Overview
Ornithine aminotransferase deficiency 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.
Chorioretinal atrophy
Always present (100%)HP:0000533
Difficulties with night vision
Always present (100%)HP:0000662
Foveoschisis
Always present (100%)HP:0012152
Hyperornithinemia
Always present (100%)HP:0012026
Macular thickening
Always present (100%)HP:0030498
Poor vision
Always present (100%)HP:0000505
Abnormal electromyography finding
HP:0003457
Blindness
HP:0000618
Near sighted
HP:0000545
Posterior subcapsular cataracts
HP:0007787
Proximal limb muscle weakness
HP:0003701
Quick Facts
- SNOMED CT
- 276426004
- UMLS CUI
- C0599035
- Fully Specified Name
- Ornithine oxo-acid aminotransferase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 11
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.