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DO Term : hypoparathyroidism-deafness-renal disease syndrome [DOID:0060878] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.
  • synonyms:
  • OMIM:146255,
  • MESH:C537907,
  • hypoparathyroidism, sensorineural deafness, and renal disease,
  • UMLS_CUI:C1840333,
  • NCI:C130983,
  • Barakat syndrome,
  • HDR syndrome,
  • 146255,
  • ORDO:2237,
  • SNOMEDCT_US_2023_03_01:724282009
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