Summary Literature (0)

DOID:0060878 - hypoparathyroidism-deafness-renal disease syndrome

Disease Ontology Definition:A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.

Synonyms: Barakat syndrome, HDR syndrome, hypoparathyroidism, sensorineural deafness, and renal disease,

Echinobase Genes : gata3


OMIM:

MIM:146255 - hypoparathyroidism, sensorineural deafness, and renal disease; hdr

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee