Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal blistering of the skin
Very frequent (80-99%)HP:0008066
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Junctional split
Very frequent (80-99%)HP:0003341
Skin fragility with non-scarring blistering
Very frequent (80-99%)HP:0007585
Palmar hyperkeratosis
Frequent (30-79%)HP:0010765
Patchy hyperpigmentation
Frequent (30-79%)HP:0005585
Patchy hypopigmentation
Frequent (30-79%)HP:0005590
Plantar hyperkeratosis
Frequent (30-79%)HP:0007556
Bullae of oral mucosa
Occasional (5-29%)HP:0200097
Dental problems
Occasional (5-29%)HP:0000164
Dystrophic nails
Occasional (5-29%)HP:0008404
Hyperpigmented macules
Occasional (5-29%)HP:0001034
Hypomelanotic macule
Occasional (5-29%)HP:0009719
Milia
Occasional (5-29%)HP:0001056
Mixed hypo- and hyperpigmentation of the skin
Occasional (5-29%)HP:0009123
Papules
Very rare (1-4%)HP:0200034
Skin itching
Very rare (1-4%)HP:0000989
Related Conditions
Quick Facts
- SNOMED CT
- 90496008
- UMLS CUI
- C0079299
- Fully Specified Name
- Generalized epidermolysis bullosa simplex (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.