{"id":1742,"date":"2022-03-24T17:21:07","date_gmt":"2022-03-24T17:21:07","guid":{"rendered":"http:\/\/www.orphadata.com\/genes\/"},"modified":"2025-12-10T14:19:59","modified_gmt":"2025-12-10T14:19:59","slug":"genes","status":"publish","type":"page","link":"https:\/\/sciences.orphadata.com\/genes\/","title":{"rendered":"Genes"},"content":{"rendered":"<div data-colibri-id=\"1742-c1\" class=\"style-1503 style-local-1742-c1 position-relative\">\n  <!---->\n  <div data-colibri-component=\"section\" data-colibri-id=\"1742-c2\" id=\"custom-3\" class=\"h-section h-section-global-spacing d-flex align-items-lg-center align-items-md-center align-items-center style-5418 style-local-1742-c2 position-relative\">\n    <!---->\n    <!---->\n    <div class=\"h-section-grid-container h-section-boxed-container\">\n      <!---->\n      <div data-colibri-id=\"1742-c3\" class=\"h-row-container gutters-row-lg-2 gutters-row-md-2 gutters-row-0 gutters-row-v-lg-2 gutters-row-v-md-2 gutters-row-v-2 style-9041 style-local-1742-c3 position-relative\">\n        <!---->\n        <div class=\"h-row justify-content-lg-center justify-content-md-center justify-content-center align-items-lg-stretch align-items-md-stretch align-items-stretch gutters-col-lg-2 gutters-col-md-2 gutters-col-0 gutters-col-v-lg-2 gutters-col-v-md-2 gutters-col-v-2\">\n          <!---->\n          <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-9042-outer style-local-1742-c4-outer\">\n            <div data-colibri-id=\"1742-c4\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-9042 style-local-1742-c4 position-relative\">\n              <!---->\n              <!---->\n              <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                <!---->\n                <div data-colibri-id=\"1742-c5\" class=\"h-text h-text-component style-3574 style-local-1742-c5 position-relative h-element\">\n                  <!---->\n                  <!---->\n                  <div class=\"\">\n                    <p>In order to better define rare diseases of genetic origin, Orphanet provides information on every gene related to a rare disease. XML file is available in English (for another language,\n                      <a href=\"https:\/\/www.orphadata.com\/genes\/contact\"\n                        target=\"_blank\">contact us<\/a>).<\/p>\n                    <p><span style=\"font-weight: 400; font-size: 22px; font-family: Lato; color: rgb(58, 97, 107);\">Data are also available through&nbsp;<\/span>\n                      <a href=\"https:\/\/www.orphadata.com\/contact\" target=\"_blank\" style=\"font-weight: 400; font-size: 22px; font-family: Lato; color: rgb(0, 102, 204);\">APIs<\/a><span style=\"font-weight: 400; font-size: 22px; font-family: Lato; color: rgb(58, 97, 107);\">.<\/span><\/p>\n                  <\/div>\n                <\/div>\n              <\/div>\n            <\/div>\n          <\/div>\n        <\/div>\n      <\/div>\n      <div data-colibri-id=\"1742-c6\" class=\"h-row-container gutters-row-lg-2 gutters-row-md-2 gutters-row-0 gutters-row-v-lg-2 gutters-row-v-md-2 gutters-row-v-2 style-5419 style-local-1742-c6 position-relative\">\n        <!---->\n        <div class=\"h-row justify-content-lg-center justify-content-md-center justify-content-center align-items-lg-stretch align-items-md-stretch align-items-stretch gutters-col-lg-2 gutters-col-md-2 gutters-col-0 gutters-col-v-lg-2 gutters-col-v-md-2 gutters-col-v-2\">\n          <!---->\n          <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-5362-outer style-local-1742-c7-outer\">\n            <div data-colibri-id=\"1742-c7\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-5362 style-local-1742-c7 position-relative\">\n              <!---->\n              <!---->\n              <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                <!---->\n                <div data-colibri-id=\"1742-c8\" class=\"h-text h-text-component style-6251 style-local-1742-c8 position-relative h-element\">\n                  <!---->\n                  <!---->\n                  <div class=\"\">\n                    <p><strong style=\"font-weight: 700; font-size: 23px; font-family: Lato; color: rgb(27, 130, 6);\">Orphanet Knowledge base release of December&nbsp;2025<\/strong><\/p>\n                  <\/div>\n                <\/div>\n                <div data-toggle=\"true\" data-is-preview=\"true\" data-colibri-component=\"accordion\" data-colibri-id=\"1742-c9\" class=\"h-accordion style-5354 style-local-1742-c9 position-relative h-element\">\n                  <!