Overview
Griscelli syndrome type 3 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.
Blonde eyelashes
Always present (100%)HP:0002227
Large clumps of pigment irregularly distributed along hair shaft
Always present (100%)HP:0004527
Silver-gray hair
Always present (100%)HP:0002218
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Iris hypopigmentation
Occasional (5-29%)HP:0007730
Partial absent skin pigmentation
Occasional (5-29%)HP:0007443
Abnormality of the nervous system
Excluded (<1%)HP:0000707
Immune deficiency
Excluded (<1%)HP:0002721
Related Conditions
Quick Facts
- SNOMED CT
- 1254947002
- UMLS CUI
- C1836573
- Fully Specified Name
- Hypopigmentation-immunodeficiency disease type 3 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 8
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.