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Joubert syndrome with ocular defect

Disease Summary
Associated Targets (7)
Tbio

7


Explore Associated Targets
Mondo Description Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.
Mondo Term and Equivalent IDs
MONDO:0016364:  Joubert syndrome with ocular defect
GARD:0010168: 
Orphanet:220493: 
SCTID:716998009: 
UMLS:C4274118: 
UMLS:CN201217: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found