epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

Findings

No curated finding names epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 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 · Infantile 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.

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.

Where it sits

A kind of

• epidermolysis bullosa simplex

Resolves to: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

Also called

EBS-AR KRT14EBS, autosomal recessive K14epidermolysis bullosa simplex, autosomal recessive type 1KRT14-related autosomal recessive EBSKRT14-related autosomal recessive epidermolysis bullosa simplexKRT14-related epidermolysis bullosa simplex