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hypoparathyroidism-deafness-renal disease syndrome (DOID:0060878)
Alliance: disease page
Synonyms: Barakat syndrome; HDR syndrome; hypoparathyroidism, sensorineural deafness, and renal disease
Alt IDs: OMIM:146255, MESH:C537907, NCI:C130983, ORDO:2237, UMLS_CUI:C1840333
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory