Human genes for epidermolysis bullosa simplex Ogna type
Epidermolysis bullosa simplex Ogna type [DOID:0060736]
An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
Synonyms: epidermolysis bullosa simplex Ogna type, DOID:0060736, epidermolysis bullosa simplex Ogna types, EBS-O, EBS-Og ...