---->\n                  <div data-colibri-id=\"1742-c10\" class=\"h-accordion-item h-accordion-item-first-child style-5355 style-local-1742-c10 position-relative h-element\">\n                    <!---->\n                    <a data-open-by-default=\"false\" href=\"#1742-c10\" class=\"h-accordion-item-title d-flex align-items-center h-global-transition\">\n                      <!----><span>XML<\/span>\n                      <div class=\"h-accordion-item-title-normal-icon h-accordion-item-title-icon h-accordion-item-title-icon-right\"><span class=\"h-svg-icon\"><!--Icon by Font Awesome (https:\/\/fontawesome.com)-->\n    <svg version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" id=\"chevron-down\" viewBox=\"0 0 1792 1896.0833\">\n      <path d=\"M1683 808l-742 741q-19 19-45 19t-45-19L109 808q-19-19-19-45.5t19-45.5l166-165q19-19 45-19t45 19l531 531 531-531q19-19 45-19t45 19l166 165q19 19 19 45.5t-19 45.5z\"><\/path>\n    <\/svg><\/span><\/div>\n                      <div class=\"h-accordion-item-title-active-icon h-accordion-item-title-icon h-accordion-item-title-icon-right\"><span class=\"h-svg-icon\"><!--Icon by Font Awesome (https:\/\/fontawesome.com)-->\n    <svg version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" id=\"chevron-up\" viewBox=\"0 0 1792 1896.0833\">\n      <path d=\"M1683 1331l-166 165q-19 19-45 19t-45-19L896 965l-531 531q-19 19-45 19t-45-19l-166-165q-19-19-19-45.5t19-45.5l742-741q19-19 45-19t45 19l742 741q19 19 19 45.5t-19 45.5z\"><\/path>\n    <\/svg><\/span><\/div>\n                    <\/a>\n                    <div id=\"1742-c10\" class=\"h-accordion-item-content__container\">\n                      <div class=\"w-100 h-y-container h-accordion-item-content\">\n                        <!---->\n                        <div data-colibri-id=\"1742-c11\" class=\"style-1542 style-local-1742-c11 position-relative h-element\">\n                          <!---->\n                          <div class=\"\">\n<table id=\"tablepress-5\" class=\"tablepress tablepress-id-5\">\n<thead>\n<tr class=\"row-1\">\n\t<th class=\"column-1\">Language<\/th><th class=\"column-2\">File<\/th><th class=\"column-3\">Number<\/th><th class=\"column-4\">Size<\/th><th class=\"column-5\">Date<\/th><th class=\"column-6\">DiffFile<\/th>\n<\/tr>\n<\/thead>\n<tbody class=\"row-striping row-hover\">\n<tr class=\"row-2\">\n\t<td class=\"column-1\">English<\/td><td class=\"column-2\"><a href=\"https:\/\/www.orphadata.com\/data\/xml\/en_product6.xml\" download>en_product6.xml<\/a><\/td><td class=\"column-3\">4128<\/td><td class=\"column-4\">21.77 MB<\/td><td class=\"column-5\">09 Dec 25<\/td><td class=\"column-6\"><a href=\"https:\/\/www.orphadata.com\/data\/diff\/en_product6.diff\">diffFile<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<!-- #tablepress-5 from cache --><\/div>\n                        <\/div>\n                      <\/div>\n                    <\/div>\n                  <\/div>\n                  <div data-colibri-id=\"1742-c12\" class=\"h-accordion-item style-5357 style-local-1742-c12 position-relative h-element\">\n                    <!---->\n                    <a data-open-by-default=\"false\" href=\"#1742-c12\" class=\"h-accordion-item-title d-flex align-items-center h-global-transition\">\n                      <!----><span>Previous versions<\/span>\n                      <div class=\"h-accordion-item-title-normal-icon h-accordion-item-title-icon h-accordion-item-title-icon-right\"><span class=\"h-svg-icon\"><!--Icon by Font Awesome (https:\/\/fontawesome.com)-->\n    <svg version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" id=\"chevron-down\" viewBox=\"0 0 1792 1896.0833\">\n      <path d=\"M1683 808l-742 741q-19 19-45 19t-45-19L109 808q-19-19-19-45.5t19-45.5l166-165q19-19 45-19t45 19l531 531 531-531q19-19 45-19t45 19l166 165q19 19 19 45.5t-19 45.5z\"><\/path>\n    <\/svg><\/span><\/div>\n                      <div class=\"h-accordion-item-title-active-icon h-accordion-item-title-icon h-accordion-item-title-icon-right\"><span class=\"h-svg-icon\"><!