Human genes for X-linked hypoparathyroidism
X-linked hypoparathyroidism [DOID:0111388]
A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.
Synonyms: X-linked hypoparathyroidism, DOID:0111388, Xlinked hypoparathyroidism, X-linked hypoparathyroidisms, agenesis of parathyroid glands ...