TASK DEFINITION: In this task, you will be given a sentence. You need to reconize the name of the disorder or disease. Disease is a disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury. Although there might be several correct answers, you need to write one of them.
PROBLEM:  A hot spot for PTEN mutation in CD was identified in exon 5 that contains the PTPase core motif , with 13 of 30 ( 43 % ) CD mutations identified in this exon .

SOLUTION: CD

PROBLEM:  In the present study , the classification of 105 PAH mutations may allow the prediction of the biochemical phenotype in > 10 , 000 genotypes , which may be useful for the management of hyperphenylalaninemia in newborns .

SOLUTION: hyperphenylalaninemia

PROBLEM:  Comparisons with allele frequencies based on prevalence estimates of HH showed some disagreements with the RFLP data , particularly in Finns .

SOLUTION:
HH