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Worth syndrome

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate.
Uniprot Description VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels.
Mondo Term and Equivalent IDs
MONDO:0011878:  Worth syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found