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hypoparathyroidism-deafness-renal disease syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.
Uniprot Description A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0007797:  hypoparathyroidism-deafness-renal disease syndrome
GARD:0002911: 
MESH:C537907: 
NCIT:C130983: 
Orphanet:2237: 
SCTID:724282009: 
UMLS:C1840333: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)