Thanatophoric dysplasia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
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
8078586
HPO, ClinGen
All1 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Thanatophoric dysplasia.
5 View disease cluster →
Achondroplasia 1 shared geneFGFR3 Related via 1 shared gene including FGFR3. Camptodactyly, tall stature, and hearing loss syndrome 1 shared geneFGFR3 Related via 1 shared gene including FGFR3. Catshl syndrome 1 shared geneFGFR3 Related via 1 shared gene including FGFR3. Crouzon syndrome with acanthosis nigricans 1 shared geneFGFR3 Related via 1 shared gene including FGFR3. Muenke syndrome 1 shared geneFGFR3 Related via 1 shared gene including FGFR3.