--Icon by Font Awesome (https:\/\/fontawesome.com)-->\n    <svg version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" id=\"chevron-up\" viewBox=\"0 0 1792 1896.0833\">\n      <path d=\"M1683 1331l-166 165q-19 19-45 19t-45-19L896 965l-531 531q-19 19-45 19t-45-19l-166-165q-19-19-19-45.5t19-45.5l742-741q19-19 45-19t45 19l742 741q19 19 19 45.5t-19 45.5z\"><\/path>\n    <\/svg><\/span><\/div>\n                    <\/a>\n                    <div id=\"1742-c12\" class=\"h-accordion-item-content__container\">\n                      <div class=\"w-100 h-y-container h-accordion-item-content\">\n                        <!---->\n                        <div data-colibri-id=\"1742-c13\" class=\"h-row-container gutters-row-lg-2 gutters-row-md-2 gutters-row-0 gutters-row-v-lg-2 gutters-row-v-md-2 gutters-row-v-2 style-5428 style-local-1742-c13 position-relative\">\n                          <!---->\n                          <div class=\"h-row justify-content-lg-center justify-content-md-center justify-content-center align-items-lg-stretch align-items-md-stretch align-items-stretch gutters-col-lg-2 gutters-col-md-2 gutters-col-0 gutters-col-v-lg-2 gutters-col-v-md-2 gutters-col-v-2\">\n                            <!---->\n                            <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-5429-outer style-local-1742-c14-outer\">\n                              <div data-colibri-id=\"1742-c14\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-5429 style-local-1742-c14 position-relative\">\n                                <!---->\n                                <!---->\n                                <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                                  <!---->\n                                  <div data-colibri-id=\"1742-c15\" class=\"h-icon style-5264 style-local-1742-c15 position-relative h-element\">\n                                    <!----><span class=\"h-svg-icon h-icon__icon style-5264-icon style-local-1742-c15-icon\"><!--Icon by Foundation Icons (https:\/\/zurb.com\/playground\/foundation-icon-fonts-3)--><svg version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" id=\"social-github\" viewBox=\"0 0 399 512.5\"><path d=\"M200 61.25c110 0 199 90 199 200 0 88-57 163-136 189-10 2-14-4-14-9v-55c0-19-6-31-13-37 44-5 91-22 91-99 0-22-7-39-20-53 2-5 9-25-2-53 0 0-17-5-55 21-16-4-33-7-50-7s-34 3-50 7c-38-26-55-21-55-21-11 28-4 48-2 53-13 14-21 31-21 53 0 77 47 94 91 99-6 5-10 14-12 27-11 5-41 14-59-17 0 0-10-19-30-20 0 0-20 0-2 12 0 0 14 6 23 29 0 0 11 39 67 27v34s-3 11-13 9c-79-26-137-101-137-189 0-110 90-200 200-200z\"><\/path><\/svg><\/span><\/div>\n                                <\/div>\n                              <\/div>\n                            <\/div>\n                            <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-5430-outer style-local-1742-c16-outer\">\n                              <div data-colibri-id=\"1742-c16\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-5430 style-local-1742-c16 position-relative\">\n                                <!---->\n                                <!---->\n                                <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                                  <!---->\n                                  <div data-colibri-id=\"1742-c17\" class=\"h-text h-text-component style-5433 style-local-1742-c17 position-relative h-element\">\n                                    <!---->\n                                    <!---->\n                                    <div class=\"\">\n                                      <p><span style=\"font-weight: 400; font-size: 120%; font-family: Lato; color: rgb(58, 97, 107);\">Please consult the&nbsp;<\/span>\n                                        <a href=\"https:\/\/github.com\/Orphanet\/Orphadata_aggregated\" target=\"_blank\" rel=\"noopener\"\n                                          style=\"font-weight: 400; font-size: 120%; font-family: Lato; color: rgb(0, 102, 204);\" class=\"customize-unpreviewable\">Orphadata Github<\/a><span style=\"font-weight: 400; font-size: 120%; font-family: Lato; color: rgb(58, 97, 107);\">&nbsp;for previous versions (since April 2020). Historical versions (before April 2020) are available on request (please use&nbsp;&nbsp;<\/span>\n                                        <a\n                                          href=\"http:\/\/www.orphadata.com\/classifications\/contact\" target=\"_blank\" rel=\"noopener\" style=\"font-weight: 400; font-size: 120%; font-family: Lato; color: rgb(0, 102, 204);\">contact form<\/a><span style=\"font-weight: 400; font-size: 120%; font-family: Lato; color: rgb(58, 97, 107);\">).