Description
The Central Registry of Rare Diseases is a database containing certain basic data of all Belgian patients with a rare disease. At present, data is collected only at the genetic centres, but this will later be extended to other centres in order to gain a complete overview.
The term "rare diseases" is used to refer to diseases that occur in fewer than 1 in 2,000 people. The field of rare diseases is very complex due to the large number of rare diseases (up to 8,000) and the remarkable heterogeneity in these diseases. This complexity and, in particular, the rare nature of the diseases lead to problems in terms of diagnosis, care, treatment and research.
A registry is a valuable source of information for patients and patient organisations, care providers, researchers and authorities, and can contribute to improvements in several areas (including epidemiology, care policy, quality assurance, research, administration).
Resources
| Name | Format | Description | Link |
|---|---|---|---|
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.1.xlsx | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| REPORT_SCRA_CRRD | Open resource | ||
| REPORT_SCRA_CRRD | Open resource | ||
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.0.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| REPORT_SCRA_CRRD | Open resource | ||
| REPORT_SCRA_CRRD | Open resource | ||
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.0.xlsx | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.0.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.0.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.0.xlsx | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal JSON | JSON | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.1.1.xlsx | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_SPEC_HDBP0008_CRRD_v5.2.0 | XLS | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v5.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_01_12012023.csv | CSV | Open resource | |
| REPORT_SCRA_CRRD | Open resource | ||
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders CSV | CSV | Open resource | |
| HD Data Collection Definition of project HDBP0008 CRRD v4.0 20230117 | xlsx | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Basic_Registration_Form_v5.csv | CSV | Open resource | |
| HD_DCD_submcsv_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.csv | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 SCRA CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User JSON | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Central-Registry-for-Rare-Diseases_04_20230428.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Stakeholders JSON | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Data User CSV | CSV | Open resource | |
| HD_DCD_submjson_HDBP0008_CRRD_Basic_Registration_Form_v4.json | JSON | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource | |
| a36012ab-8ab5-4fcf-b86c-c5c191ad14b0 Legal CSV | CSV | Open resource |
Tags
- 10q22.3q23.3-microdeletion-syndrome
- 15q11.2-microdeletion-syndrome
- 15q11q13-microduplication-syndrome
- 15q13.3-microdeletion-syndrome
- 15q14-microdeletion-syndrome
- 16p11.2p12.2-microdeletion-syndrome
- 16p11.2p12.2-microduplication-syndrome
- 16p13.11-microdeletion-syndrome
- 16p13.11-microduplication-syndrome
- 17p11.2-microduplication-syndrome
- 17q11.2-microduplication-syndrome
- 17q12-microdeletion-syndrome
- 17q12-microduplication-syndrome
- 17q21.31-microduplication-syndrome
- 19p13.3-microduplication-syndrome
- 1p21.3-microdeletion-syndrome
- 1p31p32-microdeletion-syndrome
- 1p36-deletion-syndrome
- 1q21.1-microdeletion-syndrome
- 1q21.1-microduplication-syndrome
- 1q44-microdeletion-syndrome
- 20p12.3-microdeletion-syndrome
- 22q11.2-deletion-syndrome
