EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Table 1 EURO-NMD registry hub adopted ontologies

Ontology	Use	Website
Human phenotype ontology	Semiology definitions	https://hpo.jax.org/app/
Human genome variation society	Annotation of modification at chromosomal, gene, variant and protein level	https://www.hgvs.org/
OMIM	Classification of genes and diseases	https://www.omim.org
ORDO (orphanet rare disease ontology)	Classification of rare diseases	https://www.orphadata.com/ordo/

ISSN: 1750-1172