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Summary Literature (0)
DOID:0060878 - hypoparathyroidism-deafness-renal disease syndrome


Disease Ontology 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.

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

Xenbase Genes : gata3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007797 - hypoparathyroidism-deafness-renal disease syndrome

OMIM:
OMIM:146255 - HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME; HDRS

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): chromosomal deletion syndrome (is_a)