- 22q11.2-microduplication-syndrome
- 2q23.1-microdeletion-syndrome
- 2q31.1-microdeletion-syndrome
- 2q37-microdeletion-syndrome
- 3m-syndrome
- 3p25.3-microdeletion-syndrome
- 3q29-microdeletion-syndrome
- 3q29-microduplication-syndrome
- 47-xyy-syndrome
- 4p16.3-microduplication-syndrome
- 5q14.3-microdeletion-syndrome
- 6q-terminal-deletion-syndrome
- 7p22.1-microduplication-syndrome
- 7q11.23-microduplication-syndrome
- 8p23.1-duplication-syndrome
- 8p23.1-microdeletion-syndrome
- aarskog-scott-syndrome
- acral-peeling-skin-syndrome
- acro-renal-ocular-syndrome
- adams-oliver-syndrome
- adnp-syndrome
- adrenogenital-syndrome
- ahdc1-related-intellectual-disability-obstructive-sleep-apnea-mild-dysmorphism-syndrome
- aicardi-goutières-syndrome
- alagille-syndrome
- alpers-huttenlocher-syndrome
- alpha-thalassemia-x-linked-intellectual-disability-syndrome
- alport-syndrome
- andersen-tawil-syndrome
- aneurysm-osteoarthritis-syndrome
- angelman-syndrome
- angioosteohypertrophic-syndrome
- apert-syndrome
- arterial-tortuosity-syndrome
- arthrochalasia-ehlers-danlos-syndrome
- arthrogryposis-syndrome
- ataxia-hypogonadism-choroidal-dystrophy-syndrome
- ataxia-intellectual-disability-oculomotor-apraxia-cerebellar-cysts-syndrome
- atypical-hemolytic-uremic-syndrome
- atypical-rett-syndrome
- auriculocondylar-syndrome
- autoimmune-hemolytic-anemia-autoimmune-thrombocytopenia-primary-immunodeficiency-syndrome
- autoimmune-lymphoproliferative-syndrome
- autoinflammatory-syndrome-with-skin-involvement
- autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-kif5a-mutation
- autosomal-dominant-charcot-marie-tooth-disease-type-2j
- autosomal-dominant-charcot-marie-tooth-disease-type-2w
- autosomal-dominant-intellectual-disability-craniofacial-anomalies-cardiac-defects-syndrome
- autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-e
- autosomal-dominant-polycystic-kidney-disease
- autosomal-dominant-polycystic-kidney-disease-type-1-with-tuberous-sclerosis
- autosomal-dominant-tubulointerstitial-kidney-disease
- autosomal-ichthyosis-syndrome
- autosomal-recessive-multiple-pterygium-syndrome
- autosomal-recessive-polycystic-kidney-disease
- axenfeld-rieger-syndrome
- bannayan-riley-ruvalcaba-syndrome
- baraitser-winter-cerebrofrontofacial-syndrome
- bardet-biedl-syndrome
- becker-nevus-syndrome
- beckwith-wiedemann-syndrome
- behçet-disease
- birt-hogg-dubé-syndrome
- blepharophimosis-epicanthus-inversus-ptosis-syndrome
- blepharophimosis-intellectual-disability-syndrome-sbbys-type
- bloom-syndrome
- bohring-opitz-syndrome
- borjeson-forssman-lehmann-syndrome
- bor-syndrome
- brachydactyly-arterial-hypertension-syndrome
- brain-lung-thyroid-syndrome
- bruck-syndrome
- brugada-syndrome
- buschke-ollendorff-syndrome
- camurati-engelmann-disease
- cardiofaciocutaneous-syndrome
- cardiospondylocarpofacial-syndrome
- caroli-syndrome
- cataract-glaucoma-syndrome
- cat-eye-syndrome
- celiac-disease
- central-core-disease
- charcot-marie-tooth-disease-hereditary-motor-and-sensory-neuropathy
- charcot-marie-tooth-disease-type-1
- charcot-marie-tooth-disease-type-1a
- charge-syndrome
- chédiak-higashi-syndrome
- classical-ehlers-danlos-syndrome
- classical-like-ehlers-danlos-syndrome-type-1
- clcn4-related-x-linked-intellectual-disability-syndrome
- cloves-syndrome
- coffin-lowry-syndrome
- coffin-siris-syndrome
- cohen-syndrome
- col4a1-or-col4a2-related-cerebral-small-vessel-disease
- congenital-and-infantile-nephrotic-syndrome
- congenital-muscular-dystrophy-respiratory-failure-skin-abnormalities-joint-hyperlaxity-syndrome
- congenital-myasthenic-syndrome
- congenital-nephrotic-syndrome-finnish-type
- cornelia-de-lange-syndrome
- corpus-callosum-agenesis-neuronopathy-syndrome
- costello-syndrome
- cowden-syndrome
- crouzon-disease
