4602
These data demonstrate that point mutations which result in single amino acid substitutions can produce Kniest dysplasia and further support the hypothesis that alteration of a domain , which includes the region encoded by exon 12 , in the type II collagen protein leads to this disorder . .
 Kniest dysplasia
Please list all entity words in the text that fit the category. Output format is "word1, word2". 
Option: Disease 
Text: {0} 
Answer:
 Kniest dysplasia