epidermolysis bullosa simplex with nail dystrophy

Findings

No curated finding names epidermolysis bullosa simplex with nail dystrophy 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

Childhood onset

HPO, annotations 2026-09-02

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.

Where it sits

A kind of

• epidermolysis bullosa simplex
• PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder

Resolves to: epidermolysis bullosa simplex with nail dystrophy

Also called

epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessiveepidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive