Overview
Oculocutaneous albinism type 4 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.
Abnormality of RPE
Very frequent (80-99%)HP:0007703
Decreased visual acuity
Very frequent (80-99%)HP:0007663
Foveal hypoplasia
Very frequent (80-99%)HP:0007750
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Albinism
Frequent (30-79%)HP:0001022
Albinism, Ocular
Frequent (30-79%)HP:0001107
Diffusely thickened skin
Frequent (30-79%)HP:0001072
Hypopigmentation of hair
Frequent (30-79%)HP:0005599
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Iris hypopigmentation
Frequent (30-79%)HP:0007730
Optic nerve misrouting
Frequent (30-79%)HP:0025551
Photophobia
Frequent (30-79%)HP:0000613
White hair
Frequent (30-79%)HP:0011364
Naevus
Very rare (1-4%)HP:0003764
Skin cancer (non-melanoma)
Very rare (1-4%)HP:0008069
Blue irides
HP:0000635
Hypopigmentation of the fundus
HP:0007894
Macular hypoplasia
HP:0001104
Poor vision
HP:0000505
Related Conditions
Quick Facts
- SNOMED CT
- 715632003
- UMLS CUI
- C1847836
- Fully Specified Name
- Oculocutaneous albinism type 4 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.