PedAM
Pediatric Disease Annotations & Medicines
| Disease | skeletal dysplasia |
| Phenotype | C0001080|achondroplasia |
| Sentences | 3 |
| PubMedID- 21460402 | achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. |
| PubMedID- 25456072 | achondroplasia (ach) is one of the most common skeletal dysplasias causing short stature owing to a gain-of-function mutation in the fgfr3 gene, which encodes the fibroblast growth factor receptor 3. |
| PubMedID- 24324705 | achondroplasia (ach) is one of the most common skeletal dysplasias with short stature caused by gain-of-function mutations in fgfr3 encoding the fibroblast growth factor receptor 3. |
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