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epidermolytic palmoplantar keratoderma

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas.
Uniprot Description A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints.
Mondo Term and Equivalent IDs
MONDO:0007758:  epidermolytic palmoplantar keratoderma
GARD:0002826: 
NCIT:C84693: 
Orphanet:2199: 
SCTID:399955009: 
UMLS:C1721006: