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List of rare diseases starting with A

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This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/diseases.asp .

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



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Achondroplasia

... 98% of cases, the mutation is a Gly380Arg substitution, resulting from a G to A point mutation at nucleotide 1138 of the FGFR3 gene [Bellus et al 1995, Shiang et al ...