epidermolysis bullosa simplex Ogna type (DOID:0060736)
Alliance: disease page
Synonyms: EBS-O; EBS-Og; EBSOG
Alt IDs: OMIM:131950, ICD10CM:Q81.0, ORDO:79401
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.