Term Name: epidermolysis bullosa simplex Ogna type
Synonyms: EBS-O, EBS-Og, EBSOG
Definition: 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.
Ontology: Human Disease [DOID:0060736]   ( DOID:0060736 )

Relationships
is a type of: autosomal dominant disease epidermolysis bullosa simplex