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Bruck syndrome 1

Disease Summary
Associated Targets (2)


Explore Associated Targets
Mondo Description Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.
Uniprot Description A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia.
Mondo Term and Equivalent IDs
MONDO:0009806:  Bruck syndrome 1
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found