Disease Term Disease ID Gene Symbol Classification References Source
Hypochondroplasia 429 FGFR3 Causal Pathogenic evidence from ClinVar - ClinVar
Hypochondroplasia (disorder) C0410529 FGFR3 Causal Pathogenic evidence from ClinVar 7647778, 7670477, 8841188, 9452043, 10215410, 10777366, 11055896, 12707965, 16912704, 18000976, 23149434, 26380986 ClinVar