- currarino-syndrome
- de-barsy-syndrome
- dent-disease
- desbuquois-syndrome
- developmental-delay-facial-dysmorphism-syndrome-due-to-med13l-deficiency
- diaph1-related-sensorineural-hearing-loss-thrombocytopenia-syndrome
- dislocation-of-the-hip-dysmorphism-syndrome
- distal-16p11.2-microdeletion-syndrome
- distal-17p13.3-microdeletion-syndrome
- distal-22q11.2-microdeletion-syndrome
- distal-22q11.2-microduplication-syndrome
- distal-xq28-microduplication-syndrome
- down-syndrome
- dravet-syndrome
- duane-retraction-syndrome
- dyrk1a-related-intellectual-disability-syndrome
- ectodermal-dysplasia-syndrome
- ectrodactyly-polydactyly-syndrome
- ehlers-danlos-syndrome
- ellis-van-creveld-syndrome
- emanuel-syndrome
- enamel-renal-syndrome
- epidermal-nevus-syndrome
- fabry-disease
- familial-articular-hypermobility-syndrome
- familial-atypical-multiple-mole-melanoma-syndrome
- familial-idiopathic-steroid-resistant-nephrotic-syndrome
- familial-long-qt-syndrome
- familial-short-qt-syndrome
- fatal-congenital-hypertrophic-cardiomyopathy-due-to-glycogen-storage-disease
- fatco-syndrome
- feingold-syndrome
- fetal-alcohol-syndrome
- fetal-valproate-syndrome
- floating-harbor-syndrome
- forme-symptomatique-du-syndrome-de-l'x-fragile-de-la-femme-porteuse
- fragile-x-associated-tremor-ataxia-syndrome
- fragile-x-syndrome
- frontotemporal-dementia-with-motor-neuron-disease
- galloway-mowat-syndrome
- gaucher-disease
- genetic-syndromic-pierre-robin-syndrome
- gilbert-syndrome
- gitelman-syndrome
- glycogen-storage-disease-due-to-acid-maltase-deficiency
- glycogen-storage-disease-due-to-glycogen-debranching-enzyme-deficiency
- glycogen-storage-disease-due-to-liver-phosphorylase-kinase-deficiency
- glycogen-storage-disease-due-to-muscle-glycogen-phosphorylase-deficiency
- glycogen-storage-disease-due-to-phosphoglycerate-kinase-1-deficiency
- goldenhar-syndrome
- gorlin-syndrome
- greig-cephalopolysyndactyly-syndrome
- growth-hormone-insensitivity-syndrome
- hallermann-streiff-syndrome
- hanac-syndrome
- hdbp0008
- health-services-research-(sciensano)
- hereditary-arterial-and-articular-multiple-calcification-syndrome
- hereditary-breast-and-ovarian-cancer-syndrome
- hermansky-pudlak-syndrome
- hirschsprung-disease
- holt-oram-syndrome
- huntington-disease
- hyaline-fibromatosis-syndrome
- hyper-igm-syndrome-with-susceptibility-to-opportunistic-infections
- hypermobile-ehlers-danlos-syndrome
- hypoparathyroidism-sensorineural-deafness-renal-disease-syndrome
- hypotonia-cystinuria-syndrome
- icd10-a00–b99
- icd10-c00–d48
- icd10-d50–d89
- icd10-e00–e90
- icd10-f00–f99
- icd10-g00–g99
- icd10-h00–h59
- icd10-h60–h95
- icd10-i00–i99
- icd10-j00–j99
- icd10-k00–k93
- icd10-l00–l99
- icd10-m00–m99
- icd10-n00–n99
- icd10-o00–o99
- icd10-p00–p96
- icd10-q00–q96
- immunodeficiency-syndrome-with-autoimmunity
- inclusion-body-myopathy-with-paget-disease-of-bone-and-frontotemporal-dementia
- infantile-epilepsy-syndrome
- inherited-cancer-predisposing-syndrome
- inherited-cancer-predisposing-syndrome-due-to-biallelic-brca2-mutations
- inherited-creutzfeldt-jakob-disease
- intellectual-disability-cardiac-anomalies-short-stature-joint-laxity-syndrome
- intellectual-disability-craniofacial-dysmorphism-cryptorchidism-syndrome
- intellectual-disability-developmental-delay-contractures-syndrome
- intellectual-disability-facial-dysmorphism-syndrome-due-to-setd5-haploinsufficiency
- intellectual-disability-feeding-difficulties-developmental-delay-microcephaly-syndrome
- intellectual-disability-microcephaly-strabismus-behavioral-abnormalities-syndrome
- intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome
- intellectual-disability-sparse-hair-brachydactyly-syndrome
- interstitial-lung-disease-due-to-sp-c-deficiency
