| HP:0000121 | Nephrocalcinosis | |
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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:0000648 | Optic atrophy | |
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| HP:0000712 | Emotional lability | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000739 | Anxiety | |
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| HP:0000958 | Dry skin | |
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| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0002027 | Abdominal pain | |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002356 | Writer s cramp | |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002615 | Hypotension | |
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| HP:0002793 | Abnormal respiratory patterns | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0002905 | Hyperphosphatemia | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003473 | Mild-moderate fatigable weakness of limb muscles | |
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| HP:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0004372 | Reduced consciousness/confusion | |
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| HP:0007400 | Irregular hyperpigmentation | |
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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:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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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: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:0012608 | Hypermagnesiuria | "An increased concentration of magnesium the `urine` (FMA:12274)." [Eurenomics:fschaefer] |
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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:0040148 | Cortical myoclonus | |
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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:0200026 | ocular pain | |
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