Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of refraction
Frequent (30-79%)HP:0000539
Blue irides
Frequent (30-79%)HP:0000635
Foveal hypoplasia
Frequent (30-79%)HP:0007750
Freckling
Frequent (30-79%)HP:0001480
Heterochromia iridis
Frequent (30-79%)HP:0001100
Hypopigmentation of hair
Frequent (30-79%)HP:0005599
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Iris hypopigmentation
Frequent (30-79%)HP:0007730
Iris transillumination defect
Frequent (30-79%)HP:0012805
Macular hypopigmentation
Frequent (30-79%)HP:0007988
Optic nerve misrouting
Frequent (30-79%)HP:0025551
Photophobia
Frequent (30-79%)HP:0000613
Retinal pigmentary anomaly
Frequent (30-79%)HP:0007703
White eyebrow
Frequent (30-79%)HP:0002226
White hair
Frequent (30-79%)HP:0011364
Basal cell carcinoma
Occasional (5-29%)HP:0002671
Cutaneous melanoma
Occasional (5-29%)HP:0012056
Grey eyelashes
Occasional (5-29%)HP:0002227
Lack of skin coloration
Occasional (5-29%)HP:0200098
Posterior staphyloma
Occasional (5-29%)HP:0030856
Squamous skin carcinoma
Occasional (5-29%)HP:0006739
Hyperpigmented nevi
Very rare (1-4%)HP:0007481
Albinism
HP:0001022
Decreased visual acuity
HP:0007663
Freckles in sun-exposed areas
HP:0007603
Ginger hair colour
HP:0002297
Hypopigmentation of the fundus
HP:0007894
Impaired vision
HP:0000505
Involuntary, rapid, rhythmic eye movements
HP:0000639
Near sighted
HP:0000545
Quick Facts
- SNOMED CT
- 26336006
- UMLS CUI
- C0268495
- Fully Specified Name
- Tyrosinase-positive oculocutaneous albinism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.