syndromic disease epidermolysis bullosa simplex 5B, with muscular dystrophy https://github.com/monarch-initiative/mondo/issues/4499 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/8951 https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy https://www.malacards.org/card/epidermolysis_bullosa_simplex_5b_with_muscular_dystrophy MDEBS MESH:C535955 NANDO:2201376 limb-girdle muscular dystrophy with epidermolysis bullosa simplex OMIM:226670 EBS-MD Orphanet:257 GARD:0002137 MEDGEN:418981 MD-EBS Epidermolysa bullosa simplex with muscular dystrophy EBSMD Epidermolysa bullosa simplex and limb girdle muscular dystrophy SCTID:723308003 epidermolysis bullosa simplex and limb-girdle muscular dystrophy DOID:0090017 MONDO:0009181 epidermolysis bullosa simplex - limb girdle muscular dystrophy epidermolysis bullosa simplex with muscular dystrophy A basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. epidermolysis bullosa simplex 5B, with muscular dystrophy UMLS:C2931072 autosomal recessive limb-girdle muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of plectin epidermolysis bullosa simplex PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder