Dutch Diagnosis Registration Metabolic Diseases

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Several files based on our data are available for download under the following conditions:


Users are allowed to use data for their research, under the condition that the correct name and owners of the site are mentioned in all their publications properly.

The content of this site is for general information and research purposes only, and does not constitute advice. DDRMD.NL accepts no responsibility for, and excludes all liability in connection with, browsing this site, use of information or downloading any materials from it, including, but not limited to, any liability for errors, inaccuracies or ommissions.

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List of all metabolic diseases that are in our database, in alphabetical order. For each disease the list mentions its name, different synonyms, genes, orphanumber, OMIM and ICD10 codes. Available in pdf and in xml format.
List of metabolic diseases with at least one registered patient. The list shows the number of registered patients per disease, ordered by the number of patients (in decreasing order).
List of metabolic diseases with at least 10 registered patients. In alphabetical order, this list shows the incidence for each disease, calculated from the number of registered patients per disease and the number of newborns. The actual incidence may be higher.