SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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://ctdbase.org/detail.go?type=disease&acc=OMIM:143095
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Genes

1 genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 2.88009