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Table 1 Codebook specifying data capture form spreadsheet headings

From: A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Item Variable name Value label
Identification of publication pmid PubMed Identifier is a unique integer value assigned to each PubMed abstract record (to be distinguished from PMCID that corresponds to full-text records in PMC)
Identification of publication doi The Digital Object Identifier from the International DOI Foundation is a generic framework for managing identification of content over digital networks.
Identification of publication harvard Use a full reference in Harvard style as described in Include a full url to the journal homepage each time a DOI and PMID do not exist by searching the url on the NLM catalog online (
Year of publication year  
Authors authors  
Title of Publication title  
Journal of publication journal  
Full abstract abstract  
Phenotype of a group of rare diseases gener_pheno Rare diseases phenotypical grouping, e.g. Congenital Myasthenic Syndromes CMS
Specific phenotype unde the generic phenotype specific_phenotype e.g. DOK7-related CMS form under CMS
Type of study study_type case, series, cohort, non-controlled trial, randomised controlled trial, double blind randomised controlled trial, other
Number of patients patients_num  
Gene gene  
Subtype descriptive name subtype_name  
Subtype OMIM code subtype_OMIM  
Variants variants  
Inheritance and zygoty inher_zigoty  
Drug drug1  
Effect effect1  
Drug drug2  
Effect effect2  
Drug drug3  
Effect effect3  
Contraindications contraind