| HP:0000238 | Hydrocephalus | |
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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:0000488 | Retinopathy | |
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| HP:0000505 | Impaired vision | |
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| HP:0000587 | Abnormality of the optic nerve | "Abnormality of the optic nerve (also known as cranial nerve II), which transmits visual information from the retina to the brain." [HPO:curators] |
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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:0000958 | Dry skin | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0001022 | Albinism | |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001480 | Freckling | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001595 | Hair abnormality | |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
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| HP:0002671 | Basal cell carcinoma | |
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| HP:0002859 | Rhabdomyosarcoma | |
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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:0005600 | Giant pigmented hairy nevus, often in lumbosacral distribution | |
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| HP:0006739 | Squamous cell carcinoma of the skin | "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] |
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| HP:0006753 | Increased gastric cancer | |
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| HP:0007730 | Reduced iris pigmentation | |
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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:0100013 | Neoplasia of the breast | |
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| HP:0100763 | Abnormality of the lymphatic system | |
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