Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Alopecia areata
Always present (100%)HP:0002232
Dental cavities
Always present (100%)HP:0000670
Junctional split
Always present (100%)HP:0003341
Abnormal oral mucosa morphology
Very frequent (80-99%)HP:0011830
Enamel, underdeveloped
Very frequent (80-99%)HP:0006297
Fragile skin
Very frequent (80-99%)HP:0001030
Hypoplastic dermoepidermal hemidesmosomes
Very frequent (80-99%)HP:0020117
Nail disease
Very frequent (80-99%)HP:0001597
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Retarded growth
Very frequent (80-99%)HP:0001510
Skin bullae
Very frequent (80-99%)HP:0008066
Skin erosion
Very frequent (80-99%)HP:0200041
Skin infections, recurrent
Very frequent (80-99%)HP:0001581
Skin plaque
Very frequent (80-99%)HP:0200035
Abnormal fingertip morphology
Frequent (30-79%)HP:0001211
Anonychia
Frequent (30-79%)HP:0001798
Difficulty breathing
Frequent (30-79%)HP:0002094
Erosion of oral mucosa
Frequent (30-79%)HP:0031446
Husky voice
Frequent (30-79%)HP:0001609
Low number of red blood cells or hemoglobin
Frequent (30-79%)HP:0001903
Malnutrition
Frequent (30-79%)HP:0004395
Noisy breathing
Frequent (30-79%)HP:0010307
Paronychia
Frequent (30-79%)HP:0001818
Abnormality of ion homeostasis
Occasional (5-29%)HP:0003111
Abnormality of the bladder
Occasional (5-29%)HP:0000014
Abnormality of the cornea
Occasional (5-29%)HP:0000481
Abnormality of the upper respiratory tract
Occasional (5-29%)HP:0002087
Absent/small bladder
Occasional (5-29%)HP:0010476
Congenital scars
Occasional (5-29%)HP:0001057
Cystic kidney disease
Occasional (5-29%)HP:0000107
Quick Facts
- SNOMED CT
- 79855003
- UMLS CUI
- C0079301
- Fully Specified Name
- Congenital junctional 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.