| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An exostosis that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. (Human Disease Ontology, DOID_4998) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:D015826 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Langer-Giedion Syndrome from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| TRPS1 | trichorhinophalangeal syndrome I | 2.88009 |
