| 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:0000238 | Hydrocephalus | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000356 | Abnormality of the outer ear | "An abnormality of the outer ear, which is also known as `pinna` (FMA:56580 ) or auricle." [HPO:probinson] |
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| HP:0000483 | Astigmatism | |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] |
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| HP:0000563 | Keratoconus | "A cone-shaped deformity of the cornea." [HPO:curators] |
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| HP:0000585 | Band keratopathy | "An `abnormality of the cornea` (HP:0000481) characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [HPO:probinson] |
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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:0001089 | Iris atrophy | |
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| HP:0001425 | Heterogeneous | |
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| HP:0007035 | Anterior encephalocele | |
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| HP:0007291 | Posterior fossa cysts | |
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| HP:0007700 | Anterior chamber cleavage disorder | |
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| HP:0007915 | Polymorphous posterior corneal dystrophy | "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma." [HPO:curators] |
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| HP:0009918 | Ectopia pupillae | "A malposition of the pupil." [HPO:curators] |
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| HP:0009926 | Increased tear production | "Abnormally in creased lacrimation." [HPO:curators] |
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| HP:0011462 | Young adult onset | "Onset of disease at the age of between 15 and 40 years." [DDD:hfirth] |
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| HP:0011483 | Anterior synechiae of the anterior chamber | "Adhesions between the iris and the cornea." [DDD:ncarter] |
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| HP:0011488 | Abnormality of corneal endothelium | "Abnormality of the `corneal endothelium` (FMA:63882), that is, the single layer of cells on the inner surface of the cornea." [DDD:gblack] |
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| HP:0025358 | Uveal ectropion | "Presence of iris pigment epithelium on the anterior surface of the iris." [] |
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| HP:0031159 | Thinning of Descemet membrane | "A reduction in the thickness of Descemet s membrane." [] |
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