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.

 While a few cases of isolated ACTH deficiency have been reported ( OMIM 201400 ) , an inherited POMC defect has not been described so far .
ACTH deficiency

 Ataxia - telangiectasia : identification and detection of founder - effect mutations in the ATM gene in ethnic populations .
Ataxia - telangiectasia

 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 .

hyperphenylalaninemia