9. Orphanet‐ERN collaborations

European Reference Networks (ERNs), are virtual networks of expertise tackling rare and complex diseases management, requiring highly specialized treatment and resources, involving healthcare providers across Europe. Orphanet as rare diseases nomenclature reference provider closely collaborates with ERNs in order to update Rare Diseases knowlegde according to the medical and scientific specialists of the related fields.

• For more information related to ERNs: click here

• For the detailed procedure of Orphanet collaboration with Networks of expertise: Orphanet-ERN collaboration procedural document

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Follow up table and status of ongoing Orphanet-ERN collaborations [as of July 2026] This table is updated biannually in December/July in order to help users to follow current collaborations

ERN	Group Revised/ to be revised	Group Revised/ to be revised	Weight of the collaboration	Collaboration main goal	Started	Status   [July 2026]	Finalization    [expected date]
ERN TransplantChild	ORPHA:506210	Rare disorder potentially indicated for liver transplant	Medium-low complexity	Classification	September 2023	Implementing
ERN TransplantChild	ORPHA:506222	Rare disorder potentially indicated for lung transplant	Medium-low complexity	Classification	September 2023	Implementing
ERN TransplantChild	ORPHA:506225	Rare disorder potentially indicated for heart transplant	Medium-low complexity	Classification	September 2023	Implementing
ERN TransplantChild	ORPHA:506213	Rare disorder potentially indicated for kidney transplant	Medium complexity	Classification	September 2023	Implementing
ERN TransplantChild	ORPHA:506219	Rare disorder potentially indicated for HSC transplant	Medium complexity	Classification	September 2023	Implementing
ERN TransplantChild	ORPHA:506216	Rare disorder potentially indicated for bowel transplant	Medium-low complexity	Classification	September 2023	Pending
ERN GUARD-Heart	ORPHA:218436	Rare cardiac rhythm disease	Medium-low complexity	Nomenclature & classification	October 2025	Ongoing	July 2026
ERN EURO-NMD	ORPHA:98486	Metabolic myopathies	Medium-high complexity	Nomenclature & classification	January 2025	Ongoing	2026/ early 2027
Inter ERN Mito-WG	ORPHA:68380	Mitochondrial disease	High complexity	Classification	May 2024	Ongoing	2027
MetabERN	ORPHA:289899	Organic aciduria	Medium-high complexity	Nomenclature & classification	February 2024	Ongoing	2027
ERN RND	ORPHA:68356	Leukodystrophy	Medium-low complexity	Nomenclature & classification	January 2025	Ongoing	2026/ early 2027
ERN RND	ORPHA:98006	Hereditary spastic paraplegia	Medium-high complexity	Nomenclature & classification	January 2025	Ongoing	2026/ early 2027
ERN RND	ORPHA:282	Frontotemporal dementia	Medium-low complexity	Nomenclature & classification	March 2025	Ongoing	2026/ early 2027
ERN RND	ORPHA:306719	Chorea	Low complexity	Nomenclature & classification	April 2025	Ongoing	2027
ERN SKIN	ORPHA:79373	Ectodermal dysplasia syndrome	Medium complexity	Nomenclature & classification	December 2025	Ongoing	2026/ early 2027
ERN SKIN	ORPHA:79354	Ichthyosis	Medium complexity	Nomenclature & classification	January 2026	Ongoing	2026/ early 2027
ERN SKIN	ORPHA:79357	Hereditary palmoplantar keratoderma	Medium complexity	Nomenclature & classification	February 2026	Pending
ERN PaedCan/SIOPE	NA	Pediatric cancer - renal tumors	Medium complexity	Creation of the classification	October 2024	Pending
ERN PaedCan/SIOPE	NA	Pediatric cancer - CNS tumors	High complexity	Creation of the classification	October 2026	Pending
ERN PaedCan/SIOPE	NA	Pediatric cancer - Adrenal tumors	Medium complexity	Creation of the classification	October 2025	Ongoing	2026/ early 2027
ERN PaedCan/SIOPE	NA	Pediatric cancer - Pancreatic tumors	Medium complexity	Creation of the classification	October 2025	Ongoing	2026/ early 2028
ERN EURO-NMD	ORPHA:98486	Metabolic myopathies	Medium-high complexity	Nomenclature & classification	January 2025	Ongoing	2027
ERN EURO-NMD	ORPHA:98473	Dystrophic myopathy	Medium-low complexity	Nomenclature & classification	February 2025	Ongoing	2027
ERN EURO-NMD	ORPHA:97245	Congenital myopathy	Medium-low complexity	Nomenclature & classification	March 2025	Ongoing	2027
ERN LUNG	ORPHA:182095	Interstitial lung disease	Medium-high complexity	Nomenclature & classification	May 2026	Starting	2027
ERN LUNG	ORPHA:71198	Rare pulmonary hypertension	Medium complexity	Nomenclature & classification	July 2026	Starting	2027
ERN RARE LIVER	ORPHA:447771	Sclerosing cholangitis	Low complexity	Nomenclature & classification	July 2027	Pending	2027

ERNs List (24)

European Reference Network on Rare Bone Disorders - ERN BOND

European Reference Network on Rare craniofacial anomalies and ENT disorders - ERN CRANIO

European Reference Network on Rare Endocrine Conditions - Endo-ERN

European Reference Network on Rare and Complex Epilepsies - EpiCARE

European Rare Kidney Diseases Reference Network - ERKNet

European Reference Network on Rare Neurological Diseases - ERN-RND

European Reference Network on Rare inherited and congenital anomalies - ERNICA

European Reference Network on Respiratory Diseases - ERN-LUNG

European Reference Network on Rare and Undiagnosed Skin Disorders - ERN-Skin

European Reference Network on Rare Adult Cancers (solid tumors) - EURACAN

European Reference Network on Rare Hematological Diseases - EuroBloodNet

European Reference Network for Rare Neuromuscular Diseases - EURO-NMD

European Reference Network on Rare Eye Diseases - ERN-EYE

European Reference Network on GENetic TUmour RIsk Syndromes - ERN GENTURIS

Rare Urogenital Diseases - EUROGEN

Gateway to Uncommon And Rare Diseases of the HEART - GUARD-HEART

European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability - ITHACA

European Reference Network for Rare Hereditary Metabolic Disorders - MetabERN

European Reference Network for Paediatric Cancer (haemato-oncology) - PaedCan-ERN

European Reference Network on Rare Hepatological Diseases - RARE-LIVER

Rare Connective Tissue and Musculoskeletal Diseases Network - ReCONNET

Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network - RITA

European Reference Network on Transplantation in Children (incl. HSCT, heart, kidney, liver, intestinal, lung andmultiorgan) - TransplantChild

European Reference Network on Rare Multisystemic Vascular Diseases - VASCERN