- Tritanomaly (HP:0000552): Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. Evidence: IEA. (OMIM:190900)
- Color vision defect (HP:0000551): An anomaly in the ability to discriminate between or recognize colors. Evidence: PCS. (PMID:1531728)
- Abnormal light-adapted electroretinogram (HP:0008275). Evidence: IEA. (OMIM:190900)
- Dyschromatopsia (HP:0007641): A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. Evidence: PCS. (PMID:1531728)
- Autosomal dominant inheritance (HP:0000006): 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: IEA. (OMIM:190900)
These phenotypes are associated with the disease blue color blindness (OMIM:190900).