Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent/small iris
Very frequent (80-99%)HP:0008053
Anterior chamber anomalies
Very frequent (80-99%)HP:0000593
Embryotoxon
Very frequent (80-99%)HP:0000627
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Decreased projection of midface
Frequent (30-79%)HP:0011800
Eclabium of lower lip
Frequent (30-79%)HP:0000232
Glaucoma
Frequent (30-79%)HP:0000501
Hypoacusis
Frequent (30-79%)HP:0000365
Abnormality of the hypothalamus-pituitary axis
Occasional (5-29%)HP:0000864
Concave bridge of nose
Occasional (5-29%)HP:0005280
Hypospadias
Occasional (5-29%)HP:0000047
Hypotrophic maxilla
Occasional (5-29%)HP:0000327
Increased distance between eyes
Occasional (5-29%)HP:0000316
Increased intercanthal distance
Occasional (5-29%)HP:0000506
Increased width of bridge of nose
Occasional (5-29%)HP:0000431
Loose redundant skin
Occasional (5-29%)HP:0001582
Missing between one and six teeth
Occasional (5-29%)HP:0000668
Narrowing of anal opening
Occasional (5-29%)HP:0002025
Protruding forehead
Occasional (5-29%)HP:0011220
Tooth hypotrophy
Occasional (5-29%)HP:0000691
Very poor growth
Occasional (5-29%)HP:0001510
Quick Facts
- SNOMED CT
- 417604002
- UMLS CUI
- C3495488
- Fully Specified Name
- Axenfeld-Rieger syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.