hypoparathyroidism-deafness-renal disease syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gata3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007797 - hypoparathyroidism-deafness-renal disease syndrome

MONDO:0007797 - hypoparathyroidism-deafness-renal disease syndrome

MIM:

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

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

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

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

Parent(s): chromosomal deletion syndrome (is_a)