Table B.

OMIM Entries for Epidermolysis Bullosa Simplex (View All in OMIM)

113810DYSTONIN; DST
131760EPIDERMOLYSIS BULLOSA SIMPLEX 1A, GENERALIZED SEVERE; EBS1A
131800EPIDERMOLYSIS BULLOSA SIMPLEX 1C, LOCALIZED; EBS1C
131900EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE; EBS1B
131960EPIDERMOLYSIS BULLOSA SIMPLEX 2F, WITH MOTTLED PIGMENTATION; EBS2F
148040KERATIN 5, TYPE II; KRT5
148066KERATIN 14, TYPE I; KRT14
226670EPIDERMOLYSIS BULLOSA SIMPLEX 5B, WITH MUSCULAR DYSTROPHY; EBS5B
601001EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS1D
601282PLECTIN; PLEC
602243CD151 ANTIGEN; CD151
609057EPIDERMOLYSIS BULLOSA SIMPLEX 7, WITH NEPHROPATHY AND DEAFNESS; EBS7
609352EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA; EBS2E
611295KELCH-LIKE 24; KLHL24
612878EXOPHILIN 5; EXPH5
615028EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE; EBS4
615425EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY; EBS3
617294EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY; EBS6
619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A
619594EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C
619599EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D

From: Epidermolysis Bullosa Simplex

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