Search Ontology:
Human Disease

hyposulfatemia with skeletal dysplasia

Term ID
DOID:0070795
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. (2)
References
Ontology
Human Disease   ( DOID:0070795 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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