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Ontology Browser

Term:
autosomal dominant dystrophic epidermolysis bullosa (DOID:0080224)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
autosomal dominant dystrophic epidermolysis bullosa +   
An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)
Epidermolysis Bullosa Dystrophica Neurotrophica 
Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage 
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant  
Epidermolysis Bullosa Inversa Dystrophica 
Epidermolysis Bullosa Pruriginosa  
Pretibial Epidermolysis Bullosa  
recessive dystrophic epidermolysis bullosa  
transient bullous dermolysis of the newborn  

Synonyms
Exact Synonyms: Cockayne Touraine disease ;   DDEB ;   EBDCT ;   albopapuloid dominant dystrophic EB ;   epidermolysis bullosa dystrophica, AD ;   epidermolysis bullosa dystrophica, Cockayne Touraine type ;   epidermolysis bullosa dystrophica, Pasini type ;   epidermolysis bullosa dystrophica, autosomal dominant ;   epidermolysis bullosa dystrophica, dominant ;   epidermolysis bullosa, Cockayne Touraine type
Narrow Synonyms: ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA ;   EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE ;   EBDSC
Primary IDs: MESH:C535956
Alternate IDs: OMIM:131750 ;   RDO:0001344
Xrefs: GARD:2139
Definition Sources: https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.