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- B06a47d2c9002e2dd279cffaf8558d9dd hasDbXref "Orphanet:1471" @default.
- B06a47d2c9002e2dd279cffaf8558d9dd type Axiom @default.
- B06a47d2c9002e2dd279cffaf8558d9dd annotatedProperty IAO_0000115 @default.
- B06a47d2c9002e2dd279cffaf8558d9dd annotatedSource MONDO_0007353 @default.
- B06a47d2c9002e2dd279cffaf8558d9dd annotatedTarget "Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner." @default.