Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Albinism
Very frequent (80-99%)HP:0001022
Albinism, Ocular
Very frequent (80-99%)HP:0001107
Foveal hypoplasia
Very frequent (80-99%)HP:0007750
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Hypopigmentation of the skin
Very frequent (80-99%)HP:0001010
Iris hypopigmentation
Very frequent (80-99%)HP:0007730
Photophobia
Very frequent (80-99%)HP:0000613
Abnormal visual evoked responses
Frequent (30-79%)HP:0000649
Freckling
Frequent (30-79%)HP:0001480
optic nerve abnormalities
Frequent (30-79%)HP:0000587
Basal cell carcinoma
Occasional (5-29%)HP:0002671
Diffusely thickened skin
Occasional (5-29%)HP:0001072
Epidermal hyperkeratosis
Occasional (5-29%)HP:0000962
Squamous skin carcinoma
Occasional (5-29%)HP:0006739
Abnormal curving of the cornea or lens of the eye
HP:0000483
Abnormality of refraction
HP:0000539
Blue irides
HP:0000635
Decreased visual acuity
HP:0007663
Impaired vision
HP:0000505
Involuntary, rapid, rhythmic eye movements
HP:0000639
Lack of skin coloration
HP:0200098
Near sighted
HP:0000545
Outward facing eye ball
HP:0000577
Squint
HP:0000486
White hair
HP:0011364
Quick Facts
- SNOMED CT
- 6483008
- UMLS CUI
- C4551504
- Fully Specified Name
- Tyrosinase-negative oculocutaneous albinism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.