Nomenclature of rare diseases, including all genetic diseases

Comprehensive inventory of 5,000 rare diseases, indexed with ICD10, OMIM, genes (HGNC nomenclature), swissprot, genatlas, class of prevalence, class of age of onset, class of age of death, mode of inheritance, clinical signs, all published classifications, description in 250 words in five languages (English, French, Italian, German, Spanish)rnrnYou also may find the products catalogs of this Institute at :rn

Interest / Relevance: Relevant to be used to code rare/genetic diseases in information systemsrnRelevant for datamining in the field
Scientist's name: Natalia MARTIN
Ana RATH,Ségolène AYME
Detailed technology overview: null

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