epidermolysis bullosa simplex 2A, generalized severe
MONDO:0030489Mondo
Findings
No curated finding names epidermolysis bullosa simplex 2A, generalized severe yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 14 of 14 reported patients
- Oral mucosal blistersHPOHP:0200097
- 14 of 14 reported patients
- Palmoplantar blisteringHPOHP:0007446
- 1 of 1 reported patient
- Stratum basale cleavageHPOHP:0034193
- 1 of 1 reported patient
- Tonofilament clumpingHPOHP:0034067
- 2 of 2 reported patients
- Intra-epidermal blisteringHPOHP:0033802
- Palmoplantar hyperkeratosisHPOHP:0000972
Where it sits
- A kind of
Other names
1 name
Resolves to: epidermolysis bullosa simplex 2A, generalized severe
- Also called
- EBS2A