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.

 Direct sequencing of amplified C9 cDNA and DNA revealed a nonsense substitution ( CGA - - > TGA ) at codon 95 in exon 4 in the four C9 - deficient individuals .
C9 - deficient

 This indicates that there is a heavy ascertainment bias in the selection of patients for PAX6 mutation analysis and that the missing PAX6 missense mutations frequently may underlie phenotypes distinct from textbook aniridia .
aniridia

 The aim of this study was to assess genotype - phenotype correlations in AAPC families .

AAPC