Phenotypes associated with the disease Uveal melanoma (ORPHA:39044, an Orphanet rare-disease identifier):
- Visual loss (HP:0000572, a Human Phenotype Ontology term): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:39044)
- Abnormal fundus morphology (HP:0001098, a Human Phenotype Ontology term): Any structural abnormality of the fundus of the eye. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:39044)
- Choroidal melanoma (HP:0012054, a Human Phenotype Ontology term): 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). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:39044)
- Retinal detachment (HP:0000541, a Human Phenotype Ontology term): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:39044)
- Iris melanoma (HP:0011524, a Human Phenotype Ontology term): Malignant tumor of melanocytes affecting the iris. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:39044)
- Ciliary body melanoma (HP:0012055, a Human Phenotype Ontology term): Malignant tumor of melanocytes of the ciliary body. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:39044)
- Abnormality of refraction (HP:0000539, a Human Phenotype Ontology term): An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Vitreous hemorrhage (HP:0007902, a Human Phenotype Ontology term): Bleeding within the vitreous compartment of the eye. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Ocular hypertension (HP:0007906, a Human Phenotype Ontology term): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Inferior lens subluxation (HP:0008494, a Human Phenotype Ontology term): Partial displacement of the lens in the inferior direction. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Zonular cataract (HP:0010920, a Human Phenotype Ontology term): Zonular cataracts are defined to be cataracts that affect specific regions of the lens. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Mydriasis (HP:0011499, a Human Phenotype Ontology term): Abnormal dilatation of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Metamorphopsia (HP:0012508, a Human Phenotype Ontology term): A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Photopsia (HP:0030786, a Human Phenotype Ontology term): Perceived flashes of light. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Abnormal visual accommodation (HP:0030800, a Human Phenotype Ontology term): 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. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:39044)
- Inflammatory abnormality of the eye (HP:0100533, a Human Phenotype Ontology term): Inflammation of the eye, parts of the eye or the periorbital region. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:39044)
- Ocular pain (HP:0200026, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:39044)