Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (Human Disease Ontology, DOID_0050813)
External Link http://www.omim.org/entry/143095
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Genes

1 genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3