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Ontology Browser

Term:
epidermolysis bullosa dystrophica (DOID:4959)
Annotations: Rat: (5) Mouse: (6) Human: (5) Chinchilla: (3) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
collagen disease +     
Alport syndrome +   
Bullous Dystrophy, Hereditary Macular Type 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Collagenosis, Familial Reactive Perforating 
disseminated eosinophilic collagen disease 
Ehlers-Danlos syndrome +   
epidermolysis bullosa acquisita 
epidermolysis bullosa dystrophica +   
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.
epidermolysis bullosa simplex +   
Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 
Epidermolysis Bullosa with Diaphragmatic Hernia 
Epidermolysis Bullosa, Lethal Acantholytic  
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive  
Familial Cutaneous Collagenoma  
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital  
junctional epidermolysis bullosa +   
Keloid +   
Kindler syndrome  
Kniest dysplasia  
mixed connective tissue disease  
Necrobiotic Disorders +  
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
osteogenesis imperfecta +   
polymyalgia rheumatica  
scleroderma +   

Synonyms
Exact Synonyms: Dystrophic Epidermolysis Bullosa ;   Dystrophic Epidermolysis Bullosa, Autosomal Recessive ;   EBR1 ;   Epidermolysis Bullosa Dystrophica, Autosomal Recessive ;   Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type ;   Epidermolysis Bullosa Dystrophica, Recessive ;   Epidermolysis Bullosa Dystrophicas ;   Epidermolysis bullosa dystrophica, AR ;   Hallopeau Siemens disease ;   RDEB ;   dystrophic epidermolysis bullosas
Narrow Synonyms: EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE ;   EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT ;   epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, AD
Primary IDs: MESH:D016108
Alternate IDs: OMIA:000341 ;   OMIM:226600
Xrefs: GARD:2150 ;   NCI:C84691 ;   ORDO:303
Definition Sources: https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes "DO", MESH:D016108

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