pseudoachondroplasia
Information
- Disease name
- pseudoachondroplasia
- Disease ID
- DOID:0080047
- Description
- "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism." [url:http\://en.wikipedia.org/wiki/Pseudoachondroplasia, url:http\://ghr.nlm.nih.gov/condition/pseudoachondroplasia, url:http\://www.healthline.com/galecontent/pseudoachondroplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0, url:http\://www.wheelessonline.com/ortho/pseudoachondroplasia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03866200 | Terminated | Phase 2 | Resveratrol Trial for Relief of Pain in Pseudoachondroplasia | June 29, 2019 | October 28, 2020 |
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:4540
- Cross Reference ID (Disease Ontology)
- MESH:C535819
- Cross Reference ID (Disease Ontology)
- MIM:177170
- Exact Synonym (Disease Ontology)
- pseudoachondroplastic dysplasia
- Exact Synonym (Disease Ontology)
- SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
- OrphaNumber from OrphaNet (Orphanet)
- 750