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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, ICD10CM:Q87.8, ORDO:2237, UMLS_CUI:C1840333
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.

Disease References using Mouse Models (2)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory