GenTIGSA Gene Database on Rare Genetic Disorders
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Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy  
Disease Aliases (15)

Ebs with muscular dystrophy

Ebs-md

Ebs5b

Ebsmd

Epidermolysis bullosa simplex 5b, with muscular dystrophy

Epidermolysis bullosa simplex and limb-girdle muscular dystrophy

Epidermolysa bullosa simplex and limb girdle muscular dystrophy

Epidermolysa bullosa simplex with muscular dystrophy

Epidermolysis bullosa simplex with muscular dystrophy

Epidermolysis bullosa simplex - limb girdle muscular dystrophy

Limb girdle muscular dystrophy with epidermolysis bullosa simplex

Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Md-ebs

Mdebs

Epidermolysis bullosa simplex with muscular dystrophy; ebsmd

Associated Genes (1)
 

NCBI-RefSeq:  PLEC   (Plectin)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Epidermolysis bullosa simplex 5B, with muscular dystrophy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations