Thanatophoric dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
THANATOPHORIC DYSPLASIA
C0039743MESH:D013796MONDO:0017042
FGFR3 Causal
10861287 19752524 19855393 27028100 29458880 7647778 7773297 9069288 9438390
CTD ClinGen Disgenet
THANATOPHORIC DYSPLASIA TYPE 1
1860MONDO:0008546
FGFR3 Causal
19449430 7773297 7647778 8845844 8589699 9215781 9790257 10360402 10910625 11309183 20301540
ClinVar GWAS catalog Orphanet
THANATOPHORIC DYSPLASIA TYPE 2
93274MONDO:0008547
FGFR3 Unknown
20301540 7773297
GWAS catalog Orphanet
THANATOPHORIC DYSPLASIA, TYPE 2
C1300257MESH:C536508
FGFR3 Causal — CTD ClinVar Disgenet
THANATOPHORIC DYSPLASIA, TYPE I
187600C1868678MESH:C566844
FGFR3 Unknown — CTD Disgenet HPO
THANATOPHORIC DYSPLASIA, TYPE II
187601
FGFR3 Unknown — HPO