Phenotypes associated with the disease Autosomal dominant keratitis (ORPHA:2334):
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:2334)
- Abnormality of refraction (HP:0000539): 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: Frequent (HP:0040282). (ORPHA:2334)
- Macular hypoplasia (HP:0001104): Underdevelopment of the macula lutea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2334)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2334)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2334)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2334)
- Hypoplastic iris stroma (HP:0007990): Underdevelopment of the stroma of iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2334)
- Corneal neovascularization (HP:0011496): Ingrowth of new blood vessels into the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2334)
- Abnormal corneal limbus morphology (HP:0025348): An anomaly of the margin of the cornea overlapped by the sclera. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2334)
- Limbal stem cell deficiency (HP:0032107): A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2334)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2334)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2334)
- Aniridia (HP:0000526): Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2334)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2334)
- Congenital nystagmus (HP:0006934): Nystagmus dating from or present at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2334)
- Bilateral microphthalmos (HP:0007633): A developmental anomaly characterized by abnormal smallness of both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2334)