Overview
Yellow mutant oculocutaneous albinism 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
Achromasia
Very frequent (80-99%)HP:0001022
Freckling
Very frequent (80-99%)HP:0001480
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
Squint
Very frequent (80-99%)HP:0000486
Foveal hypoplasia
Frequent (30-79%)HP:0007750
Impaired vision
Frequent (30-79%)HP:0000505
Noncancerous mole
Frequent (30-79%)HP:0000995
optic nerve abnormalities
Frequent (30-79%)HP:0000587
Photophobia
Frequent (30-79%)HP:0000613
Basal cell nevus
Occasional (5-29%)HP:0002671
Diffusely thickened skin
Occasional (5-29%)HP:0001072
Skin cancer (melanoma)
Occasional (5-29%)HP:0002861
Squamous skin carcinoma
Occasional (5-29%)HP:0006739
Hypopigmentation of the fundus
HP:0007894
Involuntary, rapid, rhythmic eye movements
HP:0000639
Related Conditions
Quick Facts
- SNOMED CT
- 82342003
- UMLS CUI
- C1847024
- Fully Specified Name
- Yellow mutant oculocutaneous albinism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.