aniridia 2
MONDO:0014937Mondo
Findings
No curated finding names aniridia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 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.
- Iris colobomaHPOHP:0000612
- 3 of 5 reported patients
- AmblyopiaHPOHP:0000646
- 2 of 5 reported patients
- AniridiaHPOHP:0000526
- 2 of 5 reported patients
- CataractHPOHP:0000518
- 2 of 5 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 5 reported patients
- Lens subluxationHPOHP:0001132
- 1 of 5 reported patients
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.
- ELP4HGNC:1171
- Strong · G2P · Autosomal dominant · 2017
- Limited · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
Other names
2 names
Resolves to: aniridia 2
- Also called
- AN2aniridia type 2