Term Name: | hypoparathyroidism-deafness-renal disease syndrome |
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Synonyms: | Barakat syndrome, HDR syndrome, hypoparathyroidism, sensorineural deafness, and renal disease |
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. |
Ontology: | Human Disease [DOID:0060878] ( DOID:0060878 ) |