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- B4b4f7e39542b93a0791e700e37d0b63d hasDbXref "Orphanet:828" @default.
- B4b4f7e39542b93a0791e700e37d0b63d type Axiom @default.
- B4b4f7e39542b93a0791e700e37d0b63d annotatedProperty IAO_0000115 @default.
- B4b4f7e39542b93a0791e700e37d0b63d annotatedSource MONDO_0011493 @default.
- B4b4f7e39542b93a0791e700e37d0b63d annotatedTarget "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). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)." @default.