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- B080623c12fcc58c5c5a9592bb62e3295 hasDbXref "Orphanet:195" @default.
- B080623c12fcc58c5c5a9592bb62e3295 type Axiom @default.
- B080623c12fcc58c5c5a9592bb62e3295 annotatedProperty IAO_0000115 @default.
- B080623c12fcc58c5c5a9592bb62e3295 annotatedSource MONDO_0007276 @default.
- B080623c12fcc58c5c5a9592bb62e3295 annotatedTarget "Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal." @default.