DO_rare_slim has material basis in autosomal recessive disease hyposulfatemia with skeletal dysplasia HSSD disease_ontology MIM:621654 DOID:0070795 An inherited metabolic disorder characterized by reduced plasma sulfate levels, increased urinary sulfate excretion, and skeletal dysplasia, including proportionate short stature, epiphyseal abnormalities and metaphyseal flaring, and vertebral irregularities with kyphosis, lordosis, or scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A gene on chromosome 7q31. MIM:621654 spondyloepimetaphyseal dysplasia inherited metabolic disorder autosomal recessive inheritance