|
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:0007797 - hypoparathyroidism-deafness-renal disease syndrome |
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)