| Term Name: | X-linked hypoparathyroidism |
|---|---|
| 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 ) |