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Disease Ontology Browser
hypoparathyroidism-deafness-renal disease syndrome (DOID:0060878)
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory