Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aniridia
Very frequent (80-99%)HP:0000526
Aplasia/Hypoplasia of the macula
Very frequent (80-99%)HP:0008059
Decreased visual acuity
Very frequent (80-99%)HP:0007663
Foveal hypoplasia
Very frequent (80-99%)HP:0007750
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Iris hypoplasia
Very frequent (80-99%)HP:0007676
Visual loss
Very frequent (80-99%)HP:0000572
Abnormal foveal pit on macular OCT
Frequent (30-79%)HP:0030622
Abnormal full-field electroretinogram
Frequent (30-79%)HP:0030466
Abnormal multifocal electroretinogram
Frequent (30-79%)HP:0030468
Abnormality of lens position
Frequent (30-79%)HP:0001083
Corneal pannus
Frequent (30-79%)HP:0011496
Glaucoma
Frequent (30-79%)HP:0000501
Hypopigmentation of the fundus
Frequent (30-79%)HP:0007894
Keratitis sicca
Frequent (30-79%)HP:0001097
Lens opacities
Frequent (30-79%)HP:0000518
Limbal stem cell deficiency
Frequent (30-79%)HP:0032107
Peters anomaly
Frequent (30-79%)HP:0000659
Red/green colour vision defect
Frequent (30-79%)HP:0000642
Scarring or clouding of the cornea of the eye
Frequent (30-79%)HP:0007957
Squint
Frequent (30-79%)HP:0000486
Double ring sign
Occasional (5-29%)HP:0000609
Eyelid ptosis
Occasional (5-29%)HP:0000508
Nanophthalmos
Occasional (5-29%)HP:0000568
Photophobia
Occasional (5-29%)HP:0000613
Lens coloboma
Very rare (1-4%)HP:0100719
Microspherophakia
Very rare (1-4%)HP:0030961
Related Conditions
Aniridia type 1(child)
AN2(child)
Aniridia and absent patella syndrome(child)
Aniridia and intellectual disability syndrome(child)
Aniridia, ptosis, intellectual disability, familial obesity syndrome(child)
Aniridia, renal agenesis, psychomotor retardation syndrome(child)
Gillespie syndrome(child)
Congenital aniridia of right eye(child)
Congenital aniridia of left eye(child)
Congenital anomaly of iris(parent)
Quick Facts
- SNOMED CT
- 69278003
- UMLS CUI
- C0003076
- Fully Specified Name
- Congenital aniridia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.