Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased visual acuity
Always present (100%)HP:0007663
Abnormal curving of the cornea or lens of the eye
Very frequent (80-99%)HP:0000483
Abnormal pupil morphology
Very frequent (80-99%)HP:0000615
Albinism, Ocular
Very frequent (80-99%)HP:0001107
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Iris hypopigmentation
Very frequent (80-99%)HP:0007730
Photophobia
Very frequent (80-99%)HP:0000613
Abnormality of the macula
Frequent (30-79%)HP:0001103
Foveal hypoplasia
Frequent (30-79%)HP:0007750
Freckling
Frequent (30-79%)HP:0001480
Squint
Frequent (30-79%)HP:0000486
Giant melanosomes in melanocytes
Occasional (5-29%)HP:0005592
Impaired vision
Occasional (5-29%)HP:0000505
Near sighted
Occasional (5-29%)HP:0000545
Skin cancer
Occasional (5-29%)HP:0008069
Hypopigmentation of the fundus
HP:0007894
Nystagmus-induced head nodding
HP:0001361
Related Conditions
Quick Facts
- SNOMED CT
- 78642008
- UMLS CUI
- C0342684
- Fully Specified Name
- Ocular albinism, type I (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.