Achondroplasia

Disease Term Disease ID Gene Symbol Classification References Source
Achondroplasia 15, C0001080 FGFR3 Causal Pathogenic evidence from ClinVar 7647778, 7758520, 7847369, 7913883, 8078586, 8599935, 9811582, 10200283, 10611230, 12297284, 14699054, 16501574, 16912704, 23149434 ClinVar