- ischiovertebral-syndrome
- isolated-klippel-feil-syndrome
- isolated-pierre-robin-syndrome
- isolated-polycystic-liver-disease
- jeune-syndrome
- joubert-syndrome
- kabuki-syndrome
- kagami-ogata-syndrome
- kallmann-syndrome
- kbg-syndrome
- kearns-sayre-syndrome
- keipert-syndrome
- king-denborough-syndrome
- kleefstra-syndrome
- klinefelter-syndrome
- knobloch-syndrome
- koolen-de-vries-syndrome
- kostmann-syndrome
- kurzrippen-polydaktylie-syndrome
- lamb-shaffer-syndrome
- leber-plus-disease
- legius-syndrome
- li-fraumeni-syndrome
- linear-nevus-sebaceus-syndrome
- loeys-dietz-syndrome
- lynch-syndrome
- macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome
- maffucci-syndrome
- malan-overgrowth-syndrome
- mandibular-hypoplasia-deafness-progeroid-features-lipodystrophy-syndrome
- mandibulofacial-dysostosis-microcephaly-syndrome
- marfan-syndrome
- mayer-rokitansky-küster-hauser-syndrome
- mccune-albright-syndrome
- megalencephaly-capillary-malformation-polymicrogyria-syndrome
- mend-syndrome
- microcephaly-lymphedema-chorioretinopathy-syndrome
- microduplication-xp11.22p11.23-syndrome
- micrognathia-recurrent-infections-behavioral-abnormalities-mild-intellectual-disability-syndrome
- mme-related-autosomal-dominant-charcot-marie-tooth-disease-type-2
- moebius-syndrome
- monogenic-disease-with-epilepsy
- mowat-wilson-syndrome
- muir-torre-syndrome
- multifocal-lymphangioendotheliomatosis-thrombocytopenia-syndrome
- multiple-congenital-anomalies-hypotonia-seizures-syndrome-type-2
- musculocontractural-ehlers-danlos-syndrome
- myasthenische-syndrome,-kongenitale-postsynaptische
- myhre-syndrome
- myopathic-ehlers-danlos-syndrome
- nail-patella-syndrome
- nance-horan-syndrome
- narp-syndrome
- national-institute-for-health-and-disability-insurance-(nihdi)
- neurodevelopmental-disorder-craniofacial-dysmorphism-cardiac-defect-skeletal-anomalies-syndrome
- neuromuscular-disease
- niemann-pick-disease-type-b
- niemann-pick-disease-type-c
- nlrc4-related-familial-cold-autoinflammatory-syndrome
- nlrp12-associated-hereditary-periodic-fever-syndrome
- noonan-syndrome
- noonan-syndrome-like-disorder-with-juvenile-myelomonocytic-leukemia
- noonan-syndrome-like-disorder-with-loose-anagen-hair
- noonan-syndrome-with-multiple-lentigines
- occipital-horn-syndrome
- oculocerebrofacial-syndrome-kaufman-type
- oculocerebrorenal-syndrome-of-lowe
- oculofaciocardiodental-syndrome
- ollier-disease
- omenn-syndrome
- ondine-syndrome
- optic-atrophy-peripheral-neuropathy-developmental-delay-syndrome
- orofaciodigital-syndrome-type-1
- otomandibular-syndrome
- overgrowth-syndrome
- peeling-skin-syndrome-type-acral
- peho-syndrome
- pelizaeus-merzbacher-disease
- pendred-syndrome
- pens-syndrome
- peroxisomal-disease
- persistent-müllerian-duct-syndrome
- peters-plus-syndrome
- peutz-jeghers-syndrome
- pfeiffer-syndrome
- phace-syndrome
- pik3ca-related-overgrowth-syndrome
- pitt-hopkins-like-syndrome
- pitt-hopkins-syndrome
- pituitary-stalk-interruption-syndrome
- poland-syndrome
- polyvalvular-heart-disease-syndrome
- prader-willi-syndrome
- primary-fanconi-syndrome
- primary-tethered-cord-syndrome
- proteus-syndrome
- proximal-16p11.2-microdeletion-syndrome
- proximal-16p11.2-microduplication-syndrome
- pten-hamartoma-tumor-syndrome
- pura-related-severe-neonatal-hypotonia-seizures-encephalopathy-syndrome
- rapid-onset-childhood-obesity-hypothalamic-dysfunction-hypoventilation-autonomic-dysregulation-syndrome
- rare-bone-disease
- rare-cardiac-disease
- rare-disease-with-autism
- rare-disease-with-malignant-hyperthermia
- rare-endocrine-disease
- rare-endocrine-growth-disease
- rare-gastroenterologic-disease
- rare-genetic-disease
- rare-genetic-hepatic-disease
- rare-neurodegenerative-disease
- rare-neurologic-disease
