. "ORDO:79401"^^ . "ICD10CM:Q81.0"^^ . . "OMIM:131950"^^ . "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."^^ . "EBS-Og"@en . _:vb50939278 . "EBS-O"@en . _:vb50939278 . "DOID:0060736"^^ . _:vb50939278 . "EBSOG"@en . . _:vb50939278 . "disease_ontology"^^ . _:vb50939278 . . "epidermolysis bullosa simplex Ogna type"^^ .