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2015 Activity Report

2015 Activity Report

www.orpha.net

Table of contents Abbreviation list ........................................................................................................................... 4 1.

Overview .............................................................................................................................. 6 1.1. Objective .................................................................................................................................... 6 1.2. Activities ..................................................................................................................................... 6 1.3. Highlights of 2015 ...................................................................................................................... 7 Orphanet international positioning ............................................................................................... 7 Improving transparency and traceability....................................................................................... 7 Orphanet database updates ........................................................................................................... 7 Orphanet documents update ......................................................................................................... 7 Orphanet website information ...................................................................................................... 8 Codification of RD using ORPHA codes .......................................................................................... 8

2.

Orphanet consortium ............................................................................................................ 9 2.1. The RD-ACTION Joint Action ...................................................................................................... 9 2.2. Orphanet Governance ............................................................................................................... 9 2.3. Expansion of the consortium ................................................................................................... 10 2.4. Orphanet members and scope of their activity ...................................................................... 11

3.

Orphanet: Products and Services ......................................................................................... 12 3.1. The Orphanet website ............................................................................................................. 13 3.2. The Orphanet servers .............................................................................................................. 17 3.3. Orphanet inventory of rare diseases ...................................................................................... 18 3.4. Orphanet Rare Diseases Ontology .......................................................................................... 21 3.5. Orphanet inventory of genes .................................................................................................. 22 3.6. Orphanet encyclopaedia.......................................................................................................... 23 3.7. Orphanet directory of expert resources ................................................................................. 30 3.8. Orphanet directory of orphan drugs ....................................................................................... 33 3.9. Orphadata ................................................................................................................................ 33 3.10. Orphanet Report Series ........................................................................................................... 37 3.11. The Orphanews Newsletter ..................................................................................................... 38 3.12. Orphanet Journal of Rare Diseases ............................