Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Poliosis of anterior hair
Very frequent (80-99%)HP:0002211
Blonde eyebrow
Frequent (30-79%)HP:0002226
Blonde eyelashes
Frequent (30-79%)HP:0002227
Flat, discolored area of skin
Frequent (30-79%)HP:0012733
Hypopigmented skin patches
Frequent (30-79%)HP:0001053
Abnormality of cranium
Occasional (5-29%)HP:0002683
Aganglionic megacolon
Occasional (5-29%)HP:0002251
Ataxia
Occasional (5-29%)HP:0001251
Broad flat nasal bridge
Occasional (5-29%)HP:0000431
Decreased size of cranium
Occasional (5-29%)HP:0000252
Dull intelligence
Occasional (5-29%)HP:0001249
Hearing impairment
Occasional (5-29%)HP:0000365
Heterochromia iridis
Occasional (5-29%)HP:0001100
Increased length of philtrum
Occasional (5-29%)HP:0000343
Muscular hypotonia
Occasional (5-29%)HP:0001252
Skin cancer (non-melanoma)
Occasional (5-29%)HP:0008069
Unibrow
Occasional (5-29%)HP:0000664
Abnormal tissue mass
HP:0002664
Absent pigmentation of the ventral chest
HP:0007542
Ear anomaly
HP:0000598
Partial absent skin pigmentation
HP:0007443
Piebald skin depigmentation
HP:0007544
Quick Facts
- SNOMED CT
- 718122005
- UMLS CUI
- C0080024
- Fully Specified Name
- Piebaldism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.