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epidermolysis bullosa simplex due to plakophilin deficiency

Disease Summary
Associated Targets (1)


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Mondo Description Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
Uniprot Description A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions.
Mondo Term and Equivalent IDs
MONDO:0011472:  epidermolysis bullosa simplex due to plakophilin deficiency
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found