Metadata collection from catalogs

[S2Ola]

Actions:

1. Collect the metadata in the EU-RD Platform
2. Create a list of the metadata
3. Map the metdata to the Application ontology

[S2Ola]

Metadata of registry:

• General information:

  • Acronym
  • Medical area
  • Type of Registry
  • Other type
  • Description
  • Registry is member of Eurocat?
  • Website
  • Sponsors

• Rare diseases

  • Name of the disease
  • Registry information
  • Institution
  • Facility
  • Department
  • Street & number
  • Postcode City
  • Country

• Responsible for the registry

  • Contact person
  • Position
  • E-Mail address
  • Phone number

• Biobanks

  • Biobank name
  • Registry of biobanks
  • Biobank identifier

• Additional components

  • Name of the component
  • Component described in Relationship component-registry

[S2Ola]

List of ERN Registries: Network Name | Description

1. ERN BOND | European Reference Network on bone disorders
2. ERN CRANIO | European Reference Network on craniofacial anomalies and ear, nose and throat (ENT) disorders
3. Endo-ERN | European Reference Network on endocrine conditionsm
4. ERN EpiCARE | European Reference Network on epilepsies
5. ERKNet | European Reference Network on kidney diseases
6. ERN-RND | European Reference Network on neurological diseases
7. ERNICA | European Reference Network on inherited and congenital anomalies
8. ERN LUNG | European Reference Network on respiratory diseases
9. ERN Skin | European Reference Network on skin disorders
10. ERN EURACAN | European Reference Network on adult cancers (solid tumours)
11. ERN EuroBloodNet | European Reference Network on haematological diseases
12. ERN eUROGEN | European Reference Network on urogenital diseases and conditions
13. ERN EURO-NMD | European Reference Network on neuromuscular diseases
14. ERN EYE | European Reference Network on eye diseases
15. ERN GENTURIS | European Reference Network on genetic tumour risk syndromes
16. ERN GUARD-HEART | European Reference Network on diseases of the heart
17. ERN ITHACA | European Reference Network on congenital malformations and rare intellectual disability
18. MetabERN | European Reference Network on hereditary metabolic disorders
19. ERN PaedCan | European Reference Network on paediatric cancer (haemato-oncology)
20. ERN RARE-LIVER | European Reference Network on hepatological diseases
21. ERN ReCONNET | European Reference Network on connective tissue and musculoskeletal diseases
22. ERN RITA | European Reference Network on immunodeficiency, autoinflammatory and autoimmune diseases
23. ERN TRANSPLANT-CHILD | European Reference Network on Transplantation in Children
24. VASCERN | European Reference Network on Rare Multisystemic Vascular Diseases

[rajaram5]

Not a relevant issue for this repository