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International Classification of Inherited Metabolic Disorders (ICIMD)

ICIMD is a hierarchical, group-based collation of all currently known inherited metabolic disorders.
ICIMD includes any primary genetic condition in which alteration of a biochemical pathway is intrinsic to specific biochemical, clinical and/or pathophysiological features.
ICIMD aims to facilitate an improved understanding of the interconnections between conditions that share functional, clinical and diagnostic features.

Detailed information on ICIMD can be found here

The ICIMD has been collated by Carlos R. Ferreira (Bethesda, USA), Shamima Rahman (London, UK), and Johannes Zschocke (Innsbruck, Austria), together with the ICIMD Advisory Group listed here.

ICIMD Publication

The sunburst plot below visualizes ICIMD groups and subgroups; clicking on them opens the respective disease table with additional information:

Disease name → Orphanet database
Gene name → HUGO Gene Nomenclature Committee (HGNC) database
OMIM Number → Online Mendelian Inheritance in Man database
IEMbase → Inborn Errors of Metabolism Knowledgebase

Sunburst Plot

The sunburst plot and this website have been programmed by Dr. Markus Keller (Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria), and Benedikt Fuisz (Ampass, Austria).
This website has been made possible with the financial support of the Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.