<\/span><\/p>\n                                    <\/div>\n                                  <\/div>\n                                <\/div>\n                              <\/div>\n                            <\/div>\n                          <\/div>\n                        <\/div>\n                      <\/div>\n                    <\/div>\n                  <\/div>\n                  <div data-colibri-id=\"1742-c18\" class=\"h-accordion-item style-5359 style-local-1742-c18 position-relative h-element\">\n                    <!---->\n                    <a data-open-by-default=\"false\" href=\"#1742-c18\" class=\"h-accordion-item-title d-flex align-items-center h-global-transition\">\n                      <!----><span>Description<\/span>\n                      <div class=\"h-accordion-item-title-normal-icon h-accordion-item-title-icon h-accordion-item-title-icon-right\"><span class=\"h-svg-icon\"><!--Icon by Font Awesome (https:\/\/fontawesome.com)-->\n    <svg version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" id=\"chevron-down\" viewBox=\"0 0 1792 1896.0833\">\n      <path d=\"M1683 808l-742 741q-19 19-45 19t-45-19L109 808q-19-19-19-45.5t19-45.5l166-165q19-19 45-19t45 19l531 531 531-531q19-19 45-19t45 19l166 165q19 19 19 45.5t-19 45.5z\"><\/path>\n    <\/svg><\/span><\/div>\n                      <div class=\"h-accordion-item-title-active-icon h-accordion-item-title-icon h-accordion-item-title-icon-right\"><span class=\"h-svg-icon\"><!--Icon by Font Awesome (https:\/\/fontawesome.com)-->\n    <svg version=\"1.1\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" id=\"chevron-up\" viewBox=\"0 0 1792 1896.0833\">\n      <path d=\"M1683 1331l-166 165q-19 19-45 19t-45-19L896 965l-531 531q-19 19-45 19t-45-19l-166-165q-19-19-19-45.5t19-45.5l742-741q19-19 45-19t45 19l742 741q19 19 19 45.5t-19 45.5z\"><\/path>\n    <\/svg><\/span><\/div>\n                    <\/a>\n                    <div id=\"1742-c18\" class=\"h-accordion-item-content__container\">\n                      <div class=\"w-100 h-y-container h-accordion-item-content\">\n                        <!---->\n                        <div data-colibri-id=\"1742-c19\" class=\"h-text h-text-component style-5427 style-local-1742-c19 position-relative h-element\">\n                          <!---->\n                          <!---->\n                          <div class=\"\">\n                            <p><span style=\"color: rgb(58, 97, 107); font-family: Lato; font-size: 120%; font-weight: 400;\">Follow links below to get description (PDF) and representation of files (XSD and JPEG)<\/span><\/p>\n                          <\/div>\n                        <\/div>\n                        <div data-colibri-id=\"1742-c20\" class=\"h-row-container gutters-row-lg-2 gutters-row-md-2 gutters-row-0 gutters-row-v-lg-2 gutters-row-v-md-2 gutters-row-v-2 style-5439 style-local-1742-c20 position-relative\">\n                          <!---->\n                          <div class=\"h-row justify-content-lg-center justify-content-md-center justify-content-center align-items-lg-stretch align-items-md-stretch align-items-stretch gutters-col-lg-2 gutters-col-md-2 gutters-col-0 gutters-col-v-lg-2 gutters-col-v-md-2 gutters-col-v-2\">\n                            <!---->\n                            <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-5440-outer style-local-1742-c21-outer\">\n                              <div data-colibri-id=\"1742-c21\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-5440 style-local-1742-c21 position-relative\">\n                                <!---->\n                                <!---->\n                                <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                                  <!---->\n                                  <div data-colibri-id=\"1742-c22\" class=\"d-block style-5442 style-local-1742-c22 position-relative h-element\">\n                                    <!---->\n                                    <div class=\"h-image__frame-container-outer\">\n                                      <a href=\"https:\/\/sciences.orphadata.com\/docs\/OrphadataFreeAccessProductsDescription.pdf\" target=\"_blank\" h-use-smooth-scroll=\"true\" class=\"image-link\">\n                                        <div class=\"h-image__frame-container\">\n                                          <!