Term Name:	hyposulfatemia with skeletal dysplasia
Synonyms:	HSSD
Definition:	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.
Ontology:	Human Disease [DOID:0070795]   ( DOID:0070795 )