has material basis in germline mutation in KRT14 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_recessive_generalized_epidermolysis_bullosa_simplex https://www.malacards.org/card/epidermolysis_bullosa_simplex_1d_generalized_intermediate_or_severe_autosomal_recessive KRT14-related autosomal recessive epidermolysis bullosa simplex MEDGEN:811576 MESH:C563408 EBS, autosomal recessive K14 epidermolysis bullosa simplex, autosomal recessive type 1 EBS-AR KRT14 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive epidermolysis bullosa simplex, autosomal recessive 1 OMIM:601001 KRT14-related autosomal recessive EBS KRT14-related epidermolysis bullosa simplex GARD:0016778 MONDO:0010976 UMLS:C3715082 Orphanet:89838 EBSB1 A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. epidermolysis bullosa simplex