Kniest dysplasia
Information
- Disease name
- Kniest dysplasia
- Disease ID
- DOID:0080045
- Description
- "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face." [url:http\://ghr.nlm.nih.gov/condition/kniest-dysplasia, url:http\://www.ksginfo.org/kniest.html]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05408715 | Recruiting | A Natural History Study in Children With a Type II Collagen Disorder With Short Stature | June 29, 2022 | December 31, 2026 |
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:6841
- Cross Reference ID (Disease Ontology)
- MESH:C537207
- Cross Reference ID (Disease Ontology)
- MIM:156550
- OrphaNumber from OrphaNet (Orphanet)
- 485