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Oculocutaneous albinism type 6

disorder
SNOMED 722058005CUI C3805375

Overview

Oculocutaneous albinism type 6 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.

Fair skin
Always present (100%)HP:0007513
Foveal hypoplasia
Always present (100%)HP:0007750
Poor vision
Always present (100%)HP:0000505
Towhead (hair color)
Always present (100%)HP:0002286
Abnormal foveal morphology on macular OCT
Very frequent (80-99%)HP:0030613
Abnormal fundus morphology
Very frequent (80-99%)HP:0001098
Abnormal iris pigmentation
Very frequent (80-99%)HP:0008034
Aplasia/Hypoplasia of the macula
Very frequent (80-99%)HP:0008059
Decreased visual acuity
Very frequent (80-99%)HP:0007663
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Photophobia
Very frequent (80-99%)HP:0000613

Quick Facts

SNOMED CT
722058005
UMLS CUI
C3805375
Fully Specified Name
Oculocutaneous albinism type 6 (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
11
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.