---->\n                                          <!---->\n                                          <img loading=\"lazy\" decoding=\"async\" width=\"50\" height=\"50\" src=\"http:\/\/www.orphadata.com\/wp-content\/uploads\/2022\/04\/pdf-e1650464741408.png\" class=\"wp-image-6033 style-5442-image style-local-1742-c22-image\" alt=\"\" \/>\n                                          <div class=\"h-image__frame h-hide-lg h-hide-md h-hide-sm style-5442-frameImage style-local-1742-c22-frameImage\"><\/div>\n                                        <\/div>\n                                      <\/a>\n                                    <\/div>\n                                  <\/div>\n                                <\/div>\n                              <\/div>\n                            <\/div>\n                            <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-5441-outer style-local-1742-c23-outer\">\n                              <div data-colibri-id=\"1742-c23\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-5441 style-local-1742-c23 position-relative\">\n                                <!---->\n                                <!---->\n                                <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                                  <!---->\n                                  <div data-colibri-id=\"1742-c24\" class=\"d-block style-5443 style-local-1742-c24 position-relative h-element\">\n                                    <!---->\n                                    <div class=\"h-image__frame-container-outer\">\n                                      <a href=\"http:\/\/www.orphadata.com\/xsd-jpg\/product6_2020_v2_evo.xsd\" target=\"_blank\" h-use-smooth-scroll=\"true\" class=\"image-link\">\n                                        <div class=\"h-image__frame-container\">\n                                          <!---->\n                                          <!---->\n                                          <img loading=\"lazy\" decoding=\"async\" width=\"50\" height=\"50\" src=\"http:\/\/www.orphadata.com\/wp-content\/uploads\/2022\/04\/xsd-1-e1650465137684.png\" class=\"wp-image-6041 style-5443-image style-local-1742-c24-image\" alt=\"\" \/>\n                                          <div class=\"h-image__frame h-hide-lg h-hide-md h-hide-sm style-5443-frameImage style-local-1742-c24-frameImage\"><\/div>\n                                        <\/div>\n                                      <\/a>\n                                    <\/div>\n                                  <\/div>\n                                <\/div>\n                              <\/div>\n                            <\/div>\n                            <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-5444-outer style-local-1742-c25-outer\">\n                              <div data-colibri-id=\"1742-c25\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-5444 style-local-1742-c25 position-relative\">\n                                <!---->\n                                <!---->\n                                <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                                  <!---->\n                                  <div data-colibri-id=\"1742-c26\" class=\"d-block style-5445 style-local-1742-c26 position-relative h-element\">\n                                    <!---->\n                                    <div class=\"h-image__frame-container-outer\">\n                                      <a href=\"http:\/\/www.orphadata.com\/xsd-jpg\/product6_2020_v2_evo.jpg\" target=\"_blank\" h-use-smooth-scroll=\"true\" class=\"image-link\">\n                                        <div class=\"h-image__frame-container\">\n                                          <!---->\n                                          <!