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Disease Ontology Browser
hyposulfatemia with skeletal dysplasia (DOID:0070795)
Alliance: disease page
Synonyms: HSSD
Alt IDs: OMIM:621654
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
07/14/2026
MGI 6.24 		The Jackson Laboratory