Table 1.
Cohorts’ acronyms | Diseases | RDHNa | Corresponding ERNb |
---|---|---|---|
AC-ŒIL | Congenital eye defects |
SENSGENE AnDDI-Rares |
ERN-Eye |
AcoStill | Still’s disease | FAi2R | ERN-Rita |
COLPAC | LPAC syndrome | FILFOIE | RARE-LIVER |
DCP | Primary ciliary dyskinesia | RESPIFIL | ERN-Lung |
ECYSCO | Cystinosis | ORKiD | ERKnet |
EURBIO-Alport | Alport syndrome | ORKiD | ERKnet |
FARD | Rare skin diseases burden | FIMARAD | ERN Skin |
GenIDA | Intellectual deficiency and Autism spectrum disorders |
DéfiScience AnDDi-Rares |
ERN ITHACA |
IDMet | Imprinting disorders |
FIRENDO OSCAR DéfiScience |
ENDO-ERN |
MPS | Mucopolysaccharidoses | G2M | MetabERN |
PID | Idiopathic interstitial pneumonia | RESPIFIL | ERN-Lung |
PP | Periodic paralysis | FILNEMUS | ERN euro-NMD |
SEDVasc | Vascular Ehlers-Danlos syndrome | FAVA-Multi | VASCERN |
aRDNH: Rare Disease Healthcare Network
bERN: European Research Network