---->\n                                          <img loading=\"lazy\" decoding=\"async\" width=\"50\" height=\"50\" src=\"http:\/\/www.orphadata.com\/wp-content\/uploads\/2022\/04\/jpg-e1650465075102.png\" class=\"wp-image-6032 style-5445-image style-local-1742-c26-image\" alt=\"\" \/>\n                                          <div class=\"h-image__frame h-hide-lg h-hide-md h-hide-sm style-5445-frameImage style-local-1742-c26-frameImage\"><\/div>\n                                        <\/div>\n                                      <\/a>\n                                    <\/div>\n                                  <\/div>\n                                <\/div>\n                              <\/div>\n                            <\/div>\n                          <\/div>\n                        <\/div>\n                      <\/div>\n                    <\/div>\n                  <\/div>\n                <\/div>\n              <\/div>\n            <\/div>\n          <\/div>\n        <\/div>\n      <\/div>\n    <\/div>\n  <\/div>\n  <div data-colibri-component=\"section\" data-colibri-id=\"1742-c27\" id=\"reusable-sections-3\" class=\"h-section h-section-global-spacing d-flex align-items-lg-center align-items-md-center align-items-center style-8945 style-local-1742-c27 position-relative\">\n    <!---->\n    <!---->\n    <div class=\"h-section-grid-container h-section-boxed-container\">\n      <!---->\n      <div data-colibri-id=\"1742-c28\" class=\"h-row-container gutters-row-lg-2 gutters-row-md-2 gutters-row-0 gutters-row-v-lg-2 gutters-row-v-md-2 gutters-row-v-2 style-8946 style-local-1742-c28 position-relative\">\n        <!---->\n        <div class=\"h-row justify-content-lg-center justify-content-md-center justify-content-center align-items-lg-stretch align-items-md-stretch align-items-stretch gutters-col-lg-2 gutters-col-md-2 gutters-col-0 gutters-col-v-lg-2 gutters-col-v-md-2 gutters-col-v-2\">\n          <!---->\n          <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-8947-outer style-local-1742-c29-outer\">\n            <div data-colibri-id=\"1742-c29\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-8947 style-local-1742-c29 position-relative\">\n              <!---->\n              <!---->\n              <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                <!---->\n                <div data-colibri-id=\"1742-c30\" class=\"h-text h-text-component style-8948 style-local-1742-c30 position-relative h-element\">\n                  <!---->\n                  <!---->\n                  <div class=\"\">\n                    <p><span style=\"font-weight: 400; font-size: 16px; font-family: Lato; color: rgb(58, 97, 107);\">All files are available under the&nbsp;<\/span>\n                      <a href=\"https:\/\/creativecommons.org\/licenses\/by\/4.0\" style=\"font-weight: 400; font-size: 16px; font-family: Lato; color: rgb(255, 118, 67);\"\n                        class=\"customize-unpreviewable\">Commons Attribution 4.0 International (CC BY 4.0) licence<\/a>\n                    <\/p>\n                  <\/div>\n                <\/div>\n                <div data-colibri-id=\"1742-c31\" class=\"d-block style-8949 style-local-1742-c31 position-relative h-element\">\n                  <!---->\n                  <div class=\"h-image__frame-container-outer\">\n                    <div class=\"h-image__frame-container\">\n                      <!---->\n                      <!---->\n                      <img loading=\"lazy\" decoding=\"async\" width=\"60\" height=\"32\" src=\"http:\/\/www.orphadata.com\/wp-content\/uploads\/2022\/05\/cc-by-e1651665731909.png\" class=\"wp-image-7979 style-8949-image style-local-1742-c31-image\" alt=\"\" \/>\n                      <div class=\"h-image__frame h-hide-lg h-hide-md h-hide-sm style-8949-frameImage style-local-1742-c31-frameImage\"><\/div>\n                    <\/div>\n                  <\/div>\n                <\/div>\n              <\/div>\n            <\/div>\n          <\/div>\n          <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-8950-outer style-local-1742-c32-outer\">\n            <div data-colibri-id=\"1742-c32\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-8950 style-local-1742-c32 position-relative\">\n              <!---->\n              <!---->\n              <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                <!---->\n                <div data-colibri-id=\"1742-c33\" class=\"h-text h-text-component style-8951 style-local-1742-c33 position-relative h-element\">\n                  <!---->\n                  <!