- rare-neurologic-disease-with-psychiatric-involvement
- rare-renal-disease
- renal-cysts-and-diabetes-syndrome
- rett-syndrome
- ring-chromosome-18-syndrome
- ring-chromosome-20-syndrome
- ring-chromosome-22-syndrome
- roberts-syndrome
- rothmund-thomson-syndrome
- rubinstein-taybi-syndrome
- saethre-chotzen-syndrome
- senior-boichis-syndrome
- senior-loken-syndrome
- sensory-ataxic-neuropathy-dysarthria-ophthalmoparesis-syndrome
- severe-feeding-difficulties-failure-to-thrive-microcephaly-due-to-asxl3-deficiency-syndrome
- severe-intellectual-disability-poor-language-strabismus-grimacing-face-long-fingers-syndrome
- severe-intellectual-disability-progressive-spastic-diplegia-syndrome
- short-rib-polydactyly-syndrome
- short-stature-advanced-bone-age-early-onset-osteoarthritis-syndrome
- short-stature-optic-atrophy-pelger-huët-anomaly-syndrome
- sickle-cell-hemoglobin-ss-disease
- silver-russell-syndrome
- simpson-golabi-behmel-syndrome
- sin3a-related-intellectual-disability-syndrome
- smith-lemli-opitz-syndrome
- smith-magenis-syndrome
- sotos-syndrome
- spondylometaphyseal-dysplasia-cone-rod-dystrophy-syndrome
- sporadic-idiopathic-steroid-resistant-nephrotic-syndrome
- stargardt-disease
- stickler-syndrome
- sturge-weber-syndrome
- stüve-wiedemann-syndrome
- symptomatic-form-of-fragile-x-syndrome-in-female-carrier
- syndrome-3m
- syndrome-47,xyy
- syndrome-acro-réno-oculaire
- syndrome-adnp
- syndrome-angio-ostéo-hypertrophique
- syndrome-associated-with-hypertrophic-cardiomyopathy
- syndrome-auriculo-condylaire
- syndrome-avec-croissance-excessive
- syndrome-bor
- syndrome-cardio-facio-cutané
- syndrome-cerveau-poumon-thyroïde
- syndrome-charge
- syndrome-cloves
- syndrome-cubito-mammaire
- syndrome-d'aarskog-scott
- syndrome-d'adams-oliver
- syndrome-d'agénesie-du-corps-calleux-neuropathie
- syndrome-d'aicardi-goutières
- syndrome-d'alagille
- syndrome-d'alagille-dû-à-une-microdélétion-20p12
- syndrome-d'alagille-dû-à-une-mutation-ponctuelle-de-jag1
- syndrome-d'alcoolisation-foetale
- syndrome-d'alpers-huttenlocher
- syndrome-d'alport
- syndrome-d'alport-autosomique-dominant
- syndrome-d'alport-autosomique-récessif
- syndrome-d'alport-lié-à-l'x
- syndrome-d'alport-lié-à-l'x-léiomyomatose-diffuse
- syndrome-d'amélogenèse-imparfaite-néphrocalcinose
- syndrome-d'andersen-tawil
- syndrome-d'anémie-hémolytique-autoimmune-thrombocytopénie-autoimmune-déficit-immunitaire-primaire
- syndrome-d'angelman
- syndrome-d'angelman-dû-à-une-délétion-15q11q13-d'origine-maternelle
- syndrome-d'anomalies-congénitales-multiples-hypotonie-épilepsie-type-2
- syndrome-d'anomalies-oculaires-neuropathie-axonale-retard-de-développement
- syndrome-d'apert
- syndrome-d'ataxie-déficience-intellectuelle-apraxie-oculomotrice-kystes-cérébelleux
- syndrome-d'ataxie-hypogonadisme-dystrophie-choroïdienne
- syndrome-d'ataxie-neuropathique-sensorielle-dysarthrie-ophtalmoplégie
- syndrome-d'ataxie-spinocérébelleuse-neuropathie-axonale-type-2
- syndrome-d'axenfeld-rieger
- syndrome-de-bannayan-riley-ruvalcaba
- syndrome-de-baraitser-winter-cérébrofrontofacial
- syndrome-de-bardet-biedl
- syndrome-de-beckwith-wiedemann
- syndrome-de-beckwith-wiedemann-dû-à-un-défaut-d'empreinte-de-la-région-11p15
- syndrome-de-beckwith-wiedemann-dû-à-une-disomie-uniparentale-d'origine-paternelle-du-chromosome-11
- syndrome-de-blépharophimosis-déficience-intellectuelle-type-sbbys
- syndrome-de-blépharophimosis-ptosis-épicanthus-inversus
- syndrome-de-bloom
- syndrome-de-bohring-opitz
- syndrome-de-borjeson-forssman-lehmann
- syndrome-de-brachydactylie-hypertension-artérielle
- syndrome-de-bruck
- syndrome-de-brugada
- syndrome-de-buschke-ollendorff
- syndrome-de-cataracte-glaucome
- syndrome-de-céphalopolysyndactylie-de-greig
- syndrome-de-chédiak-higashi
- syndrome-de-coffin-lowry
