Eiken skeletal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
EIKEN SKELETAL DYSPLASIA
C1838779MESH:C564010
PTH1R Unknown — CTD Disgenet
EIKEN SYNDROME
60000279106MONDO:0010803
PTH1R Causal
15525660 29987841 31297790
ClinVar GWAS catalog HPO Orphanet