Term Name: | X-linked hypoparathyroidism |
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Synonyms: | agenesis of parathyroid glands, HYPX |
Definition: | A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. |
Ontology: | Human Disease [DOID:0111388] ( DOID:0111388 ) |