has material basis in germline mutation in DST epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/epidermolysis_bullosa_simplex_3_localized_or_generalized_intermediate_with_bp230_deficiency epidermolysis bullosa simplex due to BP230 deficiency epidermolysis bullosa simplex, autosomal recessive 2 EBSB2 OMIM:615425 EBS-AR BP230 Orphanet:412181 MEDGEN:815800 MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency DST-related epidermolysis bullosa simplex GARD:0017690 UMLS:C3809470 epidermolysis bullosa simplex, autosomal recessive type 2 epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency epidermolysis bullosa simplex