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Disease Epidermolysis Bullosa Dystrophica

Name Epidermolysis Bullosa Dystrophica
Synonyms Bullosa Dystrophica, Epidermolysis | Bullosa Dystrophicas, Epidermolysis | Bullosa, Dystrophic Epidermolysis | Bullosas, Dystrophic Epidermolysis | Cockayne Touraine Disease | Cockayne-Touraine Disease | Cockayne Touraine Type Epidermolysis Bullosa | Cockayne-Touraine Type Epidermolysis Bullosa | Dystrophica, Epidermolysis Bullosa | Dystrophicas, Epidermolysis Bullosa | Dystrophic Epidermolysis Bullosa | Dystrophic Epidermolysis Bullosa, Autosomal Recessive | Dystrophic Epidermolysis Bullosas | EBR1 | Epidermolysis Bullosa, Dystrophic | Epidermolysis Bullosa Dystrophica, Autosomal Recessive | Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type | Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type | Epidermolysis Bullosa Dystrophica, Dominant | EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED | Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type | Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type | EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED | Epidermolysis Bullosa Dystrophica, Recessive | Epidermolysis Bullosa Dystrophicas | Epidermolysis Bullosas, Dystrophic | Hallopeau Siemens Disease | Hallopeau-Siemens Disease | RDEB
Definition Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Categories Congenital abnormality | Connective tissue disease | Genetic disease (inborn) | Skin disease
MeSH® ID D016108
OMIM® ID 226600
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Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Epidermolysis Bullosa Has associated chemicals Has associated genes Epidermolysis Bullosa Dystrophica Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Epidermolysis Bullosa Has associated chemicals Has associated genes Epidermolysis Bullosa Dystrophica Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Collagen Diseases Has associated chemicals Has associated genes Epidermolysis Bullosa Dystrophica Has associated chemicals Has associated genes
4. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Epidermolysis Bullosa Has associated chemicals Has associated genes Epidermolysis Bullosa Dystrophica Has associated chemicals Has associated genes
5. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Epidermolysis Bullosa Has associated chemicals Has associated genes Epidermolysis Bullosa Dystrophica Has associated chemicals Has associated genes
6. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Vesiculobullous Has associated chemicals Has associated genes Epidermolysis Bullosa Has associated chemicals Has associated genes Epidermolysis Bullosa Dystrophica Has associated chemicals Has associated genes

Top ↑ Descendants

Epidermolysis Bullosa Dystrophica Has associated chemicals Has associated genes
  Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
  Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
  Epidermolysis Bullosa Dystrophica Neurotrophica
  Epidermolysis bullosa dystrophica, Pasini type Has associated chemicals Has associated genes
  Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage
  Epidermolysis bullosa, pretibial Has associated chemicals Has associated genes
  Epidermolysis Bullosa Pruriginosa Has associated chemicals Has associated genes
  Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Has associated chemicals Has associated genes
  Transient bullous dermolysis of the newborn Has associated chemicals Has associated genes