| 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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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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:0000540 | Hypermetropia | |
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| HP:0000548 | Cone-rod dystrophy | |
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| HP:0000577 | Exotropia | |
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| HP:0000603 | Central scotoma | |
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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:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000662 | Night blindness | |
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| HP:0007641 | Secondary dyschromatopsia | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007722 | Loss of retinal pigment epithelium | |
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| HP:0007750 | Foveal hypoplasia | |
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| HP:0007793 | Bilateral macular retinal pigment epithelial mottling | |
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| HP:0007843 | Attenuation of retinal blood vessels | |
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| HP:0007939 | Almost complete colorblindness except ability to see blue | |
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| HP:0008020 | Progressive cone degeneration | |
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| HP:0012043 | Pendular nystagmus | "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson] |
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