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- B919b6b0e091e3413b8fa5d5d161c4874 hasDbXref "Orphanet:98942" @default.
- B919b6b0e091e3413b8fa5d5d161c4874 type Axiom @default.
- B919b6b0e091e3413b8fa5d5d161c4874 annotatedProperty IAO_0000115 @default.
- B919b6b0e091e3413b8fa5d5d161c4874 annotatedSource MONDO_0020354 @default.
- B919b6b0e091e3413b8fa5d5d161c4874 annotatedTarget "Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated." @default.