Epidermolysis Bullosa Simplex 6, Generalized Intermediate, with or Without Cardiomyopathy (EBS6)

Alias:

Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss

Ebssh

Ebs6

Epidermolysis Bullosa Simplex 6, Generalized Intermediate, with Scarring and Hair Loss, with or Without Dilated Cardiomyopathy

Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss, with or Without Cardiomyopathy

Epidermolysis Bullosa Simplex 6, Generalized, with Scarring and Hair Loss

Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy

Intermediate Ebs with Cardiomyopathy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Epidermolysis Bullosa Simplex 6, Generalized Intermediate, with or Without Cardiomyopathy, is also known as epidermolysis bullosa simplex, generalized, with scarring and hair loss. An important gene associated with Epidermolysis Bullosa Simplex 6, Generalized Intermediate, with or Without Cardiomyopathy is KLHL24 (Kelch Like Family Member 24). Affiliated tissues include skin and heart, and related phenotypes are abnormal blistering of the skin and hypopigmentation of the skin

Related ID：

MALACARDS：EPD126

OMIM：617294

MESH：D016110