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epidermolytic hyperkeratosis

Disease Summary
Associated Targets (6)
Tbio

5

Tchem

1


GARD Rare
Mondo Description Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
Uniprot Description An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.
Mondo Term and Equivalent IDs
MONDO:0007239:  epidermolytic hyperkeratosis
GARD:0001039: 
MESH:D017488: 
NCIT:C62569: 
Orphanet:312: 
SCTID:254167000: