epidermolysis bullosa, junctional 2A, intermediate
MONDO:0030746Mondo
Findings
No curated finding names epidermolysis bullosa, junctional 2A, intermediate yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 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
- 2 of 2 reported patients
- Oral mucosal blistersHPOHP:0200097
- 1 of 2 reported patients
- Subepidermal blisteringHPOHP:0033804
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LAMA3HGNC:6483
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: epidermolysis bullosa, junctional 2A, intermediate
- Also called
- epidermolysis bullosa, junctional 2A, generalised intermediateepidermolysis bullosa, junctional 2A, generalized intermediateepidermolysis bullosa, junctional 2A, non-herlitz IIAJEB2A