{"id":1744,"date":"2022-03-24T17:22:02","date_gmt":"2022-03-24T17:22:02","guid":{"rendered":"http:\/\/www.orphadata.com\/phenotypes\/"},"modified":"2025-12-10T14:20:12","modified_gmt":"2025-12-10T14:20:12","slug":"phenotypes","status":"publish","type":"page","link":"https:\/\/sciences.orphadata.com\/phenotypes\/","title":{"rendered":"Phenotypes"},"content":{"rendered":"
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Orphanet rare diseases are annotated with\n Human Phenotype Ontology<\/a> (HPO) terms, a standardised and controlled terminology covering phenotypic abnormalities in human diseases. XML files are available in English, French, Spanish, Dutch, Portuguese, German and Italian (for\n another language,\n contact us<\/a>).<\/p>\n

Data are also available through <\/span>\n APIs<\/a>.<\/span><\/p>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n

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Orphanet Knowledge base release of December 2025<\/strong><\/p>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n

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Language<\/th>File<\/th>Number<\/th>Size<\/th>Date<\/th>DiffFile<\/th>\n<\/tr>\n<\/thead>\n
English<\/td>en_product4.xml<\/a><\/td>4337<\/td>46.53 MB<\/td>09 Dec 25<\/td>diffFile<\/a><\/td>\n<\/tr>\n
Dutch<\/td>nl_product4.xml<\/a><\/td>4337<\/td>46.58 MB<\/td>09 Dec 25<\/td>diffFile<\/a><\/td>\n<\/tr>\n
French<\/td>fr_product4.xml<\/a><\/td>4337<\/td>46.63 MB<\/td>09 Dec 25<\/td>diffFile<\/a><\/td>\n<\/tr>\n
German<\/td>de_product4.xml<\/a><\/td>4337<\/td>46.55 MB<\/td>09 Dec 25<\/td>diffFile<\/a><\/td>\n<\/tr>\n
Italian<\/td>it_product4.xml<\/a><\/td>4337<\/td>46.66 MB<\/td>09 Dec 25<\/td>diffFile<\/a><\/td>\n<\/tr>\n
Spanish<\/td>es_product4.xml<\/a><\/td>4337<\/td>46.6 MB<\/td>09 Dec 25<\/td>diffFile<\/a><\/td>\n<\/tr>\n
Portuguese<\/td>pt_product4.xml<\/a><\/td>4337<\/td>46.59 MB<\/td>09 Dec 25<\/td>diffFile<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n
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Please consult the <\/span>Orphadata <\/span>\n Github<\/a> for previous versions (since April 2020). Historical versions (before April 2020) are available on request (please use  <\/span>\n contact form<\/a>).<\/span><\/p>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n <\/div>\n

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Follow links below to get description (PDF) and representation of files (XSD and JPEG)<\/span><\/p>\n <\/div>\n <\/div>\n

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All files are available under the <\/span>\n Commons Attribution 4.0 International (CC BY 4.0) licence<\/a>\n <\/p>\n <\/div>\n <\/div>\n

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These <\/span>products have been recognised as an <\/span>\n Elixir Core Data Resource<\/a> and a \n Global Core Biodata Resource<\/a>\n <\/p>\n <\/div>\n <\/div>\n

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These products are an <\/span>\n IRDiRC Recognized Resources<\/a>\n <\/p>\n <\/div>\n <\/div>\n

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Orphanet rare diseases are annotated with Human Phenotype Ontology (HPO) terms, a standardised and controlled terminology covering phenotypic abnormalities in human diseases. XML files are available in English, French, Spanish, Dutch, Portuguese, German and Italian (for another language, contact us). Data are also available through  APIs. Orphanet Knowledge base release of December 2025 XML Previous versions […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-templates\/full-width-page.php","meta":{"footnotes":""},"class_list":["post-1744","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/pages\/1744","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/comments?post=1744"}],"version-history":[{"count":20,"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/pages\/1744\/revisions"}],"predecessor-version":[{"id":15258,"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/pages\/1744\/revisions\/15258"}],"wp:attachment":[{"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/media?parent=1744"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}