Human genes for hypoparathyroidism-deafness-renal disease syndrome
Hypoparathyroidism-deafness-renal disease syndrome [DOID:0060878]
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: hypoparathyroidism-deafness-renal disease syndrome, DOID:0060878, hypoparathyroidismdeafnessrenal disease syndrome, hypoparathyroidism-deafness-renal disease disease, hypoparathyroidism-deafness-renal disease disorder ...