Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acral blistering
Always present (100%)HP:0031045
Reduced epidermal kindlin-1 expression
Always present (100%)HP:6000714
Skin degeneration
Always present (100%)HP:0004334
Abnormal blistering of the skin
Very frequent (80-99%)HP:0008066
Aplasia/Hypoplasia of the skin
Very frequent (80-99%)HP:0008065
Cutaneous photosensitivity
Very frequent (80-99%)HP:0000992
Erythema
Very frequent (80-99%)HP:0010783
Keratoderma
Very frequent (80-99%)HP:0000982
Poikiloderma
Very frequent (80-99%)HP:0001029
Red and sore lips
Very frequent (80-99%)HP:0100825
Teleangiectasia of the skin
Very frequent (80-99%)HP:0100585
Abnormal skin colour
Frequent (30-79%)HP:0001000
Abnormal toenail morphology
Frequent (30-79%)HP:0008388
Colitis
Frequent (30-79%)HP:0002583
Deglutition disorder
Frequent (30-79%)HP:0002015
Dystrophic tooth enamel
Frequent (30-79%)HP:0000682
Esophageal stricture
Frequent (30-79%)HP:0002043
Esophagitis
Frequent (30-79%)HP:0100633
Oral white plaque
Frequent (30-79%)HP:0002745
Palmoplantar keratosis
Frequent (30-79%)HP:0000972
Partial syndactyly
Frequent (30-79%)HP:0006101
Periodontal disease
Frequent (30-79%)HP:0000704
Phimosis
Frequent (30-79%)HP:0001741
Premature exfoliation of primary teeth
Frequent (30-79%)HP:0006323
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Red and swollen gums
Frequent (30-79%)HP:0000230
Rotting teeth
Frequent (30-79%)HP:0000670
Skin infections, recurrent
Frequent (30-79%)HP:0001581
Abnormality of the anus
Occasional (5-29%)HP:0004378
Abnormality of the skull bones
Occasional (5-29%)HP:0000929
Quick Facts
- SNOMED CT
- 238836000
- UMLS CUI
- C0406557
- Fully Specified Name
- Kindler epidermolysis bullosa (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.