Term Name: | epidermolysis bullosa simplex Ogna type |
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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 ) |