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Echinobase
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:
OMIM: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
Parent(s): chromosomal deletion syndrome (is_a)