Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Foveoschisis
Always present (100%)HP:0012152
Impaired vision
Always present (100%)HP:0000505
Macular thickening
Always present (100%)HP:0030498
Night blindness
Always present (100%)HP:0000662
Chorioretinal atrophy
Very frequent (80-99%)HP:0000533
Decreased visual acuity, progressive
Very frequent (80-99%)HP:0000529
Hyperornithinemia
Very frequent (80-99%)HP:0012026
Near sighted
Very frequent (80-99%)HP:0000545
Abnormality of the macula
Frequent (30-79%)HP:0001103
Cataract
Frequent (30-79%)HP:0000518
Chorioretinal hyperpigmentation
Frequent (30-79%)HP:0040031
Constriction of peripheral visual field
Frequent (30-79%)HP:0001133
Increased levels of animo acids in urine
Frequent (30-79%)HP:0003355
Legal blindness
Frequent (30-79%)HP:0000618
Progressive night blindness
Frequent (30-79%)HP:0007675
Subcapsular opacities
Frequent (30-79%)HP:0000523
Abnormal hair morphology
Occasional (5-29%)HP:0001595
Deafness
Occasional (5-29%)HP:0000365
Seizures
Occasional (5-29%)HP:0001250
Abnormal electromyography finding
HP:0003457
Posterior subcapsular cataracts
HP:0007787
Proximal limb muscle weakness
HP:0003701
Quick Facts
- SNOMED CT
- 314467007
- UMLS CUI
- C0018425
- Fully Specified Name
- Gyrate atrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.