Overview
Aniridia and absent patella syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aniridia
Very frequent (80-99%)HP:0000526
Small to absent patellae
Very frequent (80-99%)HP:0006498
Cryptorchidism
Frequent (30-79%)HP:0000028
Eyelid ptosis
Frequent (30-79%)HP:0000508
Glaucoma
Frequent (30-79%)HP:0000501
Inguinal hernia
Frequent (30-79%)HP:0000023
Lens opacities
Frequent (30-79%)HP:0000518
Muscular hypotonia
Frequent (30-79%)HP:0001252
Related Conditions
Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Aniridia(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the visual system(parent)
Developmental hereditary disorder(parent)
Congenital anomaly of patella(parent)
Quick Facts
- SNOMED CT
- 720467005
- UMLS CUI
- C1862868
- Fully Specified Name
- Aniridia and absent patella syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 8
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.