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nephropathy - deafness - hyperparathyroidism syndrome

Disease Summary
Associated Targets ()

Mondo Description Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009729:  nephropathy - deafness - hyperparathyroidism syndrome
GARD:0003940: 
MESH:C536401: 
Orphanet:2668: 
SCTID:724093004: 
UMLS:C1850553: