FB2026_03 , released September 17, 2026
CV Term Report
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Term X-linked hypoparathyroidism ID (Ontology) DOID:0111388 (Human Disease)
Definition A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3.
Also Known As"agenesis of parathyroid glands" ; "HYPX"
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monogenic disease
 |__X-linked monogenic disease__
parathyroid gland disease       |
 |__hypoparathyroidism__________|
                                X-linked hypoparathyroidism
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Is a X-linked monogenic disease
hypoparathyroidism
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Synonyms
  • "agenesis of parathyroid glands" EXACT
    "HYPX" EXACT OMO:0003012
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MIM:307700