PedAM
Pediatric Disease Annotations & Medicines
| Disease | dwarfism |
| Phenotype | C0039743|thanatophoric dysplasia |
| Sentences | 1 |
| PubMedID- 25387261 | Achondroplasia, hypochondroplasia, and thanatophoric dysplasia are syndromes of short-limbed dwarfism caused by activating mutations of fibroblast growth factor receptor-3, which result in overactivation of the mek/erk mapk pathway. |
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