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thanatophoric dysplasia type 2

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
Uniprot Description A neonatal lethal skeletal dysplasia causing severe shortening of the limbs, narrow thorax and short ribs. Patients with thanatophoric dysplasia type 2 have straight femurs and cloverleaf skull.
Mondo Term and Equivalent IDs
MONDO:0008547:  thanatophoric dysplasia type 2
GARD:0001402: 
MESH:C536508: 
NCIT:C98584: 
Orphanet:93274: 
SCTID:389158007: 
UMLS:C1300257: 
UMLS:CN206542: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found