 Dec 24 | diffFile |
Rare renal diseases | en_product3_188.xml | 367.63 KB | 03 Dec 24 | diffFile |
Rare ophthalmic diseases | en_product3_189.xml | 1.2 MB | 03 Dec 24 | diffFile |
Rare endocrine diseases | en_product3_193.xml | 722.41 KB | 03 Dec 24 | diffFile |
Rare haematological diseases | en_product3_194.xml | 506.38 KB | 03 Dec 24 | diffFile |
Rare immunological diseases | en_product3_195.xml | 285.19 KB | 03 Dec 24 | diffFile |
Rare systemic and rhumatological diseases | en_product3_196.xml | 266.72 KB | 03 Dec 24 | diffFile |
Rare odontological diseases | en_product3_197.xml | 91.18 KB | 03 Dec 24 | diffFile |
Rare circulatory system diseases | en_product3_198.xml | 230.69 KB | 03 Dec 24 | diffFile |
Rare bone diseases | en_product3_199.xml | 792.21 KB | 03 Dec 24 | diffFile |
Rare otorhinolaryngological diseases | en_product3_200.xml | 355.46 KB | 03 Dec 24 | diffFile |
Rare infertility | en_product3_201.xml | 158.31 KB | 03 Dec 24 | diffFile |
Rare neoplastic diseases | en_product3_202.xml | 1.02 MB | 03 Dec 24 | diffFile |
Rare infectious diseases | en_product3_203.xml | 143.22 KB | 03 Dec 24 | diffFile |
Rare diseases due to toxic effects | en_product3_204.xml | 39.2 KB | 03 Dec 24 | diffFile |
Rare gynaecological and obstetric diseases | en_product3_205.xml | 240.25 KB | 03 Dec 24 | diffFile |
Rare surgical maxillo-facial diseases | en_product3_209.xml | 171.99 KB | 03 Dec 24 | diffFile |
Rare allergic disease | en_product3_212.xml | 17.9 KB | 03 Dec 24 | diffFile |
Rare teratologic disorders | en_product3_216.xml | 24.62 KB | 03 Dec 24 | diffFile |
Rare systemic and rheumatological diseases of childhood | en_product3_231.xml | 88.6 KB | 03 Dec 24 | diffFile |
Rare transplant-related diseases | en_product3_233.xml | 1.36 MB | 03 Dec 24 | diffFile |
Rare disorder without a determined diagnosis after full investigation | en_product3_235.xml | 2.04 KB | 03 Dec 24 | 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).
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