- syndrome-de-coffin-siris
- syndrome-de-cohen
- syndrome-de-cornelia-de-lange
- syndrome-de-costello
- syndrome-de-cowden
- syndrome-de-croissance-excessive-de-malan
- syndrome-d'ectrodactylie-polydactylie
- syndrome-de-currarino
- syndrome-de-de-barsy-associé-à-pycr1
- syndrome-de-déficience-intellectuelle-apnée-obstructive-du-sommeil-dysmorphie-modérée-associé-à-ahdc1
- syndrome-de-déficience-intellectuelle-associé-à-dyrk1a-dû-à-une-microdélétion-21q22.13-q22.2
- syndrome-de-déficience-intellectuelle-diplégie-spastique-progressive
- syndrome-de-déficience-intellectuelle-dysmorphie-faciale-par-haploinsuffisance-de-setd5
- syndrome-de-déficience-intellectuelle-liée-à-l'x-hypotonie-dysmorphie-faciale-comportement-agressif
- syndrome-de-déficience-intellectuelle-retard-de-développement-contractures
- syndrome-de-déficience-intellectuelle-sévère-trouble-du-langage-strabisme-visage-grimaçant-doigts-longs
- syndrome-de-déficience-intellectuelle-troubles-de-l'alimentation-retard-de-développement-microcéphalie
- syndrome-de-déficience-intellectuelle-trouble-sévère-du-langage-dysmorphie-modérée
- syndrome-de-délétion-1p36
- syndrome-de-délétion-22q11.2
- syndrome-de-délétion-6q-terminale
- syndrome-de-desbuquois
- syndrome-de-dravet
- syndrome-de-duane
- syndrome-de-duplication-8p23.1
- syndrome-de-duplication-inversée-du-chromosome-15
- syndrome-de-dysostose-mandibulo-faciale-microcéphalie
- syndrome-de-dysplasie-spondylo-métaphysaire-dystrophie-des-cônes-et-des-bâtonnets
- syndrome-de-fanconi-primitif-rénotubulaire
- syndrome-de-feingold
- syndrome-de-feingold-type-2
- syndrome-de-fièvre-périodique-héréditaire-lié-à-nlrp12
- syndrome-de-floating-harbor
- syndrome-de-galloway-mowat
- syndrome-de-gitelman
- syndrome-de-gorlin
- syndrome-de-grande-taille-déficience-intellectuelle-dysmorphie-faciale
- syndrome-de-hallermann-streiff
- syndrome-de-hermansky-pudlak
- syndrome-de-hermansky-pudlak-sans-fibrose-pulmonaire
- syndrome-d'ehlers-danlos
- syndrome-d'ehlers-danlos-classique
- syndrome-d'ehlers-danlos-classique-like-type-1
- syndrome-d'ehlers-danlos-hypermobile
- syndrome-d'ehlers-danlos-musculocontractural
- syndrome-d'ehlers-danlos-myopathique
- syndrome-d'ehlers-danlos-vasculaire
- syndrome-de-holt-oram
- syndrome-de-hurler
- syndrome-de-jeune
- syndrome-de-joubert
- syndrome-de-kagami-ogata-lié-à-une-disomie-uniparentale-paternelle-du-chromosome-14
- syndrome-de-kallmann
- syndrome-de-kearns-sayre
- syndrome-de-keipert
- syndrome-de-king-denborough
- syndrome-de-kleefstra
- syndrome-de-kleefstra-dû-à-une-microdélétion-9q34
- syndrome-de-kleefstra-dû-à-une-mutation-ponctuelle
- syndrome-de-klippel-feil-isolé
- syndrome-de-klippel-trénaunay
- syndrome-de-knobloch
- syndrome-de-koolen-de-vries
- syndrome-de-kostmann
- syndrome-de-la-corne-occipitale
- syndrome-de-la-maladie-cardiaque-polyvalvulaire
- syndrome-de-legius
- syndrome-de-li-fraumeni
- syndrome-d'ellis-van-creveld
- syndrome-de-loeys-dietz
- syndrome-de-luxation-de-la-hanche-dysmorphie
- syndrome-de-l'x-fragile
- syndrome-de-lymphangioendothéliomatose-multifocale-thrombocytopénie
- syndrome-de-lynch
- syndrome-de-maffucci
- syndrome-d'emanuel
- syndrome-de-marfan
- syndrome-de-marfan-type-1
- syndrome-de-mayer-rokitansky-küster-hauser-type-2
- syndrome-de-mccune-albright
- syndrome-de-microcéphalie-lymphoedème-choriorétinopathie
- syndrome-de-microdélétion-10q22.3q23.3
- syndrome-de-microdélétion-15q11.2
- syndrome-de-microdélétion-15q13.3
- syndrome-de-microdélétion-15q14
- syndrome-de-microdélétion-15q24
- syndrome-de-microdélétion-16p11.2-distale
- syndrome-de-microdélétion-16p11.2p12.2
- syndrome-de-microdélétion-16p11.2-proximale
- syndrome-de-microdélétion-16p13.11
- syndrome-de-microdélétion-17p13.3-distale
- syndrome-de-microdélétion-17q12
