ciliopathy
Information
- Disease name
- ciliopathy
- Disease ID
- DOID:0060340
- Description
- "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia." [url:http\://en.wikipedia.org/wiki/Ciliopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/18178628, url:https\://www.ncbi.nlm.nih.gov/pubmed/21210154]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00068224 | Completed | Clinical and Molecular Investigations Into Ciliopathies | March 16, 2003 | February 18, 2021 |
- Disase is a (Disease Ontology)
- DOID:225