isolated aniridia
MONDO:0007119Mondo
Findings
No curated finding names isolated aniridia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.
Definition from the Mondo Disease Ontology (MONDO:0007119), read 2026-09-29. CC BY 4.0.
Features
27 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.
- AniridiaHPOHP:0000526
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the maculaHPOHP:0008059
- Very frequent (80% to 99% of cases)
- Hypoplasia of the foveaHPOHP:0007750
- Very frequent (80% to 99% of cases)
- Hypoplasia of the irisHPOHP:0007676
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
- Very frequent (80% to 99% of cases)
- Visual lossHPOHP:0000572
- Very frequent (80% to 99% of cases)
- Abnormal foveal pit on macular OCTHPOHP:0030622
- Frequent (30% to 79% of cases)
- Abnormal full-field electroretinogramHPOHP:0030466
- Frequent (30% to 79% of cases)
- Abnormal multifocal electroretinogramHPOHP:0030468
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Corneal neovascularizationHPOHP:0011496
- Frequent (30% to 79% of cases)
Show the remaining 15
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Ectopia lentisHPOHP:0001083
- Frequent (30% to 79% of cases)
- Fundus hypopigmentationHPOHP:0007894
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- Keratoconjunctivitis siccaHPOHP:0001097
- Frequent (30% to 79% of cases)
- Limbal stem cell deficiencyHPOHP:0032107
- Frequent (30% to 79% of cases)
Genes
3 genes
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.
Where it sits
- A kind of
- Narrower terms (3)
Other names
1 name
Resolves to: isolated aniridia
- Also called
- nonsyndromic aniridia