| Metadata | |
|---|---|
| ID | DOID:0060340 |
| Name | ciliopathy |
| Definition | A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. http://en.wikipedia.org/wiki/Ciliopathy, https://www.ncbi.nlm.nih.gov/pubmed/18178628, https://www.ncbi.nlm.nih.gov/pubmed/21210154 |
| Parent Relationships |
is_a syndrome is_a monogenic disease |