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.

[EX Q]:  Genotype - phenotype correlations identified significant differences in the nature of certain extracolonic manifestations in FAP patients belonging to three mutation subgroups .
[EX A]: FAP

[EX Q]:  Pendred patients in three non - consanguineous families were shown to be compound heterozygotes for L236P and T416P .
[EX A]: Pendred

[EX Q]:  In two familial cases and one sporadic case , mosaicism for UBE3A mutations was detected in the mother of three AS sons , in the maternal grandfather of two AS first cousins , and in the mother of an AS daughter .
[EX A]:
AS

