Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries

Table 1 An excerpt of the document used to collect the implementation status of each tool and standard for each ERN

Function	Tool/standard name	ERN registry implementation status
Data model	CDE semantic model	Implemented
Set of data elements	Common data elements JRC	Implemented
Genes Ontology	HGNC	Plans to Implement
Genes Ontology	HUGO	Non-Applicable
Variant Ontology	HGVS	Plans to Implement
Phenotype Ontology	HPO	Needs expert help (see methods)
International Classification of Diseases	ICD-10	Non-Applicable
International Classification of Diseases	ICD-11	Implemented
Minimum Information About Biobank Data Sharing	MIABIS	Implementing assisted by expert

The first column describes functions related to tools and standards which are listed in the second column. The last column tracks the implementation status of each tool or standard (“Implemented”, “Plans to Implement”, “Need Expert Help”, “Implementing Assisted by Expert” or “Non-Applicable”). The references to the tools can be found in the template of the Additional file 1The first column describes functions related to tools and standards which are listed in the second column. The last column tracks the implementation status of each tool or standard (“Implemented”, “Plans to Implement”, “Need Expert Help”, “Implementing Assisted by Expert” or “Non-Applicable”). The references to the tools can be found in the template of the Additional file 1

ISSN: 1750-1172