Phenotypes associated with the disease cataract 40 (OMIM:302200, an entry in Online Mendelian Inheritance in Man):
- Nuclear cataract (HP:0100018, a Human Phenotype Ontology term): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: TAS. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (OMIM:302200)
- Severely reduced visual acuity (HP:0001141, a Human Phenotype Ontology term): Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. Evidence: TAS. (OMIM:302200)
- X-linked inheritance (HP:0001417, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:19414485)
- Sutural cataract (HP:0010695, a Human Phenotype Ontology term): A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. Evidence: TAS. (OMIM:302200)