- syndrome-de-microdélétion-17q21.31
- syndrome-de-microdélétion-1p21.3
- syndrome-de-microdélétion-1p31p32
- syndrome-de-microdélétion-1q21.1
- syndrome-de-microdélétion-1q44
- syndrome-de-microdélétion-20p12.3
- syndrome-de-microdélétion-22q11.2-distale
- syndrome-de-microdélétion-2q23.1
- syndrome-de-microdélétion-2q31.1
- syndrome-de-microdélétion-2q37
- syndrome-de-microdélétion-3p25.3
- syndrome-de-microdélétion-3q29
- syndrome-de-microdélétion-5q14.3
- syndrome-de-microdélétion-8p23.1
- syndrome-de-microduplication-15q11q13
- syndrome-de-microduplication-16p11.2p12.2
- syndrome-de-microduplication-16p11.2-proximale
- syndrome-de-microduplication-16p13.11
- syndrome-de-microduplication-17p11.2
- syndrome-de-microduplication-17q11.2
- syndrome-de-microduplication-17q12
- syndrome-de-microduplication-17q21.31
- syndrome-de-microduplication-19p13.3
- syndrome-de-microduplication-1q21.1
- syndrome-de-microduplication-22q11.2
- syndrome-de-microduplication-22q11.2-distale
- syndrome-de-microduplication-3q29
- syndrome-de-microduplication-4p16.3
- syndrome-de-microduplication-7p22.1
- syndrome-de-microduplication-7q11.23
- syndrome-de-microduplication-xp11.22p11.23
- syndrome-de-microduplication-xq28-distale
- syndrome-de-moebius
- syndrome-de-mowat-wilson
- syndrome-de-mowat-wilson-dû-à-une-monosomie-2q22
- syndrome-de-mowat-wilson-dû-à-une-mutation-ponctuelle-de-zeb2
- syndrome-de-muir-torre
- syndrome-de-myhre
- syndrome-de-myopathie-à-inclusions-maladie-de-paget-démence-fronto-temporale
- syndrome-de-nance-horan
- syndrome-de-noonan
- syndrome-de-noonan-avec-lentigines-multiples
- syndrome-de-pendred
- syndrome-de-persistance-des-canaux-de-müller
- syndrome-de-peters-plus
- syndrome-de-petite-taille-âge-osseux-avancé-arthrose-précoce
- syndrome-de-petite-taille-atrophie-optique-anomalie-de-pelger-huët
- syndrome-de-peutz-jeghers
- syndrome-de-pfeiffer
- syndrome-de-pierre-robin-isolé
- syndrome-de-pitt-hopkins
- syndrome-de-poland
- syndrome-de-prader-willi
- syndrome-de-prader-willi-dû-à-une-délétion-15q11q13-d'origine-paternelle
- syndrome-de-prader-willi-dû-à-une-délétion-15q11q13-d'origine-paternelle-de-type-1
- syndrome-de-prader-willi-dû-à-une-disomie-uniparentale-maternelle-du-chromosome-15
- syndrome-de-prader-willi-dû-à-une-mutation-d'empreinte
- syndrome-de-prader-willi-like-associé-à-magel2
- syndrome-de-protée
- syndrome-de-retard-de-développement-dysmorphie-faciale-par-déficit-en-med13l
- syndrome-de-rett
- syndrome-de-rett-atypique
- syndrome-de-roberts
- syndrome-de-rothmund-thomson
- syndrome-de-rubinstein-taybi
- syndrome-de-rubinstein-taybi-par-haploinsuffisance-de-ep300
- syndrome-de-saethre-chotzen
- syndrome-des-côtes-courtes-polydactylie
- syndrome-de-senior-loken
- syndrome-de-silver-russell
- syndrome-de-silver-russell-dû-à-un-défaut-d'empreinte-de-la-région-11p15
- syndrome-de-silver-russell-dû-à-une-disomie-uniparentale-maternelle-du-chromosome-7
- syndrome-de-silver-russell-dû-à-une-microduplication-11p15
- syndrome-de-simpson-golabi-behmel
- syndrome-de-smith-lemli-opitz
- syndrome-de-smith-magenis
- syndrome-de-sotos
- syndrome-des-ptérygiums-multiples-autosomique-récessif
- syndrome-de-stickler
- syndrome-de-stickler-autosomique-récessif
- syndrome-de-stickler-type-1
- syndrome-de-stickler-type-2
- syndrome-de-sturge-weber
- syndrome-de-stüve-wiedemann
- syndrome-de-temple-lié-à-une-disomie-uniparentale-maternelle-du-chromosome-14
- syndrome-de-tibia-aplasique-ectrodactylie
- syndrome-de-tortuosité-artérielle
- syndrome-de-townes-brocks
- syndrome-de-treacher-collins
- syndrome-de-trismus-pseudocamptodactylie
- syndrome-de-troubles-sévères-de-l'alimentation-retard-staturo-pondéral-microcéphalie-par-déficit-en-asxl3
- syndrome-de-turner
- syndrome-de-turner-par-anomalies-de-structure-du-chromosome-x
