Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Alopecia areata
Always present (100%)HP:0002232
Blister
Always present (100%)HP:0008066
Dental cavities
Always present (100%)HP:0000670
Dystrophic nails
Always present (100%)HP:0008404
Enamel dysplasia
Always present (100%)HP:0006297
Bullae of oral mucosa
HP:0200097
Fragile nails
HP:0001808
Missing between one and six teeth
HP:0000668
Palmar hyperhidrosis
HP:0006089
Plantar hyperkeratosis
HP:0007556
Proximal interphalangeal finger joint contractures
HP:0100490
Related Conditions
Localised junctional epidermolysis bullosa(child)
Generalized junctional epidermolysis bullosa(child)
Congenital junctional epidermolysis bullosa(child)
Late-onset junctional epidermolysis bullosa(child)
Junctional epidermolysis bullosa non-Herlitz type(child)
Epidermolysis bullosa(parent)
Recessive hereditary disorder (autosomal)(parent)
Quick Facts
- SNOMED CT
- 399971009
- UMLS CUI
- C0079301
- Fully Specified Name
- Junctional epidermolysis bullosa (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.