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Disease Epidermolysis Bullosa, Junctional

Name Epidermolysis Bullosa, Junctional
Synonyms Bullosa, Herlitz-Pearson-Type Epidermolysis | Bullosa Letali, Epidermolysis | Bullosa Letalis, Epidermolysis | Disease, Herlitz | Disease, Herlitz's | Epidermolysis Bullosa, Generalized Atrophic Benign | Epidermolysis Bullosa, Herlitz-Pearson-Type | Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type | Epidermolysis Bullosa, Junctional, Herlitz Type | Epidermolysis Bullosa Junctionalis, Disentis Type | Epidermolysis Bullosa Junctionalis, Herlitz Type | Epidermolysis Bullosa Junctionalis, Progressive | Epidermolysis Bullosa Junctionalis, Severe Nonlethal | Epidermolysis Bullosa Letali | Epidermolysis Bullosa Letalis | Epidermolysis Bullosa Progressiva | Herlitz Disease | Herlitz Pearson Type Epidermolysis Bullosa | Herlitz-Pearson Type Epidermolysis Bullosa | Herlitz-Pearson-Type Epidermolysis Bullosa | Herlitz's Disease | Herlitzs Disease | JEB-HERLITZ TYPE | Junctional Epidermolysis Bullosa | Letali, Epidermolysis Bullosa | Letalis, Epidermolysis Bullosa | Lethal Junctional Epidermolysis Bullosa
Definition Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
Categories Congenital abnormality | Genetic disease (inborn) | Skin disease
MeSH® ID D016109
OMIM® ID 226700
External Links
DO
DOID:3209

Top ↑ Ancestors

1. Diseases ← Congenital, 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, Junctional Has associated chemicals Has associated genes
2. Diseases ← Congenital, 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, Junctional Has associated chemicals Has associated genes
3. Diseases ← Skin 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, Junctional Has associated chemicals Has associated genes
4. Diseases ← Skin 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, Junctional Has associated chemicals Has associated genes
5. Diseases ← Skin 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, Junctional Has associated chemicals Has associated genes

Top ↑ Descendants

Epidermolysis Bullosa, Junctional Has associated chemicals Has associated genes
  Epidermolysis bullosa inversa dystrophica
  Epidermolysis Bullosa, Junctional, Non-Herlitz Type Has associated chemicals Has associated genes