- syndrome-de-van-der-woude
- syndrome-de-waardenburg
- syndrome-de-waardenburg-shah
- syndrome-de-wiedemann-steiner
- syndrome-de-williams
- syndrome-de-wolf-hirschhorn
- syndrome-de-wolfram
- syndrome-de-wolfram-like
- syndrome-de-zellweger
- syndrome-d'hypermobilité-articulaire-familiale
- syndrome-d'hypoparathyroïdie-surdité-neurosensorielle-dysplasie-rénale
- syndrome-d'hypoplasie-mandibulaire-surdité-apparence-progéroïde-lipodystrophie
- syndrome-d'hypotonie-cystinurie
- syndrome-d'hypotonie-épilepsie-encéphalopathie-sévère-neonatale-associé-à-pura-dû-à-une-mutation-ponctuelle
- syndrome-d'insensibilité-à-l'hormone-de-croissance
- syndrome-d'omenn
- syndrome-d'ondine
- syndrome-du-cat-eye
- syndrome-du-chromosome-18-en-anneau
- syndrome-du-chromosome-20-en-anneau
- syndrome-du-chromosome-22-en-anneau
- syndrome-du-naevus-de-becker
- syndrome-du-naevus-épidermique
- syndrome-du-naevus-sébacé-linéaire
- syndrome-du-qt-court-familial
- syndrome-du-qt-long-familial
- syndrome-d'usher-type-1
- syndrome-d'usher-type-2
- syndrome-épileptique-du-nourrisson
- syndrome-familial-des-naevus-atypiques
- syndrome-hanac
- syndrome-hémolytique-et-urémique-atypique
- syndrome-héréditaire-de-prédisposition-au-cancer-du-sein-et-de-l'ovaire
- syndrome-hyper-igm-lié-à-l'x
- syndrome-ischio-vertébral
- syndrome-kabuki
- syndrome-kbg
- syndrome-lymphoprolifératif-auto-immun
- syndrome-mégalencéphalie-malformation-capillaire-polymicrogyrie
- syndrome-mend
- syndrome-myasthénique-congénital
- syndrome-myéloprolifératif-transitoire
- syndrome-nail-patella
- syndrome-narp
- syndrome-néphrotique-congénital-type-finlandais
- syndrome-néphrotique-corticorésistant-d'origine-génétique
- syndrome-noonan-like-avec-cheveux-anagènes-caducs
- syndrome-noonan-like-avec-leucémie-myélomonocytaire-juvénile
- syndrome-oculo-cérébro-facial-type-kaufman
- syndrome-oculo-cérébro-rénal-de-lowe
- syndrome-oculo-facio-cardio-dentaire
- syndrome-oro-facio-digital-type-1
- syndrome-peho
- syndrome-périodique-associé-au-récepteur-1-du-facteur-de-nécrose-tumorale
- syndrome-phace
- syndrome-tarp
- syndrome-tremblement-ataxie-lié-à-une-prémutation-de-l'x-fragile
- syndrome-trichorhinophalangien-type-2
- syndrome-trichorhinophalangien-types-1-et-3
- syndrome-wagr
- tall-stature-intellectual-disability-facial-dysmorphism-syndrome
- tarp-syndrome
- tay-sachs-disease
- tbck-related-intellectual-disability-syndrome
- temple-syndrome
- thomsen-and-becker-disease
- tibial-aplasia-ectrodactyly-syndrome
- toriello-lacassie-droste-syndrome
- townes-brocks-syndrome
- transient-myeloproliferative-syndrome
- treacher-collins-syndrome
- trichorhinophalangeal-syndrome-type-1-and-3
- trichorhinophalangeal-syndrome-type-2
- trismus-pseudocamptodactyly-syndrome
- tumor-necrosis-factor-receptor-1-associated-periodic-syndrome
- turner-syndrome
- ulnar-mammary-syndrome
- unverricht-lundborg-disease
- usher-syndrome
- van-der-woude-syndrome
- vascular-ehlers-danlos-syndrome
- vitiligo-associated-autoimmune-disease
- von-hippel-lindau-disease
- waardenburg-shah-syndrome
- waardenburg-syndrome
- wac-related-facial-dysmorphism-developmental-delay-behavioral-abnormalities-syndrome
- wagr-syndrome
- wiedemann-steiner-syndrome
- williams-syndrome
- wilson-disease
- wolf-hirschhorn-syndrome
- wolfram-like-syndrome
- wolfram-syndrome
- x-linked-alport-syndrome-diffuse-leiomyomatosis
- x-linked-charcot-marie-tooth-disease
- x-linked-charcot-marie-tooth-disease-type-1
- x-linked-charcot-marie-tooth-disease-type-2
- x-linked-ichthyosis-syndrome
- x-linked-intellectual-disability-hypotonia-facial-dysmorphism-aggressive-behavior-syndrome
- x-linked-intellectual-disability-hypotonia-movement-disorder-syndrome
- xq25-microduplication-syndrome
- zellweger-syndrome