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Ontology Browser

Term:
junctional epidermolysis bullosa (DOID:3209)
Annotations: Rat: (9) Mouse: (9) Human: (11) Chinchilla: (9) Bonobo: (9) Dog: (9) Squirrel: (9) Pig: (9)
Parent Terms Term With Siblings Child Terms
Bullous Dystrophy, Hereditary Macular Type 
epidermolysis bullosa acquisita 
epidermolysis bullosa dystrophica +   
epidermolysis bullosa simplex +   
Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 
Epidermolysis Bullosa with Diaphragmatic Hernia 
Epidermolysis Bullosa, Lethal Acantholytic  
junctional epidermolysis bullosa +   
An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. (DO)
Kindler syndrome  

Synonyms
Exact Synonyms: Herlitz disease ;   Herlitz's disease ;   Herlitzs disease ;   congenital junctional epidermolysis bullosa ;   epidermolysis bullosa junctionalis ;   epidermolysis bullosa progressiva
Narrow Synonyms: epidermolysis bullosa junctionalis, LAMA3-related
Primary IDs: MESH:D016109
Alternate IDs: OMIA:001677
Xrefs: GARD:2152 ;   NCI:C90598 ;   OMIM:PS226650
Definition Sources: https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes "DO" "DO"

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