Table 2 codebook specifying summary table column headings (variable names)

Phenotype of a group of rare diseases

gener_pheno

Rare diseases phenotypical grouping, e.g. Congenital Myasthenic Syndromes CMS

Specific phenotype under the generic phenotype

spec_pheno

Rare diseases subtype under a generic phenotype, e.g. DOK7 under CMS

Gene

gene

First-line treatment recommendation

first_line

Alternative treatment 1

alt_treat_1

Alternative treatment 2

alt_treat_2

Likely innefective

innefective

List of medications tried without success

Harmful

harmful

List of medications that can harm these patients

Expert Summary of Evidence

expert_sum

number of publications

num_pub

Integer that corresponds to the total of publications reviewed for this database entry

Key reference

key_ref

Main literature reference for the database entry

PMIDs

pmids

List the PMIDs of papers referenced for this database entry

DOIs

dois

List of DOIs of papers referenced for this database entry

OCEBM

ocebm

OCEBM classification of evidence

GRADE

grade

GRADE classification of evidence