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Stickler syndrome

Disease Summary
Associated Targets (7)
Tbio

6

Tchem

1


GARD Rare
Mondo Description Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).
Mondo Term and Equivalent IDs
MONDO:0019354:  Stickler syndrome
GARD:0010782: 
NCIT:C74984: 
OMIMPS:108300: 
Orphanet:828: 
SCTID:78675000: 
UMLS:C0265253: