hypoparathyroidism-deafness-renal disease syndrome (DOID:0060878)
Alliance: disease page
Synonyms: Barakat syndrome; HDR syndrome; hypoparathyroidism, sensorineural deafness, and renal disease
Alt IDs: OMIM:146255, MESH:C537907, NCI:C130983, ORDO:2237, UMLS_CUI:C1840333
Definition: 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.