---->\n                  <div class=\"\">\n                    <p><span target=\"_blank\" style=\"font-weight: 400; font-size: 16px; font-family: Lato; color: rgb(58, 97, 107);\">These <\/span><span style=\"font-weight: 400; font-size: 16px; font-family: Lato; color: rgb(58, 97, 107);\">products have been recognised as an&nbsp;<\/span>\n                      <a\n                        href=\"https:\/\/elixir-europe.org\/platforms\/data\/core-data-resources\" style=\"font-weight: 400; font-size: 16px; font-family: Lato; color: rgb(255, 118, 67);\" class=\"customize-unpreviewable\" draggable=\"false\">Elixir Core Data Resource<\/a>&nbsp;and a&nbsp;\n                        <a href=\"https:\/\/globalbiodata.org\/scientific-activities\/gcbr-selection\" target=\"_blank\" class=\"customize-unpreviewable\" draggable=\"false\">Global Core Biodata Resource<\/a>\n                    <\/p>\n                  <\/div>\n                <\/div>\n                <div data-colibri-id=\"1742-c34\" class=\"h-row-container gutters-row-lg-2 gutters-row-md-2 gutters-row-0 gutters-row-v-lg-2 gutters-row-v-md-2 gutters-row-v-2 style-8952 style-local-1742-c34 position-relative\">\n                  <!---->\n                  <div class=\"h-row justify-content-lg-center justify-content-md-center justify-content-center align-items-lg-stretch align-items-md-stretch align-items-stretch gutters-col-lg-2 gutters-col-md-2 gutters-col-0 gutters-col-v-lg-2 gutters-col-v-md-2 gutters-col-v-2\">\n                    <!---->\n                    <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-8953-outer style-local-1742-c35-outer\">\n                      <div data-colibri-id=\"1742-c35\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-8953 style-local-1742-c35 position-relative\">\n                        <!---->\n                        <!---->\n                        <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                          <!---->\n                          <div data-colibri-id=\"1742-c36\" class=\"d-block style-8954 style-local-1742-c36 position-relative h-element\">\n                            <!---->\n                            <div class=\"h-image__frame-container-outer\">\n                              <div class=\"h-image__frame-container\">\n                                <!---->\n                  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h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-8955 style-local-1742-c37 position-relative\">\n              <!---->\n              <!---->\n              <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-start align-self-md-start align-self-start\">\n                <!---->\n                <div data-colibri-id=\"1742-c38\" class=\"h-text h-text-component style-8951 style-local-1742-c38 position-relative h-element\">\n                  <!---->\n                  <!---->\n                  <div class=\"\">\n                    <p><span style=\"color: rgb(58, 97, 107); font-family: Lato; font-size: 16px; font-weight: 400;\">These products are an&nbsp;<\/span>\n                      <a href=\"https:\/\/irdirc.org\/resources-2\/irdirc-recognized-resources\" target=\"_blank\">IRDiRC Recognized Resources<\/a>\n                    <\/p>\n                  <\/div>\n                <\/div>\n                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decoding=\"async\" width=\"1641\" height=\"316\" src=\"https:\/\/sciences.orphadata.com\/wp-content\/uploads\/2025\/06\/RF-Inserm_Simplifie_rvb_Noir.png\" class=\"wp-image-14264 style-7088-image style-local-1742-c43-image\" alt=\"\" srcset=\"https:\/\/sciences.orphadata.com\/wp-content\/uploads\/2025\/06\/RF-Inserm_Simplifie_rvb_Noir.png 1641w, https:\/\/sciences.orphadata.com\/wp-content\/uploads\/2025\/06\/RF-Inserm_Simplifie_rvb_Noir-300x58.png 300w, https:\/\/sciences.orphadata.com\/wp-content\/uploads\/2025\/06\/RF-Inserm_Simplifie_rvb_Noir-1024x197.png 1024w, https:\/\/sciences.orphadata.com\/wp-content\/uploads\/2025\/06\/RF-Inserm_Simplifie_rvb_Noir-768x148.png 768w, https:\/\/sciences.orphadata.com\/wp-content\/uploads\/2025\/06\/RF-Inserm_Simplifie_rvb_Noir-1536x296.png 1536w\" sizes=\"auto, (max-width: 1641px) 100vw, 1641px\" \/>\n                        <div class=\"h-image__frame h-hide-lg h-hide-md h-hide-sm style-7088-frameImage style-local-1742-c43-frameImage\"><\/div>\n                      <\/div>\n                    <\/a>\n                  <\/div>\n                <\/div>\n              <\/div>\n            <\/div>\n          <\/div>\n          <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-7087-outer style-local-1742-c44-outer\">\n            <div data-colibri-id=\"1742-c44\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-7087 style-local-1742-c44 position-relative\">\n              <!