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Table 1 Major concepts and elements in IDR-fact files

From: IDR knowledge base for primary immunodeficiencies

Major concepts

Elements

Description

General Information

DiseaseName

Disease name

 

Abbreviation

Abbreviation for disease name

 

AlternativeNames

Alternatively used disease names

 

Description

General description of disease

 

Classification

Classifies disease in the fact files' hierarchy

 

Omim

Link to the OMIM knowledge base

 

ICD-10

WHO classification of diseases

 

CrossReferences

References to the related fact files

 

Incidence

Number of cases in population

Clinical Information

Clinical Description

Characteristic clinical features

 

Diagnosis

Diagnostic guidelines, protocols and laboratories

 

TherapeuticOptions

Treatment of disease

 

ResearchPrograms

Clinical trials or research projects on-going

Molecular Biology

GeneInformation

Gene name, aliases, reference sequences, chromosomal location, maps, markers, variations and other gene related resources

 

AnimalModels

Related transgenic animal data

 

ProteinInformation

Protein features, structures, domains, motifs and other protein resources

 

ExpressionPattern

Gene expression levels in a variety of cells and tissues

Other Resources

Publications

Related publications in PubMed

 

Societies

General and disease specific societies

 

OtherSites

Other related websites