Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aniridia
Always present (100%)HP:0000526
Anterior subcapsular cataract
Always present (100%)HP:0010923
Bilateral ptosis
Always present (100%)HP:0001488
Chorioretinal hypopigmentation
Always present (100%)HP:0040030
Corectopia
Always present (100%)HP:0009918
Corneal erosion
Always present (100%)HP:0200020
Foveal hypoplasia
Always present (100%)HP:0007750
Iris hypoplasia
Always present (100%)HP:0007676
Outward facing eye ball
Always present (100%)HP:0000577
Tortuous retinal vessels
Always present (100%)HP:0012841
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Corneal pannus
Frequent (30-79%)HP:0011496
Eyelid ptosis
Frequent (30-79%)HP:0000508
Glaucoma
Frequent (30-79%)HP:0000501
Squint
Frequent (30-79%)HP:0000486
Abnormality of lens position
Occasional (5-29%)HP:0001083
Cataract
Occasional (5-29%)HP:0000518
Macular agenesis
Occasional (5-29%)HP:0033743
Cloudy cornea
HP:0007759
Glucose intolerance
HP:0001952
Hypoplasia of corpus callosum
HP:0002079
Hypoplastic optic nerves
HP:0000609
Increased proinsulin:insulin ratio
HP:0031883
More grooves in brain
HP:0002126
Related Conditions
Quick Facts
- SNOMED CT
- 253231007
- UMLS CUI
- C0344542
- Fully Specified Name
- Aniridia type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.