OBO ID: DOID:0111388
Term Name: X-linked hypoparathyroidism Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0111388 )
OTHER X-linked hypoparathyroidism PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None