ring dermoid of cornea
Findings
No curated finding names ring dermoid of cornea yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition.
Definition from the Mondo Disease Ontology (MONDO:0008387), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal corneal limbus morphologyHPOHP:0025348
- AmblyopiaHPOHP:0000646
- Conjunctival dermolipomaHPOHP:0500070
- Corneal astigmatismHPOHP:0025612
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PITX2HGNC:9005
- Strong · G2P · Autosomal dominant · 2015
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: ring dermoid of cornea
- Also called
- Ring dermoid syndrome