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epidermolysis bullosa simplex due to BP230 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of epidermolysis bullosa, a dermatologic disorder characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. EBSB2 is characterized by trauma-induced blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques.
Mondo Term and Equivalent IDs
MONDO:0014180:  epidermolysis bullosa simplex due to BP230 deficiency
Orphanet:412181: 
UMLS:C3809470: