Spondyloepimetaphyseal dysplasia, pakistani type Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (Human Disease Ontology, DOID_0050812)
External Link http://www.omim.org/entry/612847
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Genes

1 genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2