Phenotypes associated with the disease ring dermoid of cornea (OMIM:180550):
- Conjunctival dermolipoma (HP:0500070): A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. Evidence: PCS. (PMID:7387508)
- Abnormal cornea morphology (HP:0000481): Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. Evidence: TAS. (OMIM:180550)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. (PMID:7387508)
- Abnormal conjunctiva morphology (HP:0000502): An abnormality of the conjunctiva. Evidence: TAS. (OMIM:180550)
- Abnormal corneal limbus morphology (HP:0025348): An anomaly of the margin of the cornea overlapped by the sclera. Evidence: PCS. (PMID:7387508)
- Corneal astigmatism (HP:0025612): A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. Evidence: PCS. (PMID:7387508)
- 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: TAS. (OMIM:180550)