| 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:0000488 | Retinopathy | |
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| HP:0000539 | Abnormality of refraction | |
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| HP:0000541 | Detached retina | |
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| HP:0000572 | Visual loss | |
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| HP:0000958 | Dry skin | |
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| HP:0001480 | Freckling | |
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| HP:0001595 | Hair abnormality | |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002858 | Meningioma | |
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| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0003764 | Abnormal or excess nevi | |
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| HP:0006753 | Increased gastric cancer | |
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| HP:0007716 | Malignant intraocular melanoma | "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [HPO:curators] |
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| HP:0007902 | Vitreous hemorrhage | |
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| HP:0007906 | Increased intraocular pressure | |
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| HP:0008494 | Inferior lens subluxation | |
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| HP:0010920 | Zonular cataract | "Zonular cataracts are defined to be cataracts that affect specific regions of the lens." [HPO:probinson, HPO:vkumar, pmid:18035564] |
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| HP:0011499 | Mydriasis | "Abnormal dilatation of the iris." [DDD:ncarter] |
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| HP:0011524 | Iris melanoma | "Malignant tumor of melanocytes affecting the iris." [DDD:ncarter] |
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| HP:0012054 | Choroidal melanoma | "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [HPO:probinson, pmid:22557869] |
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| HP:0012055 | Ciliary body melanoma | "Malignant tumor of melanocytes of the ciliary body." [HPO:probinson] |
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| HP:0012056 | Cutaneous melanoma | "The presence of a `melanoma` (MPATH:359) of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0012508 | Metamorphopsia | "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [HPO:probinson] |
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| HP:0030078 | Lung adenocarcinoma | |
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| HP:0030786 | Photopsia | "Perceived flashes of light." [HPO:probinson, PMID:10506812] |
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| HP:0030800 | Abnormal visual accommodation | "An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power." [HPO:probinson] |
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| HP:0100013 | Neoplasia of the breast | |
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| HP:0100533 | Inflammatory abnormality of the eye | "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] |
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| HP:0100763 | Abnormality of the lymphatic system | |
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| HP:0200026 | ocular pain | |
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