Phenotypes associated with the disease keratoconus 1 (OMIM:148300, an entry in Online Mendelian Inheritance in Man):
- Astigmatism (HP:0000483, a Human Phenotype Ontology term): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: IEA. (OMIM:148300)
- Keratoconus (HP:0000563, a Human Phenotype Ontology term): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: PCS. (PMID:11978762)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: TAS. (OMIM:148300)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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. Evidence: PCS. (PMID:11978762)