There are 1583 disorder (inborn errors of metabolism; IEM) entries, 3679 biochemical or clinical phenotype entries, and 9679 disorder-phenotype association entries in the IEMbase.
Easy browsing through IEM categories
Simple search for any IEM or term (clinical, biochemical or genetic)
Mini-expert system to search for a combination of clinical symptoms and biochemical markers and their deviations
Differential diagnosis panel
Biochemical tests panel
Age-related clinical symptoms
Age-related biochemical markers
Disease and gene information
Human phenotype ontology (HPO) mapping
Human metabolome database (HMD) mapping
Links to Genetic Testing Registry, NCBI Gene, Gene Cards, Uniprot, KEGG, OMIM, OrphaCode and Gene reviews
Treatment module (in development)
IEMBase is only a tool to help physicians in the diagnosis of IEMs. Thus, the users should seek a doctor’s advice in addition to using this app and before making any medical decisions.