---->\n              <!---->\n              <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-center align-self-md-center align-self-center\">\n                <!---->\n                <div data-colibri-id=\"1742-c45\" class=\"d-block style-7089 style-local-1742-c45 position-relative h-element\">\n                  <!---->\n                  <div class=\"h-image__frame-container-outer\">\n                    <a href=\"https:\/\/ec.europa.eu\/health\/funding\/eu4health-programme-2021-2027-vision-healthier-european-union_fr\" target=\"_blank\" h-use-smooth-scroll=\"true\" class=\"image-link\">\n                      <div class=\"h-image__frame-container\">\n                        <!---->\n                        <!---->\n                        <img loading=\"lazy\" decoding=\"async\" width=\"200\" height=\"61\" src=\"http:\/\/www.orphadata.com\/wp-content\/uploads\/2022\/04\/Logo_EU_co-funded.svg_-e1649774470526.png\" class=\"wp-image-4972 style-7089-image style-local-1742-c45-image\" alt=\"\" \/>\n                        <div class=\"h-image__frame h-hide-lg h-hide-md h-hide-sm style-7089-frameImage style-local-1742-c45-frameImage\"><\/div>\n                      <\/div>\n                    <\/a>\n                  <\/div>\n                <\/div>\n              <\/div>\n            <\/div>\n          <\/div>\n          <div class=\"h-column h-column-container d-flex h-col-lg-auto h-col-md-auto h-col-auto style-7090-outer style-local-1742-c46-outer\">\n            <div data-colibri-id=\"1742-c46\" class=\"d-flex h-flex-basis h-column__inner h-px-lg-2 h-px-md-2 h-px-2 v-inner-lg-2 v-inner-md-2 v-inner-2 style-7090 style-local-1742-c46 position-relative\">\n              <!---->\n              <!---->\n              <div class=\"w-100 h-y-container h-column__content h-column__v-align flex-basis-100 align-self-lg-center align-self-md-center align-self-center\">\n                <!---->\n                <div data-colibri-id=\"1742-c47\" class=\"d-block style-7091 style-local-1742-c47 position-relative h-element\">\n                  <!---->\n                  <div class=\"h-image__frame-container-outer\">\n                    <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/index.php\" target=\"_blank\" h-use-smooth-scroll=\"true\" class=\"image-link\">\n                      <div class=\"h-image__frame-container\">\n                        <!---->\n                        <!---->\n                        <img decoding=\"async\" src=\"http:\/\/www.orphadata.com\/wp-content\/uploads\/2022\/05\/logo_orphanet_transp_200.png\" class=\"wp-image-8526 style-7091-image style-local-1742-c47-image\" alt=\"\" \/>\n                        <div class=\"h-image__frame h-hide-lg h-hide-md h-hide-sm style-7091-frameImage style-local-1742-c47-frameImage\"><\/div>\n                      <\/div>\n                    <\/a>\n                  <\/div>\n                <\/div>\n              <\/div>\n            <\/div>\n          <\/div>\n        <\/div>\n      <\/div>\n    <\/div>\n  <\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>In order to better define rare diseases of genetic origin, Orphanet provides information on every gene related to a rare disease. XML file is available in English (for another language, contact us). Data are also available through&nbsp; APIs. Orphanet Knowledge base release of December&nbsp;2025 XML Previous versions Please consult the&nbsp; Orphadata Github&nbsp;for previous versions (since [&hellip;]<\/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-1742","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/pages\/1742","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=1742"}],"version-history":[{"count":20,"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/pages\/1742\/revisions"}],"predecessor-version":[{"id":15250,"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/pages\/1742\/revisions\/15250"}],"wp:attachment":[{"href":"https:\/\/sciences.orphadata.com\/wp-json\/wp\/v2\/media?parent=1742"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}