| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000495 | Recurrent corneal erosions | "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000559 | Corneal scarring | |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| HP:0001131 | Corneal dystrophy | |
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| HP:0001149 | Lattice corneal dystrophy | "The presence of fine, branching linear opacities in Bowman s layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet s membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [HPO:curators] |
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| HP:0007663 | Decreased central vision | |
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| HP:0007690 | Map-dot-fingerprint corneal dystrophy | |
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| HP:0007755 | Juvenile epithelial corneal dystrophy | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0007802 | Granular corneal dystrophy | "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman s layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material." [HPO:curators] |
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| HP:0007809 | Punctate corneal dystrophy | |
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| HP:0007827 | Nodular corneal dystrophy | |
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| HP:0200020 | Corneal erosions | "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken] |
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