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nephrosis-deafness-urinary tract-digital malformations syndrome

Disease Summary
Associated Targets ()

Mondo Description Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.
Mondo Term and Equivalent IDs
MONDO:0009731:  nephrosis-deafness-urinary tract-digital malformations syndrome
GARD:0003943: 
MESH:C536402: 
Orphanet:2669: 
UMLS:C1850552: