Additional Disease Briefs

epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

Also known as: EBNS, EBS-AR exophilin 5, epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, epidermolysis bullosa simplex due to exophilin 5 deficiency, epidermolysis bullosa, nonspecific, autosomal recessive

epidermolysis bullosa simplex 5B, with muscular dystrophy

Also known as: EBS-MD, EBSMD, Epidermolysa bullosa simplex and limb girdle muscular dystrophy, Epidermolysa bullosa simplex with muscular dystrophy, MD-EBS, MDEBS, epidermolysis bullosa simplex - limb girdle muscular dystrophy, epidermolysis bullosa simplex 5B, with muscular dystrophy, epidermolysis bullosa simplex and limb-girdle muscular dystrophy, epidermolysis bullosa simplex with muscular dystrophy, limb-girdle muscular dystrophy with epidermolysis bullosa simplex

epidermolysis bullosa simplex 5C, with pyloric atresia

Also known as: EBS with pyloric atresia, EBS-PA, EBSPA, epidermolysis bullosa simplex 5C, with pyloric atresia, epidermolysis bullosa simplex with pyloric atresia

epidermolysis bullosa simplex 6, generalized, with scarring and hair loss

Also known as: EBSSH, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, epidermolysis bullosa simplex, generalized, with scarring and hair loss, epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH, generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss, generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss

epidermolysis bullosa simplex 7, with nephropathy and deafness

Also known as: epidermolysis bullosa simplex 7, with nephropathy and deafness, nephropathy with pretibial epidermolysis bullosa and deafness, nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome

epidermolysis bullosa simplex due to plakophilin deficiency

Also known as: McGrath syndrome, Mcgrath syndrome, ectodermal dysplasia - skin fragility syndrome, ectodermal dysplasia skin fragility syndrome, ectodermal dysplasia-skin fragility syndrome, ectodermal dysplasia/skin fragility syndrome

epidermolysis bullosa simplex superficialis

Also known as: EBSS, epidermolysis bullosa simplex superficialis

epidermolysis bullosa simplex with anodontia/hypodontia

Also known as: Gamborg-Nielsen syndrome, Kallin syndrome

epidermolysis bullosa simplex with nail dystrophy

Also known as: EBSND, epidermolysis bullosa simplex 5D, generalised intermediate, autosomal recessive, epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, epidermolysis bullosa simplex with nail dystrophy

epidermolysis bullosa, junctional 2A, intermediate