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:  Mutation A464V was not found in 18 unrelated MLD patients and 50 controls .

SOLUTION: MLD

PROBLEM:  Mutations of the human PAX6 gene underlie aniridia ( congenital absence of the iris ) , a rare dominant malformation of the eye .

SOLUTION: aniridia

PROBLEM:  Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family .

SOLUTION:
hereditary coproporphyria