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Joubert syndrome with oculorenal defect

Disease Summary
Associated Targets (7)
Tbio

6

Tdark

1


GARD Rare
Mondo Description Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
Mondo Term and Equivalent IDs
MONDO:0009480:  Joubert syndrome with oculorenal defect
GARD:0009455: 
MESH:C537430: 
Orphanet:2318: 
SCTID:721862000: 
UMLS:C1855675: