DISEASES

Disease-gene associations mined from literature

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 ...