|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|PAPSS2||3'-phosphoadenosine 5'-phosphosulfate synthase 2|