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.

 PTEN mutations were identified in 30 of 37 ( 81 % ) CD families , including missense and nonsense point mutations , deletions , insertions , a deletion / insertion and splice site mutations .
CD

 We have found an allelic deletion of the haptoglobin ( Hp ) gene from an individual with anhaptoglobinemia .
anhaptoglobinemia

 The two other siblings , apparently healthy at 12 ( 1 / 2 ) and 15 years , respectively , and their father , apparently healthy as well , presented ARSA and GS values within the range of MLD patients .

MLD

